12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Bibliography[OMIM]:
complement component C1q A
chain deficiency
autosomal dominant
120550
clinical findings of systemic lupus
erythematous and/or glomerulonephritis.
complement component C1s
deficiency
autosomal dominant
120580
clinical findings of systemic lupus
erythematous and/or glomerulonephritis.
dementia nonspecific type
autosomal dominant
degenerative dementia. Potentially
paternally imprinting.
diphenylhydantoin defect in
hydroxylation
autosomal dominant
fetal hydantoin syndrome
autosomal recessive
no genetic
fetal maternal lupus syndrome
autosomal dominant
neurological disturbance, ataxia,
nystagmus, mental blunting after
administration of diphenylhydantoin due
to defect on its hydroxylation.
pre-postnatal growth deficiency,
trigonocephaly, midface hypoplasia,
nail/terminal phalanges hypoplasia,
hypospadias, ocular anomalies, single
umbilical artery, other defects.
Ganglioneuroblastoma lymphoma
tendency.
bradycardia detected in utero, heart
block, skin discoid lupus, rash in the
newborn.
leukemia-associated
phosphoprotein p18
sporadic
undefinable
lupus erythematous systemic
supposed autosomal dominant
supposed multifactorial
methylmalonicacidemia
homocystinuria 1
autosomal recessive
methylmalonicacidemiahomocystinuria 2
autosomal recessive
myopathy with lactic acidosis
mitochondrial
supposed autosomal recessive
chromosome 1 localization
acute leukemia of various types with
increased cellular levels of an 18-kD
cytosolic phosphoprotein (p18) mapping
on chromosome 1p.
fever, weight loss, cutaneous lesions,
erythematous butterfly rash of the face,
maculopapular rash after sunlight
exposure, alopecia, symmetric arthritis,
myalgia, renal disease, peripheral
neuropathy, immunological disorders;
occasionally fetal myocardittis/heart
block.
first months onset; failure to thrive,
neurologic manifestations, spasticity,
delirium, seizures, lethargy,
megaloblastosis/macrocytic anemia,
with normal serum cobalamin and folate
concentrations.
failure to thrive, neurologic
manifestations, spasticity, delirium,
seizures, lethargy,
megaloblastosis/macrocytic anemia with
normal serum cobalamin and folate
concentration.
weakness, cramps, severe acidosis,
mitochondrial abnormalities,
sideroblastic anemia.
Hum.Mol.Genet.4,162
5-1628,1995
600795
132810
261720
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 559
B.D.Encyclopedia
2112 p.177
Prenat.Diagn.21,143145,2001
151442
152700
601690
277400
277410
255125
chromosome 1p localization
acute insuline response
modified type
autosomal dominant
variation in insulin secretion in response
to a glucose challenge.
Genomics 39,227230,1997
601676
acute myeloid leukemia 2
sporadic
acute myeloid leukemia.
600210
Genomics 23,425432,1994
Genus Clinical Database
chromosome 1p localization
1 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
acyl-CoA dehydrogenase
deficiency medium chain
autosomal recessive
mitochondrial
adenosine monophosphate
deaminase1 deficiency.
supposed autosomal dominant
intermittent hypoglycemia, lethargy,
coma, fatty liver, hyperammonemia,
sudden death.
nonprogressive myopathy, exerciserelated weakness, cramps, hypotonia.
adrenal hyperplasia II
autosomal recessive
agranulocytosis infantile
autosomal recessive
Albers-Shonberg dominant type autosomal dominant
amaurosis congenita Leber II
autosomal recessive
atrioventricular septal defect
multifactorial
supposed autosomal dominant
Auburger syndrome
autosomal dominant
Bartter syndrome infantile type
autosomal recessive
Bartter syndrome type 3
autosomal recessive
breast cancer ductal-2
autosomal recessive
cardiomyopathy dilated-1A
autosomal dominant
mitochondrial
supposed genetic heterogeneity
carnitine palmitoyltransferase II autosomal recessive
deficiency lethal form
mild virilization, hypospadias, male
pseudohermaphroditism, salt loss.
congenital neutropenia, severe recurrent
infections.
bones fragility, dental abscess,
osteomyelitis, sandwich appearance of
the vertebral bodies, 'bone within bone'
appearance of the long bones, high level
of acid phosphatase without anemia.
keratoconus, pigmentary changes
resembling retinitis pigmentosa, mental
retardation, neuropsychiatric disorders.
isolated failure of separation of the
ventricular inlet, inducing cyanosis,
congestive failure.
Bibliography[OMIM]:
201450
102770
201810
202700
166600
204100
Am.J.Med.Genet.
47,437-438,1993
600309
Genomics 31,9094,1996
601042
Pediat.Nephrol.1,491premature birth, postnatal poliuria,
dysmorphic face, hypokalemic alkalosis, 497,1987
occasionally sensorineural deafness.
602522
renal salt-wasting inducing hypotension, Nature Genet.17,171178,1997
hypokalemic alkalosis, hypercalciuria,
nephrocalcinosis leading to renal failure, 602023
other clinical data.
Prenat.Diagn.19,671673,1999
frequently bilateral multifocal breast
211420
cancer in premenopausal women or in
176705
males.
188825
115200
cardiac arrhythmias, congestive heart
failure, conduction defect, sudden death,
great variability of age of onset.
episodic paroxysmal choreoathetosis,
spasticity, ataxia.
lethal neonatal form of hypoketotic
hypoglycemia, cardiac arrhythmia,
lethargy.
New Eng.J.Med.
325.1862-1864,1991
600649
115665
cataract congenital Volkmann
type
X-linked dominant
congenital cataract.Eye isolated
anomalies.
cataract posterior polar
autosomal dominant
ceroid lipofuscinosis infantile
Finnish type
autosomal recessive
Charcot-Marie-Tooth motor
sensory neuropathy IIA
autosomal dominant
complement component C1q A
chain deficiency
autosomal dominant
congenital type of cataract. Occasionally
posterior lenticonus. Eye isolated
anomaly.
first months of age onset; microcephaly,
seizures, ataxia, retinal degeneration,
optic atrophy, psychomotor decline, loss
of speech; pathologic inclusion body.
peroneal muscular atrophy, pes cavus,
decreased median neve conduction,
motor-sensory neuropathy neuronal
form.
clinical findings of systemic lupus
erythematous and/or glomerulonephritis.
complement component C1q B
chain deficiency
autosomal dominant
120570
clinical findings of systemic lupus
erythematous and/or glomerulonephritis.
complement component C8
deficiency type I
autosomal dominant
infections recurrent, meningitis
meningococcal.
120950
complement component C8
deficiency type II
autosomal dominant
recurrent infections, meningitis
meningococcal.
120960
Genus Clinical Database
chromosome 1p localization
116600
256730
Prenat.Diagn.19,559562,1999
118210
120550
2 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
corneal dystrophy Schnyder
type
autosomal dominant
deafness neurosensorial
autosomal dominant-2
autosomal dominant
Early life onset. Bilateral corneal central
part oval/annular clouding. Sometimes
associated with premature corneal arcus
and limbal girdle of Vogt. Eye isolated
anomaly.
noncongenital sensorineural deafness.
deafness progressive high tone autosomal dominant
neural type
genetic heterogeneity
supposed X-linked recessive
dihydropyrimidineautosomal recessive
dehydrogenase deficiency
Ehlers-Danlos VI-A
supposed autosomal recessive
Ehlers-Danlos VI-B
supposed autosomal recessive
Ehlers-Danlos VI-C
supposed autosomal recessive
elliptocytosis-1
autosomal dominant
enolase deficiency
autosomal dominant
epiphyseal dysplasia multiple 2 autosomal dominant
erythrokeratodermia variabilis
autosomal dominant
Freeman syndrome
autosomal recessive
fucosidosis I
autosomal recessive
Genus Clinical Database
high frequencies hearing loss.
unusual severe reaction to fluorouracil
administration, stomatitis, leucopenia,
hair loss, diarrhea, ataxia, other
neurologic symptoms.
severe scoliosis, recurrent joint
dislocations, stretchable skin, floppiness
amyotonic-like, premature rupture of
fetal membranes, ocular manifestations
including choroidoretinal changes,
absent hydroxylysine, low lysylhydroxylase activity.
severe scoliosis, recurrent joint
dislocations, stretchable skin,
floppiness, amyotonic-like premature
rupture of fetal membranes, ocular
manifestation including choroidoretinal
changes, normal hydroxylysine, low lysyl
hydroxylase activity.
severe scoliosis, recurrent joint
dislocations, stretchable skin, floppiness
amyotonic-like, premature rupture of
fetal membranes, ocular manifestations
including choroidoretinal changes,
normal hydroxylysine, normal lysyl
hydroxylase activity.
mild-severe chronic anemia, hemolysis,
splenomegaly, childhood/infancy onset,
poikilocytic erythrocytes.
spherocytosis with mild or absent
hemolysis.
knee and ankle pain in
infancy.Prominent joints, epiphyseal
changes involving mainly the knees,
without deformities of the spine and
chest.
infancy early, clyhdhood onset, sharply
outlined geographical areas of
erythrokeratodermia, symmetric
hyperkeratotic plaques resembling
psoriasis or pityriasis rubra pilaris,
sparing the trunk, hypertrichosis,
hyperpigmentation, erythema, varying
from timme to time and in site.
psychotic symptoms, catatonia,
catalepsy, hallucinations, vascular
thrombosis without skeletal/ocular
hallmarks of homocystinuria disease.
progresive cerebral degeneration in the
first year, weakness, hypotonia, spastic
quadriplegia, thick skin, abundant
sweating, cardiomegaly, sodium and
chloride increased in sweat, gallbladder
function defects, corneal cloudiness,
other ocular defects, lummbar kyphosis.
chromosome 1p localization
Bibliography[OMIM]:
121800
Genetic Diseases of
the Eye. Ed. Elias I.
Traboulsi 1998 p.239
Genomics 41,7074,1997
600101
124800
274270
225400
225400
225400
130500
172430
Am.J.Hum.Genet.55,6
78-684,1994
600204
133200
236250
230000
3 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
fucosidosis II
Inheritance:
Synthesis:
autosomal recessive
psychomotor retardation,
angiokeratomas, dwarfism, coarse face
resemblig mucopolysaccharidoses,
spasticity, contractures, peripheral
neuropathy, choroidoretinal changes,
corneal clouding, amyotrophy, skeletal
anomaly, respiratory infections,
thickened skiin.
hepatomegaly, vomit, failure to thrive,
mental retardation, deafness,
aminoaciduria in the severe form,
asymptomatic in the mild form.
congenital glaucoma.
galactose epimerase deficiency autosomal recessive
glaucoma primary infantile B
autosomal recessive
glycogenosis III
autosomal recessive
hydroxymethyl-glutaricaciduria
autosomal recessive
mitochondrial
hypophosphatasia 1 congenital autosomal recessive
hypophosphatasia 2 childhood
type
autosomal recessive
hypophosphatasia adult type
autosomal dominant
leukemia acute T-cell
lymphocytic
supposed multifactorial
undefinable
supposed autosomal dominant
supposed multifactorial
autosomal recessive
macular degeneration senile
maple syrup urine disease 2
melanoma malignant
supposed autosomal dominant
undefinable
myopathy metabolic carnitine
mitochondrial
palmitoyltransferase deficiency supposed autosomal recessive
I
myopathy metabolic carnitine
autosomal recessive
palmitoyltransferase deficiency mitochondrial
II
Genus Clinical Database
massive hepatomegaly, hypoglycemia,
muscle weakness, wasting, bleeding
tendency, ketoacidosis, short stature.
impressive hypoglycemia, hypotonia,
convulsions, dehydration, coma,
lethargy, cerebral atrophy, infections,
other clinical findings, nonketotic
acidosis. Leucine metabolism defects.
bone formation defects, almost
complete lack of mineralization,
intrauterin fractures, increased urinary
phosphatides.
Bibliography[OMIM]:
230000
230350
Hum.Molec.Genet.5,11
99-1203,1996
600975
232400
246450
241500
Prenat.Diagn.19,755757,1999
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 392
241510
failure to thrive, irritability, hypotonia,
severe skeletal deformity, mineralization
defects of metaphyses and skull,
premature loss of deciduous teeth,
occasionally nephrocalcinosis,
phosphoethanolaminuria.
146300
premature loss of teeth, bowed legs
resembling rickets, beaten-copper
appearance of skull, paraspinous
ligaments calcification.
187040
infantile acute lymphocytic leukemia.
macular degeneration late onset,
familial. Eye isolated anomaly.
153800
clinical features similar to MSUD1, due
to deficiency of E2 protein subunit
(transacylase or aryltransferase).
cutaneous melanoma, developing in
congenital giant nevocellular nevus.
248610
adult onset; myopathy with cramps and
myoglobinuria due to deficiency of
carnitine palmitoyl transferase II in
muscle and leukocytes, with normal
CPT I activity.
255110
Genomics 22,243244,1994
600134
155600
190020
116806
123829
attacks of myoglobinuria, muscular pain, 255120
weakness.
chromosome 1p localization
4 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
neuroblastoma
supposed autosomal recessive
256700
600613
paraneoplastic
encephalomyelitis
sporadic
suprarenal-adrenal
medulla/posteromediastinal mass with
calcifications, hypertension, fever,
sweating, abdominal pain, anorexia,
diarrhea, other cutaneous-neurovisceral
findings, characteristic laboratory data.
Occasionally it occurs prenatally.
encephalomyelitis, sensory neuropathy
associated with small-cell lung cancer.
pheochromocytoma
autosomal dominant
isolated adrenal medullary tumor,
tachycardia, sweating, hypertension,
albuminuria, renal artery stenosis.
bullous lesions on the sun-exposed
areas, ulcerations, scarring,
scleroderma-like lesions, liver disease,
hemosiderosis,
hepatocarcinoma/autoimmune diseases
tendency.
clinical features similar to the porphyria
cutanea tarda familial.
171300
porphyria cutanea tarda familial autosomal dominant
porphyria cutanea tarda
sporadic
supposed autosomal dominant
ptosis congenital
ptosis epicanthus
autosomal dominant
genetic heterogeneity
autosomal dominant
retinitis pigmentosa-18
autosomal dominant
retinitis pigmentosa-19
autosomal recessive
retinitis pigmentosa-20
autosomal recessive
rhabdomyosarcoma-2
autosomal recessive
Schwartz-Jampel-Aberfeld
syndrome
autosomal recessive
Stargardt disease-1
autosomal recessive
genetic heterogeneity
Stickler syndrome III
autosomal dominant
thyrotropin deficiency
autosomal recessive
urate oxidase deficiency
autosomal dominant
uridine monophosphate kinase
deficiency
autosomal recessive
Usher IIB syndrome
autosomal recessive
Genus Clinical Database
eyelids ptosis at birth. Eye isolated
anomaly.
Bibliography[OMIM]:
168360
176100
176090
178300
178300
eyelids ptosis with epicanthus. Eye
isolated anomaly.
autosomal dominant retinitis pigmentosa. 601414
Hum.Molec.Genet.5,11
93-1197,1996
Genomics 40,142childhood onset; night blindness,
146,1997
peripheral scattered pigmentation,
choroidal atrophy. Eye isolated anomaly. 601718
180069
severe childhood-onset retinal
dystrophy, affecting rod and cone
photoreceptors.
268220
childhood onset; embrional tumor
involving connective-muscular tissue,
J.Med.Genet.20,303with a locus suggested on chromosome 312, 1983
2.
255800
myotonia, skeletal deformities, fixed
facial expression, eye anomalies
Smith's Recognizable
including juvenile cataract.
Patterns of Human
Malformation. 5th
Edition pag. 218
degeneration of the macular area with
248200
flecks, central retinitis pigmentosa,
onset in first 2 decades. Eye isolated
anomaly.
Am.J.Hum.Genet.
clinical data resembling Stickler
59(suppl.):A17,1996
syndrome I.
275100
symptoms not suggestive of thyroid
disease, such as dizziness, weakness,
hypometabolism, constipation, angina
pectoris, other associated findings.
191540
asymptomatic. Occasionally
hyperuricemia with symptoms of gout.
191710
immunodeficiency due to UMPK
deficiency.
moderate/severe congenital deafness,
occasionally cataract, retinitis
pigmentosa in late teens.
chromosome 1p localization
276905
5 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Bibliography[OMIM]:
Zellweger syndrome 2
autosomal recessive
170995
Prenat.Diagn.20,520521,2000
Zellweger syndrome variant
type
autosomal recessive
dysmorphic face, hypotonia,
seizures,hepatosplenomegaly, jaundice,
heart defects, primary glaucoma,
stippled chondral calcification, other
clinical data, resembling Zellweger
syndrome.
type II of Zellweger syndrome,
suggested by complementation studies;
ocular/neurovisceral changes, stippled
chondral calcification.
Genomics 34,198204,1996
600759
301220
214110
chromosome 1q localization
Alzheimer type 4
autosomal dominant
genomic imprinting
late onset dementia.
amyloidosis cutaneous familial
X-linked dominant
apolipoprotein A-II defect
autosomal dominant
arthropathy-camptodactylypericarditis syndrome
autosomal recessive
supposed genetic heterogeneity
breast cancer ductal-1
sporadic
undefinable
in man diarrhea, respiratory infections,
photophobia, skin hypopigmentation,
ocular changes; in female:skin
hyperpigmentation (linear streaks).
familial apolipoprotien A-II deficiency,
with normal lipid/lipoprotein profiles and
without occurrence of coronaropathy.
arthropathy, congenital flexion
contractures early infancy onset,
synovial changes, constrictive
pericarditis.
frequently bilateral multifocal breast
cancer in premenopausal women or in
males.
cardiomyopathy dilated right
ventricular-2
autosomal dominant
cardiomyopathy, arrhythmia, juvenile
sudden death.
cardiomyopathy dilated-2
autosomal dominant
variability of age of onset; dilated
cardiomyopathy, congestive heart
failure, sudden death.
107670
208250
211410
176705
188825
Hum.Mol.Genet.4,215
1-2154,1995
600996
Circulation 92,33873389,1995
601494
115195
cardiomyopathy hypertrohpic-2 autosomal dominant
hypertrophic cardiomyopathy.
cataract zonular pulverulent 1
autosomal dominant
Chediak-Higashi syndrome
autosomal recessive
complement component C3b
defect
autosomal dominant
congenital type of cataract. Eye isolated 116200
anomaly.
214500
hair skin hypopigmentation,
choroidoretinal changes, corneal
clouding, bacterial infections, anomalous
leukocytic granulations formed by fusion
of lysosomes.
120620
lupus systemic.
complement component C3d
defect
autosomal dominant
infections recurrent pyogenic.
complement component H
defect
autosomal dominant
134370
occasionally vasculitis,
thrombocytopenia, IgA nephropathy with
proteinuria and renal failure, recurrent
infections, depressed serum H (factor
beta-1H) and C3 levels.
105120
cranial neuropathy, adult onset corneal
dystrophy , thickening of the skin.
Genetic Diseases of
the Eye. Ed. Elias I.
Traboulsi 1998 p.234
premature closure of sutures, leading to 123100
abnormally shaped head, including
brachycephaly, oxycephaly,
plagiocephaly,turricephaly/acrocephaly,
cloverleaf skull.
corneal dystrophy lattice type II autosomal dominant
sporadic
craniosynostosis type 1
Genus Clinical Database
autosomal dominant
genetic heterogeneity
multifactorial
supposed autosomal recessive
chromosome 1q localization
120650
6 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
deafness neurosensorial
autosomal dominant-7
autosomal dominant
progressive high-frequencies
neurosensorial deafness.
Dejerine-Sottas disease
autosomal dominant
dysautonomia II
autosomal recessive
elliptocytosis-2
autosomal dominant
epidermolysis bullosa
atrophicans Herlitz-Pearson
type
autosomal recessive
childhood onset, weakness, areflexia,
palpable enlargement of peripheral
nerves, stocking-glove sensory loss,
cranial nerve involvement, other
neurological defects, ataxia, pes cavus,
ocular changes.
impaired pain/temperature perception,
with normal tactile sensitivity,
unexplained fever, irritability, truncal
anhydrosis, self-mutilation, presence of
the fungiform papillae.
chronic hemolytic anemia, elliptocytosis
due to congenital red cell membrane
disorder, Rhesus-unlinked.
congenital ulcerations/erosions,
congenital hands/feet blisters sparing
later; hemidesmosome defects.
epidermolysis bullosa Disentis
type
supposed autosomal recessive
adult, atrophic form of the disease with
reduced hemidesmosomes.
epidermolysis bullosa
dystrophica inversa
autosomal recessive
epidermolysis bullosa simplex
Koebner type
autosomal dominant
Factor V deficiency
autosomal recessive
factor V Leiden defect
autosomal recessive
factor XIII-B subunit deficiency
supposed autosomal recessive
fumaric aciduria
autosomal recessive
mitochondrial
Gaucher acute cerebral type
supposed autosomal recessive
Gaucher juvenile cerebral type
supposed autosomal recessive
Gaucher juvenile noncerebral
type
autosomal recessive
glaucoma juvenile autosomal
dominant
autosomal dominant
genetic heterogeneity
glycogenosis IB
autosomal recessive
blistering/skin atrophy on the trunk,
neck, thighs legs, and sparing
hands/feet; oral-esophageal-perianal
involvement.
generalized serous non-scarring blisters,
increasing in the warm season, mainly
involving soles/toes, fingers, heels;
normal teeth and nails, onset at birth or
first months of life.
mild congenital hemorrhagic disorder,
prothrombin time and partial
thromboplastin time prolonged, reduced
level of Factor V.
familial thrombosis-bleeding due to
activated protein C (APC) resistance.
bleeding tendency due to deficiency of B
subunit of factor XIII.
failure to thrive, hypotonia, mild lactic
acidemia, microcephaly, cerebral/liver
disease, other defects.
hepatosplenomegaly, head retroflexion,
strabismus, dysphagia, choking spells,
hypertonicity. Occasionally fetal
ascites/oedema. Death during the first 3
years of life.
Onset: birth to 14th year of life;
hepatosplenomegaly, ataxia, spastic
paraplegia, seizures, ophthalmoplegia,
dementia.
hepatosplenomegaly, pain joints/bones,
fractures, aseptic necrosis, scleral
pingueculae, abnormal pigmentations.
congenital primary glaucoma with late
onset, or open/closen angle glaucoma
with early onset. Eye isolated anomaly.
hypoglycemia, seizures, hepatomegaly,
ketoacidosis, growth retardation,
bleeding tendency, leucopenia,
abcesses tendency.
Genus Clinical Database
chromosome 1q localization
Bibliography[OMIM]:
Hum.Molec.Genet.5,11
87-1191,1996
601412
145900
601097
256800
130600
226700
600805
Prenat.Diagn.17,343354,1997
226650
226450
131900
Prenat.Diagn. 20,371377,2000
227400
Nature 369,64-67,1994
134580
136850
230900
Prenat.Diagn.20,340343,2000
231000
230800
137750
232220
7 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
granulomatous disease II
autosomal recessive
gray platelet syndrome
supposed autosomal recessive
hemolytic-uremic syndrome
supposed autosomal recessive
Higgins-Morton-Patronas
syndrome
autosomal recessive
hyperparathyroidism-multiple
ossifying jaw fibromas
supposed autosomal dominant
hyperproreninemia familial
autosomal dominant
hypertension essential
multifactorial
supposed autosomal dominant
autosomal dominant
at birth/young adulthood onset; severe
frequent pyogenic infections/granulomas
in any organs, osteomyelitis, due to 65kD neutrophil cytosol factor defect.
bleeding disorder due to large platelet
with few granules, due to marked
decrease or absence of platelet-specific
alpha-granule proteins.
insidious/acute onset, from few months
of age to third decade of life, hemolytic
anemia, thrombocytopenia, acute renal
failure, seizures, hypertension, cardiac
failure.
early childhood onset, severe ataxia,
posterior columns of the spinal cord
degeneration, achalasia, scoliosis,
retinitis pigmentosa.
parathyroid enlargement associated with
maxillary and mandibular tumors
histologically different from the typical
'brown tumors' of hyperparathyroidism.
normotensive subjiects with normal
plasma renin activities and high levels of
prorenin.
usually adult onset; primitive, high blood
pressure values.
hyperthermia malignant
susceptibility 5
hyperthyroidism familial
autosomal dominant
ichthyosis vulgaris
autosomal dominant
immunoglobulin G receptor I
deficiency
autosomal dominant
Kenny-Caffey syndrome
autosomal recessive
autosomal recessive
genetic heterogeneity
leukemia acute pre-B-cell
transcription factor-1
supposed multifactorial
undefinable
lupus erythematous systemic
supposed autosomal dominant
supposed multifactorial
lupus nephritis susceptibility
autosomal dominant
malaria vivax susceptibility
no genetic
measles susceptibility
autosomal dominant
Genus Clinical Database
Bibliography[OMIM]:
233710
139090
235400
Neurology 49(6),17171720,1997
145001
NewEngl.J.Med.324,13
05-1311,1991
145500
malignant hyperthermia susceptibility
related to a gene located on
chromosome 1q.
Hum.Molec.Genet.6,95
3-961,1997
601887
hyperthyroidism, due to overstimulation
by inappropriate TSH secretion.
first months of life onset;
fine/white/adherent scales, more
prominent at the calves and spares the
neck, usually lessen in the summer,
occasionally palmar hyperkeratosis,
normal steroid sulfatase activity and
serum cholesterol sulfate. Associated
atopic disease in 50% of affected
individuals.
asymptomatic familial lack of phagocyte
expression of CD64.
145650
acute lymphoblastic leukemia
associated with t(1;19) chromosomal
translocation.
fever, weight loss, cutaneous lesions,
erythematous butterfly rash of the face,
maculopapular rash after sunlight
exposure, alopecia, symmetric arthritis,
myalgia, renal disease, peripheral
neuropathy, immunological disorders;
occasionally fetal myocardittis/heart
block.
hereditary susceptibility to lupus
nephritis.
susceptibility to malaria, due to
presence of Duffy a or b antigen Fy.
rubeola susceptibility due to modified
measles virus receptor.
chromosome 1q localization
146700
J.Immun.154,28962903,19995
244460
Genomics 54,1318,1998
176310
152700
601690
J.Clin.Invest.97,13481354,1996
110700
120920
8 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Mediterranean fever familial
autosomal recessive
MEN 2 syndrome
autosomal dominant
childhood/juvenile onset; recurrent
episodes of fever, abdominal/chest pain,
peritonitis, pleuritis, associated fingings,
occasionally suggesting acute
polyarthritis.
bilateral pheochromocytoma, multifocal
medullary thyroid carcinoma, other
clinical data.
methionine synthase deficiency autosomal dominant
muscular dystrophy limb-girdle autosomal dominant
type 1B
myopathy nemaline type
autosomal dominant
autosomal dominant
autosomal recessive
genetic heterogeneity
nephrotic syndrome
Fuchshuber type
autosomal recessive
paralysis periodic hypokalemic
autosomal dominant
supposed X-linked recessive
Y-limited
platelet storage pool deficiency autosomal dominant
polycystic kidney medullary
type
autosomal dominant
porphyria variegata
autosomal dominant
prostate cancer hereditary
autosomal dominant
pycnodysostosis
autosomal recessive
pyropoikilocytosis
supposed autosomal recessive
pyruvate kinase of erythrocyte
deficiency
autosomal recessive
Genus Clinical Database
mental retardation, megaloblastic
anemia, high folate activity.
juvenile onset with slow progression;
symmetric myopathy in the proximal
limb muscles starting in lower-limb;
cardiac defects including dilated
cardiomyopathy.
nonprogressive congenital myopathy,
narrow high arched palate, weakness,
hypotonia, slender extremities,
enlongated expressionless face,
cyanosis, kyphosis, other skeletal
defects.
early childhood onset; idiopathic
nephrotic syndrome, resistance to
steroid therapy.
Bibliography[OMIM]:
249100
171400
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 526
156570
Am.J.Hum.Genet.60,8
91-895,1997
161800
Hum.Molec.Genet.4,21
55-2158,1995
600995
juvenile onset; periodic attacks of flaccid 170400
quadriplegia, lasting several hours,
311700
usually in early morning, low serum
potassium during attacks. Could be
autosomal dominant with reduction in
penetrance in females or Y limited (?) in
some instances.
bleeding diathesis, easy bruising, small 185050
and reduced platelets, due to deficiency
of delta-granules/alpha-granules or both.
174000
chronic renal failure, due to
corticomedullary/intramedullary cysts,
occasionally hematuria,
nephronophthisis, pyelonephritis;
multiple pyramidal/calyceal calculi with
ectatic medullary pyramidal changes.
Small kidney by X-ray. Association with
red/blond hair.
176200
photosensitivity, skin lesions, vesicles,
bullae, erosion, scarring, hypertrichosis,
chronic or acute attacks of
peripheral/abdominal pain, motor
paralysis, seizures, other neurological
signs.
176807
early-onset prostate cancer.
601518
600020
265800
osteosclerosis, short distal phalanges,
acro-osteolysis with wrinkled skin, dental Smith's Recognizable
anomalies, hypodontia, fontanels
Patterns of Human
delayed closure, clavicle dysplasia,
Malformation. 5th
fractures, wormian bones, mental
Edition pag. 406
retardation, deafness.
266140
hemolytic anemia at birth,
microspherocytosis, unusual red cell,
thermal sensitivity, spectrin defect.
severe nonspherocytic chronic hemolytic 266200
anemia, splenomegaly, reticulocytosis.
chromosome 1q localization
9 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
renal cell carcinoma papillary
type
autosomal dominant
hereditary multiple papillary renal cell
carcinoma.
retinitis pigmentosa-12
autosomal recessive
autosomal recessive retinitis pigmentosa Genomics 22,499504,1994
mapping on chromosoma 1q.
600105
rippling muscle disease-1
autosomal dominant
genetic heterogeneity
myotonia, muscle
hypertrophy/psudohypertrophy/rolling
contractions/cramps.
Rogers-Porter-Sidbury
syndrome
autosomal recessive
Shy-Drager syndrome
supposed autosomal dominant
spectrin alpha-subunit defect
autosomal dominant
spherocytosis type III
autosomal recessive
T-cell antigen receptor (zeta
subunit) deficiency
autosomal dominant
megaloblastic/sideroblastic anemia
responded to thiamine, diabetes
mellitus, deafness.
orthostatic hypotension, bladder/bowel
incontinence, anhidrosis, iris atrophy,
amyotrophy, ataxia, rigidity, tremor,
dopamine-beta-hydroxylase deficiency.
elliptocytosis, congenital hemolytic
anemia.
severe hemolytic anemia, spherocytosis,
spectrin deficiency in red cell membrane.
failure to thrive, dirrhoea,respiratory
infections.
T-cell receptor-CD3 complex
defect
autosomal dominant
thrombophilia due to AT-III
deficiency
autosomal dominant
trimethylaminuria
autosomal recessive
Usher IIA syndrome
autosomal recessive
van der Woude syndrome 1
autosomal dominant
Vohwinkel syndrome
autosomal dominant
palmoplantar keratoderma,
elbows/knees linear keratoses,
congenital deafness.
achromatopsia
autosomal recessive
Crigler-Najjar I disease
autosomal recessive
epidermolysis bullosa BullNorins type
autosomal dominant
autosomal recessive
genetic heterogeneity
autosomal dominant
absence of cone function, normal rod
function. Eye isolated anomaly.
nonhemolytic persisten jaundice,
unconjugated hyperbilirubinemia,
bilirubin encephalopathy, other
neurologic sequelae of kernicterus
infections.
pyelonephrosis due to bilateral
ureterovesical junction, stenosis/pyloric
atresia, severe diffuse skin lesions.
hemolytic anemia, recurrent respiratory
infections, diarrhoea, failure to thrive,
impaired immune humoral response.
increased propensity to venous
thrombosis, thrombophlebitis, with
embolism at various sites in adulthood;
pulmonary embolism.
rotting fish odor in areas of active
sweating,urine, breath due to excretion
of large amounts of TMA. Depression.
Severe hypertension after eating cheese.
moderate/severe congenital deafness,
occasionally cataract, retinitis
pigmentosa in late teens.
lower lip with depressions/paramedian
fistulas or pits, secreting viscous saliva;
cleft lip/cleft palate or lip-palate.
Bibliography[OMIM]:
179755
Neurology 44,19151920,1994
600332
249270
146500
182860
270970
186780
186780
107300
136131
602079
276901
119300
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 238
124500
chromosome 2 localization
Gilbert disease
Genus Clinical Database
chronic, fluctuating, mild unconjugated
hyperbilirubinemia, increasing with
caloric deprivation or nicotinic acid
administration, with normal
transaminases.
chromosome 2 localization
216900
218800
226730
Prenat.Diagn.20,7075,2000
143500
10 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Bibliography[OMIM]:
glaucoma juvenile open-angle
supposed autosomal dominant
137760
Genomics 36,142150,1996
Leigh syndrome FrenchCanadian type
autosomal recessive
genetic heterogeneity
Primary glaucoma. Open angles of the
anterior chamber inducing glaucoma,
due to modified effect of corticosteroids
on intraocular pressure.
insidious or acute onset under 2years,
weight loss, weakness, hypotonia,
psychomotor defect, acidosis, optic
atrophy, neurological involvement.
220111
chromosome 2p localization
acrokeratoelastoidosis
autosomal dominant
palms /soles nodular yellow plaques.
101850
ACTH deficiency isolated
supposed autosomal recessive
201400
Alstrom syndrome
autosomal recessive
aniridia 1
autosomal dominant
Carney syndrome
autosomal dominant
cataract anterior polar 1
autosomal dominant
cystinuria I
autosomal recessive
deafness neurosensory
autosomal recessive-9
autosomal recessive
adrenocortical insufficiency due to
isolated ACTH deficiency, attacks of
hypoglycemia.
retinal changes, cataract, optic atrophy,
deafness, obesity, glucose intolerance,
hypogenitalism.
total or partial absence of iris.
Occasionally, associated cataract and/or
mental retardation.Eye isolated
anomaly. Wilms tumor tendency.
profuse cutaneous pigmented lesions,
prominent in the summer months,
subcutaneous myxoid neurofibromata
resembling von Recklinghausen
disease, atrial myxoma, ephelides, nevi,
adrenocortical nodular dysplasia,
Cushing disease, tumors predisposition.
cataract anterior polar. dense white
opacities of the central part of the
anterior lens capsule.May be associated
with other congenotal malformations of
the anterior segment of the eye. Eye
isolated anomaly.
radio-opaque cystine calculi,
renal/ureteral colic, hematuria, disuria,
urinary tract infections, unconstant short
stature, mental retardation, psychiatric
disturbance. Normal aminoaciduria in
heterozygotes.
childhood onset neurosensory deafness.
Doyne choroiditis
autosomal dominant
fetal maternal acute fatty liver
autosomal recessive
mitochondrial
fructosuria
autosomal recessive
gingival fibromatosis
supposed autosomal dominant
glaucoma infantile
autosomal recessive
Genus Clinical Database
small round white retinal spots (drusen)
usually identified after the second
decade of life. May induce progressive
visual loss. May be the same of
choroiditis Hutchinson Tay tipe. Eye
isolated anomaly.
cardiomyopathy, myopathy, hypotonia,
hypoglycemia, seizures, lactic aciduria,
sudden death.
asymptomatic defect; high blood
fructose level after fructose
administration, with normal
glucose/galactose metabolism.
childhood onset; generalized
enlargement, involving all of the
gengivae.
infantile glaucoma.
chromosome 2p localization
203800
106200
160980
115650
220100
Hum.Mol.Genet.5,155158,1996
601071
126600
Genetic Diseases of
the Eye. Ed. Elias I.
Traboulsi 1998, p.130
Am.J.Hum.Genet.58,9
79-988,1996
600890
Pediat.Res.40,393398,1996
229800
135300
Hum.Molec.Genet.6,64
1-647,1997
11 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
glaucoma primary infantile 1A
autosomal recessive
large ocular globe from intrauterin life.
Eye isolated anomaly.
gonadal dysgenesis XX
autosomal recessive
holoprosencephaly 2
autosomal dominant
streak gonads resembling Turner
syndrome, female external genitalia,
normal mullerian development, 46,XX
chromosome. Gonadoblastoma
dysgerminoma tendency.
157170
mental retardation, microcephaly, cleft
lip/palate, hypotelorism, antimongoloid
slant, constipation, talipes varus, spinal
anomalies, hernias.
recurrent hypoglycemia,
143450
cardiomyopathy, seizures, liver damage,
muscular atrophy.
hydroxyacyl-CoA
autosomal recessive
dehydrogenase deficiency long mitochondrial
chain
hypercholesterolemia apo-B100 autosomal dominant
defect
apolipoprotein B defect; possible
premature coronaropathy, angina,
atherosclerosis, acanthocytosis.
xanthoma tuberosum and tendinosum,
ateromatosis, corneal arcus, other
findings characteristic of
hypercholesterolemia.
reduced serum cholesterol and low
density lipoprotein, acanthocytosis,
unresponsiveness to local anesthesia,
intolerance for fats/milk, diarrhea,
neuromuscular disorders, ataxia,
weakness, slight ocular pigmentary
degeneration.
46,XY male, external genitalia
resembling feminine in characters,
perineal hypospadias with separate
urethral and vaginal openings within
urogenital sinus. Male limited disease.
newborn period onset; prolonged
neonatal hyperbilirubinemia, mixedema,
hypothermia, bradycardia, respiratory
distress, constipation, followed in
infancy by macroglossia, hypotonia, dry
skin, puffy facies, hoarse cry, mental
retardation, other clinical finndings.
hyperlipoproteinemia II
supposed autosomal dominant
hypobetalipoproteinemia
supposed autosomal dominant
hypospadias perineoscrotal
pseudovaginal syndrome
autosomal recessive
hypothyroidism agoitrus
autosomal recessive
immunoglobulin kappa chain
defect
autosomal dominant
diarrhea, respiratory infections.
Leydig cell hypoplasia
supposed autosomal recessive
melanoma malignant
supposed autosomal dominant
undefinable
sex reversal, 46,XY with
female/ambiguous external genitalia,
without female internal organs,
occasionally labial fusion and urogenital
sinus, palpable testes in inguinal canal.
cutaneous melanoma, developing in
congenital giant nevocellular nevus.
Muir-Torre syndrome
supposed autosomal dominant
muscular dystrophy limb-girdle autosomal recessive
type 2A
Genus Clinical Database
Bibliography[OMIM]:
231300
601771
233300
107730
144400
145950
264600
218700
601843
188450
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 614
147200
233440
Genomics 22,243244,1994
600134
155600
190020
116806
123829
158320
carcinomata of the colon-duodenumlarynx, keratoacanthomata of the face,
multiple cutaneous sebaceous
neoplasms.
253600
second decade onset; hip/shoulder
proximal muscles weakness, difficulty
climbing, stairs/holding hands above
head, low back pain, occasionally
cardiomyopathy/pseudohypertrophy/high
serum creatine kinase levels.
chromosome 2p localization
12 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
muscular dystrophy limb-girdle autosomal recessive
type 2B
supposed genetic heterogeneity
muscular dystrophy Nonaka
type
supposed autosomal recessive
orofacial cleft 1
autosomal dominant
genetic heterogeneity
genomic imprinting
multifactorial
orofacial cleft 2
multifactorial
orofacial cleft 2
genomic imprinting
multifactorial
paraplegia spastic hereditary-3
autosomal dominant
genetic heterogeneity
autosomal dominant
genetic heterogeneity
paraplegia spastic hereditary-4
Parkinson disease 3
autosomal dominant
puberty precocious male-limited sex-limited, sex influence
pulmonary alveolar proteinosis
autosomal recessive
thyroid hormonogenesis defect autosomal recessive
IIA
xanthinuria
autosomal recessive
Bibliography[OMIM]:
muscular dystrophy milder than
LGMD2A. Childhood onset with variable
progression; late facial weakness and
joint contractures; occasionally cardiac
involvement.
early adulthood onset; distal muscles
involvement, especially tibialis anterior
muscles, rapid clinic progression, typical
histologic changes; high creatine kinase
levels.
complete or incomplete clefts of the
upper lip, unilateral or bilateral, including
posterior alveolar processes, and
anteriorly alae nasi. Potentially paternal
imprinting.
253601
complete or incomplete clefts of the
upper lip, unilateral or bilateral, including
posterior alveolar processes, and
anteriorly alae nasi. Potentially paternal
imprinting.
variable age of onset, progressive
spastic paraplegia.
Genomics 50,299305,1998
602966
juvenile/adult onset. Weakness,
progressive leg spasticity, occasionally
sphincter incontinence.
essential tremor, progressive akinetorigidity, shuffling gait, speech/language
difficulties beginning in adult years.
Occasionally, dysautonomia, dementia.
sexual precocity in boys, characterized
by rapid virilization, advanced
spermatogenesis during the first years
of age, due to gonadotropin-independent
hypertestosteronemia. Male limited
disease.
respiratory distress due to alveolar
obstruction with periodic-acid-Schiffpositive proteinaceous material.
hypothyroidism, mental/growth/skeletal
retardation, cretinoid facies, dry skin,
low serum thyroxine.
urinary tract stones tendency.
182601
254130
119530
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 236
182600
Nature Genet.18,262265,1998
602404
176410
265120
274500
278300
chromosome 2q localization
acrogeria
supposed autosomal recessive
albinism oculocutaneous II
autosomal recessive
Albright osteodystrophy-3
autosomal dominant
Alport syndrome recessive
autosomal recessive
genetic heterogeneity
autosomal recessive
amyotrophic lateral sclerosis
juvenile type
aneurysm intracranial Berry
type
Genus Clinical Database
autosomal dominant
hands and feet skin atrophy with old
appearance, misdiagnosed as the
Ehlers-Danlos IV syndrome.
decreased skin/hair/eyes pigmentation,
nystagmus, photophobia, choroidoretinal
defects, iridal dyschromia, tyrosinase
positive test.
mental retardation, brachydactyly,
brachymetacarpia.
clinical features of Alport syndrome.
juvenile onset; weakness, distal
muscular atrophy, spasticity,
fasciculations.
cerebral aneurysm hereditary.
chromosome 2q localization
201200
203200
Am.J.Hum.Genet.56,4
00-407,1995
600430
203780
205100
105800
13 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
abdominal aortic aneurism.
100070
Bjornstad syndrome
multifactorial
supposed autosomal dominant
supposed autosomal recessive
262000
brachydactyly E
genetic heterogeneity
sensory neural hearing loss, alopecia,
pili torti, hypogonadism.
metacarpal/metatarsal shortening, mild
short stature, round face.
aortic aneurism abdominal
cardiomyopathy dilated right
ventricular-4
Bibliography[OMIM]:
113300
602087
Genomics 45,259263,1997
601286
Hum.Molec.Genet.5,69
9-703,1996
Medizinische Genetik
9,16,1997
601847
118800
cataract polymorphic congenital autosomal dominant
congenital nonnuclear polymorphic
cataract. Eye isolated anomaly.
cholestasis progressive
familial intrahepatic 2
autosomal recessive
infancy onset; progressive intrahepatic
cholestasis, intermittent jaundice,
choreoathetosis paroxysmal
autosomal dominant
Cockayne I syndrome
autosomal recessive
paroxysmal attacks of choreoathetosis,
lasting a few minutes and a few times a
day, without unconsciousness.
cachexia, growth/mental development
reduced, loss adipose tissue, retinal
degeneration, cataract, choroidoretinal
changes, senile appearance, skin
photosensitivity.
craniofacial-deafness-hand
syndrome
supposed autosomal dominant
desmin defect
autosomal dominant
diabetes mellitus II noninsulindependent
autosomal dominant
diabetes mellitus insulindependent 12
autosomal dominant
flat face, hypertelorism, absent/small
nasal bones with slit-like nares, small
maxilla, hand ulnar deviation,
sensorineural deafness.
heterogenous disease, including distal
myopathy late onset, congenital
proximal myopathy, cardiomyopathy with
ventricular hypertrophy, Mallory bodylike inclusions.
late onset diabetes. Polyuria, polydipsia,
unexplained weight loss, fatigue,
obesity, microvascular complications,
including neuropathy, nephropathy,
retinopathy, myocardiopathy, alterations
in insulin behaviour.
insulin-dependent diabetes.
diabetes mellitus insulindependent 13
autosomal dominant
diabetes mellitus, insulin dependent.
diabetes mellitus insulindependent 7
autosomal dominant
diabetes mellitus, insulin dependent.
disaccharide intolerance II
autosomal recessive
disaccharide intolerance III
autosomal recessive
ectodermal dysplasia
Jorgenson type
supposed autosomal dominant
failure to thrive, dehydration,
fermentative diarrhea from birth, induced
by lactose ingestion, but not with other
carbohydrates.
223100
abdominal bloating, cramping,
fermentative diarrhea after milk
ingestion, childhood/adult life onset.
129490
mild hypotrichosis, mild hypodontia,
reducted sweet.
Ehlers Danlos X
supposed autosomal recessive
Ehlers-Danlos III
supposed autosomal dominant
Genus Clinical Database
mild skin changes, characteristic of E-D
syndrome, defective collagen-induced
platelet aggregation.
marked joint hyperextensibility, without
skeletal deformity, mild skin
manifestations.
chromosome 2q localization
216400
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 144
122880
125660
601419
Hum.Genet.98,422429,1996
125853
601283
Hum.Mol.Genet.5,107
5-1080,1996
601388
Science 272,18111813,1996
601318
Nature Genet 9,8085,1995
600321
223000
225310
130020
14 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Ehlers-Danlos IV autosomal
dominant
autosomal dominant
genetic heterogeneity
supposed autosomal recessive
Ehlers-Danlos IV recessive type autosomal recessive
elliptocytosis type 4
autosomal dominant
fibromuscular dysplasia of
arteries
supposed autosomal dominant
fibronectine deficiency
autosomal dominant
hyperammonemia I
autosomal recessive
ichthyosis lamellar type 2
autosomal recessive
immunodeficiency due to
selective T-cell defect
autosomal recessive
Klein-Waardenburg syndrome
supposed autosomal dominant
supposed contiguous genes
leukemia T-cell/lymphoma-4
autosomal dominant
liver cancer-1
autosomal dominant
liver cancer-2
autosomal dominant
mesomelic dysplasia
Kantaputra type
autosomal dominant
muscular dystrophy benign
congenital
supposed autosomal dominant
mycobacteriosis familial
autosomal recessive
myopathy nemaline type
autosomal recessive
autosomal dominant
autosomal recessive
genetic heterogeneity
nephronophthisis familial
juvenile
autosomal recessive
supposed genetic heterogeneity
Oguchi disease
autosomal recessive
oxalosis I
autosomal recessive
Genus Clinical Database
Bibliography[OMIM]:
130050
arteries rupture/dissection, bowel
perforation, very thin skin easily bruised.
arteries rupture/dissection, bowel
perforation, very thin skin easily bruised.
elliptocytic red cells, hemolytic disease
due to red cell membrane skeleton
defect.
reno-vascular severe hypertension,
abdominal bruit, characteristic renal
arteries appearance; arterial dissections.
keloids at sites of surgery and burns.
225350
110750
135580
Lancet I,473-474,1986
respiratory distress, poor feeding, vomit, 237300
hypotonia, lethargy, pulmonary/intestinal
hemorrhages.
congenital lamellar ichthyosis.
Hum.Molec.Genet.5,55
5-559,1996
601277
severe combined immunodeficiency due 176947
to protein tyrosine kinase deficiency.
hypoplasia of musculoskeletal system,
flexion contractures, carpal bones
fusion, syndactyly, facial/ocular
anomalies of Waardenburg syndrome
including iridal dyschromia.
leukemia with translocation between
chromosome 2 and 8.
familial primary cancer of the liver.
148820
186860
114550
liver cancer occurring in chronic
hepatitis B virus infection.
mesomelic dysplasia, bones bowing,
carpal and tarsal synostosis.
142380
early childhood onset; slow progression,
involving proximal limb muscles,
sternocleidomastoid and anterior tibial
muscles, without cardiomyopathy; high
creatine kinase levels.
atypical disseminated BCG infection
after newborn inoculation inducing
intestinal disturbance, osteomyelitis,
macrophage defect.
nonprogressive congenital myopathy,
weakness, hypotonia, slender
extremities, enlongated expressionless
face, cyanosis, kyphosis, other skeletal
signs.
Cysts of 1-15 mm in diameter, located
primarily at the corticomedullary
junction. Childhood/juvenile onset;
anemia, hypertension, chronic renal
failure, uremia, symmetrical kidney
destruction due to chronic sclerosing
tubulo-interstitial nephropathy.
stationary nightblindness, peculiar
fundus discoloration, modified by dark
adaptation. Eye isolated anomaly.
progressive, bilateral oxalate urolithiasis,
nephrocalcinosis, renal failure in
childhood, oxalate external deposits in
later stages.
158810
chromosome 2q localization
156232
209950
256030
256100
258100
259900
15 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Bibliography[OMIM]:
protein C deficiency
autosomal dominant
176860
pulmonary hypertension
primary
autosomal dominant
genetic heterogeneity
supposed autosomal recessive
pyridoxine dependency
autosomal recessive
rhabdomyosarcoma-2
autosomal recessive
syndactyly II
autosomal dominant
van der Woude syndrome 2
autosomal dominant
various age onset from infant to later
age; increased risk of lower extremities
thrombosis/pulmonary embolism/
throbophlebitis, neonatal purpura
fulminans. Occasionally associated
PHPV.
elevated pressures in the pulmonary
artery and right ventricle, without
structural anomalies of the heart/great
vessels.
seizures, prenatal/perinatal age onset,
hyperirritability, hyperacusis, feeding
difficulties, resistance to anticonvulsant
drugs and control of seizures with
pyridoxine.
childhood onset; embrional tumor
involving connective-muscular tissue,
with a locus suggested on chromosome
2.
syndactyly between 3rd/4th fingers,
polydactyly of 4th fingers in the web,
postaxial toes polydactyly.
van der Woude syndrome
Waardenburg I syndrome
autosomal dominant
deafness, dystopia canthorum, broad
nasal bridge, synophrys, heterochromia
irides, other ocular defects, white
forelock, skin depigmentation.
Waardenburg IIA syndrome
supposed autosomal dominant
193500
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 248
193510
wrinkly skin syndrome
autosomal recessive
xanthomatosis
cerebrotendinous
autosomal recessive
xeroderma pigmentosum II
autosomal dominant
deafness, broad nasal bridge, synophry,
heterochromia irides, other ocular
defects, white forelock, skin
depigmentation, no dystopia canthorum;
occasionally megacolon.
278250
present at birth; universal wrinkly
hypoelastic skin, prominent venous
pattern of the skin, increased
palmar/plantar creases, mental
retardation, microcephaly, ocular
changes, hypotonia, spinal deformity,
hip dysplasia, joint hyperextensibility.
213700
achilles tendon xanthomas, cataract,
dementia, ataxia, other neurological
disorders, atherosclerosis.
clinical and cytobiological characteristics 133510
of both XP and Cockayne syndrome.
178600
266100
268220
J.Med.Genet.20,303312, 1983
186000
Hum.Genet.7,5,1994
chromosome 3 localization
dementia nonspecific type
autosomal dominant
degenerative dementia. Potentially
paternally imprinting.
Hum.Mol.Genet.4,162
5-1628,1995
600795
histidine-rich glycoprotein
autosomal dominant
142640
protein S deficiency
autosomal dominant
Small syndrome
supposed autosomal recessive
thyrotropin-releasing hormone
deficiency
autosomal recessive
thrombosis recurrent, thrombophilia,
embolisms, acute mesenteric
infarction.due to prothrombotic effect of
histidine-rich glycoprotein.
venous thrombosis, pulmonary
embolism.
weakness, mental retardation, myopatic
facies, scoliosis, deafness, retinal
changes.
clinical findings of hypothyroidism, short
stature.
Genus Clinical Database
chromosome 3 localization
176880
216350
275120
16 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
albinism ocular-lentiginesdeafness syndrome
autosomal dominant
albinism-deafness dominant
type
supposed autosomal dominant
ocular albinism, iridal dyschromia,
reduced visual acuity, photophobia,
strabismus,choroidoretinal defects,
deafness, lentigines.
deaf-mutism, hypopigmented cutis
without eyes involvement.
Bardet-Biedl syndrome type 3
autosomal recessive
Barroso syndrome
autosomal dominant
Bibliography[OMIM]:
chromosome 3p localization
carboxylase multiple deficiency autosomal recessive
late onset
cardiomyopathy dilated-2 with
conduction defect
autosomal dominant
cardiomyopathy hypertrophic
mid-cavity type 3
autosomal dominant
carnitine-acylcarnitine
translocase deficiency
autosomal recessive
mitochondrial
cataract anterior polar 1
autosomal dominant
chondrodysplasia punctata
rhizomelic type 1
autosomal recessive
chondrodysplasia punctata
rhizomelic type 2
autosomal recessive
colorectal familial cancer
Lynch I
supposed autosomal dominant
undefinable
colorectal familial cancer
Lynch II
autosomal dominant
Genus Clinical Database
postaxial polydactyly, hypogonadism,
obesity, mental retardation, pigmentary
retinopathy. Chromosome 3p
localization.
acanthosis nigricans, diabetes mellitus,
severe insulin resistance, hypertension.
Gene map Locus: 3p25.
seizures, hypotonia, ataxia, deafness,
optic atrophy, skin rash, dermatitis,
alopecia, organic aciduria, acidosis,
lethargy; first weeks/months of age
onset.
dilated cardiomyopathy associated with
conduction defect.
variant of cardiac hypertrophy
characterized by thickening of the midleft ventricular chamber; associated
abnormal skeletal muscle.
cardiac failure, weakness, respiratory
distress, hepatomegaly, neurologic
signs.
cataract anterior polar. dense white
opacities of the central part of the
anterior lens capsule.May be associated
with other congenotal malformations of
the anterior segment of the eye. Eye
isolated anomaly.
rhizomelic dwarfism, microcephaly, flat
face, cataract, optic atrophy,
contractures, ichthyosis, alopecia.
rhizomelic dwarfism, microcephaly, flat
face, cataract, optic atrophy,
contractures, ichthyosis, alopecia. No
some biochemical defects typical of the
type 1.
site-specific colonic cancer changes in
bowel habit, rectal bleeding, abdominal
pain, anemia, weight loss, onset before
40 years. May be the same of Lynch II.
Associated endometrial
carcinoma/atypical hyperplasia, uterine
leiomyosarcoma, renal/bladder
carrcinoma, gastric/biliary carcinoma.
colonic cancer in association with other
familial carcinomas, such as
endometrium/ovary/pancreas. May be
the same of Lynch I.
chromosome 3p localization
103470
103500
Hum.Mol:Genet.3,133
1-1335,1994
600151
Nature 402,880883,1999
604367
601487
253260
J.Clin.Invest. 97,528532,1996
601154
Nature Genet.132,6369,1996
212138
115650
215100
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 390
222765
Prenat.Diagn.19,383385,1999
114500
190020
116806
114400
116806
17 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
deafness neurosensory
autosomal recessive-6
autosomal recessive
neurosensory deafness.
epidermolysis bullosa
dystrophica Pasini type
autosomal dominant
epidermolysis bullosa
dystrophica pretibial
supposed autosomal dominant
first week life onset, generalized serous
sanguineous blisters, leaving large red
atrophic areas on the extremities,
involving ears/face/buttocks, oral
blistering, dystrophic nails.
dermolysys limited to pretibial leg,
childhood onset.
epidermolysis bullosa
Hallopeau-Siemens type
autosomal recessive
Fanconi pancytopenia type 4
autosomal recessive
gangliosidosis GM1-I
autosomal recessive
glycogenosis IV
autosomal recessive
hemeralopia rhodopsin-related
autosomal dominant
HIV infection
susceptibility/resistance
autosomal recessive
hyperglycinemia nonketotic II
autosomal recessive
Larsen syndrome
autosomal dominant
genetic heterogeneity
supposed autosomal recessive
long QT syndrome 3
autosomal dominant
abnormal prolungation of QT inducing
attacks of syncope, other cardiac
disturbance.
lung cancer small-cell
sporadic
Marfan syndrome II
autosomal dominant
metaphyseal dysplasia Jansen
type
autosomal dominant
small-cell cancer of the lung with
precocious metastases. Sensitive to
therapies. Occasionally paraneoplastic
encephalomyelitis with sensory
neuropathy.
clinical features of Marfan syndrome,
aortic dilatation, sudden death, no ocular
abnormalities.
dwarfism, metaphyseal dysplasia,
contractural deformities, dysmorphic
facies.
myopathy mitochondrialexternal ophthalmoplegia 2
autosomal dominant
mitochondrial
Genus Clinical Database
severe destructive skin lesions, at birth
or in infancy, involving mucosal
surfaces, fingers fusion, severe
contractures, ocular changes.
Fanconi syndrome due to
complementation group D.
mental/motor delay, seizures,
dysmorphism, gingival hyperplasia,
cherry red spots, long bones/vertebral
anomalies, edema, deafness, other
defects. Occasionally fetal
ascites/oedema.
cirrhosis, ascites, icterus in infancy,
weakness, mental deterioration, neuromuscular abnormal glycogen
accumulation.
congenital night blindness.Eye isolated
anomaly.
variation im susceptibility/resistance to
virus-1 infection.
early infancy onset; mental retardation,
hypotonia, seizures, lethargy;
hyperglycinemia due to defect in
enzyme of the glycine-cleavage system
different from NKH1 and NKH3.
flat facies with depressed nasal bridge,
cleft palate, multiple congenital
dislocations, cylindrical-nontapering
fingers, multiple carpal ossification
centers.
myopathy, progressive external
ophthalmoplegia.
chromosome 3p localization
Bibliography[OMIM]:
Genome Res.5,305308,1995
600971
131750
Prenat.Diagn.20,618622,2000
131850
226600
227646
230500
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 450
232500
Nature Genet.9,358365,1996
Nature 381,661666,1996
238310
150250
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 286
Hum.Mol.Genet.4,160
3-1607,1995
600163
Prenat.Diagn.19,677680,1999
182280
190020
154705
156400
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 386
Am.J.Hum.Genet.58,7
63-769,1996
601226
Prenat.Diagn.20,426431,2000
18 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
olivopontocerebellar III
autosomal dominant
Pallister-Hall syndrome
supposed autosomal dominant
ataxia, dysarthria, characteristic retinal
changes, infancy/adult onset.
hypothalamic hamartoblastoma,
acidosis, lethargy, jaundice, ocular
defects, hypogonadism, dysmorphism,
multiple mouth frenula, imperforate
anus, polydactyly. Occasionally
increased nuchal translucency and
hydrops.
pituitary adenoma ACTHsecreting
autosomal dominant
pseudo-Zellweger syndrome
autosomal recessive
Refetoff syndrome
autosomal recessive
renal cell carcinoma-1
autosomal dominant
thyroid carcinoma follicular
supposed autosomal dominant
thyroid hormone resistance
autosomal dominant
thyrotropin-releasing hormone
deficiency
autosomal recessive
Turcot syndrome
autosomal recessive
von Hippel-Lindau syndrome
autosomal dominant
Waardenburg IIA syndrome
supposed autosomal dominant
Wernicke-Korsakoff syndrome
autosomal recessive
xeroderma pigmentosum III
autosomal recessive
prenatal growth failure, severe
hypotonia, feeding difficulties,
convulsions, hepatomegaly, cerebral
depression, cataract, single umbilical
artery, other oculo-visceral anomalies.
goiter, deafmutism, stippled epiphyses.
Bibliography[OMIM]:
164500
146510
Prenat.Diagn.20,670672,2000
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 186
Europ.J.Clin.Invest.25,
128-131,1995
261510
274300
144700
flank mass pain, hematuria, other
symptoms. Occasionally congenital form.
188470
follicular thyroid carcinoma.
goiter, without thyrotoxicosis, serum free 188570
thyroid hormone high levels, normal
TSH.
clinical findings of hypothyroidism, short 275120
stature.
clinical evidence of brain tumor, such
as, astrocytoma, medulloblastoma/glial
cell tumor/pituitary adenoma, and
intestinal adenomatous polyposis.
retinal/cerebellar hemangioblastoma,
spinal cord compression, ocular cysts,
visceral cysts, angiomatosis, renal
tumor, pheochromocytoma.
deafness, broad nasal bridge, synophry,
heterochromia irides, other ocular
defects, white forelock, skin
depigmentation, no dystopia canthorum;
occasionally megacolon.
alcoholic vulnerability, fibroblasts with
transketolase defect.
xeroderma pigmentosum type C,
keratoacanthomas, particularly prone to
malignant melanoma; occasionally
cataract, corneal clouding.
276300
193300
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 511
193510
277730
278720
chromosome 3q localization
alkaptonuria
autosomal recessive
atransferrinemia
supposed autosomal recessive
blepharophimosis-ovarian
failure
sex-limited, sex influence
supposed contiguous genes
supposed genetic heterogeneity
autosomal dominant
supposed contiguous genes
blepharophimosis-ptosisepicanthus inversus 1
Genus Clinical Database
brown/black standing urine,
pigmentation of the sclerae/cartilages,
sweet/cerumen dark, arthritis.
total absence of transferrin, severe
hypochromic anemia, severe
hemosiderosis.
blepharophimosis, epicanthus inversus,
ptosis, premature ovarian failure.
Female-limited disease.
lid anomalies, blepharophimosis, ptosis,
epicanthus inversus, distopia
canthorum, other ocular defects, mild
mental retardation, cardiac defects,
hypotonia.
chromosome 3q localization
203500
209300
110100
110100
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 232
19 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Charcot-Marie-Tooth neuronal
type B
autosomal dominant
Am.J.Hum.Genet.57,8
53-858,1995
600882
cholinesterasis atypical
autosomal dominant
coproporphyria
autosomal dominant
Cornelia de Lange syndrome
supposed autosomal dominant
peroneal muscular atrophy, pes cavus,
decreased median nerve conduction,
motor-sensory neuropathy neuronal
form.
prolonged apnea lasting longer than 10
minutes after suxamethonium
administration, during surgical
anesthesia.
acute attacks of abdominal pain,
neurologic defects, paralysis,
constipation, hallucinations, depression,
photosensitivity.
mental retardation, hirsutism, synophrys,
microcephaly, long philtrum, anteverted
nostrils, thin lips, limb defects, ocular
changes.
Dandy-Walker malformation
autosomal recessive
disaccharide intolerance I
autosomal recessive
Fanconi renotubular syndrome
Aperia type
autosomal recessive
Flaujeac factor deficiency
autosomal recessive
glaucoma 1adult open-angle
autosomal dominant
glutathione peroxidase
deficiency
autosomal dominant
histidine-rich glycoprotein
autosomal dominant
142640
hypercalcemia benign
autosomal dominant
hyperglycinemia ketotic II
autosomal recessive
hyperparathyroidism severe
neonatal
supposed autosomal recessive
hypertension essential
multifactorial
supposed autosomal dominant
autosomal dominant
thrombosis recurrent, thrombophilia,
embolisms, acute mesenteric
infarction.due to prothrombotic effect of
histidine-rich glycoprotein.
easy fatiguability, mild muscle
weakness, unconstant other disturbance
such as chondrocalcinosis, lipomas,
pancreatitis, nephrolithiasis, peptic ulcer.
infancy onset; vomiting, lethargy,
hypotonia, failure to thrive, ketoacidosis.
first weeks of life onset; failure to thrive,
constipation, vomiting, anemia,
hepatosplenomegaly, polydipsia,
seizures, hypotonia, fractures,
demineralization, renal calcinosis.
usually adult onset; primitive, high blood
pressure values.
malignant hyperthermia susceptibility
related to a gene located on
chromosome 3q.
Am.J.Hum.Genet.56,6
84-691,1995
600467
hyperthermia malignant
susceptibility 4
Genus Clinical Database
Bibliography[OMIM]:
177400
121300
122470
Prenat.Diagn.19,70670,1999
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag.88
cystic enlargement of the fourth ventricle 220200
due to posterior fossa cyst continuous
with the IV ventricle; agenesis of
cerebellar vermis and
Magendie/Luschka foramina; facultative
hydrocephalus, bulging occiput, mental
retardation.
222900
dehydration, failure to thrive,
fermentative diarrhea with ingestion of
sucrose, dextrin starch, but not
occurring with monosaccharides or
lactose.
227810
growth failure, poor appetite, distended
abdomen, thin limbs, sparse
subcutaneous fat, malabsorption,
hyperaminociduria, acidosis,
hypophosphatemia, rickets.
228960
asymptomatic deficiency of a
procoagulant factor.
601682
adult onset glaucoma.
Am.J.Hum.Genet.60,2
96-304,1997
138320
hemolytic syndromes with erythrocyte
glutatione peroxidase deficiency.
chromosome 3q localization
145980
232050
239200
145500
20 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
hypocalcemia benign familial
autosomal dominant
asymptomatic familial hypocalcemia,
with normal phosphatemia and
parathyroid hormone levels.
hypoceruloplasminemiaaceruloplasminemia
autosomal dominant
hypoparathyroidism familial
isolated
autosomal dominant
retinal degeneration, blepharospasm,
iron deposition in the basal ganglia,
without neurologic symptoms in
homozygous individuals.
isolated familial hypoparathyroidism;
occasionally cataract.
leukemia acute pre-B-cell
transcription factor-2
acute leukemia.
176311
Moebius syndrome 2
supposed multifactorial
undefinable
supposed autosomal dominant
asymmetric weakness of facial muscle.
Hum.Mol.Genet.5,136
7-1371,1996
601471
myelodysplasia syndrome 1
sporadic
myelodysplasia inducing reduction in
hemopoietic cell lines; occasionally
evolving in leukemia.
myelodysplasia--myeloid
leukemia factor 1
sporadic
supposed no genetic
myelodysplastic syndrome and/or acute
myeloid leukemia with NPM/MLF1
inframe fusion genes.
Proc.Nat.Acad.Sci.93,
1642-1647,1996
600049
Oncogene 12,265275,1996
601402
neutrophils lactoferrin
deficiency
autosomal recessive
optic atrophy juvenile type
oroticaciduria I
autosomal dominant
supposed autosomal recessive
supposed genetic heterogeneity
autosomal recessive
recurrent infections due to defect of
lactoferrin, a granulocyte iron-binding
protein. Normal granulocyte count.
early childhood/juvenile onset;
progressive decreased visual acuity due
to optic atrophy. Eye isolated anomaly.
pemphigus benign familial
autosomal dominant
retinitis pigmentosa rhodopsin
effect
autosomal dominant
retinitis pigmentosa-4
autosomal dominant
retinitis pigmentosa-5
autosomal dominant
thrombocytemia essential
supposed autosomal dominant
tremor essential
autosomal dominant
Usher III syndrome
autosomal recessive
megaloblastic anemia, crystalline orotic
acid in the urine, unresponsive to
vit.B12, responsive to pyrimidine
replacement therapy; growth retardation,
due to defect of two erythrocyte
enzymes: orotidine-5-primepyrophosphorylase and orotidine-5prime-phossphate decarboxylase.
Occasionally immunodeficiency and
congenital malformations.
chronic recurrent rash, vesicles, on
erythematous base in the intertriginous
areas axillar groins.
decreased dim light vision, and
constricted visual fields, with typical
retinal changes. Eye isolated anomaly.
decreased dim light vision, and
constricted visual fields, with typical
retinal changes. Eye isolated anomaly.
so-called retinitis pigmentosa-5 is the
same of retinitis pigmentosa-4.
thrombohemorrhagic manifestation, high
levels of platelets, increased
megakaryocytes, sideroblastic anemia.
hands/arms facial muscle/tongue
tremors, enhancing with fatigue and
emotion.
retinitis pigmentosa, occasionally
cataract, deafness at puberty, mental
retardation.
Bibliography[OMIM]:
Nature Genet. 8,303307,1994
601198
117700
146200
245480
165500
258900
169600
180100
180380
180102
187950
190300
276902
chromosome 4p localization
Genus Clinical Database
chromosome 4p localization
21 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
achondroplasia
autosomal dominant
supposed germinal mosaicism
cataract anterior polar 1
autosomal dominant
chondrodysplasia punctata
rhizomelic type 1
autosomal recessive
rhizomelic micromelia,
disproportionately large head, prominent
forehead, depressed nasal bridge,
trident hand, inverted interpedicular
distance of the lumbar spine,
protuberant abdomen.
cataract anterior polar. dense white
opacities of the central part of the
anterior lens capsule.May be associated
with other congenotal malformations of
the anterior segment of the eye. Eye
isolated anomaly.
rhizomelic dwarfism, microcephaly, flat
face, cataract, optic atrophy,
contractures, ichthyosis, alopecia.
chondrodysplasia punctata
rhizomelic type 2
autosomal recessive
craniosynostosis Adelaide type
supposed autosomal dominant
deafness neurosensory
autosomal dominant-6
autosomal dominant
progressive in low-frequencies
neurosensory deafness.
Ellis-van Creveld syndrome
autosomal recessive
telomeric dwarfism, postaxial
polydactyly, nail dysplasia, partial
harelip, natal teeth, genu valgum, small
thorax, upper lateral tibia hypoplasia,
cardiac defects, cataract, mental
retardation.
Huntington disease
autosomal dominant
genomic imprinting
hypochondroplasia
genetic heterogeneity
supposed autosomal dominant
supposed autosomal recessive
progressive choreic movements, usually
30-40 years onset, dementia, appearing
indipendently of the movements
disorders, first manifestations may be
paranoia, emotional instability.
Potentially paternal imprinting in juvenile
form.
short limbs, short/broad hands and feet,
no trident deformity, no facial
abnormality, occasionally cataract, X-ray
changes milder than achondroplasia.
hypodontia familial
autosomal dominant
mucopolysaccharidosis I
autosomal recessive
night blindness congenital
stationary type 3
autosomal dominant
phenylketonuria II
autosomal recessive
Genus Clinical Database
rhizomelic dwarfism, microcephaly, flat
face, cataract, optic atrophy,
contractures, ichthyosis, alopecia. No
some biochemical defects typical of the
type 1.
craniosynostosis, other mild skeletal
changes.
congenital agenesis of one or more
teeth, especially molars, in the
permanent teeth.
coarse facies, respiratory distress,
herniae, joint stiffness,
hepatosplenomegaly, mental
retardation, ocular defects, other clinical
data.
congenital night blindness with normal
fundi and visual acuity, without
progressive retinal degeneration. Eye
isolated anomaly.
severe muscular hypotonia, seizures,
mental retardation, other neurological
disorders.
chromosome 4p localization
Bibliography[OMIM]:
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 346
100800
115650
215100
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 390
222765
Prenat.Diagn.19,383385,1999
Hum.Molec.Genet.4,68
1-683,1995
600593
Hum.Mol.Genet.4,196
7-1972,1995
600965
225500
Prenat.Diagn.18,504506,1998
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 374
143100
Prenat.Diagn.19,450457,1999
146000
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 352
106600
252800
163500
180072
261630
22 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Bibliography[OMIM]:
pulmonary venous return
anomalous
supposed autosomal dominant
retinitis pigmentosa autosomal
recessive
autosomal recessive
genetic heterogeneity
neonatal intense cyanosis, respiratory
distress, hypoplastic right lung, due to
abnormal pulmonary venous
connections.
infantile, juvenile, adult onset; retinitis
pigmentosa.
retinitis pigmentosa CNCG1
type
autosomal recessive
autosomal recessive retinitis pigmentosa. Proc.Nat.Acad.Sci.92,
10177-10181,1995
Stargadt disease-4
autosomal dominant
genetic heterogeneity
degeneration of the macular area with
flecks, onset in first 2 decades. Eye
isolated anomaly.
thanatophoric dwarfism
autosomal dominant
micromelic dwarfism, very short
bones/ribs, H-shaped vertebral bodies,
curved femurs resembling telephone
receiver, no caudad narrowing of the
spinal canal, no clover-leaf skull,
occasionally macroencephaly.
Wolf-Hirschhorn syndrome
chromosomic
severe mental retardation, low birthweight, hypertelorism, microcephaly,
nose with Greek helmet appearance,
ocular defects, other anomalies,
monosomy 4p.
Wolfram syndrome
autosomal recessive
diabetes mellitus in infancy, optic
atrophy, cataract, diabetes insipidus,
deafness, neurological disorders,
sideroblastic anemia.
abetalipoproteinemia
autosomal recessive
albinism oculocutaneous II
autosomal recessive
alcoholism susceptibility
genetic heterogeneity
multifactorial
supposed autosomal dominant
supposed X-linked recessive
autosomal dominant
acanthocytes, steatorrea, ataxia, retinitis
pigmentosa, beta-lipoprotein absence
and very low serum cholesterol.
decreased skin/hair/eyes pigmentation,
nystagmus, photophobia, choroidoretinal
defects, iridal dyschromia, tyrosinase
positive test.
increased risk of alcoholism and its
pathologic effects.
106700
268000
180072
603786
Am.J.Hum.Genet.64,1
394-1399,1999
187600
Prenat.Diagn. 21,8995,2001
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 338
194190
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 38
222300
chromosome 4q localization
alpha-fetoprotein hereditary
persistence
amelogenesis imperfecta
hypocalcified I II
supposed autosomal dominant
amyloidosis VIII
autosomal dominant
analbuminemia
autosomal dominant
anterior segment mesenchymal autosomal dominant
dysgenesis
aspartylglycosaminuria
autosomal recessive
complement component C3
inactivator deficiency
autosomal recessive
Genus Clinical Database
200100
203200
103780
126452
hereditary asymptomatic persistence of
serum AFP.
104150
opaque/yellowish soft undercalcified
enamel with normal thickness in both
primary and secondary dentitions.
chronic nephropathy, hypertension,
hepatosplenomegaly, edema,
weakness, visceral amyloidosis.
edema in premenstrual period, high
erythrocyte sedimentation,
hypercholesterolemia.
visual acuity reduced, corneal
opacification, cataract, iridal changes.
Eye isolated anomaly.
pharyngeal tonsils enlarged, hernias,
mental retardation, coarse facies, bone
dysplasia, cataract.
infections recurrent pyogenic, due to IF
deficiency.
104500
chromosome 4q localization
105200
103600
107250
208400
217030
23 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
dentinogenesis imperfecta II
autosomal dominant
fibrinogen alpha-polypeptide
chain variant
autosomal dominant
fibrinogen beta-polypeptide
chain variant
autosomal dominant
fibrinogen gamma-polypetdide
chain variant
autosomal dominant
Fletcher factor deficiency
autosomal dominant
glutaricaciduria IIC
autosomal recessive
hemophilia C
autosomal recessive
hyperthyroxinemia
dysalbuminemic
autosomal dominant
interleukin-2 deficiency
autosomal dominant
iridogoniodysgenesis
supposed autosomal dominant
iris hypoplasia-glaucoma
Landouzy-Dejerine dystrophy
autosomal dominant
genetic heterogeneity
X-linked recessive
autosomal dominant
blue-gray/amber-brown teeth, bulbous
crowns, narrow roots, small pulp
chambers, readily splitting enamel.
dysfibrinogenemia/hypofibrinogenemia
due to fibrinogen alpha-subunit variant
inducing abnormal bleeding/abnormal
clotting.
dysfibrinogenemia/hypofibrinogenemia
due to fibrinogen beta-subunit variant
inducing abnormal bleeding/abnormal
clotting.
dysfibrinogenemia/hypofibrinogenemia
due to fibrinogen gamma-subunit variant
inducing abnormal bleeding/abnormal
clotting.
coagulation defect without abnormal
bleeding tendency inducing prolonged
activated PTT with normal prothrombin
time.
variable age onset; hypotonia, visceral
fatty degeneration, lethargy, coma,
sudden death. Mild and severe cases
occurring.
both sexes affected by mild congenital
hemorrhagic disease, usually following
surgery/severe trauma, rarely
spontaneous, due to reduced Factor XI
activity.
albumin variant and high tiroxine levels,
in euthyroid subjects; occasionally
conjunctival pinquecula.
clinical findings of severe
cellular/humoral immunodeficiency due
to IL2 defect.
hypoplastic, light in color iris, followed by
glaucoma. Eye isolated anomalies.
iris atrophy/hypoplasia, followed by
glaucoma. Eye isolated anomalies.
liver cancer-2
autosomal dominant
long QT syndrome 4
autosomal dominant
mannosidase-beta deficiency
autosomal recessive
mucolipidosis II
autosomal recessive
Genus Clinical Database
first two decades of life onset; facial
weakness with characteristic mask-like
expression, difficulty to smile, inability to
close the eyes during sleep, shouldergirdle involvement.
liver cancer occurring in chronic
hepatitis B virus infection.
abnormal prolungation of QT inducing
attacks of syncope, other cardiac
disturbances.
coarse face, growth delayed, mental
retardation, dystonia, irritability,
performance changes, angiokeratoma,
angioectasia.
coarse facies, gum hyperplasia, joint
contractures, kyphoscoliosis, lumbar
gibbus, cardiomegaly, hepatomegaly,
psychomotor retardation, ocular defects.
Occasionally fetal ascites/oedema.
Prenatal diagnosis reliably by electron
microscopy of chorionic villlus tissue.
chromosome 4q localization
Bibliography[OMIM]:
125490
134820
134830
134850
229000
231675
264900
103600
147680
137600
308500
158900
142380
Am.J.Hum.Genet.57,1
114-1122,1995
600919
Prenat.Diagn.19,677680,1999
248510
252500
Prenat.Diagn.19,252256,1999
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 452
24 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
mucolypidosis III
Inheritance:
Synthesis:
autosomal recessive
stifness, short stature, short trunk,
coarse face, Hurler-like skeletal
changes, multiple dysostosis,
osteoporosis, corneal opacities, other
ocular changes, normal liver/spleen, no
acid mucopolysacchariduria.
childhood/middle age onset; limb-girdle
muscular dystrophy, weakness, scapular
winging, high CPK, other laboratory data.
252600
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 454
essential tremor, progressive akinetorigidity, shuffling gait, speech/language
difficulties beginning in adult years.
Occasionally, dysautonomia, dementia.
juvenile onset; progresive periodontal
disease, characterized by chronic
gengival inflammation leading to alveolar
ridge resorption, premature loss of teeth.
pigmentation defect on the face, on the
body ventral surfaces, white forelock,
iridal changes, other clinical data.
adult type of polycystic kidney without
linkage to markers on chromosome 16p.
glomerular endotheliosis, hypertension,
edema, proteinuria, eclampsia during
pregnancy.
unresponsiveness tyomineralocorticoids,
limited mainly to the kidney. Clinical
expression less severe than the most
frequent autosomal recessive type.
signs of a salt-wasting syndrome,
without renal/adrenal disease, failure to
thrive, anorexia, vomiting, dehydration,
lethargy, collapse. Salt wasting due to
target multiple organ unresponsiveness
to mineral corticoids.
iris/cornea dysgenesis, primary
glaucoma, other ocular changes,
incisors absence, flat midface,
periumbilical skin persistance, other
defects.
168600
601508
556500
muscular dystrophy limb-girdle autosomal recessive
type 2E
genetic heterogeneity
Bibliography[OMIM]:
Nature Genet.11,266273,1995
600900
Parkinson disease
multifactorial
supposed autosomal dominant
supposed mitochondrial
periodontitis juvenile
autosomal dominant
piebald trait
autosomal dominant
polycystic kidney disease 2
autosomal dominant
preeclampsia
sporadic
supposed autosomal dominant
pseudohypoaldosteronism I
autosomal dominant type
autosomal dominant
autosomal recessive
genetic heterogeneity
pseudohypoaldosteronism I
recessive type
autosomal dominant
autosomal recessive
genetic heterogeneity
Rieger sequence-1
autosomal dominant
sclerotylosis
autosomal dominant
skin scleroatrophic lesions, nails
dysplasia, palmoplantar keratodermia,
skin cancer and bowel cancer tendency.
Cockayne I syndrome
autosomal recessive
cachexia, growth/mental development
reduced, loss adipose tissue, retinal
degeneration, cataract, choroidoretinal
changes, senile appearance, skin
photosensitivity.
myelodysplasia--myeloid
leukemia factor 1
sporadic
supposed no genetic
myelodysplastic syndrome and/or acute
myeloid leukemia with NPM/MLF1
inframe fusion genes.
Tay-Sachs disease AB variant
autosomal recessive
tyrosinemia III
supposed autosomal recessive
psychomotor delay, seizures, hypotonia, 272750
visual defect, choroidoretinal changes,
apathy, exagerated responses to sound.
276710
mild mental deficiency, without hepatic
dysfunction.
170650
172800
173910
189800
177735
264350
600761
600760
180500
601542
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 592
181600
chromosome 5 localization
Genus Clinical Database
chromosome 5 localization
216400
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 144
Oncogene 12,265275,1996
601402
25 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
autosomal recessive
xeroderma pigmentosum type C,
keratoacanthomas, particularly prone to
malignant melanoma; occasionally
cataract, corneal clouding.
278720
chondrocalcinosis
autosomal dominant
118600
complement component C6
deficiency
autosomal recessive
acute intermittent attacks of arthritis,
calcium deposition in articular cartilage,
and crystals in synovial fluids cartilage
and periarticular soft tissue.
infections recurrent neisserial.
complement component C7
deficiency
autosomal recessive
infections recurrent neisserial.
217070
craniometaphyseal dysplasia
dominant form
genetic heterogeneity
supposed autosomal dominant
supposed autosomal recessive
hypertelorism, mandibular enlargement,
frontonasal swelling, cranial neuropathy,
optic atrophy, deafness, nasal
obstruction.
hypospadias perineoscrotal
pseudovaginal syndrome
autosomal recessive
methylcobalamin deficiency
sporadic
pituitary dwarfism Laron type
sex-limited, sex influence
supposed autosomal recessive
Tildon disease
supposed autosomal recessive
46,XY male, external genitalia
resembling feminine in characters,
perineal hypospadias with separate
urethral and vaginal openings within
urogenital sinus. Male limited disease.
megaloblastic anemia, severe
developmental delay, hypotonia,
weakness, lethargy.
normal length at birth, proportionate
short stature, bone maturation/sexual
development delayed, truncal obesity,
high-pitched voice, small face, saddle
nose, high hGH plasmatic levels.
severe intermittent ketoacidosis due to
succinyl-CoA:3-ketoacid CoAtransferase deficiency.
123000
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 395
264600
xeroderma pigmentosum III
Bibliography[OMIM]:
chromosome 5p localization
217050
236270
262500
600946
245050
601424
chromosome 5q localization
achondrogenesis IB
autosomal recessive
micromelia, bone ossification deficiency, Am.J.Hum.Genet.55,1
137-1145,1994
fractures.
600972
anemia macrocytic refractory
contiguous genes
supposed autosomal dominant
anemia megaloblastic DHFR
deficiency
autosomal dominant
refractory macrocytic anemia associated 153550
with chromosome 5q- in erythropoietic
system.
126060
megaloblastic anemia due to
dihydrofolate reductase deficiency.
arthrogryposis multiple
congenital neurogenic type
autosomal recessive
contractures and spinal motor neurons
lesions.
208100
atelosteogenesis II
supposed autosomal recessive
Pediatr.Radiol.17,112118,1987
atopic IgE responsiveness
autosomal dominant
genomic imprinting
multifactorial
severe micromelia, spinal abnormalities,
spondylo-humero-femoral hypoplasia,
bowed long bones, abnormal pelvis with
horizontal sacrum, cervical kyphosis
with lumbosacral hyperlordosis;
characteristic cartilage changes. May be
the same of de la Capelle synndrome.
increased risk of allergic manifestations,
asthma, hay fever, eczema, due to
exuberant IgE responses to minute
amounts of antigen. Potentially maternal
imprinting.
Genus Clinical Database
chromosome 5q localization
147050
600807
601690
26 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
atrial septal AV conduction
defects
autosomal dominant
Avellino corneal dystrophy
autosomal dominant
atrial septal defect secundum or fossa
ovalis type, and atrioventricular
conduction defect.
corneal dystrophy with both lattice and
granular histologic features. Eye isolated
anomaly.
contractural-arachnodactyly
autosomal dominant
corneal dystrophy granular type autosomal dominant
corneal dystrophy lattice type I
autosomal dominant
cutis laxa recessive type I
autosomal recessive
deafness low frequency I
autosomal dominant
desmoid disease
autosomal dominant
diastrophic dysplasia
autosomal recessive
eosinophilia familial
autosomal dominant
Gardner syndrome
autosomal dominant
glucocorticoid receptor
deficiency
autosomal dominant
Hageman factor deficiency
autosomal recessive
Klippel-Feil IV syndrome
supposed autosomal recessive
Kok disease
autosomal dominant
Genus Clinical Database
Marfan-like/arthrogryposis features,
multiple joints contractures, tall stature,
long thin fingers, crumpled ears,
kyphoscoliosis, ocular changes.
hyaline degeneration in the corneal
stroma, demarcated grayish-white
simmetric opacities. Development in the
first or second decades of life. Full
penetrance of the gene. Eye isolated
anomaly.
hyaline degeneration in the stroma,
recurrent ulceration. Eye isolated
anomaly.
multiple diverticula, pulmonary
emphysema, aneurysms, herniae, other
clinical findings suggesting generalized,
severe elastolysis, bladder diverticula.
sensorineural deafness, progressive lowfrequencies loss.
abdominal mass due to infiltrative
fibromatosis of the mesentery
resembling Gardner disease, inducing
bowel perforations, occlusions. APC
gene mutations.
short limbed dwarfism rhizomelic type,
scoliosis, clubfeet, joint deformities,
"hitchhiker" thumb, brachysymphalangism, ear chartilage
calcification, ocular defects.
asymptomatic, increased number of
eosinophils, and mild ovalocytosis
without recognized causes.
multiple colorectal polyposis associated
with various sorft- and hard- tissue
tumors incuding, osteomas, dermoids,
fibromas; dental growth defects, retinal
changes, liver cysts; occasionally
Horner syndrome. High likelihood of
colorectal cancer.
hypertension, atherosclerosis, polycystic
ovarian due to hyperandrogenism, acne,
hirsutism, other stigmata of
hypercorticism.
thromboembolic disease, normal
bleeding time, without hemorrhagic
disease and prolonged partial
thromboplastin time.
cervical, upper thoracic, lumbar vertebral
fusion.
hypertonia, muscular rigidity at birth,
exaggerated startle response to
unexpected acoustic/tactile stimuli,
respiratory muscle spasm,
inguinal/umbilical hernia.
chromosome 5q localization
Bibliography[OMIM]:
108900
Genetic Diseases of
the Eye. Ed. Elias I.
Traboulsi 1998 p.228
121900
121050
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 476
121900
Genetic Diseases of
the Eye. Ed. Elias I.
Traboulsi 1998 p.226
Genetic Diseases of
the Eye. Ed. Elias I.
Traboulsi 1998 p.232
122200
219100
124900
135290
222600
Prenat.Diagn.18,378383,1998
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 376
131400
175100
138040
234000
214300
149400
27 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
leukotriene C4 synthetase
deficiency
supposed autosomal recessive
mucopolysaccharidosis VI
autosomal recessive
platelets with reduction of glutathione
levels, due to leukotriene C4 synthetase
deficiency.
coarse facies, corneal clouding,
deafness, joint stiffness,
hepatosplenomegaly, lumbar kyphosis,
X-ray changes, herniae.
muscular atrophy intermediate
type
autosomal recessive
muscular atrophy juvenile type
autosomal dominant
autosomal recessive
genetic heterogeneity
supposed autosomal dominant sexlimited, sex influence
muscular dystrophy limb-girdle autosomal dominant
type 1A
muscular dystrophy limb-girdle autosomal recessive
type 2A
muscular dystrophy limb-girdle autosomal recessive
type 2F
O'Rahilly syndrome
supposed autosomal recessive
undefinable
polyposis entire
gastrointestinal tract
supposed autosomal dominant
Reis-Bucklers corneal
dystrophy
autosomal dominant
renal cell carcinoma-3
sporadic
supposed autosomal dominant
retinitis pigmentosa autosomal
recessive
autosomal recessive
genetic heterogeneity
retinitis pigmentosa PDE6A type autosomal recessive
Sandhoff disease
autosomal recessive
schizophrenia-1
autosomal dominant
genetic heterogeneity
multifactorial
undefinable
Tay-Sachs disease AB variant
autosomal recessive
Genus Clinical Database
first year onset; hypotonia, weakness
with prolonged course, extending over
several years, intermediate form
between Werdnig-Hoffman syndrome
and Kukelberg-Welander syndrome.
after 2nd year or later onset; weakness,
progressive muscular atrophy, starting in
the proximal muscles resembling
Duchenne type, fine tremor of
outstretched arms. Males more severely
affected.
late onset; slow progression involving
proximal limb muscles, sparing the face;
high creatine kinase levels, linkage with
the Pelger-Huet gene.
second decade onset; hip/shoulder
proximal muscles weakness, difficulty
climbing, stairs/holding hands above
head, low back pain, occasionally
cardiomyopathy/pseudohypertrophy/high
serum creatine kinase levels.
severe muscular dystrophy, myopathy
starting in lower limb.
primary amenorrhea, obesity,
hypogonadism, postprandial
hypoglycemia, hypoinsulinemia.
adenomatous polyposis involving entire
gastrointestinal tract, bleeding,
abdominal pain, diarrhea, early
development of symptoms, cancer
susceptibility.
dusty opacity, rough map-like surface
primarily in Bowman membrane. Eye
isolated anomaly.
flank mass pain, hematuria, other
symptoms. Sporadic nonpapillary renal
cell carcinoma. Occasionally congenital
form.
infantile, juvenile, adult onset; retinitis
pigmentosa.
Bibliography[OMIM]:
246530
253200
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 468
253550
603011
253400
603011
159000
253600
Nature Genet.14,195198,1996
601287
600955
162150
175000
121500
Genetic Diseases of
the Eye. Ed. Elias I.
Traboulsi 1998, p.223
179760
190020
268000
180072
autosomal recessive retinitis pigmentosa. Nature Genet.11,468471,1995
268800
weakness, startle reaction, blindness,
mental deterioration, coarse doll-like
face, cherry red spots, macrocephaly,
hepatosplenomegaly, skeletal changes,
orthostatic hypotension.
181510
juvenile/adult onset; psychotic
syndromes in previously normal subject,
schizophrenic disorders, paranoid
hebephrenic disturbance, hallucinations,
delusions.
psychomotor delay, seizures, hypotonia, 272750
visual defect, choroidoretinal changes,
apathy, exagerated responses to sound.
chromosome 5q localization
28 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Bibliography[OMIM]:
Treacher-Collins-Franceschetti
syndrome
autosomal dominant
midface hypoplasia, downward slant of
palpebral fissures, colobomata lower
lips, microtia, micrognathia, deafness,
ocular changes.
Turcot syndrome
autosomal recessive
vitreoretinal degeneration
Wagner type
autosomal dominant
clinical evidence of brain tumor, such
as, astrocytoma, medulloblastoma/glial
cell tumor/pituitary adenoma, and
intestinal adenomatous polyposis.
143200
nightblindness, myopia, retinal
dystrophy, presenile cataract, glaucoma,
deafness.
154500
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 250
276300
chromosome 6 localization
CHARGE syndrome
supposed autosomal recessive
choanal atresia, heart anomalies, ocular
colobomas, choroidoretinal defects,
mental retardation, growth deficiency,
hypogenitalism, triangular shape of the
concha.
immunodeficiency late onset
autosomal recessive
narcolepsy
autosomal dominant
genomic imprinting
pancreatic beta cell agenesisneonatal diabetes
supposed autosomal recessive
Infections tendency, normal B
lymphocytes, lacking mechanism for
plasma cell differentiation. Partial
deletions of IgH genes (?)
infancy or later onset; irresistible sleep
episodes, occasionally sleep apnea,
attacks of cataplexy, i.e. abrupt
reversible loss of muscle tone.
Potentially maternal imprinting.
neonatal diabetes mellitus, severe
organic acidemias.
schizophrenia-3
autosomal dominant
214800
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 668
240500
161400
Diabetologia 36,352357,1993
600089
Genomics 43,1-8,1997
uvenile/adult onset; psychotic
syndromes in previously normal subject, 600511
schizophrenic disorders, paranoid
hebephrenic disturbance, hallucinations,
delusions.
chromosome 6p localization
adrenal hyperplasia III
autosomal recessive
adrenal hyperplasia III late
onset
autosomal recessive
adrenal hyperplasia V
autosomal recessive
agranulocytosis infantile
autosomal recessive
atrial septal defects
autosomal dominant
multifactorial
Genus Clinical Database
masculinization of the externa genitalia,
female pseudohermaphroditism with
ovaries and uterus and presence of a
prostate, skin pigmentation around
genitalia, salt loss, electrolyte
disturbances.
late childhood/puberty,
virilization/somatic advance due to
excessive secretion of adrenal
androgens.
mild hypertension, hypokalemic
alkalosis, amenorrhea, absent sexual
maturation, low plasma renin,
ambiguous genitalia, prominent breast in
males.
congenital neutropenia, severe recurrent
infections.
isolated atrial septal defect, ostium
primum or ostium secundum (fossa
ovalis) type.
chromosome 6p localization
201910
201910
202110
202700
108800
29 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Bardet-Biedl syndrome type 2
autosomal recessive
postaxial polydactyly, hypogonadism,
obesity, mental retardation, pigmentary
retinopathy. Chromosome 16q
localization.
Bietti corneoretinal dystrophy
autosomal recessive
celiac disease
multifactorial
supposed autosomal recessive
Char syndrome
sporadic
nightblindness, visual fields reduction,
due to glistening intraretinal dots
scattered over the fundus, retinal and
choroidal vessels degeneration. Eye
isolated anomaly.
diarrhea, steatorrhea, wieght loss,
abdominal distention, anemia, fecal
electrolyte loss, dermatitis herpetiformis,
small bowel mucosa flattened, remission
on a gluten-free diet.
connective tissue disorder characterized
by cutis laxa, joint laxity, joint
dislocations, sub-aortic stenosis,
skeletal changes.
cleidocranial dysplasia
autosomal dominant
supposed autosomal recessive
supposed genetic heterogeneity
persistently open skull sutures, bulging
calvarium, clavicles hypoplasia,
abnormal facility in apposing the
shoulders, oligodontia, short stature,
deafness, other anomalies.
complement component C 4s
deficiency
autosomal dominant
lupus systemic-like syndrome.
complement component C2
deficiency
autosomal recessive
complement component C4f
deficiency
autosomal dominant
complement C-2 defect occurring in
wide variety of disease, such as renal
disease, recurrent infections, skin
rashes, autoimmune diseases.
lupus systemic syndrome due to C4F
deficiency.
cone dystrophy 3
autosomal dominant
central vision loss, color loss, cone
dystrophy, photophobia.
deafness neurosensory
autosomal dominant-13
autosomal dominant
postlingual progressive deafness
diabetes mellitus insulindependent 1
genetic heterogeneity
multifactorial
supposed autosomal recessive
dyslexia 2
autosomal dominant
juvenile onset, polyuria, polydipsia,
antibodies to pancreatic islet beta cells,
ketoacidosis, vascular changes,
increased in autoimmuno diseases.
slow reading, reduced comprehension,
words distortion or mission associated
with behavioral and emotional
dysfunctions
congenital hemorrhagic disorder,
umbilical cord bleeding, ecchymoses,
hematomas, intracranial bleeding.
multiple uniform yellow-white dots,
congenital stationary night blindness. No
macular involvement. Eye isolated
anomaly.
Factor XIII-A subunit deficiency autosomal dominant
fleck retina fundus
albipunctatus
genetic heterogeneity
supposed autosomal dominant
supposed autosomal recessive
glyoxalase II deficiency
autosomal dominant
asymptomatic enzymatic defect.
hemochromatosis type 1
autosomal recessive
adult onset; hypertrophic cirrhosis,
diabetes mellitus, melanodermia,
articular pain with/without
chondrocalcinosis, progressive
infantilism, secondary gonadal atrophy,
other findings, eventualyy to cirrhosis
and hepatocellular carcinoma.
Genus Clinical Database
chromosome 6p localization
Bibliography[OMIM]:
209900
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 590
210370
Genetic Diseases of
the Eye. Ed. Elias I.
Traboulsi 1998 p.241
212750
Proc.Gr.Genet.Center
6,174-177,1987
169100
Circulation 99,30363042,1999
119600
600211
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 408
120810
217000
120820
602093
Hum.Mol.Genet.7,273277,1998
Am.J.Hum.Genet.60,7
58-764,1997
601868
222100
600202
Science 266,276279,1994
134570
136880
Genetic Diseases of
the Eye. Ed. Elias I.
Traboulsi 1998 p.391
138760
235200
602254
30 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
hemolytic anemia Konrad type
autosomal recessive
hydronephrosis familial
autosomal dominant
immotile cilia syndrome
Polynesian type
autosomal recessive
laryngeal paralysis adductor
autosomal dominant
macular dystrophy atypical
vitelliform
autosomal dominant
macular dystrophy butterflyshaped pigmentary
supposed autosomal dominant
nonspherocytic hemolytic anemia,
infancy and adult onset, spinocerebellar
ataxia, reduced GSH in erythrocytes.
congenital unilateral/bilateral
hydronephrosis, megalo-idroureters,
obstructive uropathy.
respiratory infections, bronchiectasis
due to defects in the motor mechanism
of cilia.
hoarsenes since birth, due to bilateral
partial/complete paralysis of adductor
vocal cord, without episodes of
aspiration.
small yellow lesions in the macula and
peripapillary region. Eye isolated
anomaly.
bilateral macular pigment dystrophy,
butterfly-shaped. Eye isolated anomaly.
maple syrup urine disease 3
autosomal recessive
methylmalonicaciduria MCM
deficiency
autosomal recessive
molybdenum cofactor
deficiency type A
autosomal recessive
myoclonus-epilepsy Janz type
autosomal recessive
Nance-Sweeney syndrome
autosomal recessive
nystagmus congenital
autosomal dominant
genetic heterogeneity
supposed autosomal recessive
autosomal dominant
olivopontocerebellar I
orofacial cleft 1
autosomal dominant
genetic heterogeneity
genomic imprinting
multifactorial
Paget syndrome
supposed autosomal dominant
polycystic kidney infantilejuvenile type
autosomal recessive
polycystic kidney perinatalneonatal type
autosomal recessive
Genus Clinical Database
clinical features similas to MSUD 1, due
to E-1beta subunit deficiency.
first months onset; failure to thrive,
vomiting, dehydration, respiratory
distress, hypotonia, acidosis, ketonuria,
lethargy, coma.
dysmorphism, psychomotor retardation,
hypertonia, neonatal seizures,
encephalopathy, lens dislocation.
myoclonic epilepsy, juvenile onset,
isolated myoclonic, jerks, usually in the
morning.
short-limbed dysplasia, dysmorphism,
severe depressed nasal bridge,
deafness, epi-metaphyseal changes,
joint contractures.
congenital nystagmus. Eye isolated
anomaly.
adult onset; progressive ataxia,
dysarthria, tremors, involuntary choreic
movements.
complete or incomplete clefts of the
upper lip, unilateral or bilateral, including
posterior alveolar processes, and
anteriorly alae nasi. Potentially paternal
imprinting.
progressive asymmetric enlargement
skull/shins, severe bone pain, X-ray
lucency/sclerosis, ocular defects, serum
alkaline phosphatase elevated.
infantile/juvenile onset; renal
enlargement, renal failure,
nephronophthisis, hypertension, heart
failure, hepatic fibrosis, portal
hypertension.
perinatal/neonatal onset;
oligohydramnios, Potter facies, massive
palpable enlarged kidneys,
nephronophthisis, distended abdomen,
hematuria, oliguria, pulmonary
hypoplasia, liver enlargement.
chromosome 6p localization
Bibliography[OMIM]:
230450
143400
242650
150270
153840
153860
248611
251000
252150
Prenat.Diagn.19,386388,1999
Prenat.Diagn.20,711,2000
254770
215150
164100
164400
601556
119530
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 236
167250
263200
263200
31 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
pseudohermaphroditism male
internal
autosomal recessive
renal glycosuria
autosomal recessive
retinitis pigmentosa digenic
autosomal dominant
normal external genitalia and testes in
males 46, XY, with uterus and falloppian
tubes, prolapsing into inguinal hernia;
cancer tendency in cryptorchid testes.
glycosuria with normal oral glucose
tolerance test, redused renal titration
test.
autosoma dominant retinitis pigmentosa
due to RDS and ROM1 gene.
retinitis pigmentosa-14
autosomal recessive
retinitis pigmentosa-7
autosomal dominant
sialidosis I
supposed autosomal recessive
sialidosis II
supposed autosomal recessive
spine ligament ossification
undefinable
spondylitis ankylosing
autosomal dominant
Stargardt disease-3
autosomal dominant
genetic heterogeneity
Stickler syndrome II
autosomal dominant
Tucker syndrome
supposed autosomal dominant
Bibliography[OMIM]:
261550
600957
233100
Scienze 264,16041608,1994
180721
autosomal recessive retinitis pigmentosa. 600132
Nature Genet.18,177179, 1998
179605
retinal degeneration due to specific
retinal protein mutation. Eye isolated
anomaly.
second decade onset; decreased visual 256550
acuity, cherry red spots, cataract,
corneal opacity, myoclonus without
somatic/bony abnormalities.
Occasionally fetal ascites/oedema. No
mental retardation.
256550
cherry red spots, myoclonus without
somatic/bones anomalies. Occasionally
fetal ascites/oedema.
602475
ossification of the posterior longitudinal
ligament of the spine, inducing
paresis/tetraparesis due to spinal-cord
compression. Heterotopic ossification
occurs only in joint capsules, ligaments,
etc.
106300
2nd 3rd decades onset; chronic low
back pain, stiffness followed by severe
dorsolumbar spine limitation of motion,
severe chest expansion limitation, HLAB27 presence.
Arch.Ophthal.112,765progressive macular dystrophy
772,1994
resembling Stargardt disease. Eye
isolated anomaly.
600110
clinical data resembling Stickler
syndrome I.
adult onset; Paget-like bone disorders,
insidious progressive weakness,
muscular atrophy, quadriparesis,
dementia, optic atrophy.
184840
167320
chromosome 6q localization
albinism ocular Witkop
o'Donnell type
autosomal recessive
nystagmus, photophobia, translucent
irides. Eye isolated anomaly.
203310
argininemia
autosomal recessive
207800
arthropathy progressivespondyloepiphyseal dysplasia
tarda
autosomal recessive
cardiomyopathy Messina type
autosomal dominant
spastic paraplegia, seizures, severe
mental retardation.
progressive arthropathy, about 3 years
age onset, joint stiffness suggesting
rheumatoid arthritis, osseous distension
of the terminal phalanges bone
dysplasia spondyloepiphyseal type.
dilated cardiomeyopathy with conduction
defect and adult-onset limb-girdle
muscular dystrophy.
Genus Clinical Database
chromosome 6q localization
208230
Am.J.Hum.Genet.61,9
09-917,1997
602067
32 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
chondrodysplasia punctata
rhizomelic type 1
autosomal recessive
rhizomelic dwarfism, microcephaly, flat
face, cataract, optic atrophy,
contractures, ichthyosis, alopecia.
chondrodysplasia punctata
rhizomelic type 2
autosomal recessive
chorioretinal atrophy bifocal
autosomal dominant
rhizomelic dwarfism, microcephaly, flat
face, cataract, optic atrophy,
contractures, ichthyosis, alopecia. No
some biochemical defects typical of the
type 1.
progressive chorioretinal atrophy. Eye
isolated nomaly.
deafness neurosensory
autosomal dominant-10
autosomal dominant
late-onset progressive sensorineural
hearing loss.
diabetes mellitus insulindependent 15
autosomal dominant
diabetes mellitus insulin-dependent.
diabetes mellitus insulindependent 5
autosomal dominant
diabetes mellitus insulin-dependent.
diabetes mellitus insulindependent 8
autosomal dominant
diabetes mellitus, insulin dependent.
diabetes neonatal permanent
sporadic
supposed genomic imprinting
diabetes neonatal transient
genomic imprinting
foveal dystrophy progressive
autosomal dominant
permanent neonatal diabetes insulindependent in infants small-for-date;
occasionally exocrine pancreatic
insufficiency. Occasionally paternal
uniparental isodisomy of chromosome 6.
Chromosome 6q localization?
neonatal diabetes, intrauterin growth
retardation, failure to thrive, resolving
within the first months of life; often
remains permanent; later in life may
develop diabete II or even insulin
resistant. Paternal imprinting.
progressive macular dystrophy, without
color vision defect. Eye isolated
anomaly.
Fukuyama syndrome
autosomal recessive
generalized weakness, hypotonia,
cataract, choroidoretinal changes, optic
atrophy, mental retardation, seizures,
micro-lissencephaly.
hereditary mixed polyposis
syndrome
autosomal dominant
intestinal polyps, colonic adenomas,
colorectal carcinomas. May be a variant
of juvenile polyposis.
premature coronary atherosclerosis.
hyperlipoproteinemia Lp(a)
autosomal dominant
merosin-deficient congenital
muscular dystrophy
autosomal recessive
mycobacterial susceptibility
autosomal dominant
mycobacteriosis familial
autosomal recessive
myoclonus-epilepsy Lafora type supposed autosomal recessive
Genus Clinical Database
Bibliography[OMIM]:
215100
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 390
222765
Prenat.Diagn.19,383385,1999
Hum.Molec.Genet.4,16
53-1656,1995
600790
Hum.Molec.Genet.5,85
3-856,1996
601316
Am.J.Hum.Genet.60,1
74-187,1997
601666
Nature 371,130136,1994
600320
Am.J.Hum.Genet.57,9
11-919,1995
600883
Eur.J.Pediatr.
154(12),944-948,1995
Arch.Dis.Child.Fetal
Neonatal Ed.
76(1):F39-F42,1997
Hum.Molc.Genet.5,111
7-1121,1996
601410
J.Perinatol.16(4),288291,1996
136550
Genetic Diseases of
the Eye. Ed. Elias I.
Traboulsi 1998 p.367
253800
156225
Hum.Genet.99,535540,1997
Am.J.Hum.Genet.58,7
70-776,1996
601228
152200
156225
Hum.Genet.99,535540,1997
disseminated, generalized familial BCG
infection due to partial IFNGR1
deficiency.
atypical disseminated BCG infection
after newborn inoculation inducing
intestinal disturbance, osteomyelitis,
macrophage defect.
grand mal attacksand, myoclonus,
juvenile onset, severe mental
deterioration, psychosis, Lafora bodies.
chromosome 6q localization
209950
254780
33 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
oculo-dento-digital syndrome
autosomal dominant
autosomal recessive
genetic heterogeneity
supposed contiguous genes
ovarian tumor
autosomal dominant
hypoplastic alae nasi, narrow nostrils,
microcornea, cataract, primary
glaucoma, other ocular defects,
microdontia, hypoplastic enamel, IV-V
syndactyly, other skeletal defects.
Occasionally reported in oculo-dentodigital, oculo-palato-cerebral, protein C
deficiency. More severe ocular affection
in the recessive form.
familial ovarian tumors,
dysgerminomas/cancer, papillary
adenocarcinoma.
Parkinson disease juvenile
autosomal recessive
plasminogen deficiency
autosomal dominant
retinal cone dystrophy-1
autosomal dominant
retinitis pigmentosa-25
autosomal recessive
sialuria
autosomal recessive
Viljoen-Smart syndrome
supposed autosomal dominant
essential tremor, progressive akinetorigidity, shuffling gait, speech/language
difficulties beginning ibefore age 40
years.
recurrent thromboembolic disease,
hypercoagulability. May cause severe
ligneous conjunctivitis.
Bibliography[OMIM]:
164200
Hum.Molec.Genet.6,12
3-127,1997
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 268
257850
167000
601404
192090
Neurology 44,437441,1994
600116
173350
Prenat.Diagn.19,483487,1999
180020
progressive loss of visual acuity,
photophobia, defective color vision, cone
dystrophy. Eye isolated anomaly.
Am.J.Hum.Genet.62,1
autosomal recessive retinitis
452-1459,1998
pigmentosa. Eye isolated anomaly.
602772
at birth/soon thereafter onset; coarse
facies, hepatosplenomegaly, diarrhea,
anemia, epiphyseal punctate
calcifications, vacuolated lymphocytes.
Oligohydramnios, fetal ascites.
microphthalmos, microcornea, mental
retardation, cleft lip/palate, de novo 6;13
translocation.
269920
Clin.Dysmorph.2,274277,1993
601349
chromosome 7 localization
argininosuccinic aciduria
autosomal recessive
hydroxyacyl-CoA
autosomal recessive
dehydrogenase deficiency long mitochondrial
chain
Meigel disease
207900
mental retardation, convulsions,
episodic inconsciousness, skin lesions,
liver enlargement, dry/brittle hair.
recurrent hypoglycemia,
143450
cardiomyopathy, seizures, liver damage,
muscular atrophy.
supposed autosomal recessive
clinical/radiological disorders resembling 203760
Marfan syndrome and osteogenesis
imperfecta.
argininosuccinic aciduria
autosomal recessive
blepharophimosis-ptosisepicanthus inversus 2
autosomal dominant
mental retardation, convulsions,
episodic inconsciousness, skin lesions,
liver enlargement, dry/brittle hair.
blepharophimosis, other associated
anomalies, resembling BPES1.
cephalopolysyndactyly
syndrome
autosomal dominant
chromosome 7p localization
Genus Clinical Database
severe syndactyly, postaxial polydactyly,
halluces duplication,
scaphocephaly/plagiocephaly,
dysmorphic face with no evidence of
craniostenosis.
chromosome 7p localization
207900
Hum.Molec.Genet.5,20
49-2054,1996
601649
175700
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 426
34 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Bibliography[OMIM]:
Chotzen syndrome
autosomal dominant
craniosynostosis, plagiocephaly,
acrocephaly, facial asymmetry, low
anterior hair-line, brachy-syndactyly,
soft- tissue syndactyly between II and III
fingers, ocular ptosis.
Christodoulou syndrome
autosomal dominant
juvenile onset, weakness more
prominent in the upper limbs, thenar
muscles atrophy.
craniosynostosis type 1
autosomal dominant
genetic heterogeneity
multifactorial
supposed autosomal recessive
cystinosis early onset
autosomal recessive
deafness neurosensory
autosomal dominant-5
autosomal dominant
premature closure of sutures, leading to
abnormally shaped head, including
brachycephaly, oxycephaly,
plagiocephaly,turricephaly/acrocephaly,
cloverleaf skull.
polyuria, polydipsia, recurrent fever,
growth retardation, cystine crystal
deposition, choroidoretinal changes,
renal failure, rickets-like dysplasia,
confusion, short-term memory loss.
progressive hearing loss in the high
frequencies.
diabetes mellitus glucokinaserelated
autosomal dominant
maturity-onset diabetes mellitus.
diabetes mellitus noninsulindependent mild juvenile
autosomal dominant
125850
hand-foot-uterus syndrome
autosomal dominant
macular edema cystoid
autosomal dominant
myopathy metabolic
phosphoglycerate mutase
deficiency
autosomal recessive
juvenile onset, correction of fasting
hyperglycemia without insulin, usually
without ketosis, without obesity.
short thumb, hypoplastic thenar
eminence, clinodactyly, small feet, other
mild acroskeletal anomalies, bifid
uterus/septate vagina/male hypospadias.
cystoid macular edema due to retinal
capillary leakage, pericentral retinitis
pigmentosa. Eye isolated anomaly.
cramps, myoblobinuria, intolerance for
exercises, gout, tophi, hyperuricemia,
coronary sclerosis.
Pallister-Hall syndrome
supposed autosomal dominant
hypothalamic hamartoblastoma,
acidosis, lethargy, jaundice, ocular
defects, hypogonadism, dysmorphism,
multiple mouth frenula, imperforate
anus, polydactyly. Occasionally
increased nuchal translucency and
hydrops.
polydactyly postaxial
autosomal dominant
retinitis pigmentosa-9
autosomal dominant
isolated postaxial polydactyly, with extra
digit well formed or in the form of a skin
tag, i.e. pedunculated postminimi.
autosomal dominant retinitis
pigmentosa. Eye isolate anomaly.
146510
Prenat.Diagn.20,670672,2000
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 186
174200
101400
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 412
Hum.Molec.Genet.4,16
29-1632,1995
600794
123100
219800
Hum.Mol.Genet.4,215
9-2163,1995
600994
125851
140000
153880
261670
180104
chromosome 7q localization
adrenoleukodystrophy neonatal autosomal recessive
type
aortic stenosis supravalvar
Genus Clinical Database
genetic heterogeneity
genomic imprinting
seizures, delayed neurologic
development, respiratory infections,
cataract, choroidoretinal defects, optic
atrophy, sudden death.
congenital narrowing of the ascending
aorta, usually at the superior margin of
the sinuses of Valsalva, above the level
of the coronary arteries; frequently
associated pulmonary, other peripheral
arteries stenosis. Potentially paternal
imprinting.
chromosome 7q localization
202370
185500
35 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
cardiomyopathy hypertrophic
with Wolff-Parkinson-White
syndrome
autosomal dominant
hypertrophic cardiomyopathy with WolffParkinson-White syndrome.
chloridorrhea congenital
autosomal recessive
cutis laxa
cutis laxa recessive type I
autosomal dominant
autosomal recessive
genetic heterogeneity
autosomal recessive
often prematurity, abdominal distension,
chronic diarrhea with voluminous watery
stools, containing excess of chloride,
metabolic alkalosis.
skin laxity, premature wrinkling, cardiac
failure, hernias prolapse.
cutis laxa-Marfan phenotype
autosomal dominant
cystic fibrosis
autosomal recessive
deafness neurosensory
autosomal recessive-4
autosomal recessive
deferens vas aplasia
supposed autosomal recessive
diphosphoglycerate mutase
deficiency
autosomal recessive
dysphasia familial
autosomal dominant
genetic heterogeneity
supposed X-linked dominant
delay in the development of language,
without other defects
Genet.Couns.5,2233,1994
600117
602081
EEC syndrome
autosomal dominant
midline ectrodactyly, lacrimal duct
atresia, ocular changes, sparse
blond/gray hair, hypodontia, cleft
lip/palate, renal anomalies.
Ehlers-Danlos VII autosomal
dominant
autosomal dominant
short stature, joint laxity, skin
bruisability, micrognathia.
129900
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 294
130060
Ehlers-Danlos VII autosomal
recessive
autosomal recessive
genetic heterogeneity
granulomatous disease I
autosomal recessive
short stature, severe joint hypermobility,
multiple subluxations, floppy infant
aspect, bruisability, dysmorphic face.
at birth/young adulthood onset; severe
frequent pyogenic infections/granulomas
in any organs, osteomyelitis due to 47kD neutrophil cytosol factor defect.
seizures, hemorrhage, focal neurologic
deficiency, ocular changes, intracranial
calcifications.
holoprosencephaly, hydronephrosis,
other clinical findings, terminal 7q
deletion.
malignant hyperthermia susceptibility
related to a gene located on
chromosome 7q.
hypogonadotropic hypogonadism,
anosmia, cryptorchidism; occasionally
arhinencephaly, other clinical data.
hemangioma cavernous of brain autosomal dominant
holoprosencephaly 3
autosomal dominant
hyperthermia malignant
susceptibility 3
autosomal dominant
Kallmann syndrome 1
X-linked recessive
Genus Clinical Database
multiple diverticula, pulmonary
emphysema, aneurysms, herniae, other
clinical findings suggesting generalized,
severe elastolysis, bladder diverticula.
marfanoid phenotype, congenital cutis
laxa.
malabsorption, failure to thrive, recurrent
respiratory infections, nasal polyps,
infertility, cirrhosis, pancreatic
insufficiency, chronic pulmonary
disease, meconium ileus at birth, high
levels of the sweet electrolytes
sodium/chloride.
autosomal recessive hearing loss.
azoospemia/severe oligozoospermia,
due to vasa deferentia aplasia.
mild erythrocytosis, high hemoglobin
concentration.
chromosome 7q localization
Bibliography[OMIM]:
J.Clin.Invest.96,12161220,1995
600858
214700
123700
219100
150240
219700
Hum.Mol.Genet.4,163
7-1642,1995
600791
277180
222800
225410
233700
116860
142945
154276
601707
36 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
lactic acidosis LAD deficiency
autosomal recessive
long QT syndrome 2
autosomal dominant
first weeks of age onset; intermittent
hypoglycemia, neurologic dysfunction,
inspiratory stridor, increased muscle
tone, optic atrophy, metabolic acidosis,
lethargy.
abnormal QT prolungation inducing
attacks of syncope, other disturbances.
Lubani syndrome
autosomal recessive
Marfan syndrome I
autosomal dominant
mucopolysaccharidosis VII
autosomal recessive
osteogenesis imperfecta III
autosomal recessive
genetic heterogeneity
supposed autosomal dominant
osteogenesis imperfecta IVA
autosomal dominant
osteogenesis imperfecta IVB
autosomal dominant
osteogenesis imperfecta lethal
IIA
autosomal dominant
autosomal recessive
genetic heterogeneity
supposed germinal mosaicism
osteogenesis imperfecta lethal
IIB
autosomal dominant
autosomal recessive
genetic heterogeneity
supposed germinal mosaicism
osteogenesis imperfecta lethal
IIC
autosomal dominant
autosomal recessive
genetic heterogeneity
autosomal dominant
osteogenesis imperfecta tarda
blue sclerae
osteoporosis senile
Genus Clinical Database
supposed autosomal dominant
clinical signs of cystic fibrosis, mental
retardation, megaloblastic anemia,
helicobacter pylori gastritis, mild
dysmorphic face.
tall stature, dolichostenomelia,
arachnodactyly, scoliosis, chest
deformity, upward lens dislocation,
primary glaucoma, other ocular
changes, joint laxity, aortic/mitral
involvement, tricuspid valve
regurgitation, mitral annulus
calcification, long slendeer limbs, arm
span greater than height, little
subcutaneous fat, hypotonia; arterial
dissections.
coarse facies, short stature, corneal
clouding, hepatosplenomegaly, herniae,
X-ray changes. Occasionally fetal
ascites/oedema.
short stature, progressive deformity,
bluish sclerae at birth, but less blue with
age, cardiorespiratory failure, clinical
variability from perinatal death to little
morbidity.
bluish sclerae at birth, progressively less
blue with age; normal teeth; deafness,
other clinical data characteristic of
osteogenesis imperfecta.
clinical variability, bluish sclerae at birth,
less blue with age; dentinogenesis
imperfectas; fractures, usually in the
newborn period onset, other clinical data
characteristic of osteogenesis
imperfecta.
extreme bone fragility, intrauterine
fractures, broad crupled femora,
continuous rib beading, marked
reduction in collagen I synthesis.
extreme bone fragility, intrauterine
fractures, broad crumpled femora with
minimal or no rib fractures; other clinical
data characteristic of osteogenesis
imperfecta.
extreme bone fragility, intrauterine
fractures, thin femora, thin ribs.
multiple bone fractures, blue sclerae,
other ocular defects, opalescent teeth,
deafness; arterial rupture/dissection.
reduced bone mass mainly in the
femoral neck and lumbar spine.
chromosome 7q localization
Bibliography[OMIM]:
246900
152427
Prenat.Diagn.19,677680,1999
219721
154700
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 472
253220
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 470
259420
166220
166220
166210
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 490
J.Med.Genet.31(12),96
5-968,1994
Prenat.Diagn.17(6),55
9-570,1997
166210
166210
166200
166710
37 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
pancreatitis hereditary
autosomal dominant
Pendred syndrome
autosomal recessive
167800
recurrent epigastric pain, nausea,
vomiting, high levels of serum/urinary
amilase and lipase, steatorrhea, glucose
intolerance, pancreatic calcification,
other disturbances.
274600
perceptive congenital deafness, goiter.
pigmentary dispersion
syndrome-glaucoma
autosomal dominant
plasminogen activator inhibitor- autosomal dominant
1 high levels
platelet thromboxane A
synthase deficiency
autosomal recessive
pseudo-Zellweger syndrome
autosomal recessive
Refsum syndrome infantile type supposed autosomal recessive
juvenile onset; optic nerve degeneration,
open-angle glaucoma, myopia, pigment
granule deposition in iris and other
ocular structures.
thrombophilia due to increased
PLANH1, thrombosis recurrent, PLANH1
over expression.
soon after birth onset; hemorrhage,
bleeding diathesis, normal platelet
counts with defective aggregation, due
to platelet thromboxane synthase
deficiency.
prenatal growth failure, severe
hypotonia, feeding difficulties,
convulsions, hepatomegaly, cerebral
depression, cataract, single umbilical
artery, other oculo-visceral anomalies.
retinitis pigmentosa, other ocular
defects, deafness, peripheral
neuropathy, hepatomegaly, facies
resembling Down syndrome,
steatorrhea, bleeding diathesis, simian
creases.
autosomal dominant retinitis
pigmentosa.Eye isolated anomaly.
prenatal growth retardation,
microcephaly, dysmorphic facies,
ambiguous genitalia in male,
polysyndactyly, cataract, urinary and
other visceral anomaly. Specificity of low
maternal oestriol levels.
Bibliography[OMIM]:
600510
Arch.Ophthal.
115,384-388,1997
173360
274180
261510
266510
retinitis pigmentosa-10
autosomal dominant
Smith-Lemli-Opitz syndrome
autosomal recessive
split hand/foot deformity type 1
autosomal dominant
lobster-claw deformity, ectrodactyly,
monodactyly.
teratoma presacral-sacral
dysgenesis
autosomal dominant
tritanopia
autosomal dominant
genetic heterogeneity
supposed X-linked recessive
autosomal recessive
presacral mass, sacral dimple, anal
stenosis, constipation, neurogenic
bladder, other meningospinal anomalies.
190900
defect in color perception, partial or
total, occasionally other ocular defects.
Eye isolated anomaly.
trypsinogen deficiency
Williams syndrome
Genus Clinical Database
contiguous genes
supposed autosomal dominant
failure to thrive, edema, anemia,
hypoproteinemia, malabsorption,
duodenal peptidases activities
deficiency.
short stature, mild mental retardation,
loquacious behaviour, elfin facies,
supravalvular aortic stenosis, other
cardiac defects, stellate pattern of irides,
bladder diverticula.
chromosome 7q localization
180105
270400
Prenat.Diagn.19,105107,1999
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 112
183600
601285
Hum.Molec.Genet.5,57
1-579,1996
176450
276000
194050
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 118
38 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
autosomal recessive
prenatal growth failure, severe
hypotonia, feeding difficulties,
convulsions, hepatomegaly, cerebral
depression, cataract, choroidoretinal
changes, primary glaucoma, other oculovisceral anomalies, single umbilical
artery, stippled chondral calcificationss.
214100
Prenat.Diagn.18,11951197, 1998
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 212
Prenat.Diagn.20,520521,2000
CHARGE syndrome
supposed autosomal recessive
choanal atresia, heart anomalies, ocular
colobomas, choroidoretinal defects,
mental retardation, growth deficiency,
hypogenitalism, triangular shape of the
concha.
isoniazid inactivation
autosomal recessive
asymptomatic acetylator polymorphism
(slow/rapid) for isoniazid, hydralazine,
salicylazosulfapyridine, etc.
spastic paraplegia unaccompanied by
other features.
214800
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 668
243400
Zellweger syndrome 1
Bibliography[OMIM]:
chromosome 8 localization
paraplegia spastic hereditary-5A autosomal recessive
genetic heterogeneity
Rothmund-Thomson syndrome autosomal recessive
270800
skin
telangiectasia/atrophy/pigmentation,
short stature, juvenile cataract, other
ocular defects, teeth defects, sunlight
sensitivity.
268400
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 148
craniosynostosis, osseous and/or
cutaneous syndactyly, visceral defects,
strabismus.
alopecia of the scalp, beard,
eyebrows/eyelashes; dystrophic
fingernails. Suspected autoimmunity.
site-specific colonic cancer changes in
bowel habit, rectal bleeding, abdominal
pain, anemia, weight loss, onset before
40 years. May be the same of Lynch II.
Associated endometrial
carcinoma/atypical hyperplasia, uterine
leiomyosarcoma, renal/bladder
carrcinoma, gastric/biliary carcinoma.
secondary sexual development failure,
small testes, vaginal atrophy, eunuchoid
body proportions, sterility.
coagulation defect due to combined
deficiency of factors VII and VIII.
101600
chromosome 8p localization
acrocephalosyndactyly Pfeiffer
type
autosomal dominant
alopecia areata
genetic heterogeneity
supposed autosomal dominant
colorectal familial cancer
Lynch I
supposed autosomal dominant
undefinable
eunuchoidism familial
hypogonadotropic
supposed autosomal recessive
factor VII-VIII combined
deficiency
supposed autosomal dominant
glutathione reductase
deficiency
autosomal dominant
episodic hemolytic anemia, occasionally
cataract.
138300
hyperfibrinolysis familial
autosomal dominant
thrombosis recurrent.
173370
hyperlipoproteinemia IA
autosomal recessive
abdominal pain, hepatosplenomegaly,
ocular defects, intermittent eruptive
yellowish nodules.
infancy/early adulthood onset;
intermittent, recurrent keratolytic
erythema, peeling with redness,
strikingly occurring with cold weather.
238600
keratolytic winter erythema
Genus Clinical Database
chromosome 8p localization
104000
114500
190020
116806
227200
134430
148370
Am.J.Hum.Genet.61,3
70-378,1997
39 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
prostate cancer hereditary
autosomal dominant
early-onset prostate cancer.
retinitis pigmentosa-1
autosomal dominant
spherocytosis type II
autosomal dominant
genetic heterogeneity
Werner syndrome
autosomal recessive
decreased dim light vision, and
constricted visual fields, with typical
retinal changes. Eye isolated anomaly.
chronic hemolytic anemia, severe
spherocytosis, with partial response to
splenectomy, due to defect in ankyrin
synthesis(binding site for spectrin on the
membrane).
premature aging, short stature, alopecia,
diabetes, cataract, other ocular defects,
hypotonia, myocardial infarction.
Bibliography[OMIM]:
176807
601518
600020
180100
182900
277700
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 142
chromosome 8q localization
ACTH deficiency isolated
supposed autosomal recessive
adrenal 18-hydroxysteroid
dehydrogenase deficiency
autosomal recessive
adrenal hyperplasia IV
autosomal recessive
Baldwin disease
autosomal dominant
Berlin breakage syndrome
autosomal recessive
BOR-Duane-hydrocephalus
contiguous gene syndrome
contiguous genes
branchio-oto-renal syndrome
autosomal dominant
Burkitt lymphoma
no genetic
undefinable
Charcot-Marie-Tooth
neuropathy recessive type
autosomal recessive
peroneal muscular atrophy, pes cavus,
leg atrophy, scoliosis.
214400
cleidocranial dysplasia
autosomal dominant
supposed autosomal recessive
supposed genetic heterogeneity
persistently open skull sutures, bulging
calvarium, clavicles hypoplasia,
abnormal facility in apposing the
shoulders, oligodontia, short stature,
deafness, other anomalies.
Cohen syndrome
autosomal recessive
short or tall stature, obesity, mental
retardation, hypotonia, microcephaly,
prominent upper central incisors, other
ocular/skeletal/visceral anomalies.
119600
600211
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 408
216550
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 206
Genus Clinical Database
adrenocortical insufficiency due to
isolated ACTH deficiency, attacks of
hypoglycemia.
failure to thrive, growth retardation,
abnormality in serum electrolytes, salt
depletion, hyperkalemia with normal
genitalia.
virilization, female
pseudohermaphroditism, hypertension,
precocious puberty in males, signs of
mineralcorticoid excess.
severe degenerative osteoarthritis,
calcium gout, calcium deposition in
articular cartilage.
201400
203410
124080
202010
Am.J.Hum.Genet.56,6
92-697,1995
600668
Clin.Genet.33,2032,1988
600885
hydrocephalus associated with branchio- Hum.Molec.Genet.
3,1859-1866,1994
oto-renal and Duane syndrome, due to
deletion of 8q12.2-q21.2.
600257
600256
113650
preauricular pits or ear tags, branchial
cysts or fistulas internal/external
Smith's Recognizable
opening, renal hypoplasia/agenesis.
Patterns of Human
Malformation. 5th
Edition pag. 244
lymphoma, with chromosome 8
113970
consistently involved.
601406
microcephaly, thymus hypoplasia,
dysmorphism, immunodeficiency.
chromosome 8q localization
40 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
epidermolysis bullosa simplex
Ogna type
autosomal dominant
generalized epidermal fragility, serous
seasonal hands/feet blistering.
131950
exostoses multiple
cartilagineous type I
autosomal dominant
133700
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 436
Guibaud-Vainsel syndrome
autosomal recessive
juvenile absence epilepsy
supposed autosomal recessive
mild short stature, bone deformity due to
numerous asymmetric cartilage-capped
exostoses, with characteristic clubshaped appearance, usually in the
tubular bones actively growing areas,
such as juxtaepiphyseal areas;
malignant degeneration may occur.
increased bone density, mataphyses
transverse banding, fractures, distal
renal tubular acidosis, cerebral
calcification, optic atrophy, mental
retardation.
childhood, juvenile onse. Absence
epilepsy associated with tonic-clonic
seizures, sporadic myoclonus.
Kalaydjieva disease
autosomal recessive
first decade onset. Distal muscle
wasting and atrophy, talipes, deafness.
Klippel-Feil II syndrome
autosomal dominant
genetic heterogeneity
supposed autosomal recessive
autosomal dominant
supposed contiguous genes
localized C2-3 and C5-6 fusion,
hemivertebrae, occipitoatlantal fusion,
associated findings.
macular dystrophy atypical
vitelliform
autosomal dominant
Niemi syndrome
supposed autosomal recessive
paraplegia spastic hereditary-8
autosomal dominant
small yellow lesions in the macula and
peripapillary region. Eye isolated
anomaly.
epidermolysis bullosa simplex and
muscular dystrophy of the limb-girdle
type.
Weakness, progressive spastic
paraplegia.
Roe disease
mitochondrial
supposed autosomal recessive
salivary gland pleomorphic
adenoma
sporadic
Seemanova syndrome II
autosomal recessive
Langer-Giedion syndrome
thyroid hormonogenesis defect supposed autosomal recessive
V
trichorhinophalangeal I
autosomal dominant
genetic heterogeneity
germinal mosaicism
supposed autosomal recessive
vitamin E deficiency familial
supposed autosomal recessive
Genus Clinical Database
dysmorphism, bulbous/pear-shaped
nose, protruding ear, spars hair,
exostoses multiple cartilaginous, joint
laxity, mental retardation, cone
epiphyses, ocular changes.
congenital persistent hypotonia,
respiratory acidosis, hyperlysinemia,
other biochemical defects due to
disorder in unsaturated fatty acid
oxidation.
tumor of the parotid gland, usually
benign, with occasionally local
recurrences.
growth retardation with mild/without
mental retardation, microcephaly, birdlike facies, hip dislocation, renal
anomalies, infections from
cellular/humoral immunodeficiency, with
normal serum AFP levels; chromosome
disorders resembling Louis-Bar disease.
clinical stigmata of congenital
hypothyroidism, goiter, mental/growth
retardation.
short stature, sparse scalp hair, pearshaped nose, long philtrum, heavy
medial eyebrows, cone-shaped
epiphyses, other skeletal anomalies.
Bibliography[OMIM]:
259730
Prenat.Diagn.19,182,1
999
600131
Am.J.Hum.Genet.63,1
117-1129,1998
Nature Genet.14,214217,1996
601455
148900
150230
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 290
153840
226670
28799
Am.J.Hum.Genet.64,5
63-569,1999
222745
181030
251260
J.Med.Genet.34(3),196
-202,1997
274900
190350
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 292
malabsorption, steatorrhea, neurological 277460
dysfunctions, ataxia, spinocerebellar
600415
degeneration, areflexia, xanthomas,
defective tocopherol-binding protein.
chromosome 8q localization
41 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Zellweger syndrome 3
Inheritance:
Synthesis:
Bibliography[OMIM]:
autosomal recessive
prenatal growth failure, severe
hypotonia, feeding difficulties,
convulsions, hepatomegaly, cerebral
depression, cataract, choroidoretinal
changes, other oculo-visceral
anomalies, single umbilical artery,
stippled chondral calcification.
170993
Prenat.Diagn.20,520521,2000
autosomal dominant
acute attacks of abdominal pain,
neurologic defects, paralysis,
constipation, hallucinations, depression,
photosensitivity.
gene encoding a human leukocyte
alpha(1,3)-fucosyltransferase
synthesizing the sialyl Lewis x moieties.
late onset benign myopathy, usually
after 50 years, involving pelvic and
shoulder girdles with characteristic
cytoplasmic inclusions.
121300
light brown skin/hair, nystagmus,
reduced retinal pigmentation, foveal
hypoplasia, iridal dyschromia,
choroidoretinal defects.
depigmented skin with red/red-brown
hair, nystagmus, reduced retinal
pigmentation, iridal dyschromia, foveal
hypoplasia.
congenital flexion contractures, tight first
hand, equinovarus/calcaneovalgus
deformity, normal intelligence.
Phenotype overlapping FreemanSheldon syndrome.
203290
chromosome 9 localization
coproporphyria
fucosyltransferase 7
myopathy inclusion body 1
autosomal dominant
602030
147420
601073
chromosome 9p localization
albinism oculocutaneous IV
brown type
autosomal recessive
albinism oculocutaneous
rufous type
supposed autosomal recessive
arthrogryposis distal I
autosomal dominant
bone dysplasia-malignant
fibrous histiocytoma
autosomal dominant
Boon syndrome
autosomal dominant
dicarboxylic aminoaciduria
supposed autosomal recessive
galactosyltransferase deficiency autosomal recessive
hyperglycinemia nonketotic I
autosomal recessive
hyperglycinemia nonketotic II
autosomal recessive
Genus Clinical Database
278400
108120
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 172
areas of diaphyseal necrosis in the large 112250
tubular bones changing in malignant
fibrous histiocytoma/fibrosarcoma.
Hum.Molec.Genet
venous malformations in the tongue
3,1583-1587,1994
causing mandibular and maxillary
deformation; cutaneous/mucosal
600195
venous malformations in other regions.
Present at bith or puberty onset.
hypoglycemia after mild fasting, ketosis. 222730
jaundice, hepatomegaly, anorexia,
weight loss, vomiting, hypotonia,
cataract, lethargy.
early infancy onset; hypotonia, severe
mental retardation, myoclonia, seizures,
lethargy, hiccough; hyperglycinemia due
to defect in enzyme of the glycinecleavage system different from NKH2
and NKH3.
early infancy onset; mental retardation,
hypotonia, seizures, lethargy;
hyperglycinemia due to defect in
enzyme of the glycine-cleavage system
different from NKH1 and NKH3.
chromosome 9p localization
230400
238300
Prenat.Diagn.19,717720,1999
238310
42 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Bibliography[OMIM]:
hyperglycinemia nonketotic III
autosomal recessive
interferon deficiency
autosomal dominant
male-determining factor defect
autosomal dominant
autosomal dominant
238330
early infancy onset; mental retardation,
seizures, hypotonia, lethargy;
hyperglycinemia due to defect in
enzyme of the glycine-cleavage system
different from NKH2 and NKH1.
147660
decreased resistance to viral
infections/antibody sinthesis/natural
killer cell activity, due to interferon
decreased levels/unresponsiveness.
sex reversal male 46,XX, with phenotype 154230
resembling Klinefelter syndrome.
melanoma malignant
supposed autosomal dominant
undefinable
cutaneous melanoma, developing in
congenital giant nevocellular nevus.
Melkersson-Rosenthal
syndrome
autosomal dominant
metaphyseal dysplasia
Mckusick type
autosomal recessive
sudden swelling of lips/facial structures,
peripheral facial nerve paralysis,
fissured tongue, other clinical data.
short limbed dwarfism, metaphyseal
dysostosis, fine sparse light hair,
anemia, malabsorption, Hirschsprung
disease, chickenpox susceptibility.
testis-determining factor
mutation
supposed autosomal recessive
trichoepitheliomas
autosomal dominant
supposed genetic heterogeneity
Genomics 22,243244,1994
600134
155600
190020
116806
123829
155900
250250
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 384
273350
sex reversal, 46,XY, female external
genitalia and uterus, immature testicular
tissue containing Sertoli cells but not
germinal cells, due to postulated failure
of a recessive gene on chromosome
region 9p24.
translucent papules/nodules, increasing 132700
in number and size, involving nasolabial 601606
folds, nose, forehead, upper lip, external
ears; scalp, neck, upper trunk
characteristic horn cysts, resembling
basal cell epithelioma. May be
associated with cylindromatosiss.
chromosome 9q localization
acrofacial dysostosis Nager
type
supposed autosomal dominant
supposed genetic heterogeneity
adenylate kinase deficiency
supposed autosomal recessive
ataxia Friedreich type
autosomal recessive
supposed genomic imprinting
basal cell nevus syndrome
autosomal dominant
cardiomyopathy dilated-1B
autosomal dominant
Genus Clinical Database
154400
radial ray defects, lower lid coloboma,
malar hypoplasia, cleft palate, deafness. Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 258
nonspherocytic hemolytic anemia.
201600
spinocerebellar degeneration before
adolescence onset, incoordination,
dysarthria, sensory ataxia, nystagmus,
tendon reflexes diminished, pes cavus,
hammer toe, cardiac dysfunction.
Potentially paternal imprinting.
cutaneous carcinomas, jaw cysts,
skeletal anomalies, cerebral
calcification, calcified falx cerebri,
choroidoretinal defects, iridal changes,
ocular cysts, craniofacial anomalies.
dilated cardiomyopathy, heart failure,
ventricular arrhythmia, sudden death.
chromosome 9q localization
229300
109400
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 528
Am.J.Hum.Genet.57,8
46-852,1995
600884
43 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
carnitine acetyltransferase
deficiency
autosomal recessive
intermittent ataxia, ophthalmoplegia,
hypotonia, mental disturbance.
chorea-acanthocytosis
syndrome
autosomal recessive
supposed autosomal dominant
supposed genetic heterogeneity
citrullinuria
autosomal recessive
complement component C5
deficiency
autosomal dominant
progressive chorea, oral-facial
dyskinesia, frequent tongue-biting,
acanthocytes in peripheral blood, normal
betalipoproteinemia, seizures,
occasionally mental retardation.
215700
severe vomiting, poor sucking, mental
retardation, early onset ammonia
intoxication, lethargy, hepatomegaly,
hypotonia, apnea, seizures.
120900
seborrheic dermatitis, severe diarrhea,
recurrent systemic infections, wasting.
contracture multiple Finnish
type
supposed autosomal recessive
corneal dystrophy lattice type II autosomal dominant
sporadic
marked fetal hydrops, multiple
congenital contractures resembling
Pena Shokeir I, facial anomalies, brain
changes, joint dislocations, lung
hypoplasia, generalized thinning of
tubular bones.
cranial neuropathy, adult onset corneal
dystrophy , thickening of the skin.
deafness neurosensory
autosomal recessive-11
autosomal recessive
autosomal recessive deafness. May be
the same as DFNB7.
deafness neurosensory
autosomal recessive-7
autosomal recessive
congenital neurosensory deafness. May
be the same as DFNB11.
dopamine beta-hydroxylase
deficiency
sporadic
supposed autosomal recessive
dysautonomia I
autosomal recessive
Ehlers-Danlos I
autosomal dominant
after birth cyanosis, hypotonia , vomit,
hypotermia, hypoglycemic coma, facial
muscle weakness, ptosis, severe
orthostatic hypotension, syncope, ECG
anomalies, brachydactyly.
tears absence, fungiform papillae
absent, insensitivity to pain, vasomotor
instability, episodic fever, optic atrophy,
incoordination, abnormal sweeting, other
clinical data.
loose jointendness, fragile/bruisable
skin, 'cigarette-paper' scars, premature
born, vessels/bowel rupture, bowel
diverticula, hernia, retinal detachment,
bladder diverticula.
Ehlers-Danlos II
supposed autosomal dominant
epithelioma Ferguson-Smith
type
autosomal dominant
Fanconi pancytopenia type 1
autosomal recessive
Fanconi pancytopenia type 3
autosomal recessive
fructose-1,6- diphosphatase
deficiency
autosomal recessive
Genus Clinical Database
Bibliography[OMIM]:
Genomics 23,9499,1994
600184
200150
253310
105120
Genetic Diseases of
the Eye. Ed. Elias I.
Traboulsi 1998 p.234
Am.J.Hum.Genet.59,3
85-391,1996
Hum.Molec.Genet.4,23
91-2394,1995
600974
223360
223900
130000
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 482
130010
mild joint hypermobility, velvety skin,
mild propensity for bruising, parchmentlike scars over shins, joint laxity confined
to the hands/feet,minimal cutaneous
involvement.
132800
multiple keratoacanthomas resembling
squamous epithelioma, self-healing,
leaving deep pitted scars, with irregular
overhanging, crenellated borders.
227650
low birth weight, anemia,
WKURPERF\WRSHQLD FDIäDXODLW VSRWV
Smith's Recognizable
thumb defect/ supernumeray, renal
Patterns of Human
anomalies, chromosomal breakage.
Malformation. 5th
Edition pag. 320
Fanconi syndrome due to
227645
complementation group C.
neonatal onset, hyperventilation, apnea, 229700
convulsions, lactic acidosis,
hypoglycemia, ketosis, coma, occurring
in the fasting state or febrile infections.
chromosome 9q localization
44 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
fructosemia
autosomal recessive
Fukuyama syndrome
autosomal recessive
failure to thrive, vomiting, hepatomegaly,
cirrhosis, ascites, jaundice,
hypoglycemia, seizures.
generalized weakness, hypotonia,
cataract, choroidoretinal changes, optic
atrophy, mental retardation, seizures,
micro-lissencephaly.
hypomagnesemia X-linked
genetic heterogeneity
hypomelanosis of Ito
supposed autosomal dominant
leukemia acute pre-B-cell
transcription factor-3
acute leukemia.
nail-patella syndrome
supposed multifactorial
undefinable
autosomal dominant
nephronophthisis infantile
autosomal recessive
infantile onset; polycystic kidneys, renal
failure, nephronophthisis.
neuropathy sensory radicular
autosomal dominant
platelet CO deficiency
supposed autosomal dominant
porphyria acute hepatic
autosomal recessive
porphyria acute hepatic severe
infantile-onset
autosomal dominant
Rendu-Osler-Weber 1
autosomal dominant
retinitis pigmentosa-deafness
autosomal dominant
autosomal dominant
juvenile onset; perforating ulcers of the
feet, shooting pains, deafness.
bleeding tendency due to platelet
cyclooxygenase (CO) defect.
acute hepatic porphyrias, mimics acute
toxic porphyria from lead poisoning, but
without sideroachrestic anemia.
abdominal colic, constipation,
hepatosplenomegaly, jaundice, seizures,
hemolytic anemia, other clinical data.
skin/mucous membranes
telangiectasias, pulmonary
arteriovenous fistulas, choroidoretinal
changes, recurrent
nasal/gastrointestinal/bladder
hemorrhage with normal coagulation
factors, renal vascular malformations.
retinitis pigmentosa, sensorineural
deafness, subclinical myopathy.
stomatocytosis I
autosomal dominant
torsion dystonia 1
autosomal dominant
supposed genetic heterogeneity
autosomal dominant
genomic imprinting
tuberous sclerosis-1
Genus Clinical Database
early weeks of life onset; convulsions,
tetany, hypocalcemia, diarrhea, other
findings. It was thought in the past Xlinked recessive.
mental retardation, seizures,
asymmetrical whorl-like
hypopigmentation areas, ocular
changes, other findings.
hypoplastic nails, patella absent, elbows
movements reduction, iliac horns,
nephropathy, cataract, corneal clouding,
iridal changes, other defects.
Bibliography[OMIM]:
229600
253800
156225
Hum.Genet.99,535540,1997
Hum.Molec.Genet.6,14
91-1497,1997
602014
146150
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 504
176312
161200
Prenat.Diagn.19,287,1
999
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 438
Am.J.Hum.Genet.63,1
404-1410,1998
602088
162400
176805
125270
12527.0001
187300
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 524
Brit.J.Ophthl.81,207213,1997
601850
185000
hemolytic anemia with pale-staining
bands and increased osmotic fragility.
128100
juvenile onset; involuntary movements,
dystonic posturing, worsing under stress.
facial adenoma sebaceum
(angiofibroma), epilepsy, mental
retardation, vitiligo, ocular changes.
Potentially maternal imprinting.
Possibility of brain tumor, includind
astrocytoma. Occasionally detection
cranial abnormalities, rabdomyosarcoma
in prenatal eepoch.
chromosome 9q localization
191100
Prenat.Diagn.19,575579, 1999
J.Med.Genet.20,303312, 1983
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 506
45 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Walker-Warburg syndrome
autosomal recessive
hydrocephalus, agiria, retinal dysplasia,
microphthalmos, cataract, corneal
clouding, ocular cysts, primary
glaucoma, myopathy.
xeroderma pigmentosum I
autosomal recessive
photosensitivity, skin tumors,
poikiloderma, keratoacanthomas,
freckling, photophobia, cataract, other
ocular changes.
xeroderma pigmentosum III
autosomal recessive
xeroderma pigmentosum type C,
keratoacanthomas, particularly prone to
malignant melanoma; occasionally
cataract, corneal clouding.
278730
xeroderma pigmentosum of
complementation group D, linkage with
trichothiodystrophy; xeroderma
pigmentosum of complementation group
H, linkage with Cockayne syndrome.
Occasionally ocular changes. UVinduced skin tumors.
278810
ninth complementation group of
xeroderma pigmentosum.
xeroderma pigmentosum IV/VIII autosomal recessive
xeroderma pigmentosum IX
supposed autosomal recessive
Bibliography[OMIM]:
236670
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 192
278700
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 552
278720
chromosome 10 localization
diabetes mellitus insulindependent10
autosomal dominant
diabetes mellitus insulin dependent.
prostate adenocarcinoma
sporadic
prostate adenocarcinoma androgenundependent.
sialidosis I
supposed autosomal recessive
second decade onset; decreased visual
acuity, cherry red spots, cataract,
corneal opacity, myoclonus without
somatic/bony abnormalities.
Occasionally fetal ascites/oedema. No
mental retardation.
Hum.Mol.Genet.6,101
1-1016,1997
601942
Proc.Natl.Acad.Sci.
USA 93(6),25512556,1996
601188
256550
chromosome 10p localization
anemia pernicious juvenile
autosomal recessive
DiGeorge 1 syndrome
contiguous genes
supposed autosomal dominant
DiGeorge 2 syndrome
autosomal dominant
supposed contiguous genes
Genus Clinical Database
pernicious anemia due to selective
intestinal malabsorption of Vitamin B12
with proteinuria.
neonatal hypocalcemic tetany,
dysmorphic dysmorphic face, cardiac
defects, hypoparathyroidism, thymic
agenesis, cortical areas lymph nodes
depletion, infections susceptibility,
weackness, 22q11 del. Included in
CATCH 22 spectrum of malformations
(cardiac,, abnormal face, thymic
hypoplasia, cleft palate, hypocalcaemia,
22 chromosoma deletion).
neonatal hypocalcemic tetany,
dysmorphic face, cardiac defects,
hypoparathyroidism, thymic agenesis,
cortical area lymph nodes depletion,
infections susceptibility, weakness.
Chromosome 10 assignment.
chromosome 10p localization
261100
188400
601362
Prenat.Diagn.18,507510,1998
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 616
188400
601362
600594
46 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Refsum disease-hyperpipecolic autosomal recessive
acidemia
Refsum disease intemediate between
infantile and adult form.
Refsum syndrome adult type
autosomal recessive
velocardiofacial syndrome
autosomal dominant
supposed contiguous genes
retinal degeneration, other ocular
defects including cataract, peripheral
neuropathy, ataxia, muscular atrophy,
deafness.
submucous cleft, hypernasal speech,
cardiac anomalies, other ocular defects,
short stature, mental retardation,
microcephaly, prominent nose with
squared root. Chromosome 22q11
deletion. Included in CATCH 22
spectrum of malformations (cardiac,
abnormal faace, thymic hypoplasia, cleft
palate, hypocalcaemia, 22 chromosoma
deletion).
Bibliography[OMIM]:
Hum.Mol.Genet.4,196
3-1966,1995
600964
266500
192430
601362
Prenat.Diagn.18,507510,1998
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 266
chromosome 10q localization
acrocephalosyndactyly Pfeiffer
type
autosomal dominant
adrenal hyperplasia V
autosomal recessive
anterior segment mesenchymal autosomal dominant
dysgenesis
Apert syndrome
autosomal dominant
Apert-Crouzon syndrome
autosomal dominant
Bannayan-Zonana syndrome
autosomal dominant
Beare-Stevenson syndrome
sporadic
cardiomyopathy dilated-3
autosomal dominant
Cockayne II syndrome
supposed autosomal recessive
Genus Clinical Database
craniosynostosis, osseous and/or
cutaneous syndactyly, visceral defects,
strabismus.
mild hypertension, hypokalemic
alkalosis, amenorrhea, absent sexual
maturation, low plasma renin,
ambiguous genitalia, prominent breast in
males.
visual acuity reduced, corneal
opacification, cataract, iridal changes.
Eye isolated anomaly.
craniostenosis, acrocephaly,
complete/partial fusion of the digits
resembling a spoon, mild mental
retardation.
hand-foot malformation characteristic of
Apert syndrome, associated with facial
features of Crouzon disease, ocular
anomalies.
high birth weight, normal bone age,
megalencephaly, hamartomas,
macrosomia, multiple lipomas. Germline mutation of PTEN.
mental retardation, progeroid facies,
cleft palate, dental defects,
dysmorphism, skull shape changes,
acanthosis nigricans, haemangiomas,
pyloric stenosis.
dilated cardiomyopathy, conduction
defect, sudden death.
Cockayne syndrome due to a second
complementation group. Prenatal growth
failure, microcephaly, cryptorchidism,
mental retardation, other finding during
the first years, including cataract,
choroidoretinal changes, sunken eyes,
contractures, other defectss, reduced
colony-forming of amniocytes after UV
irradiation.
chromosome 10q localization
101600
202110
107250
101200
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 418
Prenat.Diagn.20,404406,2000
101200
153480
Natur.Genet.16,333334,1997
123790
J.Clin.Invest.98,13551360,1996
601493
216410
47 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Cockayne III syndrome
supposed autosomal recessive
colorectal familial cancer
Lynch I
supposed autosomal dominant
undefinable
Crouzon syndrome
autosomal dominant
Cockayne syndrome due to a third
complementation group inducing
ocular/neurovisceral changes.
site-specific colonic cancer changes in
bowel habit, rectal bleeding, abdominal
pain, anemia, weight loss, onset before
40 years. May be the same of Lynch II.
Associated endometrial
carcinoma/atypical hyperplasia, uterine
leiomyosarcoma, renal/bladder
carrcinoma, gastric/biliary carcinoma.
craniosynostosis, exophthalmos,
divergent strabismus, other ocular
defects, cleft palate, dysmorphic facies,
prognatism, mental retardation, atresic
auditory meatus.
deafness neurosensory
autosomal recessive-12
autosomal recessive
congenital autosomal recessive
sensorineural deafness.
Dubin-Johnson disease
autosomal recessive
epidermolysis bullosa Disentis
type
supposed autosomal recessive
mild icterus, due to chronic benign
conjugated hyperbilirubunemia.
adult, atrophic form of the disease with
reduced hemidesmosomes.
Gaucher disease variant type
autosomal recessive
Gaucher disease due to mutation in the
saposin gene.
glioma of brain
supposed autosomal dominant
infancy/childhood onset; seizures,
progressive weakness, speech/visual
disturbances, multifocal glioblastoma
involving frontal-temporal lobes, other
areas. GBM arises from astrocytic cells.
hamartoma multiple
autosomal dominant
158350
hexokinase deficiency
hypermethioninemia
genetic heterogeneity
supposed autosomal recessive
autosomal recessive
extensive facial trichilemmomas,
mucosal papillomatosis, fibromatosis,
verrucous lesions throughout the facial
orifices/ extensor surfaces, fibrocystic
breast disease, intestinal polyposis,
thyroid and other visceral tumors;
mental retardation, increased
intracranial pressure, cerebellar tonsils
erniation, megalencephaly. Germ-line
mutation of PTEN.
hemolytic anemia.
250850
Jackson-Weiss syndrome
supposed autosomal dominant
keratomalacia
autosomal dominant
leukodystrophy metachromatic
variant type
autosomal recessive
lipase pancreatic deficiency
autosomal recessive
medulloblastoma
supposed autosomal dominant
asymptomatic high levels of serum
methionine, with liver methionine
adenosyltransferase deficiency.
enlarged great toes without thumb
anomalies, craniosynostosis, midfacial
hypoplasia.
corneal malacia, due to low levels of
retinol-binding protein. Eye isolated
anomaly.
clinical features resembling juvenile form
of MLD, with half-normal arylsulfatase A
levels.
early infancy steatorrhea, normal growth
and developmental.
cerebellar dysfunction due to neoplasm
of the posterior fossa frequently
associated with isochromosome17q.
Genus Clinical Database
chromosome 10q localization
Bibliography[OMIM]:
216411
114500
190020
116806
123500
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 420
Hum.Mol.Genet.5,106
1-1064,1996
601386
237500
226650
249900
176801
137800
601969
601991
165220
165230
131550
235700
123150
180250
249900
176801
246600
155255
48 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
megacolon
autosomal dominant
multifactorial
supposed genetic heterogeneity
142623
MEN 2 syndrome
autosomal dominant
costipation leading to neonatal intestinal
obstruction or chronic
constipation/obstipation, abdominal
distention, deficiency/absence of
ganglion cells. Neuroblastoma tendency.
bilateral pheochromocytoma, multifocal
medullary thyroid carcinoma, other
clinical data.
MEN 3 syndrome
autosomal dominant
morning glory-renal failure
syndrome
sporadic
supposed autosomal dominant
myopathy metabolic
phosphoglycerate mutase
deficiency
autosomal recessive
myopathy mitochondrialexternal ophthalmoplegia 1
autosomal dominant
mitochondrial
myopathy, progressive external
ophthalmoplegia.
ornithinemia
autosomal recessive
orofacial cleft 1
autosomal dominant
genetic heterogeneity
genomic imprinting
multifactorial
myopia, reduced peripheral vision,
choroidoretinal changes, cataract,
unconstant proximal muscle weakness,
mild alopecia, sideroblastic anemia.
complete or incomplete clefts of the
upper lip, unilateral or bilateral, including
posterior alveolar processes, and
anteriorly alae nasi. Potentially paternal
imprinting.
157640
Prenat.Diagn.20,426431,2000
258870
partial epilepsy
autosomal dominant
polyposis coli juvenile
autosomal dominant
porphyria congenital
erithropoietic
autosomal recessive
schizencephaly
sporadic
split-hand/foot deformity type 3 autosomal dominant
thyroid carcinoma medullary
Bibliography[OMIM]:
171400
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 526
oro-facio-intestinal neuromas, hypotonia, 162300
marfan-like habitus, medullary thyroid
carcinoma.
120330
usually congenital, unilateral optic disk
coloboma, occasionally cataract, optic
atrophy, renal failure.
cramps, myoblobinuria, intolerance for
261670
exercises, gout, tophi, hyperuricemia,
coronary sclerosis.
119530
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 236
idiopathic epilepsy; juvenile age of onset. Nature Genet.10,5660,1995
600512
174900
rectal bleeding, polyp prolapse,
abdominal pain, diarrhea, due to isolated 600993
or multiple intestinal/frequently colonic
Science 280,1086polyps, risks for malignant degeneration.
1088,1998
263700
pink/red urine, yellow/brown teeth,
photosensitivity, skin lesions leading to
severe deformities, hemolysis,
splenomegaly.
J.Neuropathol.Exp.Neu
full thickness cleft within the cerebral
rol.5,169-206,1946
hemisphere.
Am.J.Hum.Genet.55,2
lobster-claw deformity, ectrodactyly.
1-26,1994
600095
familial medullary thyroid carcinoma.
155240
thyroid carcinoma papillary
sporadic
supposed autosomal dominant
supposed autosomal dominant
papillary carcinoma of the thyroid.
188550
urofacial syndrome
autosomal recessive
Usher ID syndrome
autosomal recessive
Wolman disease
autosomal recessive
236730
hydronephrosis, pyelonephritis,
neuropathic bladder, without neurologic
problems, peculiar face characterized by
inverted facial expression when laughing.
601067
congenital deafness, vestibular
dysfunction, retinitis pigmentosa.
J.Med.Genet.33,7779, 1996
278000
vomit, steatorrhea, calcified adrenals,
hepatosplenomegaly, neuromuscular
disorders, anemia, ocular changes,
triglyceride storage. Occasionally fetal
ascites/oedema.
Genus Clinical Database
chromosome 10q localization
49 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
anemia pernicious congenital
autosomal recessive
olivopontocerebellar V
autosomal dominant
spinocerebellar ataxia 5
autosomal dominant
megaloblastic anemia, onset age 1 with
normal gastric acidity and mucosal
morphology, mental retardation.
cerebellar signs, rigidity, mental
deterioration, dementia.
gait distaubance, ataxia, dysarthria, age
at onset from 10 to over 60 years, with
clear anticipation.
Bibliography[OMIM]:
chromosome 11 localization
261000
164700
Nature Genet. 8,280284,1994
600224
chromosome 11p localization
acatalasemia
autosomal recessive
adrenocortical carcinoma
autosomal recessive
aniridia 2
autosomal dominant
atrophia areata
autosomal dominant
Beckwith-Wiedemann syndrome autosomal dominant
genomic imprinting
supposed contiguous genes
bladder cancer
supposed autosomal dominant
cardioauditory syndrome
autosomal recessive
cardiomyopathy hypertrophic-4 autosomal dominant
relatively benign disease or in some
cases severe gangrenous gingival
lesions with teeth loss due to loss of
catalase activity.
virilism with adrenocortical dysfunction.
115500
total or partial absence of iris.
Occasionally associated cataract and
mental retardation. Eye isolated
anomaly. Wilms tumor tendency.
peripapillary choroid atrophy with wide
tongue-shaped peripheral extension.
Eye isolated anomaly.
macroglossia, omphalocele,
visceromegaly, gigantism, hypospadias,
mental retardation, occasionally mild
microcephaly, other defects,
hypoglycemia, hyperinsulinemia.
Adrenal carcinoma, Wilms tumor, neurohepatoblastoma , pancreatoblastoma
tendency. Potentiially maternal
imprinting.
familial malignant bladder tumor.
106210
202300
108985
130650
600856
Prenat.Diagn.21,9698,2001
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 164
109800
190020
190070
220400
prolongation of the Q-T interval,
ventricular arrhythmia, loss of
consciousness, deafness, sudden death.
Nature Genet.4,311heart failure induced by familial
313,1993
hypertrophic cardiomyopathy.
600958
115197
ceroid lipofuscinosis late
infantile
autosomal recessive
intellectual decline, ataxia, seizures,
retinal degeneration, optic atrophy.
Cytosomes with curvilinear profile in the
uncultured amniotic fluid.
complement component C1q A
chain deficiency
autosomal dominant
clinical findings of systemic lupus
erythematous and/or glomerulonephritis.
complement component C1q B
chain deficiency
autosomal dominant
120570
clinical findings of systemic lupus
erythematous and/or glomerulonephritis.
complement component C1s
deficiency
autosomal dominant
120580
clinical findings of systemic lupus
erythematous and/or glomerulonephritis.
DEFECT 11
chromosomic
contiguous genes
acrocephalosyndactyly, mental
retardation, multiple exostoses, parietal
foramina, cutaneous syndactyly,
interstitial deletion 11p11.12p12.
Genus Clinical Database
chromosome 11p localization
204500
Prenat.Diagn.21,99101,2001
Prenat.Diagn.20,337339,2000
120550
601224
Am.J.Hum.Genet.
58,734-742,1996
50 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
diabetes mellitus insulindependent 2
exostoses multiple
cartilagineous type II
Inheritance:
Synthesis:
Bibliography[OMIM]:
autosomal dominant
multifactorial
autosomal dominant
insulin-dependent diabetes mellitus.
125852
multiple exostoses, osteosarcome
susceptibility
133701
B.D.Encyclopedia
2112 p.177
Prenat.Diagn.21,143145,2001
Am.J.Dis.Child.147,10
72-1075,1993
fetal maternal lupus syndrome
autosomal dominant
bradycardia detected in utero, heart
block, skin discoid lupus, rash in the
newborn.
fetal maternal Sjogren-Mikulicz
syndrome
autosomal dominant
neonatal hemochromatosis induced by
maternal Sjogren-Miculicz syndrome.
Freeman-Sheldon syndrome
variant type
autosomal dominant
Am.J.Hum.Genet.60,4
26-432,1997
601680
Glaser syndrome
autosomal dominant
gonadotropin isolated
deficiency FSH
supposed autosomal recessive
dysmorphic face, short stature,
arthrogryposis, microstomia.
Intemediate disorder compared to
Freeman-Sheldon syndrome.
congenital cataract, late onset corneal
dystrophy, nervous system defects.
primary amenorrhea, high LH,
undetectable FSH.
anemia, jaundice, splenomegaly, acute
hemolytic episodes by exposure to
oxidant drugs/infections, Heinz-bodies in
the erithrocytes due to unstable
hemoglobin fraction.
paroxysmal nocturnal hemoglobinuria
associated with vomit, splenomegaly,
sickness, due to unusual erythrocytes
susceptibility to lytic action of
complement; hemolysis, pancytopenia,
positive acidifying hemolysis test, low
leukocyte alkaline phosphatase leevels,
decreased RBC acetylcholinesterase.
Langerhans islets neoformation,
convulsions, lethargy, severe persistent
hyperinsulinemic hypoglycemia.
neuroblastoma tendency.
hyperinsulinemia,
normoglycemia/hyperglycemia, normal
response to exogenous insulin,
presence of the one-chain insulin
precursor as the major fraction of
circulating insulin.
autosomal recessive type of idiopathic
hypoparathyroidism.
140700
hemoglobin variants Heinz-body autosomal dominant
hemoglobinuria paroxysmal
nocturnal
genetic heterogeneity
hyperinsulism familial
autosomal recessive
hyperproinsulinemia
autosomal dominant
hypoparathyroidism autosomal
recessive
autosomal recessive
genetic heterogeneity
X-linked recessive
autosomal recessive
genetic heterogeneity
X-linked recessive
autosomal dominant
hypoparathyroidism X-linked
lactate dehydrogenase A
deficiency
Nature Genet.7,463471,1994
229070
107271
256450
600509
176730
241400
307700
convulsions, neuromuscular irritability,
tetany, spasms, hyperreflexia, oro-ocular
defects including cataract.
myoglobinuria due to LDHA defect.
150000
childhood onset; acute lymphocytic
leukemia.
151390
liver cancer-1
supposed multifactorial
undefinable
autosomal dominant
familial primary cancer of the liver.
114550
long QT syndrome 1
autosomal dominant
lupus erythematous systemic
supposed autosomal dominant
supposed multifactorial
192500
QT interval abnormal prolungation,
attacks of syncope, ventricular fibrillation. Prenat.Diagn.19,677680,1999
152700
fever, weight loss, cutaneous lesions,
erythematous butterfly rash of the face, 601690
maculopapular rash after sunlight
exposure, alopecia, symmetric arthritis,
myalgia, renal disease, peripheral
neuropathy, immunological disorders;
occasionally fetal myocardittis/heart
block.
leukemia acute T-cell
Genus Clinical Database
chromosome 11p localization
51 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
nephropathy-XY gonadal
dysgenesis Frasier type
sporadic
Niemann-Pick A
autosomal recessive
Niemann-Pick B
autosomal recessive
O'Donnell-Pappas syndrome
autosomal dominant
parietal foramina permagna
autosomal dominant
Perlman syndrome
autosomal recessive
prothrombin deficiency
autosomal dominant
rhabdomyosarcoma-1
autosomal recessive
male pseudohermaphroditism, XY
gonadal dysgenesis, renal failure,
occurrence of gonadoblastoma but not
Wilms' tumor.
hepatosplenomegaly, acute neurologic
deterioration, cherry red macular
changes, nodular skin. Occasionally
fetal ascites/oedema.
hepatosplenomegaly, cherry red
macular changes, hepatic failure,
nodular skin.
reduced visual acuity due to mild foveal
hypoplasia, presenile cataract,
peripheral corneal pannus. Eye isolated
anomalies.
isolated, enlarged, symmetrical, oval
defects in the parietal bone on sagittal
suture, and separated from each other
by a narrow, bone bridge. Size and
location (parietal and frontal) may vary
within families, without clinical
significance. Common in lesss than 2%
of healthy newborns. Occasionally in
some syndromic associations.
macrosomia at birth, enophthalmos,
dysmorphic face, prominent bifid
xiphisternum, cryptorchidism,
hypoglicemia, distended abdomen, renal
hamartomas, with/without
nephroblastomatosis.
bleeding manifestations, ecchymoses,
hematomas, epistaxis, other
hemorrhagic disorders.
childhood onset; embrional tumor
involving connective-muscular tissue,
with a locus suggested on chromosome
11.
severe combined immunodeficiency
without B-lymphocytes.
severe combined
immunodeficiency B-cell
negative
Usher IC syndrome
autosomal recessive
WAGR syndrome
autosomal dominant
supposed contiguous genes
Wilms tumor I
autosomal dominant
supposed contiguous genes
Wilms tumor II
autosomal dominant
supposed contiguous genes
xeroderma pigmentosumnormal DNA repair
supposed autosomal recessive
severe autosomal recessive retinitis
pigmentosa-deafness syndrome.
Wilms tumor, mental deficiency,
hydrocephaly, ambiguous genitalia,
dysmorphism, aniridia, congenital
cataract/other ocular defects.
fixed abdominal mass in an upper
quadrant, hematuria, hypertension,
fever, abdominal pain. Occasionally
congenital form.
nephroblastoma producing a nonmobile
mass in an upper abdominal quadrant,
abdominal pain hematuria, hypertension,
other clinical findings. Occasionally
congenital form.
xeroderma pigmentosum with normal
DNA repair rates and defective
postreplication repair.
Bibliography[OMIM]:
136680
257200
257200
136520
168500
267000
Prenat.Diagn.18,11631168, 1998
176930
268210
J.Med.Genet.20,303312, 1983
Science 274,9799,1996
601457
276904
19407.0001
194072
194070
194071
278750
chromosome 11q localization
Genus Clinical Database
chromosome 11q localization
52 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
acromegaly
supposed autosomal dominant
102200
Albers-Schonberg recessive
type
autosomal recessive
albinism ocular-lentiginesdeafness syndrome
autosomal dominant
albinism oculocutaneous I
autosomal recessive
alphamethyl-acetoacetic
aciduria
amyloid neuropathy Van Allen
autosomal recessive
mitochondrial
autosomal dominant
coarsening of facial features, feet/hands
soft-tissue swelling, large hands/feet,
bony proliferation, diabetes,
hypermetabolism, other hormones
disturbances, associated neoplasia.
blindness, choroidoretinal defects, optic
atrophy, deafness, macrocephaly,
hepatosplenomegaly, severe anemia,
osteopetrosis, cataract.
ocular albinism, iridal dyschromia,
reduced visual acuity, photophobia,
strabismus,choroidoretinal defects,
deafness, lentigines.
absence of skin/hair/eyes pigmentation,
nystagmus, photophobia, choroidoretinal
defects, iridal dyschromia, tyrosinase
negative test.
severe episodic ketoacidosis, acidotic
coma subsequent neurologic damage.
105100
anal canal carcinoma
supposed autosomal dominant
onset age 35, neuropathy followed by
nephropathy, peptic ulcer, hearing loss,
cataract.
squamous anal canal carcinoma.
angioedema hereditary
autosomal dominant
apolipoprotein AI/CIII deficiency autosomal dominant
ataxia with lactic acidosis II
syndrome
autosomal recessive
ataxia-telangiectasia
autosomal recessive
ataxia-telangiectasia
complementation group D
autosomal recessive
atopic IgE responsiveness
autosomal dominant
genomic imprinting
multifactorial
Bardet-Biedl syndrome type 1
autosomal recessive
Bardet-Biedl syndrome type 2
autosomal recessive
Bartter syndrome type 2
Genus Clinical Database
abdominal pain, larynx edema, other
visceral involvement.
prematury coronary disease, mild
corneal opacifications before age 40 in
homozygotes, and before age 60 in
heterozygotes; renal failure
weight loss, weakness, hypotonia,
vomiting, seizures, ataxia, nystagmus,
lactic acidosis, respiratory distress.
cerebellar ataxia, telangiectases,
sinopulmonary infections, oculomotor
apraxia, immunodeficiency, glucose
intolerance, chromosomal anomalies.
cerebellar ataxia, telangiectasia,
sinopulmonary infections, oculomotor
apraxia, immunodeficiency,
chromosomal anomalies.
increased risk of allergic manifestations,
asthma, hay fever, eczema, due to
exuberant IgE responses to minute
amounts of antigen. Potentially maternal
imprinting.
postaxial polydactyly, hypogonadism,
obesity, mental retardation, pigmental
retinopathy resembling a cone-rod
retinal degeneration.
postaxial polydactyly, hypogonadism,
obesity, mental retardation, pigmentary
retinopathy. Chromosome 16q
localization.
failure to thrive, renal failure, vomit,
hypokalemic alkalosis, salt wasting.
chromosome 11q localization
Bibliography[OMIM]:
259700
103470
203100
203750
105580
106100
107680
266150
208900
Prenat.Diagn.19,542545,1999
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 196
208905
147050
600807
601690
209901
209900
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 590
600359
Hum.Molec.Genet.6,17
-26,1997
Prenat.Diagn.19,671673,1999
53 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Best disease
Inheritance:
Synthesis:
autosomal dominant
short time of birth or later onset.Round
central yellow deposit at the level of the
retinal pigment epithelium. Macular
degeneration looking like "an egg with
sunny-side up" or a "scrambled egg".
Eye isolated anomaly.
markedly restricted/absent eye
movements. Eye isolated anomaly.
blepharoptosis-eye movements autosomal dominant
absence
cerebelloparenchymal III
disease
autosomal recessive
Charcot-Marie-Tooth
neuropathy 4B
autosomal recessive
deafness neurosensory
autosomal dominant-11
autosomal dominant
first decade onset of progressive
deafness.
deafness neurosensory
autosomal dominant-12
autosomal dominant
midfrequency hearing loss.
deafness neurosensory
autosomal dominant-8
autosomal dominant
congenital severe deafness.
deafness neurosensory
autosomal recessive-2
autosomal recessive
variable age onset of neurosensory
deafness.
diabete mellitus insulindependent 4
autosomal dominant
multifactorial
diabetes mellitus insulin-dependent.
diabetes mellitus insulindependent 1
genetic heterogeneity
multifactorial
supposed autosomal recessive
epidermolysis bullosa
Hallopeau-Siemens type
autosomal recessive
fish-eye disease
supposed autosomal dominant
fucosyltransferase 4
autosomal dominant
glycogenosis V, autosomal
recessive
high bone mass
autosomal recessive
genetic heterogeneity
supposed autosomal dominant
autosomal dominant
juvenile onset, polyuria, polydipsia,
antibodies to pancreatic islet beta cells,
ketoacidosis, vascular changes,
increased in autoimmuno diseases.
severe destructive skin lesions, at birth
or in infancy, involving mucosal
surfaces, fingers fusion, severe
contractures, ocular changes.
massive corneal opacity,
dyslipoproteinemia.
locus associated to myeloid-associated
surface antigen.
childhood/juvenile onset; pain/stiffness,
muscle swelling with exercise,
myoglobinuria.
hyperlipidemia combined
supposed autosomal dominant
hypertriglyceridemia
autosomal dominant
leukemia chronic lymphatic
supposed autosomal dominant
undefinable
leukemia mixed-lineage
autosomal dominant
Genus Clinical Database
Bibliography[OMIM]:
153700
135700
congenital mental retardation, cerebellar 213200
ataxia, loss of granule cells and
heterotopic Purkinje cells.
Hum.Mol.Genet.5,105
peroneal muscular atrophy, pes cavus,
1-1054,1996
leg atrophy, scoliosis.
601382
Hum.Mol.Genet.5,849852,1996
601317
Am.J.Hum.Genet.60,1
168-1173,1997
601842
II Workshop
Eur.Work.Genet Hear
Impair Milan 1996
601543
Nature Genet.16,188190,1997
600060
276903
Nature 371,161164,1994
600319
222100
226600
136120
104230
232600
high spinal bone-mineral density.
Am.J.Hum.Genet.60,1
326-1332,1997
601884
dendency to obesity, hyperinsulinemia,
glucose intolerance, increased incidence
of coronaropathies, no tendon
xanthomas, high levels of cholesterol
and/or triglycerides.
phenotype resembling
hyperlipoproteinemia IV, premature
coronaropathies, peripheral vascular
disease without xanthomas.
chronic lymphocytic leukemia, familial
aggregation, occasionally autoimmune
disease recurrence.
mixed-lineage leukemia with
translocation involving chromosome 11.
144250
chromosome 11q localization
145750
151400
159555
54 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
manic-depressive psychosis 1
autosomal dominant
multifactorial
manic-depressive psychosis 2
X-linked dominant
elated/excited/irritable mood in manic
symptomatology; impaired thought
processes/disturbed thought, content
and perceptual processes/allucinations
in schizophrenic disorders.
elated/excited/irritable mood in manic
symptomatology; impaired thought
processes/disturbed thought, content
and perceptual processes/hallucinations
in schizophrenic disorders.
occipital encephalocele, microcephaly,
Potter-like facies, oral-oculo-neural
defects, kidneys/liver cysts, polydactyly,
ambiguous genitalia, single umbilical
artery, spleen acessory, other
anomalies; occasionally Horner
syndrome. MKS2 locus on 11q13.
adulthood onset; dysfunctions due to
usually nonmalignant adenomatosis of
more than one endocrine gland, i.e.
thyroid/parathyroid/pituitary/adrenal/panc
reas; occasionally, pancreatic
malignancy.
short trunk, blindness, retinal
detachment, pseudoglioma, cataract,
other ocular changes, osteoporosis,
deformities, fractures, joint laxity.
milk teeth/permanent teeth premature
delay, palmoplantaris keratosis
resembling mal de Meleda, calcification
of the dura madre.
nonchromaffin paraganglioma; middle
ear mass, inducing hearing loss,
tinnitus, bleeding, vertigo, cranial nerve
palsies, other disturbances. Maternal
imprinting (inacivation of the PGL gene).
POssibility of genetic anticipation.
severe muscular hypotonia, seizures,
mental retardation, other neurological
disorders.
attacks of abdominal pain, constipation,
tachycardia, vascular spasms, ocular
changes, peripheral neuropathy,
psychiatric syndromes, increased
porphobilinogen excretion.
acute neurovisceral porphyria, without
cutaneous photosensitivity, with dual
enzyme deficiency in peripheral blood
cells.
decreased fetal movements, breech
delivery, almond-shaped eyes, full
cheeks, severe hypotonia,
hypogenitalism, polyphagia, obesity,
short stature, hypopigmentation, iridal
changes. Potentially paternal imprinting.
Meckel syndrome type 2
MEN 1 syndrome
autosomal dominant
osteoporosis-pseudoglioma
syndrome
autosomal recessive
Papillon-Lefevre syndrome
autosomal recessive
paragangliomas
autosomal dominant
genomic imprinting
phenylketonuria III
autosomal recessive
porphyria acute intermittent
autosomal dominant
porphyria Chester type
autosomal dominant
Prader-Willi syndrome
autosomal dominant
genomic imprinting
supposed contiguous genes
retinitis pigmentosa digenic
autosomal dominant
autosoma dominant retinitis pigmentosa
due to RDS and ROM1 gene.
schizophrenia-2
autosomal dominant
genetic heterogeneity
multifactorial
undefinable
autosomal dominant
young/adult age onset; psychotic
symptoms, hallucinations, personality
disorders.
T-cell antigen receptor defect
Genus Clinical Database
clinical findings of immunodeficiency
severe combined.
chromosome 11q localization
Bibliography[OMIM]:
125480
309200
Am.J.Hum.Genet.63,1
095-1101,1998
603194
131100
259770
245000
168000
601650
261640
176000
176010
176270
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 202
Prenat.Diagn. 20,300306,2000
Scienze 264,16041608,1994
180721
181500
186740
55 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Bibliography[OMIM]:
tuberous sclerosis-1
autosomal dominant
genomic imprinting
facial adenoma sebaceum
(angiofibroma), epilepsy, mental
retardation, vitiligo, ocular changes.
Potentially maternal imprinting.
Possibility of brain tumor, includind
astrocytoma. Occasionally detection
cranial abnormalities, rabdomyosarcoma
in prenatal eepoch.
Usher IB syndrome
autosomal recessive
deafness, retinitis pigmentosa.
vitreoretinopathy exudative 1
autosomal dominant
genetic heterogeneity
vitreoretinopathy neovascular
inflammatory
autosomal dominant
133780
posterior vitreous detachment, in all
quadrants. could be the same gene as
Norrie disease in X-linked form.
Occasionally retinal changes resembling
pseudoglioma. Eye isolated anomaly.
193235
neovascular inflammatory
vitreoretinopathy, retinal detachment,
vitreal hemorrhage. Eye isolated
anomalies.
191100
Prenat.Diagn.19,575579, 1999
J.Med.Genet.20,303312, 1983
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 506
Nature 374,60-61,1995
276903
chromosome 12 localization
Alzheimer type 5
autosomal dominant
genomic imprinting
late onset dementia.
Bloom syndrome
autosomal recessive
colitis ulcerative
multifactorial
supposed autosomal dominant
undefinable
no genetic
supposed autosomal recessive
undefinable
low birth weight, dwarfism, cutaneous
rash due to sensitivity to sunlight,
hypo/hyperpigmentation spots, severe
immunodeficiency, thin face with large
nose, chomosome defects, propensity
for leukemia.
nonspecific chronic inflammatory
disease involving the bowel.
Crohn disease
hypervalinemia
autosomal recessive
J.A.M.A.278,12371241,1997
602096
210900
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 104
191390
601458
terminal ileum nonspecific
segmental/plurisegmental inflammatory
disease, with acute and chronic course,
gastrointestinal tumor tendency.
mental growth retardation, hyperkinesis,
vomiting, weakness.
266600
601458
200990
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 226
240600
277100
chromosome 12p localization
acrocallosal syndrome
supposed autosomal dominant
corpus callosum hypoplasia,
megalencephaly, hypertelorism,
strabismus, prominent forehead,
depressed nasal bridge, duplicated great
toes and postaxial polydactyly.
aglycogenosis
autosomal recessive
blepharoptosis-eye movements autosomal dominant
absence
neonatal hypoglycemia, fasting
hypoglycemia, hyperglycemia after
feeding, microcephaly, mental
retardation, seizures, other neurological
defects.
markedly restricted/absent eye
movements. Eye isolated anomaly.
breast cancer familial
familial bilateral breast cancer.
Genus Clinical Database
multifactorial
undefinable
chromosome 12p localization
135700
114480
190020
190070
188825
56 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Bibliography[OMIM]:
complement component C1qG
deficiency
autosomal dominant
120575
clinical findings of systemic lupus
erythematous and/or glomerulonephritis.
complement component C1r
deficiency
autosomal recessive
complement component C1s
deficiency
autosomal dominant
216950
infections, arthralgias, lupus-like
features, other signs of
immunodeficiency states.
clinical findings of systemic lupus
120580
erythematous and/or glomerulonephritis.
hypophosphatemic rickets
autosomal dominant
autosomal dominant
macroglobulin alpha-2
deficiency
autosomal dominant
myelodysplasia--myeloid
leukemia factor 2
short stature, osteomalacia, rachitic
deformity, laboratory data typical of
rickets.
chronic lung disease due to severe
emphysema.
193100
no genetic
sporadic
myelodysplastic syndrome and/or acute
myeloid leukemia with MLF2 gene
mutation.
myoclonus-epilepsychoreoathetosis
autosomal dominant
myoclonus, epilepsy, dementia, ataxia,
choreoathetosis with dentatorubral and
pallidoluysian system degeneration.
myokymia-ataxia syndrome
supposed autosomal dominant
olivopontocerebellar II
autosomal recessive
triosephosphate isomerase
deficiency
autosomal recessive
von Willebrand disease
autosomal dominant
autosomal dominant
periodic ataxia with associated jerking
movements, provoked by various
stimulations.
juvenile/adult age onset; progressive
cerebellar sensory ataxia, dysarthria.
chronic, nonspherocytic hemolytic
anemia, weakness, hypotonia,dystonia,
dysarthria, dyskinesia, other
neurological changes.
prolonged bleeding time, decreased
Factor VIII activity.
Genomics 35,392396,1996
601401
125370
Clin.Genet.50(4),199201,1996
160120
103950
258300
190450
193400
chromosome 12q localization
achondrogenesis II
sporadic
supposed autosomal recessive
lethal neonatal chondrodysplasia, short
trunk, very short limbs, enlarged
normally ossified skull, absent
ossification of the sacrum, pubis, lumbar
vertebrae.
acyl-CoA dehydrogenase
deficiency short chain
organic aciduria, muscle weakness,
myopathy, fatty liver.
Allgrove syndrome
autosomal recessive
mitochondrial
autosomal recessive
Apert-Crouzon syndrome
autosomal dominant
brachydactyly C
autosomal dominant
cardio-facio-cutaneous
syndrome
sporadic
supposed autosomal dominant
cardiomyopathy hypertrophic
mid-cavity 2
autosomal dominant
Genus Clinical Database
defective tear formation, achalasia,
hyperpigmentation, adrenocortical
deficiency and/or neurological
abnormalities, periventricular brain
heterotopias, optic atrophy,
choroidoretinal changes.
hand-foot malformation characteristic of
Apert syndrome, associated with facial
features of Crouzon disease, ocular
anomalies.
2nd-3rd brachymesophalangy, long 4th
finger, clynodactyly, hyperphalangy,
symphalangism.
pulmonic stenosis, other cardiac
defects, dysmorphic facies, sparse hair,
hyperkeratosis/ichthyosis-like, mental
retardation.
variant of cardiac hypertrophy
characterized by thickening of the midleft ventricular chamber; associated
abnormal skeletal muscle.
chromosome 12q localization
200610
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 328
201470
231550
J:Chil.Neurol.
14(5),331-334,1999
101200
113100
115150
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 126
Nature Genet.13,6369,1996
57 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
cornea plana recessive type
autosomal recessive
genetic heterogeneity
corneal dystrophy epithelial
juvenile type
autosomal dominant
autosomal recessive
genetic heterogeneity
congenital corneal deformity. In the
recessive form, K readings (corneal
refraction) may be as low as 23
diopters. Possibility of glaucoma later in
life. Eye isolated anomaly.
fine, punctate opacities in the
epithelium/Bowman membrane. Eye
isolated anomaly.
diabetes insipidus nephrogenic genetic heterogeneity
autosomal recessive
supposed autosomal recessive
diabetes mellitus noninsulinautosomal dominant
dependent 2
polyuria, polydipsia, growth retardation,
without renal tubular disease.
diabetes noninsulin-dependent
mellitus III
autosomal dominant
maturity-onset diabetes mellitus.
epidermolysis bullosa
Cockayne-Touraine type
autosomal dominant
serous sanguineous traumatic blisters,
involving only hands/feet, mainly in
warm weather after walking/hand labor.
It is the mildest and commonest form of
EBS.
epidermolysis bullosa resembling
simplex/dystrophic/atrophic EB forms,
and dermatitis herpetiformis,
aggregation of tonofilaments in basal
cells with normal dermo-epidermal
junction. It is the severest form of EBS.
generalized serous non-scarring blisters,
increasing in the warm season, mainly
involving soles/toes, fingers, heels;
normal teeth and nails, onset at birth or
first months of life.
generalized epidermal fragility, serous
seasonal hands/feet blistering.
epidermolysis bullosa Dowling- autosomal dominant
Meara type
late onset diabetes with reduced insulin
secretory response.
Bibliography[OMIM]:
217300
122100
Genetic Diseases of
the Eye. Ed. Elias I.
Traboulsi 1998, p.218
222000
Nature Genet.14,9094,1996
601407
J.Clin.Invest.99,582591,1997
600496
131800
131760
epidermolysis bullosa simplex
Koebner type
autosomal dominant
epidermolysis bullosa simplex
Ogna type
autosomal dominant
erythroderma ichthyosiformis
bullous
autosomal dominant
congenital widespread areas of blisters,
followed by generalized hyperkeratosis.
113800
glycogenosis VII
autosomal recessive
232800
171860
hip dysplasia Namaqualand
type
supposed autosomal dominant
histidinemia
autosomal recessive
Holt-Oram syndrome
autosomal dominant
juvenile onset; myopathy, hemolysis
induced by exercises, recurrent
jaundice, mild erythrocytosis, gout,
hyperuricemia.
choldhood onset; hip discomfort due to
femoral capital epiphyses changes, with
secondary degenerative arthropathy,
platispondyly, other minor findings.
hyper-histidinemia, mental retardation
,corpus callosum agenesis, other
defects.
thumb anomaly, atrial septal defect,
other cardiac/limb defects.
insulinoma
autosomal dominant
Kallmann syndrome 1
X-linked recessive
keratoderma palmoplantaris
Bothnian type
autosomal dominant
keratosis follicularis
autosomal dominant
Genus Clinical Database
diabetes due to insulinoma amyloid
polypeptide.
hypogonadotropic hypogonadism,
anosmia, cryptorchidism; occasionally
arhinencephaly, other clinical data.
diffuse nonepidermolytic variety of
palmoplantar keratosis.
keratotic papules in seborrheic areas;
occasionally mild mental retardation,
seizures.
chromosome 12q localization
131900
Prenat.Diagn. 20,371377,2000
131950
12014.0006
235800
142900
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 316
147940
601707
Hum.Molec.Genet.3,17
89-1793,1994
600231
124200
58 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Kniest dwarfism
autosomal dominant
dysproportionate metatropic-like
dwarfism, flat face, cleft palate,
deafness, myopia, primary glaucoma,
other ocular defects, kyphoscoliosis,
lordosis, contractures, X-ray anomalies.
leukokeratosis mucosal
autosomal dominant
lipomas symmetric familial
autosomal dominant
mevalonic aciduria
autosomal recessive
monilethrix
autosomal dominant
supposed autosomal recessive
supposed genetic heterogeneity
autosomal recessive
present at birth; asymptomatic white
folded soft hyperplastic lesions,
involving oral/vaginal/anal other
mucosae, often mistaked for leukoplakia.
151900
adult onset; gradually increased,
multiple, encapsulated, subcutaneous
lipomas from a few to several hundred.
251170
psychomotor/growth retardation,
diarrhea, gastroentheropahies
resembling cow's milk intolerance,
hypotonia, microcephaly, seizures,
mental retardation, dysmorphic
triangular facies, cataract,
hepatosplenomegaly.
158000
friable short beaded hair, baldness,
follicular hyperkeratosis, cataract, other
defects.
mucopolysaccharidosis IIID
myopia autosomal dominant 2
clinical features of Sanfilippo syndrome,
due to N-acetylglucosamine-6-sulfate
sulfatase deficiency.
congenital/shortly after birth familial
myopia. Retinal detachment. Eye
isolated anomaly.
nocturnal enuresis 2
autosomal dominant
nocturnal enuresis (nightly bedwetting)
without other neurologic disorders such
as spina bifida occulta.
Noonan syndrome
autosomal dominant
short stature, dysmorphism,
hypertelorism, webbed neck, pectus
deformity, clynodactyly , other skeletal
defects, pulmonary stenosis, mild
mental retardation, skin pigmentation,
hypogenitalism.
olivopontocerebellar atrophy II
autosomal dominant
osteoarthritis-mild
chondrodysplasia
supposed autosomal dominant
every age onset; sensory ataxia,
cerebellar signs, dementia, optic
atrophy, ophthalmoplegia.
mild chondrodysplasia with primary
generalized osteoarthritis.
osteoarthrosis precocious
Bibliography[OMIM]:
156550
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 360
193900
252940
603221
Am.J.Hum.Genet.63,1
419-1424,1998
J.Med.Genet.34,360365,1997
600808
163950
Prenat.Diagn.19,642647,1999
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 122
183090
12014.0003
autosomal dominant
multifactorial
pachyonychia congenita
genetic heterogeneity
Jadassohn-Levwandowsky type supposed autosomal dominant
supposed autosomal recessive
early-onset familial osteoarthrosis.
165720
nail bed hypertrophy, red/yellow horn
nails, skin/oral mucous lesions,
hypodontia, short stature, mental
retardation, ocular defects, intestinal
diverticuli.
phenylketonuria I
autosomal recessive
Rendu-Osler-Weber 2
autosomal dominant
vomiting, seizures, irritability, mental
retardation, eczematoid eruptions, blue
eyes, blond hair, fair skin, "mousy"
smell, due to phenylacetic acid in the
urine and sweat.
skin/mucous membranes
telangiectasias, choroidoretinal
changes, recurrent
nasal/gastrointestinal/bladder
hemorrhage, normal coagulation factors;
pulmonary arteriovenous fistulas less
frequent than HHT1.
167200
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 548
261600
Genus Clinical Database
chromosome 12q localization
Hum.Molec.Genet.4,94
5-949,1995
600376
601284
59 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
rickets vitamin D-dependent
type 1
autosomal recessive
rickets-alopecia syndrome
autosomal recessive
spinal muscular atrophy adult
type
supposed autosomal dominant
spinal muscular dystrophy
Frijns type
autosomal dominant
first year onset; hypotonia, weakness,
growth failure, enamel defects, bony
deformities, fractures, convulsions,
tetany, diminished renal synthesis of
1,25-dihydroxyvitamin D.
first years of age onset; hypotonia,
weakness, growth failure, hypocalcemic
rickets/osteomalacia, alopecia,
secondary hyperparathyroidism, high
1,25(OH)2 D levels.
progressive scapulo-humeral hypotonia,
weakness, fourth/sixth decade onset,
respiratory failure.
nonprogressive, congenital spinal
muscular atrophy of lower limbs, pes
equinovarus, contractures of knees.
spondyloepiphyseal dysplasia
congenital type
autosomal dominant
supposed genetic heterogeneity
prenatal growth deficiency, short trunk,
dwarfism with retarded ossification, flat
face, cleft palate, myopia, retinal
detachment, cataract, hypotonia,
deafness.
spondylometaepiphyseal
dysplasia congenita Strudwick
type
supposed autosomal dominant
Stickler syndrome I
autosomal dominant
congenital disproportionate short trunkshort limb dwarfism, pectus carinatum,
severe genua valga, normal skull/facies,
cleft palate.
slender body, congenital myopia,
occasionally cataract, primary
glaucoma, other ocular defects, flat
faces, joints enlargement, epiphyseal
changes, joint hyperextensibility.
testiculat tumor
supposed autosomal recessive
Thomas myopathy
autosomal dominant
tuberous sclerosis-1
autosomal dominant
genomic imprinting
facial adenoma sebaceum
(angiofibroma), epilepsy, mental
retardation, vitiligo, ocular changes.
Potentially maternal imprinting.
Possibility of brain tumor, includind
astrocytoma. Occasionally detection
cranial abnormalities, rabdomyosarcoma
in prenatal eepoch.
tuberous sclerosis-3
autosomal dominant
tyrosinemia III
supposed autosomal recessive
ulnar-mammary syndrome
autosomal dominant
genetic heterogeneity
supposed X-linked dominant
clinical features of tuberous sclerosis
due to a gene mapping on chromosome
12.
mild mental deficiency, without hepatic
dysfunction.
upper limbs anomalies, involving ulnar
ray structures, apocrine-mammary
defects, characterized by axillary hair,
absence small/absent mammary glands
and nipples.
testicular teratoma; germ cell tumor;
seminoma. More than coincidental
association with Klinefelter syndrome.
muscular scapuloperoneal dystrophy.
Bibliography[OMIM]:
264700
277440
601769
158590
Muscle Nerve 17,192197,1994
600175
183900
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 358
184250
108300
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 282
273300
181430
191100
Prenat.Diagn.19,575579, 1999
J.Med.Genet.20,303312, 1983
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 506
191091
276710
181450
chromosome 13 localization
breast cancer ductal-1
sporadic
undefinable
carboxypeptidase N deficiency
autosomal recessive
Genus Clinical Database
211410
176705
188825
angioedema, chronic urticaria, hay fever, 212070
asthma.
frequently bilateral multifocal breast
cancer in premenopausal women or in
males.
chromosome 13 localization
60 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Bibliography[OMIM]:
chromosome 13p localization
muscular dystrophy limb-girdle autosomal recessive
type 2A
253600
second decade onset; hip/shoulder
proximal muscles weakness, difficulty
climbing, stairs/holding hands above
head, low back pain, occasionally
cardiomyopathy/pseudohypertrophy/high
serum creatine kinase levels.
chromosome 13q localization
adamantinoma of long bones
supposed autosomal dominant
bladder cancer
supposed autosomal dominant
cataract zonular pulverulent 3
autosomal dominant
congenital caratact.Eye isolated
anomaly.
ceroid lipofuscinosis Finnish
variant late infantile type
autosomal recessive
deafness neurosensory
autosomal dominant-3
autosomal dominant
deafness neurosensory
autosomal recessive-1
autosomal recessive
Dubin-Johnson disease
autosomal recessive
ectodermal dysplasia, hydrotic
autosomal dominant
supposed genetic heterogeneity
Factor VII deficiency
autosomal recessive
Factor X deficiency
autosomal recessive
HHH syndrome
autosomal recessive
mitochondrial
hyperglycinemia ketotic I
autosomal recessive
first months of age onset; microcephaly,
seizures, ataxia, retinal degeneration,
optic atrophy, psychomotor decline, loss
of speech; pathologic inclusion body.
Hum/Mol.Genet.3,221
dominant form of neurosensory
9-2222,1994
deafness; could be the same gene of
DFNB1.
601544
220290
congenital autosomal recessive
neurosensory deafness. Could be the
same gene of NSDD1.
237500
mild icterus, due to chronic benign
conjugated hyperbilirubunemia.
129500
spars hair, scanty eyelashes, cataract,
brows dystrophic nails, thick pigmented Smith's Recognizable
palms/soles skin, normal sweet glands
Patterns of Human
and teeth.
Malformation. 5th
Edition pag. 546
bleeding manifestation from birth,
227500
neurologic complications, protrombin
time prolonged with normal partial
thromboplastin time, reduced Factor VII
activity.
227600
congenital bleeding, ecchymosis,
epistaxis, menorrhagia, hematuria, other
hemorrhagic manifestations, even after
trauma or surgery.
238970
protein intollerance, seizures, vomit,
tremor, paraparesis, hemihypotrophy,
spastic diplegia, hemiparesis,
hemiathetosis, mental retardation,
lethargy, hyperammonemic coma,
mitochondrial changes.
232000
early onset; vomiting, acidosis,
leokopenia, thrombocytopenia,
infections, transient purpura, mental
retardation, variable neurological
findings.
Genus Clinical Database
low-grade malignant tumor of unknown
histogenesis, involving long bones,
particularly the tibia.
familial malignant bladder tumor.
chromosome 13q localization
102660
109800
190020
190070
Am.J.Hum.Genet.60,1
474-1478,1997
601885
256731
61 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Letterer-Siwe disease
autosomal recessive
megacolon
autosomal dominant
multifactorial
supposed genetic heterogeneity
microcoria congenital
supposed autosomal dominant
Moebius syndrome
supposed autosomal dominant
infancy onset; usually acute fulminating
disorder, fever, anemia, cutaneous rash,
mucous bleeding, very enlarged spleen
and liver, pulmonary involvement,
multiple osteolytic areas, typical
histiocytes disseminated proliferation.
costipation leading to neonatal intestinal
obstruction or chronic
constipation/obstipation, abdominal
distention, deficiency/absence of
ganglion cells. Neuroblastoma tendency.
small pupils due to hypoplasia of the iris
dilator muscle. Eye isolated anomaly.
mask-like facies, bilateral facial diplegia,
strabismus.
muscular dystrophy limb-girdle autosomal recessive
type 2C
nocturnal enuresis 1
autosomal dominant
Oguchi disease
autosomal recessive
osteogenic sarcoma
supposed autosomal recessive
pancreas congenital hypoplasia supposed autosomal recessive
before 5 years of age onset; in both
sexes, pelvic weakness, slow
progression, calves
pseudohypertrophy,ability to walk until
adult age, cardiomyopathy in later age,
high serum creatine kinase levels.
nocturnal enuresis (nightly bedwetting)
without other neurologic changes such
as spina bifida occulta.
stationary nightblindness, peculiar
fundus discoloration, modified by dark
adaptation. Eye isolated anomaly.
usually secon decade of life onset; pain
tender mass at the metaphyseal end of
a long bone, frequent high alkaline
phosphatase levels.
intrauterine growth retardation, earlyonset insulin dependent diabetes,
diarrhea.
white pupillar "cat's eye reflex",
strabismus, typical ophthalmoscopic
changes. Occasionally, detected in
fetus. Eye isolated anomaly.
iris/cornea dysgenesis associated with
other clinical changes. Primary
glaucoma.
retinoblastoma
autosomal dominant
Rieger sequence-2
autosomal dominant
Stargardt disease-2
autosomal dominant
genetic heterogeneity
progressive macular dystrophy with
flecks.Eye isolated anomaly.
Viljoen-Smart syndrome
supposed autosomal dominant
microphthalmos, microcornea, mental
retardation, cleft lip/palate, de novo 6;13
translocation.
Wilson disease
autosomal recessive
xeroderma pigmentosum VII
autosomal recessive
hepatic dysfunction, corneal kayserfleischer ring, "sunflower cataract
(chalcosis lentis), ataxia, tremor, other
neurological defects.
normal or mild physical/neurologic
developmental delay, with mild
cutaneous changes and without UVinduced tumors; keratoacanthomas,
other clinical changes.
Bibliography[OMIM]:
246400
142623
156600
157900
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 230
253700
600119
Prenat.Diagn.18,13001303, 1998
Nature Genet.10,354356,1995
600631
258100
259500
260370
180200
601196
600697
Am.J.Hum.Genet.59,6
13-619,1996
601499
Am.J.OphThal.117,545
-546,1994
153900
Clin.Dysmorph.2,274277,1993
601349
277900
278780
chromosome 14 localization
Genus Clinical Database
chromosome 14 localization
62 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
achromatopsia
autosomal recessive
mucopolysaccharidosis IIIC
autosomal recessive
porphyria variegata
autosomal dominant
absence of cone function, normal rod
function. Eye isolated anomaly.
phenotype of Sanfilippo syndrome, due
to alpha-glucosamide Nacetyltransferase deficiency.
photosensitivity, skin lesions, vesicles,
bullae, erosion, scarring, hypertrichosis,
chronic or acute attacks of
peripheral/abdominal pain, motor
paralysis, seizures, other neurological
signs.
Bibliography[OMIM]:
216900
252930
176200
chromosome 14p localization
paraplegia spastic hereditary-3
autosomal dominant
genetic heterogeneity
variable age of onset, progressive
spastic paraplegia.
182600
chromosome 14q localization
agammaglobulinemia nonBruton type
autosomal recessive
genetic heterogeneity
agammaglobulinemia due to blockage in J.Clin.Invest.98,15191526,1996
differentiation of the proB cells.
601495
Alzheimer type 1
autosomal dominant
genomic imprinting
multifactorial
supposed mitochondrial
autosomal dominant
genomic imprinting
multifactorial
autosomal dominant
dementia with onset before or after age
65. Potentially paternal imprinting.
104300
Alzheimer disease late onset dementia.
Potentially paternal imprinting.
104310
early onset, presenil Alzheimer disease.
104311
antichymotrypsin alpha1
deficiency
autosomal dominant
107280
antitrypsin alpha-1 deficiency
autosomal recessive
cardiomyopathy dilated right
ventricular-1
autosomal dominant
cardiomyopathy dilated right
ventricular-3
autosomal dominant
wide ranges of liver and lung
involvement, chronic hepatitis, asthmalike disease.
emphysema, breath shortness, neonatal
cholestasis, cirrhosis.
arrhythmias, sinoatrial/atrioventricular
block, embolism, tachycardia, right
ventricle dilatation, characteristic ECG,
angiographic features, sudden death.
arrhytmia, sinoatrial/atrioventricular
block,embolism, tachycardia, right
ventricular dilatation, characteristic
ECG, angiographic features, sudden
death.
left ventricle hypertrophy, muscular
subaortic stenosis, fatigability, dyspnea,
angina, arrhythmia W-P-W type.
cataract anterior polar. dense white
opacities of the central part of the
anterior lens capsule.May be associated
with other congenotal malformations of
the anterior segment of the eye. Eye
isolated anomaly.
generalized taut, shiny encasemnt at
birth, including the face, defined as
'collodion membrane'.
Alzheimer type 2
Alzheimer type 3
cardiomyopathy hypertrophic-1 autosomal dominant
cataract anterior polar 1
autosomal dominant
collodion baby
autosomal recessive
Genus Clinical Database
chromosome 14q localization
107400
107970
Brit.Heart J.71,215218,1994
602086
192600
160760
115650
242300
63 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
cystinuria I
autosomal recessive
deafness neurosensory
autosomal dominant-9
autosomal dominant
radio-opaque cystine calculi,
renal/ureteral colic, hematuria, disuria,
urinary tract infections, unconstant short
stature, mental retardation, psychiatric
disturbance. Normal aminoaciduria in
heterozygotes.
progressive postlingual sensorineural
deafness.
deafness neurosensory
autosomal recessive-5
autosomal recessive
early onset neurosensory deafness;
diabetes mellitus insulindependent 11
autosomal dominant
diabetes mellitus, insulin-dependent.
dibasicaminoaciduria II
autosomal recessive
erythroderma ichthyosiform
nonbullous recessive
autosomal recessive
factor V-VIII combined
deficiency
autosomal recessive
fibrodysplasia ossificans
progressiva
autosomal dominant
glycogenosis VI
autosomal recessive
goiter familial
autosomal recessive
failure to thrive, vomiting,
hepatosplenomegaly, hypotonia,
osteoporosis, stupor/lethargy,
occasionally mental retardation, lens
opacities.
severe generalized hyperkeratotic
cornification, with large dark scales,
facial tautness, ectropion, spared hair,
characteristic ultrastructural changes.
congenital hemorrhagic disorder due to
combined deficiency of factor V and
factor VIII.
firm, warm, tender, subcutaneous
masses becoming bony hard in
consistency, short hallux,
hypogenitalism, deafness, severe
restriction of movement, fractures, mild
mental retardation, new extracartilage
and bone formations; childhood onset.
hypoglycemia, hepatomegaly,
hypotonia, growth retardation.
congenital goiter; thyroglobulin low
levels.
goiter multinodular of
adolescent
autosomal dominant
juvenile onset; nontoxic goiter with firm,
nodular calcification without defects in
thyroid hormonogenesis.
holoprosencephaly 4
autosomal dominant
Holt-Oram syndrome
autosomal dominant
semilobar holoprosencephaly,
hypotelorism, ptosis, nasal septum
absence, midline cleft lip-palate.other
clinical data.
thumb anomaly, atrial septal defect,
other cardiac/limb defects.
hyper-immunoglobulin G1(A1)
syndrome
supposed autosomal dominant
chronic fatigue, autoantibodies modified
levels, other clinical-laboratory data.
immunoglobulin gamma 1
deficiency
autosomal dominant
recurrent pyogenic infections, due to
gammaglobulin 1 deficiency.
147100
immunoglobulin gamma 2
deficiency
autosomal dominant
recurrent pyogenic infections, due to
gammaglobulin 2 deficiency.
147110
immunoglobulin gamma 4
deficiency
autosomal dominant
recurrent pyogenic infections, due to
gammaglobulin 4 deficiency.
147130
Genus Clinical Database
chromosome 14q localization
Bibliography[OMIM]:
220100
Hum.Mol.Genet.5,104
7-1050,1996
601369
Hum.Mol.Genet.4,164
3-1648,1995
600792
Genomics 33,1-8,1996
601208
222700
Prenat.Diagn.19.771773,1999
242100
227300
135100
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 492
232700
600635
J.Biol.Chem.270,81088114,1995
601843
188450
138800
601843
188450
142946
142900
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 316
144120
64 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
leukemia-lymphoma T-cell
supposed multifactorial
undefinable
leukodystrophy globoid cell
type
autosomal recessive
Machado-Joseph syndrome
autosomal dominant
microphthalmos autosomal
recessive
autosomal recessive
genetic heterogeneity
nucleoside phosphorilase
deficiency
autosomal dominant
oculopharyngeal myopathy
syndrome
autosomal dominant
supposed autosomal recessive
supposed genetic heterogeneity
autosomal dominant
erythroderma, skin infiltrations,
neutropenia, hepatosplenomegaly
without lymphadenopathy, neurological
involvement.
severe mental retardation, motor
deterioration, hypertonicity,
opistothonus, optic atrophy, deafness,
decerebrated status.
late onset ataxia, parkinson-like
features, nystagmus, muscle atrophy,
rare faciolingual fascilulations, diabetes
mellitus.
slight/severe reduction in size of the
globes, anophthalmos, ocular cysts.
Occasionally retinalk changes
resembling pseudoglioma. Eye isolated
anomaly.
ataxia, hemolytic anemia, recurrent
infections, severely depressed T-cell
immunity with usually normal B-cell
immunity.
dysphagia, bilateral ptosis, external
ophthalmoplegia, proximal muscle
dystrophy; late onset.
olivopontocerebellar III
phenylketonuria atypical severe autosomal recessive
retinitis pigmentosa autosomal
recessive
autosomal recessive
genetic heterogeneity
sclerosis multiple
multifactorial
supposed autosomal dominant
situs inversus viscerum
supposed autosomal recessive
spherocytosis type I
autosomal dominant
thyrotropin unresponsiveness
supposed autosomal recessive
torsion dystonia Segawa type
autosomal dominant
transcortin asymptomatic
decreasing/increasing
autosomal dominant
ulnar-fibular dimelia
sporadic
Usher IA syndrome
autosomal recessive
Usher IIA syndrome
autosomal recessive
Welander dystrophy
autosomal dominant
Genus Clinical Database
Bibliography[OMIM]:
186880
245200
109150
251600
164050
164300
ataxia, dysarthria, characteristic retinal
changes, infancy/adult onset.
severe muscular trunk hypotonia, and
limbs hypertonia, seizures, hyperthermia
without infections, mental retardation.
infantile, juvenile, adult onset; retinitis
pigmentosa.
164500
motor/sensory problems, optic neuritis,
vertigo, diplopia, bladder/bowel
disturbances.
in total situs inversus: complete
transposition of gastrointestinal tract
with normal stomach position and liver
on the left side, dextrocardia.
hemolytic anemia, spherocytosis.
126200
233910
268000
180072
270100
182870
275200
clinical stigmata of congenital
hypothyroidism, mental/growth
retardation, normal size of the thyroid
gland.
128230
insidious infancy onset; postural/motor
disturbance showing marked diurnal
fluctuation, alleviated after sleep and
aggravated toward evening;
improvement by L-DOPA administration.
122500
asymptomatic, low/high cortisol
plasmatic concentration.
double ulna and double fibula, absence
of tibia and radius, mirror hands, partial
nasal cleft, peculiar facies.
profound congenital deafness, with
retinitis pigmentosa by age 10,
occasionally cataract, sensory ataxia,
mental retardation.
moderate/severe congenital deafness,
occasionally cataract, retinitis
pigmentosa in late teens.
adult life onset; weakness of hand
movements, spreading proximally to the
forearm; usually, muscle legs are spared
or involved later.
chromosome 14q localization
135750
276900
276901
160500
65 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Bibliography[OMIM]:
chromosome 15q localization
adrenal hyperplasia I
autosomal recessive
albinism oculocutaneous II
autosomal recessive
Albright osteodystrophy-2
amyloidosis hemodialysis
related
undefinable
amyotrophic lateral sclerosis 5
hypospadias, external genitalia failure,
undergo masculine development, error
in adrenal metabolism.
decreased skin/hair/eyes pigmentation,
nystagmus, photophobia, choroidoretinal
defects, iridal dyschromia, tyrosinase
positive test.
short stature, obesity, round face,
brachydactyly, fourth/fifth short
matacarpals, absent 4th knuckles,
ectopic calcification/ossification, mental
retardation, cataract, iridal changes,
hypocalcemia, parathyroid hyperplasia,
high PTH levels.
chronic renal failure, carpal tunnel
syndrome, spondyloarthropathy, lytic
bone lesions.
juvenile onset with slow progression;
weakness, hypotonia, muscular atrophy,
spastic amyotrophy.
Andermann disease
autosomal recessive
Angelman syndrome
genomic imprinting
supposed autosomal recessive
supposed contiguous genes
Bardet-Biedl syndrome type 2
autosomal recessive
postaxial polydactyly, hypogonadism,
obesity, mental retardation, pigmentary
retinopathy. Chromosome 16q
localization.
Bartter syndrome type 1
autosomal recessive
Bloom syndrome
autosomal recessive
corpus callosum agenesis, mental
retardation, peripheral neuropathy,
choroidoretinal changes, optic atrophy,
dysmorphism.
mental retardation, microcephaly,
prognatism, happy disposition,
choroidoretinal changes, optic atrophy,
iridal changes, paroxysms laughter.
Potentially maternal imprinting.
cardiomyopathy hypertrophic-3 autosomal dominant
growth/mental retardation, weakness,
polyuria, hypokalemic alkalosis,
hyperaldosteronism with low blood
pressure, nephrocalcinosis.
low birth weight, dwarfism, cutaneous
rash due to sensitivity to sunlight,
hypo/hyperpigmentation spots, severe
immunodeficiency, thin face with large
nose, chomosome defects, propensity
for leukemia.
hypertrophic cardiomyopathy.
cataract congenital-2
autosomal dominant
total congenital cataract.
ceroid lipofuscinosis juvenile
autosomal recessive
pigmentary retinopathy, motor/psychotic
disturbance, seizures, myoclonia.
ceroid lipofuscinosis late
infantile variant
autosomal recessive
intellectual decline, ataxia, seizures,
retinal degeneration, optic atrophy.
Cytosomes with curvilinear profile in the
uncultured amniotic fluid.
Genus Clinical Database
chromosome 15q localization
201710
600617
203200
103581
109700
602099
Am.J.Hum.Genet.61(s
uppl.), A279 only,1997
218000
234400
601623
105830
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 200
Prenat.Diagn.20,300306,2000
209900
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 590
241200
600839
210900
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 104
115196
Hum.Genet.61,338341,1982
204200
Prenat.Diagn.20,337339,2000
Hum.Mol.Genet.6,591595,1997
601780
Prenat.Diagn.19,685688,1999
66 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
craniosynostosis type 1
autosomal dominant
genetic heterogeneity
multifactorial
supposed autosomal recessive
diabetes mellitus insulindependent 3
autosomal dominant
premature closure of sutures, leading to
abnormally shaped head, including
brachycephaly, oxycephaly,
plagiocephaly,turricephaly/acrocephaly,
cloverleaf skull.
insulin-dependent adult-onset diabetes
mellitus.
dyserythropoietic anemia I
supposed autosomal recessive
dyserythropoietic anemia III
autosomal dominant
dyslexia 1
autosomal dominant
glutaricaciduria IIA
autosomal recessive
mitochondrial
Griscelli syndrome
autosomal recessive
gynecomastia aromatase
activity increased
autosomal recessive
genetic heterogeneity
sex-limited, sex influence
hepatic lipase deficiency
autosomal dominant
Hermansky-Pudlak syndrome
autosomal recessive
hypomelanosis of Ito
supposed autosomal dominant
isovaleric acidemia
autosomal recessive
lens ectopia congenital
autosomal dominant
autosomal dominant
genetic heterogeneity
Genus Clinical Database
pallor, weakness, mild macrocytic
anemia, juvenile onset,
hyperbilirubinemia, normal reticulocytes,
splenomegaly, hemochromatosis,
occasionally brachy-syndactyly, mild
short stature.
refractory anemia, juvenile onset,
ineffective erythropoiesis with
multinucleated erythroblasts,
hepatosplenomegaly, hemochromatosis.
slow reading, reduced comprehension,
words distortion or omission associated
with behavioral and emotional
dysfunctions.
variable age onset; hypotonia, visceral
fatty degeneration, lethargy, coma,
sudden death. Mild and severe cases
occurring.
partial albinism, choroidoretinal
changes, pyogenic infections,
neutropenia, thrombocytopenia, acute
episodes of fever, immunological
defects.
progressing gynecomastia, around 10
years onset, in otherwise normal male,
advanced bone age, excessive
peripheral conversion of androgen to
estrogen. Female limited disease. Malelimited inheritance.
dyslipidemia, premature coronary
atherosclerosis.
albinism oculocutaneous, iridal changes,
bleeding tendency, peculiar systemic
pigmented reticuloendothelial cells.
mental retardation, seizures,
asymmetrical whorl-like
hypopigmentation areas, ocular
changes, other findings.
Bibliography[OMIM]:
123100
Nature Genet. 8,189194,1994
600318
224120
105600
127700
231680
214450
107910
151670
203300
146150
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 504
first days of life onset; vomiting, acidosis 243500
without ketoaciduria or aminoacidemia,
severe rapid neurological signs, mental
retardation, characteristic "sweaty feet"
odor.
129600
poor vision, monocular diplopia with
bilateral lens dyslocation
upward/temporally, iridodonesis, deep
inferior chamber. Eye isolated anomaly.
chromosome 15q localization
67 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Marfan syndrome I
Inheritance:
Synthesis:
autosomal dominant
tall stature, dolichostenomelia,
arachnodactyly, scoliosis, chest
deformity, upward lens dislocation,
primary glaucoma, other ocular
changes, joint laxity, aortic/mitral
involvement, tricuspid valve
regurgitation, mitral annulus
calcification, long slendeer limbs, arm
span greater than height, little
subcutaneous fat, hypotonia; arterial
dissections.
second decade onset; hip/shoulder
proximal muscles weakness, difficulty
climbing, stairs/holding hands above
head, low back pain, occasionally
cardiomyopathy/pseudohypertrophy/high
serum creatine kinase levels.
myoclonic epilepsy, juvenile onset,
isolated myoclonic, jerks, usually in the
morning.
progressive conductive/mixed hearing
loss, young/middle-age onset.
juvenile/adult onset. Weakness,
progressive spastic paraplegia,
occasionally sphincter incontinence
muscular dystrophy limb-girdle autosomal recessive
type 2A
myoclonus-epilepsy Janz type
autosomal recessive
otosclerosis
autosomal dominant
paraplegia spastic hereditary-6
autosomal dominant
genetic heterogeneity
Prader-Willi syndrome
autosomal dominant
genomic imprinting
supposed contiguous genes
Tay-Sachs disease
autosomal recessive
tyrosinemia I acute form
autosomal recessive
tyrosinemia I chronic form
autosomal recessive
Weill-Marchesani dominant
form
autosomal dominant
genetic heterogeneity
Bibliography[OMIM]:
154700
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 472
253600
254770
166800
Neurology 46,835836,1996
600363
176270
decreased fetal movements, breech
delivery, almond-shaped eyes, full
Smith's Recognizable
cheeks, severe hypotonia,
Patterns of Human
hypogenitalism, polyphagia, obesity,
Malformation. 5th
short stature, hypopigmentation, iridal
Edition pag. 202
changes. Potentially paternal imprinting. Prenat.Diagn. 20,300306,2000
psychomotor delay, seizures, hypotonia, 272800
visual defect, choroidoretinal changes,
apathy, exagerated responses to sound.
276700
first months age onset; failure to thrive,
fever, lethargy, irritability, hepatomegaly,
cirrhosis, jaundice, hemorrhage, sweet
peculiar odor.
276700
renal tubular dysfunction, rickets,
hepatic failure/cirrhosis, occasionally
mental retardation, other neurologic
abnormalities.
Am.J.Med.Genet.65(1)
short stature, short hand, myopia, lens
,68-75,1996
dislocation, articular stiffnes.
chromosome 16 localization
cylindromatosis
autosomal dominant
genetic heterogeneity
supposed X-linked dominant
cystathioninuria
autosomal recessive
Jabs syndrome
autosomal dominant
Genus Clinical Database
solitary/multiple, sessile or pedunculated 123850
smooth nodules on the scalp,
occasionally face/neck/trunk, onset in
early adulhood. May be the same as
Spiegler-Brooke syndrome.
219500
mental retardation, acromegaly,
diabetes insipidus nephrogenic, heart
disease, urolithiasis, thrombocytopenia,
convulsions, other anomalies.
symmetric polysynovitis, granulomatous 186580
inflammation, cutaneous rash, cranial
neuropathies, deafness, ocular
involvement including uveitis and
cataract.
chromosome 16 localization
68 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
tuberous sclerosis-1
Inheritance:
Synthesis:
autosomal dominant
genomic imprinting
facial adenoma sebaceum
(angiofibroma), epilepsy, mental
retardation, vitiligo, ocular changes.
Potentially maternal imprinting.
Possibility of brain tumor, includind
astrocytoma. Occasionally detection
cranial abnormalities, rabdomyosarcoma
in prenatal eepoch.
Bibliography[OMIM]:
191100
Prenat.Diagn.19,575579, 1999
J.Med.Genet.20,303312, 1983
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 506
chromosome 16p localization
alpha-thalassemia/mental
retardation syndrome
contiguous genes
supposed X-linked recessive
Brook-Carter syndrome
contiguous genes
cerebellar degeneration-related autosomal dominant
autoantigen-2
mental retardation associated with alpha- 301040
thalassemia.
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 278
severe infantile polycystic kidney
Nature Genet. 8,328associated with tuberous scerosis.
332,1994
600273
117340
paraneoplastic cerebellar degeneration
related to antigen CDR62.
ceroid lipofuscinosis juvenile
autosomal recessive
pigmentary retinopathy, motor/psychotic
disturbance, seizures, myoclonia.
Crohn disease
no genetic
supposed autosomal recessive
undefinable
terminal ileum nonspecific
segmental/plurisegmental inflammatory
disease, with acute and chronic course,
gastrointestinal tumor tendency.
anemia, jaundice, splenomegaly, acute 140700
hemolytic episodes by exposure to
oxidant drugs/infections, Heinz-bodies in
the erithrocytes due to unstable
hemoglobin fraction.
602066
paroxysmal choreoathetosis, infantile
convulsion.
Hum.Genet.103,608612,1998
177200
polydipsia/polyuria, hypertension,
potassium loss with normal renal
600760
function.
600761
249100
childhood/juvenile onset; recurrent
episodes of fever, abdominal/chest pain,
peritonitis, pleuritis, associated fingings,
occasionally suggesting acute
polyarthritis.
141750
Hb H disease, with hypochromic
microcytic anemia and mental
retardation.
microphthalmos, congenital cataract
156850
with/without other defects eye. Eye
isolated anomalies.
painless/painful muscle cramps induced 108730
by walking or exercise.
601003
hemoglobin variants Heinz-body autosomal dominant
ICCA syndrome
autosomal dominant
Liddle syndrome
supposed autosomal dominant
Mediterranean fever familial
autosomal recessive
mental retardation-hemoglobin
H
autosomal dominant
microphthalmos-cataract
autosomal dominant
myopathy Brody type
autosomal recessive
supposed genetic heterogeneity
polycistic kidney disease 1
autosomal dominant
genomic imprinting
Genus Clinical Database
late onset; progressive, bilateral
medullary cysts enlargment in kidneys,
with/without renal failure, liver cysts,
occasionally cerebral cysts, ocular
anomalies and other organs
involvement. Potentially maternal
imprinting.
chromosome 16p localization
204200
Prenat.Diagn.20,337339,2000
266600
601458
173900
601313
69 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
pseudoxanthoma elasticum
autosomal recessive type I and
II
autosomal dominant
autosomal recessive
genetic heterogeneity
retinitis pigmentosa-22
autosomal recessive
diffusa yellowish nodules xanthomas264800
like, changes in the skin of the flexural
264810
areas, ocular involvement, arterious
rupture, intestinal occlusion, calcified
falx cerebri. Vary rare type II without eye
angioid streaks and vascular changes.
autosomal recessive retinitis pigmentosa. Genomics 48,341345,1998
602594
Rubinstein-Taybi syndrome
autosomal dominant
supposed contiguous genes
supposed genetic heterogeneity
thalassemia alpha
autosomal recessive
thalassemia beta
autosomal recessive
thalassemia-alpha homozygous autosomal recessive
form
tuberous sclerosis-2
autosomal dominant
xeroderma pigmentosum VI
autosomal recessive
thumbs/halluces broad, deviated
terminal phalanges, forehead angioma,
dysmorphism with beaked/straight nose,
mental/growth defects, microcephaly,
sleep apnea, ocular anomalies including
cataract, primary glaucoma.
carriers with erythrocyte hypochromic
microcytosis, mild hyperbilirubinemia;
homozygous with severe anemia,
hepatosplenomegaly, other disturbance,
fetal hydrops, peculiar laboratory data,
placental thickness.
carriers with erythrocyte hypochromic
microcytosis, mild hyperbilirubinemia;
homozygous with Cooley anemia.
nonimmune hydrops fetalis due to
homozygous form of alpha-thalassemia,
inducing hemoglobin Bart's.
clinical features of tuberous sclerosis
due to a gene mapping on chromosome
16.
mild clinical symptoms of xeroderma
pigmentosum, consisting of pigmented
freckles, seborrheic keratosis-like
papules, keratoacanthomas, mild cancer
susceptibility.
Bibliography[OMIM]:
180849
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 92
141800
141900
141800
191092
278760
chromosome 16q localization
adenine
phosphoribosyltransferase
deficiency
supposed autosomal dominant
aldolase A deficiency
supposed autosomal recessive
Bardet-Biedl syndrome type 2
autosomal recessive
cataract perinuclear
autosomal dominant
cataract posterior polar
autosomal dominant
corneal dystrophy macular type autosomal recessive
cortisol 11-beta ketoreductase
deficiency
Genus Clinical Database
autosomal recessive
urinary calculi mistaken for uric acid
stones with/without gout or renal
disease. Total (type I) or partial (type II)
APRT deficiency.
hemolytic anemia, mental retardation,
hepatomegaly.
postaxial polydactyly, hypogonadism,
obesity, mental retardation, pigmentary
retinopathy. Chromosome 16q
localization.
zonular/nuclear/anterior polar/stellate
cataract. Eye isolated anomaly.
congenital type of cataract. Occasionally
posterior lenticonus. Eye isolated
anomaly.
Minute gray punctate opacities, first
decade onset. Galactosidase alpha low
activity in the keratocytes. Eye isolated
anomaly.
hypertension, growth retardation,
hyperkalemia, hypoaldosteronism.
chromosome 16q localization
102600
103850
209900
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 590
116800
116600
217800
Genetic Diseases of
the Eye. Ed. Elias I.
Traboulsi 1998 p.236
218030
70 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
gastric cancer familial
multifactorial
supposed autosomal dominant
undefinable
granulomatous disease
cytochrome-b-negative
autosomal recessive
hypokalemia-hypomagnesemia
supposed autosomal dominant
mucopolysaccharidosis IVA
autosomal recessive
neuropathy giant axonal
autosomal recessive
Norum disease
autosomal recessive
spinocerebellar ataxia 4
autosomal dominant
familial gastric cancer. Occasionally
association with chronic atrophic
gastritis and intestinal metaplasia;
presence of helicobacter pylori.
recurrent pyogenic infections and/or
granulomas, involving skin and any
organ system including bones, due to
cytochrome alpha subunit defect.
chronic dermatitis, episodic of muscle
weakness and tetany, precipitated by
non-specific illness.
short trunk, dwarfism, X-ray changes,
joint laxity, hyperlordosis, corneal
clouding, deafness, lower face
prominent, hyperlordosis, aortic
regurgitation. No mental retardation.
symmetric, progressive distal
weakness/atrophy, ataxia, other
neurological disorders, optic atrophy,
tighthy curled hair.
corneal clouding, anemia, low HDL, high
VLDL, renal failure.
age at onset from 20 to 60 years; gait
disturbance, sensory neuropathy,
dysarthria, ataxia.
Townes-Brocks syndrome
autosomal dominant
trichoepitheliomas
autosomal dominant
supposed genetic heterogeneity
tyrosinemia II
autosomal recessive
Wilms tumor III
autosomal dominant
supposed contiguous genes
imperforate anus, triphalangeal thumbs,
metatarsal fusion, other skeletal defects,
lop ears, deafness, renal anomalies.
translucent papules/nodules, increasing
in number and size, involving nasolabial
folds, nose, forehead, upper lip, external
ears; scalp, neck, upper trunk
characteristic horn cysts, resembling
basal cell epithelioma. May be
associated with cylindromatosiss.
karatitis, hyperkeratosis palms/soles,
mental retardation, hyperactivity,
aberrant behaviour.
Wilms tumor that does not map on
chromosome 11p. Occasionally
congenital form.
Bibliography[OMIM]:
137215
233690
263800
600968
253000
256850
245900
Neurology 44,
A361,1994
600223
107480
132700
601606
276600
194090
chromosome 17 localization
deafmutism I
leukodystrophy globoid cell
type
autosomal recessive
supposed autosomal dominant
supposed genetic heterogeneity
autosomal recessive
medulloblastoma
supposed autosomal dominant
pituitary dwarfism IV
supposed autosomal recessive
sopranuclear palsy, progressive autosomal dominant
Genus Clinical Database
nonallelic form of deafmutism II; severe
sensoryneural deafness from birth,
defective speech and language.
220700
severe mental retardation, motor
deterioration, hypertonicity,
opistothonus, optic atrophy, deafness,
decerebrated status.
cerebellar dysfunction due to neoplasm
of the posterior fossa frequently
associated with isochromosome17q.
growth retardation, delayed bone age,
low somatomedin levels and anomalous
growth hormone structures.
sorpanuclear palsy, gait difficulty,
dystonia, severe akinesia.
245200
chromosome 17 localization
155255
262650
601104
Arch.Neurol.10,333359,1964
Ann.Neurol.41,277281,1997
71 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Bibliography[OMIM]:
chromosome 17p localization
amaurosis congenita Leber I
autosomal recessive
204000
severe impaired visual function, optic
atrophy, nystagmus; occasionally mental 600179
retardation. Eye isolated anomaly.
Genetic Diseases of
the Eye. Ed. Elias I.
Traboulsi 1998 p.373
hemorrhagic diathesis due to PLI defect. 262850
antiplasmin deficiency
autosomal recessive
Bernard-Soulier syndrome
autosomal recessive
breast cancer familial
multifactorial
undefinable
breast cancer-related regulator
of TP53
sporadic
undefinable
breast-cancer associated with loss of
constitutional heterozygosity (LOH) at
17p13.3 containing the TP53 gene.
cataract anterior polar 2
autosomal dominant
cataract anterior polar. Eye isolated
anomaly.
Charcot-Marie-Tooth
neuropathy type 1A
autosomal dominant
genetic heterogeneity
choroidal sclerosis central
autosomal recessive
colorectal cancer-related
chromosome sequence-17
autosomal dominant
neonatal hypotonia; pes cavus,
scoliosis, peroneal muscle weakness,
legs atrophy, sensory ataxia, claw-like
hands. Clinical features more severe
than CMT type 1B, and caused by an
over-expression of a gene found within
duplication in chromosome 17p12.
central areolar choroidal sclerosis. Eye
isolated anomaly.
colorectal carcinomas related to loss of
chromosome 17p sequences.
colorectal familial cancer
Lynch I
supposed autosomal dominant
undefinable
cone-rod retinal dystrophy-5
autosomal dominant
cone-rod retinal dystrophy-6
autosomal dominant
early onset disorder, loss of central
vision followed by loss of peripheral
visual field. Eye isolated anomaly.
deafness neurosensory
autosomal recessive-3
autosomal recessive
congenital deafmutism.
Dejerine-Sottas disease
autosomal dominant
Li-Fraumeni syndrome
supposed autosomal dominant
childhood onset, weakness, areflexia,
palpable enlargement of peripheral
nerves, stocking-glove sensory loss,
cranial nerve involvement, other
neurological defects, ataxia, pes cavus,
ocular changes.
early onset familial cancer syndrome,
breast cancer, brain tumor, sarcoma,
other neoplasms. High level of
polyclonal IgM.
Genus Clinical Database
congenital bleeding disorder, prolonged
bleeding time, moderate
thrombocytopenia, large platelets.
familial bilateral breast cancer.
site-specific colonic cancer changes in
bowel habit, rectal bleeding, abdominal
pain, anemia, weight loss, onset before
40 years. May be the same of Lynch II.
Associated endometrial
carcinoma/atypical hyperplasia, uterine
leiomyosarcoma, renal/bladder
carrcinoma, gastric/biliary carcinoma.
progressive loss of central vision. Eye
isolated anomaly.
chromosome 17p localization
231200
114480
190020
190070
188825
113721
190020
191170
Hum.Mol.Genet.5,415419,1996
601202
118220
Prenat.Diagn.19,446449,1999
601097
215500
120460
190020
116806
114500
190020
116806
Genomics 30,281286,1995
600977
Hum.Molec.Genet.6,59
7-600,1997
601777
Nature Genet.9,8691,1995
600316
145900
601097
151623
72 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Miller-Diker lissencephaly
syndrome
autosomal recessive
supposed contiguous genes
undefinable
myasthenia gravis infantile
autosomal recessive
247200
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 194
multiple flexion contractures, intermittent 254210
myasthenic symptoms, without signs
between crises, fluctuating
ptosis,respiratory distress usually
transient neonatal myastenia gravis,
characterized by episodic feeding
difficulty, easy fatigability, crises of
apnea inducing anoxic brain, injury.
Occasionally polyhydramnios, sudden
death.
162500
neurogenic amyotrophy, inducing
recurrent mono/polyneuropathy,
601097
triggered by compression, or even
slightly stretching of the nerve trunks.
Am.J.Ophthal.121,13progressive loss of visual acuity, cone
18,1996
degeneration. Eye isolated anomaly.
601251
neuropathy pressure palsy type autosomal dominant
retinal cone dystrophy-2
autosomal dominant
retinitis pigmentosa-13
autosomal dominant
retinitis pigmentosa-4
autosomal dominant
Smith-Magenis syndrome
chromosomic
supposed contiguous genes
spongy degeneration
autosomal recessive
Bibliography[OMIM]:
brain without convolutions or gyri,
microcephaly, small mandible, bizarre
facies with wrinkling of the forehead,
failure to thrive, dysphagia, ocular
defects, decerebrate postures.
autosoma dominant retinitis pigmentosa. Am.J.Hum.Genet.57,9
62-965,1995
600059
180380
decreased dim light vision, and
constricted visual fields, with typical
retinal changes. Eye isolated anomaly.
brachycephaly, midface hypoplasia,
182290
deafness, growth/mental retardation,
other clinical findings; chromosome 17p
deletion.
271900
in the first months of life apathy,
sluggishness, spasticyty/ hypotonia,
Prenat.Diagn.19,669blindness, optic atrophy,
670,1999
megalencephaly.
chromosome 17q localization
acanthocytosis band 3 red cell
membrane
autosomal dominant
mild dyserythropoietic anemia,
acanthocytosis.
109270
acetyl-CoA carboxylase
deficiency
autosomal recessive
200350
adrenoleukodystrophy
pseudoneonatal
autosomal recessive
breast cancer type 1
supposed autosomal dominant
hypotonic myopathy, neurological
damage, other clinical findings, due to
ACAC deficiency.
clinical features resembling neonatal
adrenoleukodystrophy with enlarged
hepatic peroxisomes; choroidoretinal
defects, optic atrophy.
familial breast cancer, early onset.
Increased risk of ovarian cancer.
campomelic dysplasia
dominant type
cataract cerulean type-1
autosomal dominant
germinal mosaicism
supposed autosomal recessive
supposed genetic heterogeneity
supposed autosomal dominant
cataract Coppoc-like
autosomal dominant
cataract zonular with sutural
opacities
autosomal dominant
Genus Clinical Database
short-limb dwarfism, bones bowing,
dysmorphic face, lung hypoplasia, sex
reversal, other defects.
peripheral bluish and white
opacifications. Eye isolated anomaly.
cataract embryonic nuclear type. Eye
isolated anomaly.
congenital autosomal dominant zonular
cataract. Eye isolated anomaly.
chromosome 17q localization
264470
113705
190020
188825
114290
115660
123660
Am.J.Hum.Genet.57,8
40-845,1995
600881
73 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
colorectal familial cancer
Lynch I
supposed autosomal dominant
undefinable
114500
190020
116806
dementia Neumann type
supposed autosomal recessive
Ehlers-Danlos VII autosomal
recessive
autosomal recessive
genetic heterogeneity
epidermolysis bullosa BullNorins type
autosomal dominant
autosomal recessive
genetic heterogeneity
autosomal dominant
site-specific colonic cancer changes in
bowel habit, rectal bleeding, abdominal
pain, anemia, weight loss, onset before
40 years. May be the same of Lynch II.
Associated endometrial
carcinoma/atypical hyperplasia, uterine
leiomyosarcoma, renal/bladder
carrcinoma, gastric/biliary carcinoma.
presenile dementia with subcortical
gliosis.
short stature, severe joint hypermobility,
multiple subluxations, floppy infant
aspect, bruisability, dysmorphic face.
pyelonephrosis due to bilateral
ureterovesical junction, stenosis/pyloric
atresia, severe diffuse skin lesions.
serous sanguineous traumatic blisters,
involving only hands/feet, mainly in
warm weather after walking/hand labor.
It is the mildest and commonest form of
EBS.
epidermolysis bullosa resembling
simplex/dystrophic/atrophic EB forms,
and dermatitis herpetiformis,
aggregation of tonofilaments in basal
cells with normal dermo-epidermal
junction. It is the severest form of EBS.
skin blistering affecting predominantly
palmar, plantar dorsal and lateral
surfaces of the feet.
131800
epidermolysis bullosa
Cockayne-Touraine type
epidermolysis bullosa Dowling- autosomal dominant
Meara type
Bibliography[OMIM]:
221820
225410
226730
Prenat.Diagn.20,7075,2000
131760
epidermolysis bullosa simplex
autosomal recessive
autosomal recessive
epidermolysis bullosa simplex
Koebner type
autosomal dominant
epidermolysis bullosa simplex
Ogna type
autosomal dominant
erythroderma ichthyosiformis
bullous
autosomal dominant
congenital widespread areas of blisters,
followed by generalized hyperkeratosis.
113800
frontotemporal lobe dememtia
supposed autosomal dominant
changes in behaviour and personality
reflecting frontal lobe dysfunction.
galactose kinase deficiency
autosomal recessive
Am.J.Hum.Genet.59,1
306-1312,1996
601630
230200
Glanzmann-Naegeli syndrome
glycogenosis IA
autosomal recessive
genetic heterogeneity
autosomal recessive
nuclear and/or zonular cataract in early
infancy, dystonia, peripheral neuropathy.
273800
bleeding diathesis, low/normal platelet
number, with abnormal aggregation.
glycogenosis IIa
autosomal recessive
hirsutism-amenorrheapolycystic ovarium
autosomal recessive
Howell-Evans syndrome
autosomal dominant
hypertension essential
multifactorial
supposed autosomal dominant
Genus Clinical Database
Nature Genet.3,327331,1993
601001
generalized serous non-scarring blisters, 131900
increasing in the warm season, mainly
Prenat.Diagn. 20,371involving soles/toes, fingers, heels;
377,2000
normal teeth and nails, onset at birth or
first months of life.
131950
generalized epidermal fragility, serous
seasonal hands/feet blistering.
hypoglycemic seizures, very large liver,
ketoacidosis, growth retardation,
hypotonia, xanthomas, bleeding
tendency.
progressively severe weakness floppyinfant type, resembling WerdnigHoffmann disease, cardiomegaly,
arrhythmias, macroglossia.
progressive hirsutism, secondary
amenorrhea, polycystic ovarium with
ovarian 17-ketosteroid reductase
deficiency.
esophageal cancer associated with
tylosis; occasionally oral leukoplakia.
usually adult onset; primitive, high blood
pressure values.
chromosome 17q localization
232200
232300
264300
148500
145500
74 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
hyperthermia malignant
autosomal dominant
genomic imprinting
hyperthermia malignant
susceptibility 2
autosomal dominant
hyperthyroidism familial
autosomal dominant
keratoderma palmoplantaris
epidermolytic
autosomal dominant
supposed genetic heterogeneity
keratoderma palmoplantaris
nonepidermolytic
autosomal dominant
Potentially lethal pharmacogenetic
disease. Masseter spasm, arrythmia,
muscle rigidity, metabolic acidosis,
rhabdomyolisis, myoglobinuria,
intravascular coagulation, hyperthermia
during or shortly after general
anesthesia. Caffeine-hallothane
contracture test ansthesia. Maternal
imprinting.
malignant hyperthermia susceptibility
related to a gene located on
chromosome 17q.
hyperthyroidism, due to overstimulation
by inappropriate TSH secretion.
palmaris/plantaris keratosis, with
histologic and kinetic findings of
epidermolysis.
palmoplantar keratoderma associated
with oral and genital lesions.
King-Denborough syndrome
autosomal dominant
genetic heterogeneity
leukokeratosis mucosal
autosomal dominant
Meckel syndrome type 1
autosomal recessive
Mediterranean fever familial
autosomal recessive
mucopolysaccharidosis IIIB
autosomal recessive
MULIBREY syndrome
supposed autosomal recessive
muscular dystrophy limb-girdle autosomal recessive
type 2A
muscular dystrophy limb-girdle autosomal recessive
type 2D
muscular dystrophy limb-girdle autosomal recessive
type 2G
myeloperoxidase deficiency
Genus Clinical Database
autosomal recessive
myopathy, malignant hyperpyrexia, short
stature, scoliosis, cryptorchidism,
dysmorphic face, other clinical findings.
present at birth; asymptomatic white
folded soft hyperplastic lesions,
involving oral/vaginal/anal other
mucosae, often mistaked for leukoplakia.
occipital encephalocele, microcephaly,
Potter-like facies, oral-oculo-neural
defects, kidneys/liver cysts, polydactyly,
ambiguous genitalia, single umbilical
artery, spleen acessory, other
anomalies; occasionally Horner
syndrome.
childhood/juvenile onset; recurrent
episodes of fever, abdominal/chest pain,
peritonitis, pleuritis, associated fingings,
occasionally suggesting acute
polyarthritis.
milder form of Sanfilippo syndrome due
to N-acetyl-alpha -D-glucosaminidase
deficiency.
low birth weight-lenght, triangular face,
prominent forehead, hypotonia,
hepatomegaly, pericardial constriction,
yellow pigmentated fundi, other defects.
Bibliography[OMIM]:
145600
154275
145650
144200
Hum.Molec.Genet.4,18
75-1881,1995
600962
145600
193900
249000
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 184
249100
252920
253250
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 100
253600
second decade onset; hip/shoulder
proximal muscles weakness, difficulty
climbing, stairs/holding hands above
head, low back pain, occasionally
cardiomyopathy/pseudohypertrophy/high
serum creatine kinase levels.
600119
Duchenne-like muscular dystrophy.
New
Engl.J.Med.334,362366,1996
juvenile onset; progressive difficulty in
601954
walking and running, muscle wasting of Am.J.Hum.Genet.61,1
the upper and lower limbs.
51-159,1997
254600
recurrent infections, disseminated
candidiasis, due to defect of the
lysosomal enzyme myoloperoxidase in
neutrophils and monocytes.
chromosome 17q localization
75 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
neuritis brachial plexus
autosomal dominant
childhood onset; unilaterally, shouldergirdle muscle recurrent attacks of
weakness, preceded by pain, followed
by amyotrophy; characteristic focal
thickening of myelin, occasionally other
associated anomalies.
162100
neurofibromatosis 1
autosomal dominant
genomic imprinting
FDIäDX ODLW VSWVD[LOODU\ IUHFNOLQJ DW
162200
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 508
osteogenesis imperfecta III
autosomal recessive
genetic heterogeneity
supposed autosomal dominant
osteogenesis imperfecta IVA
autosomal dominant
osteogenesis imperfecta IVB
autosomal dominant
osteogenesis imperfecta lethal
IIA
autosomal dominant
autosomal recessive
genetic heterogeneity
supposed germinal mosaicism
osteogenesis imperfecta lethal
IIB
autosomal dominant
autosomal recessive
genetic heterogeneity
supposed germinal mosaicism
osteogenesis imperfecta lethal
IIC
autosomal dominant
autosomal recessive
genetic heterogeneity
autosomal dominant
osteogenesis imperfecta tarda
blue sclerae
osteoporosis senile
supposed autosomal dominant
pachyonychia congenita
Jackson-Lawler type
genetic heterogeneity
supposed autosomal dominant
supposed autosomal recessive
pachyonychia congenita
genetic heterogeneity
Jadassohn-Levwandowsky type supposed autosomal dominant
supposed autosomal recessive
paralysis periodic hyperkalemic autosomal dominant
Genus Clinical Database
birth, late neurofibromas, optic glioma,
segmental hypertrophy, iris Lisch
nodules, primary glaucoma, skeletal
changes, other oculo-neuro-visceral
involvement. Potentially maternal
imprinting.
short stature, progressive deformity,
bluish sclerae at birth, but less blue with
age, cardiorespiratory failure, clinical
variability from perinatal death to little
morbidity.
bluish sclerae at birth, progressively less
blue with age; normal teeth; deafness,
other clinical data characteristic of
osteogenesis imperfecta.
clinical variability, bluish sclerae at birth,
less blue with age; dentinogenesis
imperfectas; fractures, usually in the
newborn period onset, other clinical data
characteristic of osteogenesis
imperfecta.
extreme bone fragility, intrauterine
fractures, broad crupled femora,
continuous rib beading, marked
reduction in collagen I synthesis.
extreme bone fragility, intrauterine
fractures, broad crumpled femora with
minimal or no rib fractures; other clinical
data characteristic of osteogenesis
imperfecta.
extreme bone fragility, intrauterine
fractures, thin femora, thin ribs.
multiple bone fractures, blue sclerae,
other ocular defects, opalescent teeth,
deafness; arterial rupture/dissection.
reduced bone mass mainly in the
femoral neck and lumbar spine.
milia, neonatal teeth, very thickened
nails, subcutaneous infected cysts,
corneal dystrophy.
nail bed hypertrophy, red/yellow horn
nails, skin/oral mucous lesions,
hypodontia, short stature, mental
retardation, ocular defects, intestinal
diverticuli.
childhood onset; periodic attacks of
weakness, lasting 30-60 minutes,
occasionally myotonic symptoms, eyelid
myotonia, elevated serum potassium
during attaks.
chromosome 17q localization
Bibliography[OMIM]:
259420
166220
166220
166210
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 490
J.Med.Genet.31(12),96
5-968,1994
Prenat.Diagn.17(6),55
9-570,1997
166210
166210
166200
166710
167210
167200
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 548
170500
76 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
paramyotonia congenita
autosomal dominant
pituitary dwarfism I
autosomal recessive
placental lactogen defect
autosomal dominant
pseudohermaphroditism malegynecomastia
autosomal recessive
pseudohypoaldosteronism II
recessive type
autosomal recessive
psoriasis vulgaris
infancy onset; myotonia aggravated by
cold or repeated muscle contractions,
involving facial/lingual/hand; muscles
attacks of flaccid weakness after
exercise/cold exposure; high serum
potassium levels during attacks.
normal birth length, proportionate
dwarfism, first year of age onset,
excessive subcutaneous adipose tissue,
soft wrinkled skin, round doll-like facies;
high-pitched voice, hypoglycemic
episodes, delayed sexual development.
usually asymptomatic defect of human
placental lactogen.
males 46,XY, with ambiguous
genitalia/sex reversal at birth, and
normal masculinization at puberty,
cryptorchidism, carcinoma tendency in
cryptorchid testes.
signs of a salt-wasting syndrome,
without renal/adrenal disease, failure to
thrive, anorexia, vomiting, dehydration,
lethargy, collapse. Salt wasting due to
target multiple organ unresponsiveness
to mineral corticoids.
erythematous scaling plaques, usually
on elbows, kneees, scalp; arthritis,
dystrophic nails. Potentially paternal
imprinting.
Refetoff syndrome
autosomal dominant
genetic heterogeneity
genomic imprinting
multifactorial
autosomal recessive
renal tubular acidosis I
autosomal dominant
retinitis pigmentosa-17
autosomal dominant
Russell-Silver syndrome
Bibliography[OMIM]:
168300
262400
150200
264300
Nature Genet.16,202205,1997
601844
177900
goiter, deafmutism, stippled epiphyses.
274300
nephrocalcinosis, acidosis,
hypocalcemia, osteomalacia.
autosomal dominant retinitis
pigmentosa. Eye idolated anomaly.
179800
autosomal dominant
genetic heterogeneity
genomic imprinting
low birth weight, skeletal asymmetry,
short stature, triangular facies,
Sjogren-Larsson syndrome
autosomal recessive
symphalangism proximal
autosomal dominant
Thomsen disease
autosomal dominant
thyroid hormone resistance
autosomal dominant
van Buchem syndrome
autosomal recessive
Wilhelmsen-Lynch disease
autosomal dominant
congenital ichthyosiform dermatitis,
mental retardation, symmetric spastic
diplegic or quadriplegic type,
chorioretinal lesions, "glistening dots" in
the fovea.
proximal interphalangeal joints
ankylosis, with carpal/tarsal bones
fusion; conductive deafness.
infancy onset without clinical
progression, percussion myotonia in
hands/legs/eyelids, cold aggravating
factor; occasionally, muscular
hypertrophy.
goiter, without thyrotoxicosis, serum free
thyroid hormone high levels, normal
TSH.
mandibular prominence; thichening chin,
base skull, clavicle and diaphyseal
cortex, occasionally ocular defects.
adult onset; dementia, parkinsonism,
behavioral changes, amyotrophy,
frontotemporal atrophy
180860
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 96
270200
Genus Clinical Database
FOLQRGDFW\O\ V\QGDFW\O\ FDIäDXODLW
spots.
chromosome 17q localization
Hum.Mol.Genet.4,145
9-1462,1995
600852
185800
160800
188570
239100
Am.J.Hum.Genet.55,1
159-1165,1994
600274
77 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Wilms tumor IV
autosomal dominant
Wszolek syndrome
autosomal dominant
2-12 years average age of onset. Fixed
abdominal mass in an upper quadrant,
hematuria, hypertension, fever,
abdominal pain.
progressive parkinsonism, distonia,
dementia, gliosis.
Bibliography[OMIM]:
Nature Genet. 13,461463,1996
601363
168610
chromosome 18 localization
antiplasmin deficiency
autosomal recessive
hemorrhagic diathesis due to PLI defect. 262850
chromosome 18p localization
leiomyomatosis cutis
autosomal dominant
manic-depressive psychosis 1
autosomal dominant
multifactorial
Migeon syndrome
autosomal recessive
genetic heterogeneity
supposed X-linked recessive
autosomal dominant
genetic heterogeneity
myopia autosomal dominant 1
150800
adenoides cysticum, increasing
translucent papules/nodules mainly on
the face consisting of horn cysts and
basalioma-like cells; isolated/multiple
cutaneous leiomyomata, arising from the
pilar arrector muscles of the skin, in
nodular/linear shape.
125480
elated/excited/irritable mood in manic
symptomatology; impaired thought
processes/disturbed thought, content
and perceptual processes/allucinations
in schizophrenic disorders.
202200
late infancy onset; skin/gums
hyperpigmentation, seizures due to
recurrent hypoglycemia, lethargy.
congenital/shortly after birth familial
myopia. Retinal detachment. Eye
isolated anomaly.
160700
lower limb neuropathy,
diarrhea/constipation, sexual impotence,
reduced vision, corneal clouding, renal
failure, orthostatic hypotension.
carpal tunnel syndrome, peripheral
neuropathy, cardiomyopathy, vitreous
deposists, orthostatic hypotension.
progressive heart failure constrictive
type, right-ventricular pressure curves,
orthostatic hypotension, onset about age
40.
neuropathy, diarrhea, impotence,
vitreous deposits, amyloid deposits in all
major organs.
onset age 50, lower limb neuropathy,
intermittent diarrhea, renal failure.
senile systemic amyloidosis involving
lungs, liver, heart, kidneys, brain, other
structures; orthostatic hypotension,
peripheral neuropathy in late decades,
progressive sensory/motor loss, corneal
clouding, cutaneous/visceral
involvement.
176300
chromosome 18q localization
amyloid neuropathy I
autosomal dominant
amyloid neuropathy II
autosomal dominant
amyloid neuropathy III
autosomal dominant
amyloid neuropathy V
supposed autosomal dominant
amyloid neuropathy Wallace
autosomal dominant
amyloidosis senile systemic
autosomal dominant
amyloidosis Swedish type
supposed autosomal dominant
Genus Clinical Database
chromosome 18q localization
176300
176300
B.D.Encyclopedia
2880 p.100
B.D.Encyclopedia
2882 p.106
176300
105270
78 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
amyloidosis VII
autosomal dominant
carnosinemia
autosomal recessive
cholestasis intrahepatic
recurrent
supposed autosomal recessive
cholestasis progressive
familial intrahepatic 1
autosomal recessive
colorectal cancer-related
chromosome sequence-18
autosomal dominant
episodic neurologic dysfunction
resembling cortical ischemia, dementia,
seizures, strokes, coma, visual
impairment, vitreous opacities, ocular
strucures involvement including
choroidoretinal changes.
occasionally mental retardation,
myoclonic seizures.
repeated attacks of jaundice, itching,
hepatomegaly, pruritus, other
complications, first years of life onset.
severe form of cholestasis intrahepatic,
dwarfism, foul-smelling stools, attacks of
jaundice related to infections,
hepatosplenomegaly, low
cholesterolemia.
colorectal carcinomas related to loss of
chromosome 18q sequences.
colorectal familial cancer
Lynch II
autosomal dominant
cone-rod retinal dystrophy-1
autosomal dominant
diabetes mellitus insulindependent 6
autosomal dominant
diabetes mellitus, insulin dependent.
epidermolysis bullosa
atrophicans Herlitz-Pearson
type
autosomal recessive
congenital ulcerations/erosions,
congenital hands/feet blisters sparing
later; hemidesmosome defects.
factor V-VIII combined
deficiency
autosomal recessive
hyperbradykininism
autosomal dominant
congenital hemorrhagic disorder due to
combined deficiency of factor V and
factor VIII.
orthostatic hypotension, syncope,
erythema, ecchymoses.
King-Denborough syndrome
autosomal dominant
genetic heterogeneity
leukemia chronic lymphatic 2
supposed multifactorial
undefinable
methemoglobinemiacytochrome b5 deficiency
autosomal recessive
Niemann-Pick C
autosomal recessive
Niemann-Pick D-E
autosomal recessive
osteolysis expansile familial
autosomal dominant
Genus Clinical Database
colonic cancer in association with other
familial carcinomas, such as
endometrium/ovary/pancreas. May be
the same of Lynch I.
childhood onset; diminished central
vision, altered color vision, mental
retardation, hypogenitalism.
Bibliography[OMIM]:
105210
212200
243300
211600
120470
190020
116806
114400
116806
Am.J.Med.Genet.39,28
8-293,1991
600624
Hum.Molec.Genet.6,10
03-1010,1997
601941
226700
600805
Prenat.Diagn.17,343354,1997
227300
143850
Lancet II,10481053,1972
myopathy, malignant hyperpyrexia, short 145600
stature, scoliosis, cryptorchidism,
dysmorphic face, other clinical findings.
151430
chronic lymphocytic leukemia, with
relatively immature B-cells in the bone,
peripheral lymphocytosis,
lymphoadenopathy, splenomegaly,
marrow/lymph nodes/spleen
involvement.
250790
cyanosis, congenital
methemoglobinemia due to cytochrome
b5 deficiency.
hepatosplenomegaly, chronic neurologic 257220
deterioration, cherry red macular
changes.
257250
adult type of N.P., with
hepatosplenomegaly, neurologic
deterioration, cherry red macular
changes.
juvenile onset; peripheral distribution of 174810
focal skeletal changes characterized by
resorption, medullary expansion, painful,
deformity, fractures; frequent deafness,
loss of dentition.
chromosome 18q localization
79 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Bibliography[OMIM]:
polyposis coli juvenile
autosomal dominant
protoporphyria erythropoietic
autosomal dominant
sclerosis multiple
multifactorial
supposed autosomal dominant
Tourette disease
genetic heterogeneity
supposed autosomal dominant
supposed X-linked recessive
174900
rectal bleeding, polyp prolapse,
abdominal pain, diarrhea, due to isolated 600993
or multiple intestinal/frequently colonic
Science 280,1086polyps, risks for malignant degeneration.
1088,1998
177000
usually infancy onset; photosensitivity,
skin lesions on exposure to sunlight,
liver disease, jaundice, hepatic failure.
126200
motor/sensory problems, optic neuritis,
vertigo, diplopia, bladder/bowel
disturbances.
disorder affecting speech, learning,
137580
behaviour; multiple motor and vocal tics,
throat, clearing, sniffing, sucking,
inappropriate words /phrases, including
coprolalia.
chromosome 19 localization
glutaricaciduria IIA
autosomal recessive
mitochondrial
mannosidosis
autosomal recessive
variable age onset; hypotonia, visceral
fatty degeneration, lethargy, coma,
sudden death. Mild and severe cases
occurring.
coarse facies, mental retardation,
hepatosplenomegaly, infections,
deafness, cataract, skeletal dysplasia.
231680
diabetes insulin-resistance type,
choroidoretinal defects, acanthosis
nigricans, severe muscle cramps, large
hands, enlarged kidneys.
diabetes insulin-resistance type,
choroidoretinal defects, acanthosis
nigricans.
episodic attacks of vertigo, diplopia,
ataxia, early adulthood onset.
200170
248500
chromosome 19p localization
acanthosis nigricans Flier type
supposed autosomal recessive
acanthosis nigricans-diabetes
autosomal dominant
ataxia periodic
vestibulocerebellar
autosomal dominant
atherosclerosis susceptibility
autosomal dominant
Bare lymphocyte syndrome
autosomal recessive
cerebellar ataxia Cayman type
autosomal recessive
complement component C3
autosomal dominant
exostoses multiple
cartilagineous type I
autosomal dominant
exostoses multiple type III
autosomal dominant
Genus Clinical Database
147670
108500
high risk for myocadial infarctions; high
LDL and low HDL.
Defective expression of class I-II MHC
molecules. Severe persistent bacterial
infections, diarrhoea/malabsorption,
mucocutaneous candidiasis, panhypogammaglobulinemia with normal
number of T and B lymphocytes,
defective expression of HLA class I/II
moleccules.
ataxia, nystagmus, dysarthria, mental
retardation.
108725
glomerulonephritis, recurrent infectionspyogenic, lupus systemic.
mild short stature, bone deformity due to
numerous asymmetric cartilage-capped
exostoses, with characteristic clubshaped appearance, usually in the
tubular bones actively growing areas,
such as juxtaepiphyseal areas;
malignant degeneration may occur.
asymmetric cartilage-capped exostoses;
malignant degeneration may occur.
120700
chromosome 19p localization
209920
601863
Hum.Mol.Genet.5,525531,1996
601238
133700
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 436
Hum.Molec.Genet.3,71
7-722,1994
600209
80 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
fucosyltransferase 3
autosomal dominant
fucosyltransferase 5
autosomal dominant
fucosyltransferase 6
autosomal dominant
glutaricacidemia I
autosomal recessive
hypercalcemia benign type II
autosomal dominant
hypercholesterolemia
autosomal dominant
hypercholesterolemia type B
supposed autosomal dominant
leprechaunism syndrome
autosomal recessive
leukemia lymphoid 1
sporadic
undefinable
Peutz-Jeghers syndrome
autosomal dominant
pseudoachondroplasia III
autosomal dominant
pseudohermaphroditism male
internal
autosomal recessive
Rabson-Mendenhall syndrome
autosomal recessive
spinocerebellar ataxia 6
autosomal dominant
locus linkage to blood group-Lewis
system.
plasma type of alpha-3fucosyltransferase.
gene encoding alpha(1,3)fucosyltransferase activity.
first months of age onset; opisthotonus,
dystonic cerebral palsy, athetosis.
easy fatiguability, mild muscle
weakness, unconstant other
disturbances such as chondrocalcinosis,
lipomas, pancratitis, nophrolithiasis,
peptic ulcer.
tuberous/tendon xanthomas,
xanthelasmas, premature coronary
disease.
tuberous/tendon xanthomas,
xanthelasmas, premature coronary
disease.
severe dystrophy, low birth weight, elfin
face, mental retardation, failure to thrive,
prominence clitoris/penis/ears/hands
and feet, hypoglycemia, severe insulin
resistance, visceral anoamlies;
occasionally Horner syndrome.
acute lymphoblastic leukemia with
typical nucleotide sequence analysis in
a t(7;19) chromosomal translocation.
infancy onset; abnormal mucocutaneous
pigmentation, pigmented spots on the
lips and buccal mucosa, multiple
gastrointestinal hamartomatous, polyps
intestinal, obstruction, gastrointestinal
cancer.
spondyloepiphyseal dysplasia with
clinical-radiological features of
pseudoachondroplasia, cytoplasmic
metachromasia, characteristic changes
in chondrocytes.
normal external genitalia and testes in
males 46, XY, with uterus and falloppian
tubes, prolapsing into inguinal hernia;
cancer tendency in cryptorchid testes.
onset at birth or shortly thereafter;
hyperpigmentation, hirsutism, followed
by acanthosis nigricans; premature,
supernumerary dentition; coarse/senile
appearing facies, enlarged genitalia,
thick nails, diabetes, pineal hyperplasia,
other anomalies.
juvenile onset of progressive cerebellar
ataxia; occasionally dementia.
Stein-Leventhal syndrome
sex-limited, sex influence
supposed autosomal dominant
thyroid hormonogenesis defect autosomal recessive
I
Wegener granulomatosis
autoantigen
sporadic
obesity, irsutism, amenorrhea, bilateral
enlarged ovaries, normal urinary
ketosteroids.
congenital hypothyroidism,
mental/growth/skeletal retardation, dry
skin, cretinoid facies.
vasculitis, capillaritis, severe renal
dysfunction, pulmonary hemorrhage.
Bibliography[OMIM]:
111100
136835
136836
231670
145981
143890
144010
246200
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 600
151440
175200
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 520
177170
261550
600957
262190
183086
601011
184700
274400
177020
chromosome 19q localization
Genus Clinical Database
chromosome 19q localization
81 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Alzheimer disease late onset dementia.
Potentially paternal imprinting.
104310
Bannayan-Zonana syndrome
autosomal dominant
genomic imprinting
multifactorial
autosomal dominant
153480
Natur.Genet.16,333334,1997
brain-bone-fat disease
autosomal recessive
bundle branch block
autosomal dominant
genetic heterogeneity
supposed autosomal recessive
autosomal dominant
high birth weight, normal bone age,
megalencephaly, hamartomas,
macrosomia, multiple lipomas. Germline mutation of PTEN.
third decade of life onset, wrist/ankle
pain and swelling, fractures, epiphyseal
cystic rarefactions conteining jelly-like
material, progressive dementia
resembling Alzheimer disease.
arrythmias, extrasystoles, StokesAdams attacks, ECG similar to WPW
syndrome.
early onset bilateral cataract associated
with asymptomatic hyperferritinemia.
Eye isolated anomaly.
Nature Genet.11,444446,1995
600886
258840
Alzheimer type 2
cataract-hyperferritinemia
Clayton Smith-Donnai syndrome autosomal recessive
cone-rod retinal dystrophy-2
autosomal dominant
convulsion benign infantile
autosomal dominant
cystinuria III
autosomal recessive
deafness neurosensory
autosomal dominant-4
autosomal dominant
dementia multi-infarcts type
supposed autosomal dominant
Diamond-Blackfan disease
recessive
genetic heterogeneity
supposed autosomal dominant
supposed autosomal recessive
epiphyseal dysplasia multiple 1 autosomal dominant
genetic heterogeneity
fucosyltransferase 1 deficiency
autosomal recessive
fucosyltransferase 2
autosomal dominant
glucosephosphate isomerase
deficiency
autosomal dominant
hyperlipoproteinemia IB
autosomal recessive
hyperlipoproteinemia III
supposed autosomal dominant
Genus Clinical Database
low birth weight, dysmorphic face,
prominent ear crus, digits/toes in fixed
flexion deformity, ichthyosis.
diminished central vision, altered color
vision. Eye isolated anomaly.
infantile onset of benign convulsion.
clinical data similar to cystinuria I;
cystine urinary tract stones. Moderate
hyperexcretion of cysteine and bibasic
amino acidis in heterozygotes.
second decade of onset; sensorineural
deafness.
Bibliography[OMIM]:
221770
113900
120970
Europ:J:Pediat.151,60
8-612,1992
601764
Am.J.Hum.Genet.60,6
11-616,1997
600918
Hum.Molec.Genet.4,10
73-1076,1995
600652
occlusive cerebrovascular infarcts in the
white matter and dementia.
hypoplastic macrocytic anemia/ aplastic
anemia, without associated propensity
for leukemia.
125310
severe hip osteoarthritis, distal tibial
ossification defects, short stature,
brachydactyly.
red cell surface lacking H-antigen ;
presence of anti-H, anti-A, anti-B in the
serum.
locus linkage to Lutheran blood group
and myotonic dystrophy.
neonatal/early childhood onset; chronic
nonspherocytic hemolytic anemia,
mental retardation, sensory ataxia.
periodic attacks of abdominal
pain/colic/vomiting,
hepatosplenomegaly, eruptive
xanthomas, without premature vascular
disease.
high cholesterol/triglyceride levels,
xanthoma striata palmaris,
coronary/vascular disturbance, ocular
defects, tuberous xanthomata.
132400
chromosome 19q localization
205900
211100
182100
172400
207750
107741
82 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
hyperthermia malignant
autosomal dominant
genomic imprinting
King-Denborough syndrome
autosomal dominant
genetic heterogeneity
leukocyte adhesion deficiency
type II
supposed autosomal recessive
maple syrup urine disease 1
autosomal recessive
methylglutaconicaciduria III
supposed autosomal recessive
migraine-hemiplegia
supposed autosomal dominant
myopathy central core type
autosomal dominant
myotonic dystrophy neonatal
form
autosomal dominant
nephrosis congenita Finnish
type
autosomal recessive
Potentially lethal pharmacogenetic
disease. Masseter spasm, arrythmia,
muscle rigidity, metabolic acidosis,
rhabdomyolisis, myoglobinuria,
intravascular coagulation, hyperthermia
during or shortly after general
anesthesia. Caffeine-hallothane
contracture test ansthesia. Maternal
imprinting.
myopathy, malignant hyperpyrexia, short
stature, scoliosis, cryptorchidism,
dysmorphic face, other clinical findings.
mental retardation, short stature, coarse
facial appearance, recurrent infections,
leukocyte adhesion defect, Bombay
phenotype, leukemoid reactions.
vomiting, lethargy, convulsions,
acidosis, hypoglycemia, typical maple
syrup-like odor in urine and other
secretions, acidosis, hypoglycemia, due
to E-1 alpha subunit deficiency.
infantile optic atrophy, early onset
choreic movements, mild ataxia,
occasionally spastic paraparesis.
attacks of hemicranial pain,
hemiparesis, occasionally retinal
degeneration, nystagmus, deafness,
other clinical findings.
onset at birth/shortly after birth;
weakness, hypotonia, slow motor
milestones, hip dislocations,
kyphoscoliosis, features of "floppy
infant".
severe, congenital muscular hypotonia,
facial diplegia, ptosis; severe respiratory
insufficiency. Transmitted by mildly
affected mothers. Potentially maternal
imprinting.
congenital edema, hypoproteinemia,
proteinuria, abdominal distension,
respiratory distress, renal failure,
infections, electrolyte imbalance, cystic
dilatation of proximal tubules.
orofacial cleft 3
genomic imprinting
multifactorial
ovarian tumor
autosomal dominant
poliovirus susceptibility
no genetic
supposed multifactorial
prolidase deficiency
supposed autosomal recessive
Genus Clinical Database
Bibliography[OMIM]:
145600
145600
266265
248600
258501
141500
117000
Wiedemann H.R.Kunze J.: Clinical
syndromes 1997
pag.588
256300
Prenat.Diagn.19,489,1
999
Prenat.Diagn. 21,8184,2001
complete or incomplete clefts of the
Am.J.Hum.Genet.
upper lip, unilateral or bilateral, including 57,257-272,1995
posterior alveolar processes, and
600757
anteriorly alae nasi. Potentially paternal
imprinting.
167000
familial ovarian tumors,
dysgerminomas/cancer, papillary
601404
adenocarcinoma.
192090
173850
susceptibility to poliovirus infections,
symptoms of aseptic miningitis, followed
by paralysis due to spinal/bulbar
poliomyelitis.
juvenile onset; lower extremities multiple 264130
recurrent ulcers, telangiectasias, other
170100
dermatologic lesions, photosensitivity,
mild mental retardation, recurrent
infections, other associated findings.
chromosome 19q localization
83 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
pseudoachondroplasia I
autosomal dominant
genetic heterogeneity
pseudohermaphroditism male
LH molecule defect
autosomal dominant
retinitis pigmentosa-11
autosomal dominant
normal-appearing at birth, two years of
age onset; normal skull and face,
disproportionate short stature, shortbowed limbs, lumbar lordosis, knockknees, short hand/foot, characteristic Xrays features.
ambiguous external genitalia resembling
a female type with 46,XY karyotype, due
to secretion of an abnormal LH molecule.
autosomal dominant retinitis
pigmentosa.Eye isolated anomaly.
sclerosis multiple
multifactorial
supposed autosomal dominant
Steinert disease
autosomal dominant
genomic imprinting
warfarin resistance
autosomal dominant
xeroderma pigmentosum IV/VIII autosomal recessive
motor/sensory problems, optic neuritis,
vertigo, diplopia, bladder/bowel
disturbances.
weakness, facial/oropharyngeal/distal
muscles, expressionless facies,
myotonia, cataract, ptosis, other ocular
defects, testicular atrophy, mild mental
retardation. Potentially maternal
imprinting. Linkege to FUT2 gene.
congenital resistance to
hypoptothrombinemic effects of
coumarin drugs.
xeroderma pigmentosum of
complementation group D, linkage with
trichothiodystrophy; xeroderma
pigmentosum of complementation group
H, linkage with Cockayne syndrome.
Occasionally ocular changes. UVinduced skin tumors.
Bibliography[OMIM]:
177150
152780
180104
600138
126200
160900
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 216
122700
278730
chromosome 20 localization
corneal dystrophy polymorfous autosomal dominant
posterior
corneal endothelial dystrophy 1 autosomal dominant
genetic heterogeneity
Holt-Oram syndrome
autosomal dominant
Very early onset, may be present at
birth. Irregular, broken sheetlike
opacities and vacuoles in the posterior
parts of the cornea. Eye isolated
anomaly.
endothelial type of congenital corneal
dystrophy. Eye isolated anomaly.
122000
Genetic Diseases of
the Eye. Ed. Elias I.
Traboulsi 1998 p.242
thumb anomaly, atrial septal defect,
other cardiac/limb defects.
142900
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 316
118450
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 586
105150
176640
121700
chromosome 20p localization
Alagille syndrome
autosomal dominant
supposed contiguous genes
cholestasis intrahepatic, peripheral
pulmonary artery stenosis, triangular
shaped facies, anomalies of the anterior
chamber of the eye, choroidoretinal
defects, ocular cyst, nephronophthisis.
amyloid neuropathy VIa
autosomal dominant
Creutzfeldt-Jacob syndrome
autosomal dominant
recurring cerebral hemorrhage,
sometimes preceded by migrainous
headaches or mental changes,
thickening of the cerebral arteries.
middle age insidious onset, with various
physical and behavioral symptoms,
followed by progressive dementia,
myoclonus, pyramidal/extrapyramidal
signs, heightened startle reaction,
cerebral atrophy, cortical blindness.
Genus Clinical Database
chromosome 20p localization
123400
176640
84 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Bibliography[OMIM]:
diabetes insipidus
neurohypophyseal type
genetic heterogeneity
supposed autosomal dominant
X-linked recessive
Gerstmann-StrausslerScheinker syndrome
supposed autosomal dominant
Huntington-like
neurodegenerative disorder
autosomal dominant
Kaufman-McKusick syndrome
autosomal recessive
125700
polydipsia, polyuria, low urine
osmolarity, growth retardation, mental
304900
retardation due to dehydration,
responsivity to vasopressin.
137440
middle age onset, cerebellar ataxia,
dysarthria, incoordination, bradykinesia, 176640
nystagmus, progressive dementia,
characteristic CNS amyloid plaques.
progressive choreic movements, usually Am.J.hum.Genet.63,1
30-40 years onset, dementia, appearing 431-1438,1998
indipendently of the movements
disorders, first manifestations may be
paranoia, emotional instability. No
mutation in 4p16.3 chromosome.
236700
hydrometrocolpos, due to transverse
vaginal membrane inducing
accumulation of secretions caused by
vaginal obstruction, postaxial
polydactyly, congenital heart disease.
chromosome 20q localization
adenosine deaminase
deficiency
autosomal recessive
severe recurrent infections, failure to
thrive, intestinal malabsorption.
102700
Albright osteodystrophy-1
autosomal dominant
autosomal recessive
genetic heterogeneity
genomic imprinting
sex-limited, sex influence
supposed X-linked dominant
103580
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 446
Albright osteodystrophy-1
supposed autosomal dominant
supposed early somatic
mutation/gametic half-chromatid
mutation
short stature, obesity, round face,
brachydactyly, fourth/fifth short
matacarpals, absent 4th knuckles,
ectopic calcification/ossification, mental
retardation, cataract, iridal changes,
hypocalcemia, parathyroid hyperplasia,
high PTH levels.Potentially maaternal
imprinting.
pseudocystic skeletal lesions, sclerotic
convulsions benign neonatal
diabetes mellitus II noninsulindependent
autosomal dominant
genetic heterogeneity
supposed autosomal recessive
autosomal dominant
diabetes mellitus noninsulindependent mild juvenile
autosomal dominant
dyserythropoietic anemia II
supposed autosomal recessive
Fanconi pancytopenia type 1
autosomal recessive
VNXOO IUDFWXUHV FDIäDXODLW VSRWV
precocious puberty with advanced
skeletal maturation, ocular defects.
neonatal convulsions that cleared
spontaneously after a few weeks, in
healthy, neurologically normal infant.
late onset diabetes. Polyuria, polydipsia,
unexplained weight loss, fatigue,
obesity, microvascular complications,
including neuropathy, nephropathy,
retinopathy, myocardiopathy, alterations
in insulin behaviour.
juvenile onset, correction of fasting
hyperglycemia without insulin, usually
without ketosis, without obesity.
mild to severe anemia, jaundice,
hepatosplenomegaly, peripheral
hemolysis, inffective erythropoiesis,
hemochromatosis.
low birth weight, anemia,
WKURPERF\WRSHQLD FDIäDXODLW VSRWV
thumb defect/ supernumeray, renal
anomalies, chromosomal breakage.
Fanconi pancytopenia type 2
autosomal recessive
galactosialidosis infantile late
type
autosomal recessive
Genus Clinical Database
Fanconi syndrome due to a separate
locus different from type 1.
dwarfism, gargoyle face, mental
retardation, seizures, corneal clouding,
macular cherry red spot, dysostosis
multiplex, deafness.
chromosome 20q localization
174800
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 510
121200
125853
601283
125850
224100
227650
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 320
227660
256540
85 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
galactosialidosis juvenile type
autosomal recessive
Grebe syndrome
autosomal recessive
skeletal dysplasia, joint stiffness, coarse
dysmorphic facies, corneal clouding,
cherry red spots, mental retardation,
deafness.
marked deformed hypomelia,
progressive shortness from proximal to
distal segments, extremely small
digits/toes, postaxial polydactyly, obesity.
phosphoenolpyruvate
carboxykinase 1 deficiency
autosomal recessive
visceral massive fatty deposition, liver
impairment, hypoglycemia, lethargy.
pyroglutamicaciduria
autosomal recessive
Waardenburg I syndrome
autosomal dominant
mental retardation, ataxia, other
neurological dysfunctions, chronic
metabolic acidosis, jaundice at birth,
hemolytic anemia, vomiting, thrombosis
tendency.
deafness, dystopia canthorum, broad
nasal bridge, synophrys, heterochromia
irides, other ocular defects, white
forelock, skin depigmentation.
Bibliography[OMIM]:
256540
200700
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 300
261680
266130
601002
193500
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 248
chromosome 21q localization
acute myeloid leukemia 1
Alzheimer type 1
amyloidosis VIb
acute myeloid leukemia; frequent
t(8;21)(q22q22).
autosomal dominant
genomic imprinting
multifactorial
supposed mitochondrial
autosomal dominant
amyotrophic lateral sclerosis
adult type
autosomal dominant
breast cancer estrogeninducible sequence
autosomal dominant
carboxylase multiple deficiency autosomal recessive
neonatal form
cardioauditory syndrome
autosomal recessive
complement component C3
autosomal dominant
deafness neurosensory
autosomal recessive-10
autosomal recessive
deafness neurosensory
autosomal recessive-8
autosomal recessive
Genus Clinical Database
dementia with onset before or after age
65. Potentially paternal imprinting.
peculiar cerebral amyloid protein similar
to those described in Alzheimer disease
and Down syndrome.
adult onset; progressive weakness,
wasting,
fasciculations,spinal/cranial/bulbar
involvement, sleep apnea.
breast cancer with BCEI gene located at
21q22.3 which codes for a small
secreted protein.
neonatal onset; severe lactic acidosis,
alopecia, keratoconjunctivitis, perioral
erosions, seizures, reversed by biotin.
602439
151385
Genomics 14,506507,0992
Blood 87,52185224,1996
104300
104760
105400
113710
253270
Prenat.Diagn.19,108112,1999
220400
prolongation of the Q-T interval,
ventricular arrhythmia, loss of
consciousness, deafness, sudden death.
glomerulonephritis, recurrent infections- 120700
pyogenic, lupus systemic.
Am.J.Hum.Genet.58,1
autosomal recessive hearing loss.
254-1259,1996
601072
childhood onset neurosensory deafness. Am.J.Hum.Genet.58,1
254-1259,1996
601072
chromosome 21q localization
86 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Dowton disease
autosomal dominant
enteropeptidase deficiency
autosomal recessive
holoprosencephaly 1
genetic heterogeneity
undefinable
bleeding tendency due to
thrombocytopenia, defect in platelet
aggregation, different from any known
thrombopenic/thrombopathic disease;
tendency to tumors, acute myelogenous
leukemia.
diarrhea, failure to thrive, early infancy
onset, hypoproteinemia, edema.
mid cranial-face defects, single
ventricle, hypotelorism, median cleft,
single nostril-nose, occasionally other
associated anomalies.
homocystinuria
autosomal recessive
downward lens dyslocation, marfanoid
habitus, thromboembolic events,
cataract, other ocular defects, moderate
mental retardation.
Knobloch-Layer syndrome
supposed autosomal recessive
leukocyte adhesion deficiency
type 1
autosomal dominant
muscular dystrophy benign
congenital
supposed autosomal dominant
myeloproliferative syndrome
transient
chromosomic
supposed autosomal dominant
myoclonus-epilepsy Baltic type
autosomal recessive
high myopia, vitreoretinal degeneration,
retinal detachment, occipital
encephalocele.
Defective cell-cell interaction. Recurrent
severe bacterial/viral/fungal infections
with little pus formation, delayed
umbilical cord separation, leukocytosis,
characteristic leukocyte dysfunction.
early childhood onset; slow progression,
involving proximal limb muscles,
sternocleidomastoid and anterior tibial
muscles, without cardiomyopathy; high
creatine kinase levels.
leukemoid reaction, usually in infants
with Down syndrome due to disomic
homozygosity.
childhood onset; progressive invalidity
from myoclonic features, mild mental
deterioration, emotional lability.
polyglandular autoimmune
syndrome I
autosomal recessive
thrombocytemia essential
supposed autosomal dominant
Usher IE syndrome
autosomal recessive
Bibliography[OMIM]:
173420
601399
226200
236100
601475
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 605
Prenat.Diagn.20,400403,2000
236200
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 478
267750
116920
600065
158810
159595
254800
601145
602103
240300
childhood onset; chronic candidal
granulomatous infections of mucous
membrane, skin, nails;
parathyroid/adrenal/other hormones
deficiency, hepatitis, thymic dysplasia,
pernicious anemia, other anomalies.
thrombohemorrhagic manifestation, high 187950
levels of platelets, increased
megakaryocytes, sideroblastic anemia.
602097
congenital deafness, vestibular
dysfunction, retinitis pigmentosa.
Hum.Molec.Genet.6,27
-31, 1997
chromosome 22q localization
autism purine type
autosomal recessive
cataract cerulean type-2
autosomal dominant
Genus Clinical Database
autism, growth/psychomotor retardation, 103050
seizures, muscular wasting.
Prenat.Diagn.20,3336,2000
115660
peripheral bluish and white
opacificatons. Eye isolated anomaly.
601547
chromosome 22q localization
87 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
cat-eye syndrome
chromosomic
supposed autosomal dominant
eye colobomas, anal atresia,
preauricular appendages or fistulae,
mental retardation, heart defects, other
visceral/skeletal anomalies.
colorectal familial cancer
Lynch I
supposed autosomal dominant
undefinable
site-specific colonic cancer changes in
bowel habit, rectal bleeding, abdominal
pain, anemia, weight loss, onset before
40 years. May be the same of Lynch II.
Associated endometrial
carcinoma/atypical hyperplasia, uterine
leiomyosarcoma, renal/bladder
carrcinoma, gastric/biliary carcinoma.
conotruncal malformations including
truncus arteriosus communis, great
arteries transposition, other associated
cardiac anomalies. 22q11 del. Included
in CATCH 22 spectrum of malformations
(cardiac, abnormal face, thymic
hypoplasia, cleft palate,
hypocalccaemia, 22 chromosoma
deletion).
neonatal hypocalcemic tetany,
dysmorphic dysmorphic face, cardiac
defects, hypoparathyroidism, thymic
agenesis, cortical areas lymph nodes
depletion, infections susceptibility,
weackness, 22q11 del. Included in
CATCH 22 spectrum of malformations
(cardiac,, abnormal face, thymic
hypoplasia, cleft palate, hypocalcaemia,
22 chromosoma deletion).
dysphagia, stridorous cry, hoarse voice,
typical dysmorphism, hypertelorism,
prominent occiput, hypospadias, other
anomalies.
conotruncal heart malformation genetic heterogeneity
multifactorial
supposed autosomal recessive
DiGeorge 1 syndrome
contiguous genes
supposed autosomal dominant
G syndrome
autosomal dominant
glucose-galactose
malabsorption
autosomal recessive
glutathionuria
autosomal recessive
heart transposition great
vessels
multifactorial
neonatal onset; severe diarrhea,
dehydration, failure to thrive,
glucose/galactose in feces.
mental retardation, urinary/plasma high
glutathione concentration, normal
erithrocyte glutathione concentration.
congenital cyanosis, congestive heart
failure, right ventricular hypertrophy.
Occasionally 22q del.
thrombosis recurrent.
Bibliography[OMIM]:
115470
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag.68
114500
190020
116806
217095
Prenat.Diagn.18,507510,1998
188400
601362
Prenat.Diagn.18,507510,1998
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 616
145410
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 132
Am.J.Med.Genet.59(1)
,103-113,1995
182380
231950
B.D.Encyclopedia
0962 p.847
heparin cofactor II deficiency
autosomal dominant
Hirschprung-pigmentary
anomaly
supposed autosomal recessive
white eyebrows/forelock, isochromia
irides with mosaic pattern, intestinal
obstruction, microcolon, no deafness, no
dystopia canthorum.
hyperprolinemia I
autosomal recessive
leukemia chronic myeloid
undefinable
leukodystrophy metachromatic
late infantile type
autosomal recessive
asymptomatic, occasionally
nephropathy, photogenic epilepsy.
granulocytic leukocytosis in all stages of 151410
differentiation, bone marrow hyperplasia,
high platelet count, Philadelphia
chromosome, BCR/ABL hybrid gene,
splenomegaly, other clinical findings.
250100
central/peripheral nervous system
involvement, inability to walk, spasticity,
hypotony, no ataxia, ocular changes.
Genus Clinical Database
chromosome 22q localization
142360
277580
Nat.Genet.12(4),445447,1996
Nat.Genet.18(2),171173,1998
239500
88 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
megacolon
autosomal dominant
multifactorial
supposed genetic heterogeneity
meningioma
autosomal dominant
methemoglobinemia I
supposed autosomal recessive
methemoglobinemia II
supposed autosomal recessive
costipation leading to neonatal intestinal
obstruction or chronic
constipation/obstipation, abdominal
distention, deficiency/absence of
ganglion cells. Neuroblastoma tendency.
neurologic dysfunctions, due to relatively
benign tumor, involving meninges.
cyanosis without cardiac pulmonary
disease, enzymatic deficiency confined
to the erythrocytes.
congenital cyanosis, without
cardiac/pulmonary disease, severe
progressive encephalopathy,
microcephaly, mental retardation,
diaphorase deficiency involving several
tissues in addition to
erythrocytes/leukocytes/platelets.
severe hypotonia, myoclonic epilepsy,
arrest of development, gait disturbance,
ocular defects, dementia, decerebration,
diabetes insipidus.
bilateral acoustic neuromas,
neuroaxonal dystrophy infantile autosomal recessive
neurofibromatosis 2 syndrome
autosomal dominant
genomic imprinting
rhabdoid tumor
sarcoma Ewing
undefinable
Schindler syndrome
autosomal recessive
supposed genetic heterogeneity
schizophrenia-4
autosomal dominant
multifactorial
undefinable
Sorsby-Mason-Gardner
syndrome
autosomal dominant
genetic heterogeneity
autosomal dominant
thrombophilia due to heparin
cofactor II deficiency
transcobalamin II deficiency
autosomal recessive
velocardiofacial syndrome
autosomal dominant
supposed contiguous genes
Bibliography[OMIM]:
142623
156100
250800
250800
256600
101000
VSLQDOSDUDVSLQDO VLJQV FDIäDXODLW
spots, occasionally ocular anomalies.
Potentially maternal imprinting.
highly malignant group of tumors,
childhood onset, involving mainly the
kidney or the CNS.
childhood/adults onset; painful, swelling,
usually extremity bone destruction, with
a soft tissue mass; high frequency of
metastasis, characteristic chromosome
rearrangement.
progressive psychomotor deterioration,
myoclonic seizures, decorticate posture,
optic atrophy, blindness, coarse facies,
skeletal dysplasia.
juvenile/adult onset; psychotic
syndromes in previously normal subject,
schizophrenic disorders, paranoid
hebephrenic disturbance, hallucinations,
delusions.
macular edema, hemorrhage, exudates.
Eye isolated anomaly.
601607
133450
104170
600850
136900
recurrent thrombosis, disseminated
intravascular coagulation.
142360
failure to thrive, irritability, weakness,
pallor, infections, megaloblastic anemia,
immunodeficiency.
submucous cleft, hypernasal speech,
cardiac anomalies, other ocular defects,
short stature, mental retardation,
microcephaly, prominent nose with
squared root. Chromosome 22q11
deletion. Included in CATCH 22
spectrum of malformations (cardiac,
abnormal faace, thymic hypoplasia, cleft
palate, hypocalcaemia, 22 chromosoma
deletion).
275350
192430
601362
Prenat.Diagn.18,507510,1998
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 266
chromosome X localization
Genus Clinical Database
chromosome X localization
89 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
adrenomyodystrophy
supposed X-linked recessive
Akesson syndrome
supposed X-linked recessive
amelia X-linked
supposed X-linked recessive
amelo-cerebro-hypohydrotic
syndrome
genetic heterogeneity
supposed autosomal recessive
supposed X-linked recessive
autosomal dominant
genetic heterogeneity
X-linked dominant
X-linked recessive
myopathy, psychomotor retardation, liver
fatty degeneration, megalocornea,
bladder ectasia, chronic constipation.
mental retardation, spasticity,
microcephaly, thyroid aplasia,
folds/furrows scalp, cutis verticis gyrata,
cataract.
tetra-amelia, facial clefts, ears absence,
nose absence, atresia ani.
early infancy onset, seizures, spasticity,
mental deterioration, muscular
spasticity, demineralized enamel.
amelogenesis imperfecta
hypoplastic smooth
androgen insensitivity minimal
Bibliography[OMIM]:
300270
304200
301090
226750
hypoplastic amelogenesis imperfecta
smooth type.
104530
small penis without hypospadias,
minimal scrotal bifidity, delayed puberty,
gynecomastia, 46,XY karyotype with
normal testosterone levels.
kindred showing affected males having
either anencephaly or spina bifida.
B.D.Encyclopedia
2954 p.116
anencephaly-spina bifida
syndrome
X-linked recessive
anonychia thenar
genetic heterogeneity
supposed autosomal dominant
supposed X-linked dominant
genetic heterogeneity
supposed autosomal dominant
supposed X-linked recessive
genetic heterogeneity
multifactorial
supposed autosomal recessive
supposed X-linked recessive
X-linked recessive
absence of nails, limited to thumbs.
188200
isolated deficiencies in the sense of
smell.
301700
isolated form of imperforate anus.
Hypospadias and hearing loss in Xlinked recessive inheritance.
207500
301800
Prenat.Diagn.18,11951197, 1998
arthrogryposis, cholestatic jaundice
resembling Dubin-Johnson syndrome,
renal dysfunction, nephrocalcinosis.
301820
arthrogryposis X-linked lethal
X-linked recessive
301830
arthrogryposis X-linked
moderately severe
X-linked recessive
severe contractures, scoliosis, chest
deformity, hypotonia, respiratory
insufficiency.
contractures, scoliosis, ptosis,
cryptorchidism, inguinal hernias.
arthrogryposis X-linked
resolving
X-linked recessive
resolving arthrogriposis, with mild to
moderate contractures, normal
intelligence and no other anomalies.
juvenole onset. Deafness, peroneal
muscular atrophy, sensory ataxia,
cardiomyopathy, other clinical signs.
301830
anosmia congenital isolated
anus imperforate
arthrogryposis multiplex
congenita-renal and hepatic
abnormality
ataxia Friedreich type-Charcot
supposed contiguous genes
Marie Tooth-peroneal muscular supposed X-linked recessive
atrophy
ataxia Shokeir type
X-linked recessive
ataxia-deafness X-linked
supposed X-linked recessive
athrombia essential
Bergia syndrome
genetic heterogeneity
supposed autosomal recessive
supposed X-linked dominant
supposed X-linked recessive
branchial arch defects X-linked
supposed X-linked recessive
Genus Clinical Database
301410
301830
302900
302500
ataxia, nystagmus, without
kyphoscoliosis and pes cavus, late
teens onset.
infancy onset; hypotonia, ataxia,
301790
developmental delay, esotropia, optic
atrophy, deafness.
prolonged bleeding time with normal clot 209050
retraction, decreased platelet adhesion
and aggregation with normal count.
lethal hypertrophic cardiomyopaty,
mental retardation childhood onset,
muscle weakness with humeroperoneal
distribution, severe myopia.
microcephaly, deafness, short stature,
dysmorphic face, cryptorchidism.
chromosome X localization
309660
301950
90 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
bullous dystrophy macular type X-linked recessive
calvarial hyperostosis
supposed X-linked recessive
Cantalamessa syndrome
genetic heterogeneity
supposed autosomal recessive
supposed X-linked recessive
supposed X-linked recessive
Cantu-Hernandez syndrome
carbohydrate-deficient
glycoprotein syndrome type I
autosomal recessive
supposed genetic heterogeneity
supposed X-linked recessive
cardiomyopathy dilated X-linked supposed X-linked recessive
Casamassimo syndrome
X-linked recessive
cataract zonular-nystagmus
supposed X-linked recessive
cataract-microcorneamicrophthalmia
autosomal dominant
autosomal recessive
genetic heterogeneity
supposed X-linked recessive
supposed X-linked recessive
cataract-spasticity-mental
retardation syndrome
bullae, alopecia, hyper-depigmentation,
acrocyanosis, short stature, mental
retardation.
calvarium irregularity, frontoparietal
exophytic prominences, without
craniostenosis or intracranial pressure.
short stature, mild mental retardation,
primary gonadal failure, gynecomastia,
mitral valve prolapse.
Bibliography[OMIM]:
302000
302030
Am.J.Med.Genet.33,11
7-120,1989
308830
growth retardation, cerebral atrophy,
very short stature, microcephaly,
eyebrows/eyelashes absent, generalized
keratosis follicularis.
212065
severe psychomotor retardation,
hypotonia, ataxia, other neurological
601785
disorders.
juvenile onset; idiopathic
cardiomyopathy, progressive congestive
heart failure; sudden death.
microdontia, taurodontia, dens
invaginatus.
hereditary cataract zonular type
associated with nystagmus, limited to
male. Eye isolated anomalies.
cataract, microcornea, microphthalmia.
Eye isolated anomalies.
302045
313490
315000
302300
Genetic Diseases of
the Eye. Ed. Elias I.
Traboulsi 1998
cataract, hypotonia, ataxia, spasticity,
mental retardation.
Ophthal.Paed.Genet.5,
201-203,1985
Am.J.Dis.Child.119,17
6,1970
cava left superior vena Gorlin
syndrome
X-linked recessive
cleft palate, left superior vena cava
anomalies, club foot.
chondrodysplasia punctata
Maroteaux type
X-linked recessive
choroideremia-deafnessobesity syndrome
supposed X-linked recessive
choroideremia-hypopituitarism
syndrome
contiguous genes
supposed X-linked dominant
choroidoretinal degeneration
Falls Cotterman type
supposed X-linked recessive
302940
moderate growth disturbance without
asymmetry, distal phalanges hypoplasia,
epiphyseal stippling persisting third
years of life, facial dysmorphism
resembling Binder dysostosis.
visual fields constriction, choroidoretinal 303110
changes, obesity, congenital deafness.
Genetic Diseases of
the Eye. Ed. Elias I.
Traboulsi 1998 p.399
choroideremia, short stature,
Am.J.Med.Genet.34,51
hypopituitarism, neurological
1-513,1989
abnormalities.
visual reduction in man, tapetal-like
303200
reflex in woman. Eye isolated anomaly.
choroidoretinal dystrophy
supposed X-linked recessive
Christian II syndrome
X-linked dominant
Chudley-Lowry-Hoar syndrome
X-linked recessive
Genus Clinical Database
visual reduction beginning in middle age
in man, resembling retinitis pigmentosa,
absence of annular scotoma, early
involvement of central vision. Eye
isolated anomaly.
craniosynostosis involving metopic
suture, hemivertebrae/ cervical
vertebrae fusion, imperforate anus.
severe mental retardation, short stature,
mild obesity, hypogonadism, dysmorphic
facies, macrostomia, low total finger
ridge count.
chromosome X localization
303300
Stewart Prescott:Oral
Facial Genetics
C.V.Mosby Ed.p.751
1976
309490
91 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Collins-Partington syndrome
colon atresia
Inheritance:
Synthesis:
genetic heterogeneity
supposed autosomal dominant
supposed X-linked dominant
undefinable
supposed X-linked recessive
severe short stature, disproportionately
short limb, small hands, heart disease,
ptosis, high-arched palate, crowded
dentition.
126190
later in infancy onset, intestinal
obstruction, abdominal distention,
vomiting, congenital colonic atresia with
massive dilatation of the small intestine
and colon, proximal to the atretic colonic
segment.
peculiar greenish-golden tapetal-like
sheen in man, late onset. Eye isolated
anomaly.
severe mental retardation, seizures,
septum pellucidum absent,
communicating variety of hydrocephalus.
early in infancy onset; slow progressive
spastic quadriparesis, mental retardation.
303650
cone dystrophy X linked-tapetal supposed X-linked recessive
like sheen type
corpus callosum partial
agenesis
X-linked recessive
Davis mental retardation
syndrome
supposed X-linked recessive
deafness-dystonia-retardation
syndrome
supposed X-linked recessive
deafness-hypogonadism
syndrome
supposed X-linked recessive
deafness-hypogonadismalopecia syndrome
supposed X-linked recessive
undefinable
deafness-spastic paraparesis
syndrome
X-linked recessive
d'Ercole syndrome
X-linked recessive
Deshaies-Rott-Wissmuller
syndrome
supposed X-linked recessive
dextrocardia-other cardiac
malformations X-linked
supposed X-linked recessive
diabetes neonatal-diarrhea
X-linked recessive
diaphragm eventration X-linked supposed X-linked recessive
Dinno syndrome
X-linked recessive
Dyggve-Melchior-Clausen
syndrome X-linked
Egeberg disease
Genus Clinical Database
supposed X-linked recessive
progressive deafness, dysarthria,
hyperactivity, bizarre dystonic posture of
head and neck, other motor disorders,
mental retardation.
congenital deafness, primary
hypogonadism, thickened calvarium,
heterochromia hiridis.
hypogenitalism, sensorineural deafness,
alopecia.
spastic paraparesis, 10 years onset,
tremors, deafness, short stature, lens
opacities, corneal clouding,
choroidoretinal changes, hypogonadism.
prenatal growth deficiency,
microcephaly, mental retardation,
dysmorphic face, hypogenitalism,
cardiopathy, other clinical findings.
mental retardation, microcephaly, short
stature, obesity, hernias, other clinical
data.
dextrocardia associated with other
malformation, such as pulmonic
stenosis, transposition of great arteries,
asplenia or polysplenia.
severe diarrhea, insulin dependent
diabetes, high level of IgE.
anterior diaphragmatic hernia.
bilateral microcornea, iridochoroidal
coloboma, short stature, sloping
shoulders, underdeveloped clavicles,
kyphosis.
short trunk dwarfism, platyspondyly, mild
coarse face resembling Hurler
syndrome, iliac crest irregularities,
mucopolysacchariduria, without mental
retardation.
prolonged bleeding time and capillary
fragility due to combining features of
hemophilia A and Willebrand disease.
chromosome X localization
Bibliography[OMIM]:
304030
304100
309640
305050
304350
Genetic and Metabolic
deafness. London
W.B.Saunders 258259,1976
312910
Synd.Ident.4(2),58,1976
J.Genet.Hum.27,221236,1979
304750
300063
306950
B.D.OAS XII(6),109114,1976
304950
306800
92 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Ehlers-Danlos IX
supposed X-linked recessive
Ehlers-Danlos V
X-linked recessive
epidermodysplasia
verruciformis
genetic heterogeneity
supposed autosomal recessive
supposed X-linked recessive
skin laxity, digits hyperextensibility,
occiput protuberance characterized by
symmetrical bony horns on each side of
the foramen magnum, pointing caudad;
bladder diverticula, frequent loose stool,
copper and ceruloplasmin high levels.
moderate joint hypermobility, with
marked skin hyperextensibility, bruising
tendency, mild skin fragility.
lesions resembling verruca plana, with
peculiar vacuolization in the epidermal
cells, not involving nails, mucous
membranes, hair, frequent squamous
carcinomatous degeneration.
polyhydramnios, short stature, skeletal
dysplasia, hip dislocation, talipes,
polydactyly, cryptorchidism, dysmorphic
face, cleft palate, glossoptosis,
microstomia, micrognathia, contractures.
megaloblastic anemia, few months of
life onset, low serum folate levels.
prominent supraorbital ridges, joint
contractures, micro-retrognathia, dental
abnormalities, short trunk, straight
thoracic spine, scoliosis, hyperostosis.
facio-palato-osseous syndrome X-linked recessive
folic acid transport defect
X-linked dominant
frontometaphyseal dysplasia
X-linked recessive
gangliosidosis GM3
supposed X-linked recessive
Gibson syndrome
X-linked recessive
Gilbert-Dreyfus syndrome
autosomal recessive
genetic heterogeneity
sex-limited, sex influence
X-linked recessive
glomerulonephritis X-linked
supposed X-linked recessive
glutamyl ribose-5-phosphate
storage disease
X-linked recessive
Grix syndrome
X-linked recessive
Gutenberger syndrome
supposed X-linked recessive
Haar-Dyken syndrome
supposed X-linked recessive
Harris syndrome
X-linked recessive
Genus Clinical Database
coarse face, macroglossia, gingival
hypertrophy, stubby hands/feet, hernias,
hepatosplenomegaly, normal fundi,
mental retardation.
bilateral radial agenesis, hydrocephalus,
hypospadias, imperforate anus.
infertile 46,XY male, hypospadias,
hypogonadism, gynecomastia, testicular
histological changes resembling
Klinifelter syndrome. May be the same
of Rosewater, Lubs, Reifenstein
syndromes, reported as
pseudohermaphroditism male
incomplete type I, or allelicc forms of the
same disorder. X-linked recessive, also
autosomal dominant male-limited,
autosomal recessive male-limited.
mesangiocapillary glomerulonephritis
characterized by peculiar appearance of
the capillary walls with/without
mesangial cell interposition (type I-type
II).
coarse facies, mental retardation,
seizures, hypotonia, weakness,
proteinuria, renal failure, optic atrophy.
hirsutism, other cutaneous changes,
cleft palate, dysmorphic face, cleft
tongue, cardiopathy, microcephaly,
convulsions, other clinical findings.
thrombocytopenia, hematuria,
glomerulonephritis, high serum IgA
levels.
hemilateral congenital paresis, followed
by ipsilateral hemihypotrophy and
involuntary movements.
neonatal teeth, congenital cardiopathy,
intestinal anomalies/dysfunction.
chromosome X localization
Bibliography[OMIM]:
304150
305200
305350
J.Pediatr.98,747752,1981
229050
305620
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 396
305650
312190
307300
312100
305800
305920
B.D.OAS 11(5),107114,1975
314000
306960
Clin.Genet.9,479482,1976
93 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Holmes-Gang syndrome
X-linked recessive
B.D.Encyclopedia
3200 p.1796
hydrocephalus-cerebellar
agenesis
supposed X-linked recessive
mental retardation, microcephaly, large
anterior fontanel, short nose, club foot
deformity, hypotonia.
hydrocephalus, cerebellar agenesis,
absence of the foramina of Luschka and
Magendie.
mental retardation, dysmorphic face,
hypospadias, other clinical data.
low levels of uricemia due to tubular
hypersecretion.
atrichia, baldness, ichthyosis follicularis,
photophobia.
307830
hypospadias-mental retardation genetic heterogeneity
syndrome
supposed autosomal recessive
supposed X-linked recessive
undefinable
hypouricemia familial
supposed X-linked recessive
ichthyosis follicularis-atrichiaphotophobia
supposed contiguous genes
supposed X-linked recessive
ichthyosis-male hypogonadism contiguous genes
syndrome
X-linked recessive
immunodeficiency-6
X-linked recessive
infantile spasm X-linked
supposed X-linked recessive
infertile male due to defective
meiosis
sex-limited, sex influence
supposed X-linked recessive
infertile male syndrome
X-linked recessive
Jonas syndrome
supposed X-linked recessive
Kallmann syndrome-spastic
paraplegia
supposed X-linked recessive
Kapur syndrome
X-linked dominant
Kozlowski-Pietron syndrome
supposed X-linked recessive
lactic acidemia-E2 lipoyl
transacetylase defect
lenticonus posterior familial
genetic heterogeneity
supposed autosomal recessive
supposed X-linked recessive
undefinable
supposed X-linked recessive
Lesch-Nyhan mild
X-linked recessive
Lesch-Nyhan phenotypenormal HGPRT
X-linked recessive
Genus Clinical Database
male hypogonadotropic hypogonadism,
with congenital ichthyosis, ocular
defects.
infancy/adult onset; recurrent infections,
severe varicella, paucity of lymphoid
tissue with normal serum
immunoglobulin levels, normal B and NK
cells, decreased T lymphocytes
responses to immunogens.
peculiar, infantile type of seizure similar
to the one observed in West syndrome,
EEG hypsarrhythmic type.
male infertility due to spermatogenic
arrest. X-linked recessive, also
autosomal dominant male-limited,
autosomal recessive male-limited.
46,XY male, cryptorchisidm without
genital ambiguity, azoospermia, infertility
due to androgen resistance.
congenital insulin-dependent diabetes,
intractable secretory diarrhea, dysplastic
changes of intestinal mucosa, absence
of islets of Langerhans.
anosmia, infertility, other clinical findings
of Kallmann syndrome with spastic
paraplegia.
rheumatic-like fever, arthritic conditions,
widow's peak, ptosis, high ileal wings,
inability to touch the ipsilateral shoulder,
recurrent subluxations, other skeletal
defects.
stationary, unilateral, dysplastic carpal
changes.
hyperammonemia, profound lactic
acidosis due to deficiency in the E2
segment of the pyruvate dehydrogenase
complex.
familial posterior lenticonus, less severe
in the female.
gouty arthritis, spasticity, involuntary
movements, nephrolitiasis, occasionally
mental retardation/dementia, without
self-mutilation.
phenotype typical for Lesch-Nyhan
disease with self-mutilation, mental
retardation, spasticity, hyperuricemia,
normal HGPRT.
chromosome X localization
Bibliography[OMIM]:
307010
241760
308205
308200
312863
308350
309120
308370
415000
304790
308750
314570
Pediatr.Radiol.19,261262,1989
245348
Eye 9,119-123,1995
J.Inherit.Metab.Dis.5,1
83-186,1982
308950
94 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Lockhart syndrome
genetic heterogeneity
supposed autosomal recessive
supposed X-linked recessive
undefinable
macular dystrophy X-linked
X-linked recessive
Malamud-Cohen syndrome
X-linked recessive
plurimalformation syndrome less marked
in females, characterized by abdominal
muscle hypoplasia, urinary tract
malformations resembling prune belly
syndrome, mental retardation, deafness,
pulmonic stenosis.
dystrophy of the fundus oculi macular
area. Eye isolated anomaly.
males affected cerebellar ataxia,
followed by extrapiramidal signs.
male pseudohermaphroditism,
deafness, ocular changes, mental
retardation.
male pseudohermaphroditismmental retardation syndrome
genetic heterogeneity
supposed autosomal recessive
supposed X-linked recessive
Melnick-Needles osteodysplasty genetic heterogeneity
supposed autosomal dominant
supposed autosomal recessive
supposed X-linked dominant
mental retardation X-linked and supposed X-linked recessive
psoriasis
long bones cortical irregularity, other
skeletal dysplasia, dysmorphism,
micrognathia, full cheeks,
urinary/cardiac defects.
severe mental retardation, seizures,
dysmorphic face, strabismus, psoriasis,
other clinical findings, normal
chromosomes without fragile X.
obesity, mental retardation,
megalencephaly, dysmorphic facies,
macroorchidism.
tall thin Marfanoid habitus, long thin
face, joint hyperextensibility, large head,
moderate mental retardation without
macroorchidism, fra-X test negative.
mental retardation, distonic movements
of the hands, dysarthria.
Bibliography[OMIM]:
264140
309100
302600
Genet.Counsel.1,219225,1990
600122
309350
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 588
309480
mental retardation X-linked
Clark-Baraitser
X-linked recessive
mental retardation X-linked
Lujan-Fryns type
X-linked recessive
mental retardation X-linked
Partington type
X-linked recessive
mental retardation X-linked
Tranebjaerg type
X-linked recessive
mental retardation, macrostomia,
hypotonic mouth-breathing, psoriasis.
mental retardation X-linkedprecocious puberty
supposed X-linked recessive
mental retardation-male
hypogonadism-skeletal
anomalies syndrome
X-linked recessive
Am.J.Med.Genet.23,12
males with tall stature, mental
7-137,1986
retardation, precocious puberty,
macrocephaly; mother affected by
acanthosis nigricans, keratosis,
prominent jaw.
moderate short stature, mental
307500
retardation, infertility, hypogonadism,
cervical ribs/cervical vertebral anomalies.
mental retardation-Xq
duplication
chromosomic
X-linked recessive
metacarpal 4-5 fusion
genetic heterogeneity
X-linked recessive
supposed X-linked recessive
metaphyseal anadysplasia
microcephaly-white matter
calcification
Mikati-Barakat syndrome
Morse syndrome
Genus Clinical Database
genetic heterogeneity
supposed autosomal recessive
supposed X-linked recessive
undefinable
genetic heterogeneity
supposed autosomal recessive
supposed X-linked recessive
undefinable
genetic heterogeneity
X-linked recessive
B.D.Encyclopedia
2640 p.1789
309520
Am.J.Med.Genet.30,25
1-262,1988
Am.J.Med.Genet
30,263-273,1988
males severe mental retardation,
dysmorphic facies, short stature, ptosis,
hernia, small testes.
fourth and fifth metacarpal fusion.
B.D.Encyclopedia
3250 p.1801
irregular distal metaphyses, hypoplastic
femoral neck, recognized in the first
months of age and disappearing after
two years.
microcephaly, severe mental
retardation, calcification of the cerebral
white matter, corneal clouding.
309645
prenatal growth deficiency; growth
retardation, hypotonia, proximal renal
tubular failure, distal tubule calcification,
cholestatic jaundice, recurrent
infections, dysmorphic facies, skeletal
anomalies.
decreased fetal activity, congenital
contractures, microcephaly, severe
oloprosencephaly.
chromosome X localization
309630
251290
210550
306990
95 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
muscular dystrophy cardiac
type
supposed X-linked recessive
muscular dystrophy limited to
females
supposed X-linked dominant
cardiomyopathy, globular hypokinetic
heart, ECG changes, similar to
Duchenne disease, high serum creatine
kinase levels.
slowly progressive limb-girdle form of
muscular dystrophy; limited to female,
lethality in hemizygous males.
puberty onset; slow progression of
muscular dystrophy, resembling Becker
type; high creatine kinase levels.
shoulder/girdle/back muscular
dystrophy, sparing face, calves; high
serum CK levels; no myocardial
involvement.
progressive seizures, myoclonus,
mental retardation, psychosis; mild
symptoms in females.
progressive muscle weakness,involving
the legs without cardiac or neural
disturbance, high serum creatine
kinaselevels, characteristic autophagic
vacuoles.
congenital mild weakness, myopathy
with characteristic fingerprint bodies at
the muscle fibers periphery.
adulthood onset; males affected by
hypertrophy/patches of hypotrophy
inducing quadriceps unusual
appearance; later involvement of girdle
and hand muscles.
nephrolithiasis, renal tubular
dysfunction, nephrocalcinosis.
juvenile onset in males; motor-sensory
neuropathy restricted to the feet
inducing deformities and ulcerations.
neutrophils with partial Pelger-Huet
anomaly, neutropenia, lymphatic system
involvement, severe viral/bacterial
infection susceptibility.
hereditary, X-linked recessive or
dominant nystagmus. Eye isolated
anomaly.
myoclonia with nustagmus.
muscular dystrophy Mabry type supposed X-linked recessive
muscular dystrophy pectorodorsal
supposed X-linked recessive
myoclonus-epilepsy X-linked
supposed X-linked recessive
myopathy excessive autophagy X-linked recessive
myopathy fingerprint body type
supposed X-linked recessive
myopathy quadriceps
supposed X-linked recessive
nephrolithiasis X-linked
supposed X-linked recessive
neuropathy sensory X-linked
supposed X-linked recessive
neutropenia Pelger-like anomaly X-linked recessive
nystagmus X-linked
X-linked dominant
X-linked recessive
nystagmus-myoclonic
syndrome
supposed X-linked dominant
O'Brien-Nyhan-Shear syndrome supposed X-linked recessive
obsessive-compulsive disorder- supposed autosomal dominant
1
short stature, joint contractures,
dysostosis multiplex,
mucopolysacchariduria.
obsessive compulsion.
Bibliography[OMIM]:
309930
309950
310000
310095
310370
310440
305550
310450
310468
310470
310350
310700
310800
Clin.Genet.9,399411,1976
164230
occipital hair-white lock
supposed X-linked recessive
patches of white hair on occipital area.
310900
olivopontocerebellar X-linked
X-linked recessive
302500
ophthalmoplegia externalmyopia
X-linked recessive
optic atrophy-spastic
paraplegia syndrome
supposed X-linked recessive
infantile onset; cerebellar ataxia, slow
progression, normal
strength/reflex/sensation.
bilateral blepharoptosis, external
ophthalmoplegia, eccentric pupil, other
ocular changes, severe myopia,
cardiac/skeletal defects.
optic atrophy, spastic paraplegia,
neurodegenerative disorders.
orofaciodigital syndrome Xlinked recessive
supposed X-linked recessive
clinical features resembling OFD I
syndrome, involving males, with preand postaxial polydactyly, median cleft,
other clinical changes.
Clin.Genet.34,325332,1988
Genus Clinical Database
chromosome X localization
311000
311100
96 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
osteopathia striata WhyteMurphy type
supposed X-linked dominant
311280
otopalatodigital II syndrome
supposed X-linked dominant
long bones longitudinal striations,
increased bone density, macular
hyperpigmented dermopathy, white
forelock.
dysmorphic face, large anterior
fontanelle, microstomia, cleft palate,
overlapping/flexed fingers, curved long
bones, other skeletal defects, respiratory
distress, deafness.
palatodigital syndrome
supposed X-linked recessive
first decade of life onset; mental
retardation, lower limb spasticity,
cerebellar ataxia, tremor, bilateral
posterior periventricular white matter
lesions.
spastic paraparesis, tremors, lens
opacity, other ocular changes, short
stature, hypogonadism, deafness.
severe viral, protozoan, bacterial
infections due to immune abnormalities;
deficiency of a lymphocyte surface
glycoprotein.
low birth weight, small face resembling
Silver-Russell, short stature, patches of
widespread skin pigmentation, large
head.
juvenile onset; idiopathic destruction of
alveolar bone, leading to premature loss
of teeth.
Am.J.Med.Genet.36,25
1-257,1990
pancreas adenocarcinoma
familial
genetic heterogeneity
supposed autosomal recessive
X-linked recessive
paraplegia spastic Gutman type supposed X-linked recessive
paraplegia spastic Wells
syndrome
X-linked recessive
Parkman disease
supposed X-linked recessive
Partington syndrome
supposed X-linked dominant
periodontosis juvenile
Plott syndrome
genetic heterogeneity
supposed autosomal recessive
supposed X-linked dominant
genetic heterogeneity
supposed autosomal dominant
supposed X-linked recessive
undefinable
supposed X-linked recessive
poliosis occipital type
X-linked recessive
Porteous-Burn syndrome
supposed X-linked recessive
Powell syndrome
supposed X-linked recessive
proteinuria asymptomatic
supposed X-linked recessive
pseudohermaphroditism male
17,20-desmolase deficiency
supposed X-linked recessive
pterygium syndrome X-linked
supposed X-linked dominant
supposed X-linked recessive
pigmented paravenous
chorioretinal atrophy
Genus Clinical Database
Bibliography[OMIM]:
304120
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 272
micrognathia, cleft palate resembling
302380
Robin sequence, index finger deviation
Smith's Recognizable
due to accessory phalangeal ossification Patterns of Human
center, other anomalies.
Malformation. 5th
Edition pag. 288
abdominal pain, jaundice, anorexia,
260350
weight loss, diabetes due to pancreatic
190070
adenocarcinoma.
312910
308220
312780
260950
characteristic fundus appearance due to
corpuscle pigmentation in a paravenous
distribution, usually asymptomatic. Eye
isolated anomaly.
172870
congenital laryngeal abductor paralysis,
laryngeal stridor, mental retardation,
occasionally ocular changes.
small area of occipital white lock, with
normal colour of the skin beneath the
hair.
microcephaly, developmental delay,
dysmorphic facies resembling CoffinLowry, hypogenitalism, hypotonia.
resistent profuse diarrhea, eczema,
hemolytic anemia, cogenital diabetes,
severe viral infections, normal
immunologica/chemotaxis data.
tubular proteinuria low-molecular-weight,
without renal failure.
females with normal genitalia, infertility,
failure of pubertal development; males
46,XY with ambiguous genitalia/sex
reversal, rudimentary uterus/falloppian
tubes; no adrenogenital syndrome.
multiple flexion contractures, skin
webbing, cystic hygroma, fetal hydrops,
intrauterine growth retardation.
308850
chromosome X localization
Heredity in
Ophthalmology: p.519
C.V.Mosby Ed. 1961
J.Med.Genet.27,339340,1990
304930
308990
309150
312150
97 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
pulmonary hypertension of the
newborn
X-linked dominant
X-linked recessive
R-binder deficiency
X-linked recessive
Reifenstein syndrome
autosomal recessive
genetic heterogeneity
sex-limited, sex influence
X-linked recessive
renal tubular acidosis II
supposed genetic heterogeneity
supposed X-linked recessive
Renier syndrome
X-linked recessive
reticuloendotheliosis X-linked
supposed X-linked recessive
retinal detachment congenital
autosomal dominant
autosomal recessive
genetic heterogeneity
X-linked recessive
genetic heterogeneity
supposed X-linked recessive
persistent, congenital pulmonary
hypertension inducing right-to-left shunt
through the foramen ovale or ductus
arteriosus.
unstable gait, paresthesia, other
neurologic disability diagnosed as
multiple sclerosis, congenital absence of
R-type binders of cobalamin (vitamin
B12).
infertile 46,XY male, hypospadias,
hypogonadism, gynecomastia, testicular
histologic features resembling Klinefelter
syndrome. May be the same of Lubs,
Gilbert-Dreyfus, Rosewater syndromes,
reported as pseudohermaphroditism
male incomplete type I, or alleelic forms
of the same disorder. X-linked
recessive, also autosomal dominant
male-limited, autosomal recessive malelimited.
male infants with failure to thrive,
dehydration, metabolic acidosis, without
nephrocalcinosis and bone disease;
occasionally neuro-ocular clinical
findings including cataract.
adrenal hypoplasia, muscular dystrophy,
mental retardation, glycerol-kinase
deficiency.
malignant reticuloendotheliosis
characterized by fever, anemia,
hepatosplenomegaly, jaundice,
lymphadenopathy.
congenital retinal nonattachment;
occasionally changes resembling
pseudoglioma. Eye isolated anomaly.
retinal dysplasia
Robin sequence-facial digital
anomalies
supposed X-linked recessive
Robin sequence-heart
malformation-clubfoot
X-linked recessive
Rosenberg-Chutorian syndrome genetic heterogeneity
supposed autosomal recessive
supposed X-linked recessive
Rosewater syndrome
X-linked recessive
Rubinstein-like syndrome
genetic heterogeneity
supposed autosomal dominant
supposed X-linked dominant
Genus Clinical Database
visual function defect one/both eyes,
other ocular dysfuncions, characteristic
ophthalmological changes. Eye isolated
anomalies.
cleft palate, severe micrognathia,
glossoptosis, tapering fingers,
brachytelephalangy, hyperconvex nails.
cleft palate, micrognathia, glossoptosis,
resembling Pierre-Robin sequence,
clubfoot, congenital cardiopathy.
n.s.deafness, loss visual acuity, optic
atrophy, dysarthria, muscular
neurogenic atrophy, polyneuropathy
suggesting Charcot-Marie-Tooth disease.
infertile 46,XY male, hypospadias,
hypogonadism, gynecomastia, testicular
histological changes resembling
Klinefelter. Mai be the same of
Reifenstein, Lubs, Gilbert-Dryfus
syndromes, reported as
pseudohermaphroditism male
incomplete type I, or allelic forrms of the
same disorder. Male-limited inheritance.
clinical appearance of Rubinstein-Taybi
syndrome, without mental retadation.
chromosome X localization
Bibliography[OMIM]:
265380
193090
312300
312100
312400
Clin.Genet.24,243251,1983
312500
312530
312550
311895
311900
311070
306500
312100
180850
98 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
sacral meningocele X-linked
supposed X-linked dominant
312800
Saul-Stevenson syndrome
supposed X-linked dominant
undefinable
Say syndrome
genetic heterogeneity
supposed autosomal dominant
supposed X-linked recessive
Say-Meyer syndrome
supposed X-linked recessive
scapulo-peroneal dystrophy
X-linked recessive
SCARF syndrome
supposed genetic heterogeneity
X-linked recessive
Schimke-Horton syndrome
supposed X-linked recessive
schneckenbecken skeletal
dysplasia
X-linked recessive
scleroderma familial
progressive
autosomal dominant
genetic heterogeneity
supposed X-linked recessive
sclerosis cerebral Scholtz type
supposed X-linked recessive
Scott syndrome
supposed X-linked recessive
Seemanova syndrome I
supposed X-linked recessive
Sengers syndrome
supposed X-linked recessive
Setchell disease
Shear-Nyhan syndrome
genetic heterogeneity
supposed autosomal recessive
supposed X-linked recessive
undefinable
supposed X-linked dominant
preponderance of female sex; anterior
sacral meningocele, partial absence of
sacrum/coccyx, urinary incontinence,
constipation, other clinical findings due
to neurological involvement.
Marfanoid habitus, ectopic pupils,
mental retardation, tall stature,
arachnodactyly.
cleft palate, microcephaly, mental
retardation, micrognathia, short stature,
tapered fingers with hypoplastic distal
phalanges, low-set thumb, renal
dysplasia.
trigonocephaly, short stature, mental
retardation, developmental delay.
first decade onset; slowly progressive
humeroperoneal muscle weakness,
contractures, neck flexion limitation,
without pseudohypertrophy. May be the
same of Emery-Dreifuss syndrome.
lax skin, joint hyperextensibility, herniae,
craniosynostosis, pectus carinatum,
vertebral anomalies, teeth hypoplasia,
dysmorphic face, ambiguous genitalia,
liver nodules, psychomotor retardation.
choreoathetosis, hypotonia,
mental/growth retardation, postnatal
microcephaly, strabismus, deafness.
polyhydramnios, short-limb, large skull,
flat face, skeletal dysplasia, snail-like
iliac wings.
generalized/limited dermis thickening or
atrophy, due to collagen accumulation;
visceral involvement, calcinosis,
Raynaud disease, interstitial pulmonary
fibrosis, vasculitic, ulcers.
deafness, blindness, weakness,
spasticity, dementia, chyldhood onset.
brachycephaly, dysmorphic facies,
hirsutism, syndactyly , growth/mental
retardation, spina bifida occulta,
dermatoglyphics anomalies.
microcephaly, spastic diplegia, mental
retardation, epilepsy.
congenital hydrocephalus, mental
retardation , short stature, obesity,
hypogenitalism.
severe intrahepatic cholestasis due to
inborn error in bile acid synthesis.
308050
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 308
Siber syndrome
X-linked recessive
unilateral ichthyosiform erythroderma,
involving trunk/limbs, sparing the face;
ipsilateral limb anomalies, with/without
ipsilateral visceral anomalies, transitory
punctate cartilage calcification, other
associated findings.
microcephaly, microphthalmia, corneal
opacity, hypospadias, cryptorchidism,
spastic quadriplegia.
smell cyanade inability
supposed X-linked recessive
inability to smell cyanide.
Smith-Fineman-Myers
syndrome
supposed X-linked recessive
undefinable
microcephaly, mental retardation, short
stature, hypotonia, dysmorphic face.
Genus Clinical Database
chromosome X localization
Bibliography[OMIM]:
Proc.Gr.Genet.Center
1,14-15,1982
181180
314320
B.D.Encyclopedia
2491 p.613
312830
312840
269250
181750
302700
312860
311400
Tijd.Kindergen.53,3134,1985
235555
Clin.Genet.26,453456,1984
Am.J.Ophthalmol.
99,51-55,1985
304300
309580
99 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
spastic paraplegia-athetosis
X-linked recessive
312890
Spiegler-Brooke syndrome
genetic heterogeneity
supposed autosomal dominant
X-linked dominant
spondylometaphyseal
dysplasia Richmond type
X-linked recessive
teeth buried
X-linked recessive
athetosis, spastic paraplegia,
occasionally seizures and myoclonus.
cylindroma and epithelioma, adenoides
cysticum, increasing translucent
papules/nodules, mainly on the face,
consisting of horn cysts and basaliomalike cells; cancer tendency. May be the
same as cylindromatosis.
coarse face, flat wide nasal bridge,
hypertelorism, strabismus, nystagmus,
contractures, severe kyphosis, speech
impairment, flar vertebral bodies.
metaphyseal dysplasia
teeth buried by mucopolysaccharide.
teeth impacted
supposed X-linked recessive
308280
teeth oligodontia X-linked
X-linked dominant
testicular feminization
incomplete
X-linked recessive
thumbs clasped
genetic heterogeneity
supposed X-linked recessive
Tourette disease
genetic heterogeneity
supposed autosomal dominant
supposed X-linked recessive
ulnar-mammary syndrome
autosomal dominant
genetic heterogeneity
supposed X-linked dominant
Usher IV syndrome
supposed X-linked recessive
Van den Berghe syndrome
sex-limited, sex influence
supposed X-linked recessive
supposed contiguous genes
X-linked recessive
unerupted tooth, positioned against
another tooth, or against bone/soft
tissue, leading difficult its further
eruption.
oligodontia, hypodontia in both
dentitions.
detectability age at birth or at puberty;
phallic enlargement, reported as
clitoromegaly, partial labioscrotal fusion,
without pubertal virilization,
abdominal/inguinal testes; 46,XY,
normal plasma testosterone.
adducted/flexed thumbs, due to
extension defect; extending during Moro
reflex, usually persisting until 3-4
months of age.
disorder affecting speech, learning,
behaviour; multiple motor and vocal tics,
throat, clearing, sniffing, sucking,
inappropriate words /phrases, including
coprolalia.
upper limbs anomalies, involving ulnar
ray structures, apocrine-mammary
defects, characterized by axillary hair,
absence small/absent mammary glands
and nipples.
male with retinitis pigmentosa and
congenital deafness; occasionally
cataract.
ulnar hypoplasia/agenesis and lobsterclaw of feet.
van den Bosch syndrome
varicose veins
W syndrome
genetic heterogeneity
multifactorial
supposed autosomal dominant
supposed X-linked dominant
supposed genetic heterogeneity
supposed X-linked recessive
Waters-West syndrome
X-linked recessive
Winkelman syndrome
genetic heterogeneity
multifactorial
supposed autosomal recessive
supposed X-linked recessive
Genus Clinical Database
Bibliography[OMIM]:
313100
313420
313550
313500
B.D.Encyclopedia
0050 p.119
314100
137580
181450
312650
314360
anhidrosis, mental retardation,
choroideremia, acrokeratosis
verruciformis, winged scapulae.
varicose veins of the lower extremities.
314500
mild mental retardation, seizures,
dysmorfism, median cleft palate/ lip,
upper limbs anomalies.
male affected; lethal congenital
hemolytic anemia, hepatosplenomegaly,
external genital anormalies.
311450
early-onset retinitis pigmentosa,
dysarthria, extrapyramidal rigidity, other
clinical findings due to progressive
pallidal degeneration.
chromosome X localization
192200
Am.J.Med.Genet.55,31
9-324,1995
600461
260200
100 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
X-linked recessive
polyhydramnios, fetal movements
decreased, intestinal atresia, atelia,
urogenital anomalies, hydrocephalus,
other neurological defects, ectromelia,
amelia, other clinical findings including
ocular defects.
Eur.J.Pediatr.144,412414,1985
Aarskog syndrome
genetic heterogeneity
supposed autosomal dominant
supposed X-linked dominant
X-linked dominant
ptosis, other ocular abnormalities,
widow's peak, short nose, short stature,
brachydactyly, mild syndactyly, scrotal
fold, hemochromatosis, other clinical
data.
adrenal hypoplasia congenital
X-linked
X-linked recessive
agammaglobulinemia X-linked
type 2
X-linked recessive
Aicardi syndrome
X-dominant lethal in male
vomiting, cyanosis, apneic spells,
hypoglycemia, seizures, collapse,
hyponatremia, hyperkalemia, signs of
Addison disease.
clinical data of agammaglobulinemia
Bruton type but due to a gene not
located at Xq21.3.
corpus callosum agenesis, psychomotor
retardation, infantile flexion spasms,
myoclonic seizures, corneal clouding,
lacunar chorioretinopathy.
305400
100050
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 128
300200
albinism ocular ForsiusEriksson type
X-linked recessive
albinism ocular X-linked type 1
X-linked recessive
albinism ocular-deafness
syndrome Winship type
supposed X-linked recessive
amelogenesis imperfecta
hypomaturation X-linked
X-linked recessive
amelogenesis imperfecta
hypoplastic rough
X-linked dominant
amyloidosis cutaneous familial
X-linked dominant
ataxia-myoclonic
encephalopathy-macular
degeneration
X-linked recessive
Brunner syndrome
X-linked recessive
cataract Walsh-Wegman type
X-linked recessive
Charcot-Marie-Tooth
neuropathy X-linked 2
X-linked recessive
Zimmer syndrome
Bibliography[OMIM]:
chromosome Xp localization
Genus Clinical Database
ocular albinism, fovea hypoplasia,
nystagmus, myopia, protanomalous
colorblindness. Eye isolated anomalies.
nystagmus, head nodding, depigmented
fundus, iridal dyschromia. Eye isolated
anomaly.
ocular albinism, iridal dyscromia,
choroidoretinal defects, late onset
sensorineural deafness.
opaque soft easily abraded enamel with
normal thickness resembling fluorosis.
300310
304050
Prenat.Diagn.20,344346,2000
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 534
300600
300500
300650
301100
hypoplastic amelogenesis imperfecta
with rough surface and very hard but
abnormally thin enamel.
in man diarrhea, respiratory infections,
photophobia, skin hypopigmentation,
ocular changes; in female:skin
hyperpigmentation (linear streaks).
congenital ataxia, myoclonic
encephalopathy, macular degeneration.
301200
mild mental retardation, behavior
change, aggressivity.
cataract total congenital, slight vision
reduction in heterozygous femals. Eye
isolated anomaly.
ambulation disability due to slowly
progressive peroneal muscle weakness
and wasting, pes cavus, scoliosis,
difficulty in walking,foot drop and
steppage gait, atrophy of the small
muscle hands, occasionally upper
extremity tremor.
Am.J.Hum.Genet.52,1
032-1039,1992
302200
chromosome Xp localization
301220
Am.J.Med.Genet.64(1)
,69-72,1996
302801
101 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
chondrodysplasia punctata Xlinked recessive
genetic heterogeneity
X-linked recessive
Coffin-Lowry syndrome
X-linked dominant
cone dystrophy X-linked,1
supposed X-linked recessive
craniofrontonasal dysostosis
genetic heterogeneity
supposed autosomal dominant
supposed X-linked dominant
supposed X-linked recessive
symmetric distribution of the punctate
calcifications, distal phalanges
hypoplasia, mental retardation in
affected males.
short stature, mental retardation,
pleasant attitude, dysmorphic coarse
facies, thick lower lip, pugilistic nose,
kyphoscoliosis, short puffy tapering
fingers, drumstick terminal phalanges by
X-ray.
diminished visual acuity, normal color
vision, myopia in man. Eye isolated
anomaly.
hypertelorism, broad bifid nasal tip,
midface hypoplasia, craniosynostosis,
cleft lip/palate, skeletal anomalies.
deafness neurosensory Xlinked 6
X-linked dominant
dermoids corneal
X-linked recessive
exudative vitreoretinopathy 2
genetic heterogeneity
X-linked recessive
focal dermal hypoplasia
genetic heterogeneity
X-linked dominant
glycogenosis IXA
X-linked recessive
glycogenosis VIII
X-linked recessive
Golabi-Ito-Hall syndrome
X-linked recessive
gonadotropin deficiency Xlinked
supposed X-linked recessive
granulomatous disease X-linked genetic heterogeneity
X-linked recessive
hemoglobinuria paroxysmal
nocturnal
Genus Clinical Database
genetic heterogeneity
Bibliography[OMIM]:
302950
303600
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 274
304020
304110
122920
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 422
deafness, neurosensorial with
300066
incomplete penetrance and variable
Hum.Mol.Genet.5,138
manifestation in carrier females. Infantile 3-1387,1996
onset.
304730
abnormal mesoblastic tissue, covered
by epithelium. Eye isolated anomaly.
305390
posterior vitreous detachment, in all
quadrants; more severe form than
autosomal dominant. Could be the same
gene of Norrie disease. Occasionally
retinal changes resembling
pseudoglioma. Eye isolated anomalies.
305600
dermal hypoplasia with fat herniations,
red streaking skin,
Smith's Recognizable
microphthalmos/anophthalmos, other
Patterns of Human
ocular/ cutaneous/orodental/skeletal
Malformation. 5th
defects.
Edition pag. 532
in males protuberant abdomen,
306000
hepatomegaly, growth retardation,
delayed puberty, hypoglycemia,
hyperlipidemia without muscles
involvement and mild symptoms in
females.
306000
growth retardation, hepatomegaly,
muscle cramps, stiffness, fatigability
after exercise, myoglobinuria, sexual
delay.
Am.J.Med.Genet.17,36
postnatal growth deficiency, mental
7-374,1984
retardation, triangular face,
dysmorphism, microcephaly, heart
defects, other anomalies.
hypogonadism hypogonadotropic.
306190
infant onset; severe pyogenic
infections/granulomas in any organs,
immunodeficiency, susceptibility to
infections by any catalase-positive
organisms.
paroxysmal nocturnal hemoglobinuria
associated with vomit, splenomegaly,
sickness, due to unusual erythrocytes
susceptibility to lytic action of
complement; hemolysis, pancytopenia,
positive acidifying hemolysis test, low
leukocyte alkaline phosphatase leevels,
decreased RBC acetylcholinesterase.
chromosome Xp localization
306400
107271
102 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
hyperglycerolemia infantile form X-linked recessive
ichthyosis X-linked
X-linked recessive
incontinentia pigmenti I
X-dominant lethal in male
Kallmann syndrome 1
X-linked recessive
keratosis follicularis spinulosa
decalvans cum ophiasi
X-linked recessive
Lenz syndrome
X-linked recessive
Leri-Weill syndrome
X-linked dominant
McLeod syndrome
X-linked recessive
mental retardation Wilson type
X-linked recessive
mental retardation X-linked 49
mental retardation X-linked 50
acanthocytosis, chronic granulomatous
disease.
severe mental retardation, mutism,
seizures, dysmorphic face. Xp11
localization.
males affected by isolated mental
retardation.
males affected by isolated mental
retardation.
mental retardation X-linked
Atkin-Flaitz type
X-linked recessive
mental retardation X-linked
Renpenning type
X-linked recessive
mental retardation X-linked
Sutherland type
X-linked recessive
mesomelic dwarfism Langer
type
genetic heterogeneity
supposed autosomal recessive
supposed X-linked recessive
Genus Clinical Database
gluco-mineralocorticoid defect,
osteoporosis, cryptorchidism, dystrophic
myopathy, developmental delay.
ichthyosis in male, especially
calves/cubital fossae/neck, dirty
appearance sparing palms, corneal
opacity.
females with congenital/neonatal linear
skin bullae/vesicles, band-like
hyperpigmentation, blisters, alopecia,
oro-neuro-ocular defects including
cataract. Four stages of development:
inflammatory- verrucous-pigmentedhypopigmented. Occasionally
developmment of retinoblastoma,
paratesticular rabdomyosarcoma, acute
leukemia, Wilms tumor, rabdoid renal
tumors.
hypogonadotropic hypogonadism,
anosmia, cryptorchidism; occasionally
arhinencephaly, other clinical data.
thickening of the skin, loss of hair, loss
of eyebrows/eyelashes, absent beard,
blepharitis, ectropion, corneal
degeneration, ophiasis, i.e. baldness in
winding streaks about the head.
microphthalmos/anophthalmos, ptosis,
other ocular changes, microcephaly,
mental retardation, large protruding
ears, skeletal anomalies, camptosyndactyly, urogenital/other visceral
anomalies.
mesomelic dwarfism, with Madelung
wrist deformity, forearm bowing, short
thickened radius, elbow/wrist motion
limitation. Pseudoautosomal gene.
short stature, macrocephaly, coarse
face, broad nasal tip, thick lips,
macroorchidism. May be the same as
Warkany syndrome.
short stature, microcephaly, mental
retardation, unremarkable face; without
fragile X.
mental retardation, short stature,
microcephaly, spastic diplegia, small
testes, intra-uterine growth retardation.
severe mesomelic dysplasia,
curved/short radius and tibia,
hypoplastic ulna and fibula, restricted
elbows movements, hands/feet
displaced laterally, mandible hypoplasia.
chromosome Xp localization
Bibliography[OMIM]:
307030
308100
308300
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 502
601707
308800
309800
127300
312865
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 440
314850
309545
300114
Am.J.Med.Genet.73,47
4-479,1997
300115
Am.J.Med.Genet.73,47
4-479,1997
309530
308400
309500
309470
249700
312865
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 442
103 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
microphthalmos-linear skin
defects
Inheritance:
Synthesis:
supposed contiguous genes
supposed X-dominant lethal in male
X-linked dominant
irregular linear skin defects involving
head/neck; ocular defects, occasionally
other clinical findings. Deletion Xp22.3.
muscular dystrophy Becker type X-linked recessive
muscular dystrophy Duchenne
type
genetic heterogeneity
X-linked recessive
myopathy dystrophin defect
X-linked recessive
N syndrome
supposed X-linked recessive
Nance-Horan syndrome
X-linked recessive
nephrolithiasis X-linked 2
X-linked recessive
night blindness congenital
stationary type 1
genetic heterogeneity
X-linked recessive
night blindness congenital
stationary type 2
X-linked recessive
Norrie disease
X-linked recessive
Opitz syndrome type I
X-linked recessive
optic atrophy Leber type
mitochondrial
optic atrophy non-Leber type
X-linked recessive
ornithine transcarbamylase
deficiency
X-linked dominant
orofaciodigital syndrome I
X-dominant lethal in male
X-linked dominant
Genus Clinical Database
late childhood onset; pelvic muscle
weakness, calf muscles
pseudohypertrophy, high serum creatine
kinase level.
3-5 years of age onset; pelvic
weakness/atrophy, difficulty in
squatting/climbing, stairs waddling gait,
hyperlordosis, calves
pseudohypertrophy, cardiomyopathy,
high serum creatine kinase levels.
Dystrophin gene defect.
myopathy non progressive, cramps,
myalgia.
mental retardation, visual impairment,
deafness, eyelids laterally overlapping,
large corneas, abnormal auricles,
cryptorchidism, hypospadias, spasticity.
male cataract, other ocular defects,
dental anomalies, supernumerary
incisors, peculiar ear malformation,
short fourth metacarpals.
nephrocalcinosis, renal stones,
progressive renal failure, microglobinuria.
congenital non-progressive night
blindness, subnormal vision, myopia,
nystagmus, without progressive retinal
degeneration. Eye isolated anomaly.
decreased visual acuity and congenital
loss of night vision, without progressive
retinal degeneration. Eye isolated
anomaly.
bilateral leukocoria at birth,
microphthalmos, other ocular defects,
mental retardation, late-onset deafness,
hypogonadism. Occasionally retinal
changes resembling pseudoglioma.
Could be the same gene as
vitreoretinopathy exudative.
dysphagia, stridorous cry, hoarse voice,
typical dysmorphism, hypertelorism,
prominent occiput, hypospadias, other
anomalies.
sudden progressive central vision loss
due to optic atrophy, second/third
decades onset; heart conduction
defects. Exclusively (non-mendelian)
maternally inheritance.
early onset/congenital optic atrophy;
occasionally mental retardation, other
neurological findings. The gene may be
between markers DXS993 and DXS991.
ataxia, headaches, vomiting, respiratory
distress, hypotonia, lethargy, coma,
hyperammonemia, arginine/citrulline low
levels.
jaw/tongue, cleft lobulated tongue with
hamartomas, irregular cleft palate,
multiple milia, hyperplastic oral frenula,
synbrachydactyly-polydactyly, mental
retardation.
chromosome Xp localization
Bibliography[OMIM]:
309801
J.Med.Genet. 27,5963,1990
J.Med.Genet. 28,143144,1991
310200
310200
600119
310200
310465
302350
300009
310500
300071
310600
300000
535000
311050
Am.J.Hum.Genet.61,9
34-939,1997
311250
311200
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 262
104 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
phosphoribosyl-pyrophosphate X-linked recessive
synthetase II
phosphoribosyl-pyrophosphate supposed X-linked dominant
synthetase overexpression 1
X-linked recessive
Prieto mental retardation
syndrome
X-linked recessive
properdin deficiency
X-linked recessive
Proud-Levine-Carpenter
syndrome
X-linked recessive
pyruvate dehydrogenase
deficiency
genetic heterogeneity
supposed autosomal recessive
X-linked recessive
renal cell carcinoma papillary
type
autosomal dominant
retinitis pigmentosa-15
X-linked dominant
retinitis pigmentosa-2
X-linked recessive
retinitis pigmentosa-3
X-linked recessive
retinitis pigmentosa-6
X-linked recessive
retinitis pigmentosa-mental
retardation syndrome
retinoschisis X-linked
supposed contiguous genes
X-linked recessive
genetic heterogeneity
rickets vitamin D-resistant I
X-linked dominant
rickets vitamin D-resistant II
X-linked dominant
Rud syndrome
genetic heterogeneity
supposed X-linked recessive
sarcoma synovial
sporadic
sideroblastic anemia X-linked
X-linked recessive
Genus Clinical Database
Bibliography[OMIM]:
ataxia, mental retardation, other
neurological disorders, cardiomyopathy,
renal failure, arthritis, diabetes,
dysmorphic face.
severe phenotype in early onset; no
neurologic expressions in late onset.
Gout, due to PRPS overexpression,
deafness, neurologic involvement.
mental retardation, subcortical atrophy,
dysmorphism, supernumerary teeth,
sacral dimple, patella luxation, ocularskeletal changes.
fulminant meningococcal infections due
to properdin deficiency.
male with severe acquired
micrencephaly, contrattures, scoliosis,
optic atrophy, other clinical data.
Variable expression in females.
growth retardation, lactic acidosis,
weakness, ataxia, respiratory infections,
optic atrophy, mental retardation, other
neurological defects.
hereditary multiple papillary renal cell
carcinoma.
311860
X-linked dominant retinitis pigmentosa.
May be the same of RP6. Eye isolated
anomaly.
decreased dim light vision, and
constricted visual fields, with typical
retinal changes. Eye isolated anomaly.
decreased dim light vision, and
constricted visual fields, with typical
retinal changes; choroidoretinal
degeneration with retinal reflex in
heterozygous women. Eye isolated
anomaly.
decreased dim light vision, and
constricted visual fields, with typical
retinal changes.May be the same of
RP15. Eye isolated anomaly.
mental handicap and retinitis
pigmentosa.
300029
visual defect with typical
ophthalmological data, juvenile/middle
life onset. Occaionally retinal changes
resembling pseudoglioma. Eye isolated
anomaly.
rachitic deformity, short stature,
osteomalacia, high alkaline phosphatase
levels, hypophosphatemia. Misdiagnosis
of ankylosing spondylitis in adult males.
rachitic deformity, short stature,
osteomalacia, high alkaline phosphatase
levels, hypophosphatemia, deafness.
congenital ichthyosis, seizures, mentalgrowth retardation, hypogonadism,
retinitis pigmentosa, other anomalies.
soft tissue sarcoma of synovial, juvenile
onset, more common in males, frequent
t(X;18)(p11.2;q11.2).
311850
309610
312060
300004
208800
312170
179755
312600
312610
Genomics 8,3540,1990
312612
Am.J.Hum.Genet.55,9
16-922,1994
312700
307800
307810
312770
312820
600192
300192
hypochromic anemia, hemochromatosis, 301300
somewhat enlarged spleeen.
chromosome Xp localization
105 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Bibliography[OMIM]:
Snyder-Robinson syndrome
X-linked recessive
spondyloepiphyseal dysplasia
tarda
genetic heterogeneity
supposed autosomal recessive
X-linked recessive
Swyer syndrome
supposed X-linked recessive
undefinable
thrombocytopenia X-linked
supposed contiguous genes
X-linked recessive
Wilson mental retardation
syndrome
supposed X-linked recessive
Wiskott-Aldrich syndrome
autosomal dominant
supposed autosomal recessive
supposed genetic heterogeneity
X-linked recessive
309583
Clin.Pediat. 8,669674,1969
Am.J.Hum.Genet. 51
(suppl.9: A181
only,1992
male affected, childhood/juvenile onset; 313400
short trunk, platyspondyly, premature
Smith's Recognizable
osteoarthrosis, restricted mobility,
Patterns of Human
characteristic vertebral changes, arthritic Malformation. 5th
complaints in female carriers.
Edition pag. 378
sex reversal 46,XY female, without
306100
secondary sexual characteristics at
puberty, amenorrhea, streak gonads,
gonadal calcification, presence of small
uterus and falloppian tubes;
gonadoblastoma tendency, no Turner
appearance.
313900
only affected male, with hemorrhagic
diathesis, due to essential
thrombocytopenia, occasionally
tendency to infections and eczema.
309585
mental retardation, obesity,
gynecomastia, speech difficulties, other
clinical findings.
301000
defective T-lymphocyte activation.
Eczema, megakaryocytic
600903
thrombocytopenia, recurrent infections,
Am.J.Hum.Genet.57,A
diarrhea, dysgammaglobulinemia.
98 only,1995
277970
marfanoid habitus, scoliosis,
arachnodactyly, mild mental retardation,
other clinical data. Carrier females
clinically normal.
chromosome Xq localization
achromatopsia incomplete
X-linked recessive
adrenoleukodystrophy X-linked
X-linked recessive
adrenomyeloneuropathy
X-linked recessive
agammaglobulinemia Bruton
type
X-linked recessive
agammaglobulinemia Swiss
type
autosomal recessive
genetic heterogeneity
X-linked recessive
X-linked recessive
albinism deafness X-linked
syndrome
alpha-thalassemia/mental
retardation syndrome
Genus Clinical Database
contiguous genes
supposed X-linked recessive
color confusions of shades of red, grey,
bluish, blue-green. Eye isolated anomaly.
spastic paraplegia, hyperactivity,
seizures, impaired vision, optic atrophy,
dementia, psychosis, ataxia, impotence,
pigmentation, thin/sparse hair,
hypoglycemia, high levels of very-longchain fatty acids (doubt on the reliability
of cultured CVS cell), impaired auditory
discrimination.
milder form of adrenoleukodystrophy
with later onset and slow progression.
early recurrent severe infections in
males, tonsillar/adenoid tissues defect,
periodic neutropenia, low levels of
immunoglobulins, absence of Blymphocytes.
lymphocytopenia, thymus atrophy, lack
of delayed hypersensitivity, severe
viral/fungal/bacterial infections.
303700
profound deafness, piebald trait without
ocular albinism.
300700
300100
300100
300300
300400
mental retardation associated with alpha- 301040
thalassemia.
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 278
chromosome Xq localization
106 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Alport syndrome autosomal
dominant
autosomal dominant
autosomal recessive
genetic heterogeneity
X-linked recessive
Alport-leiomyomatosis
syndrome
supposed autosomal dominant sexlimited, sex influence
supposed contiguous genes
X-linked dominant
hematuria, proteinuria with uncostant
renal failure, ocular defects including
anterior lenticonus, high-tone
sensorineural deafness, other clinical
findings.
sensorineural deafness, hematuria,
proteinuria, ocular changes including
anterior lenticonus, diffuse
leiomyomatosis involving esophagus,
genital and thoracal structures.
amelogenesis imperfecta-3
X-linked dominant
anophthalmos X-linked
X-linked recessive
Arts syndrome
X-linked recessive
ataxia spinocerebellar-anemia
sideroblastic
supposed contiguous genes
supposed X-linked recessive
supposed X-linked recessive
ataxia-dementia
enamel hypomaturation inducing
amelogenesis imperfecta resembling
AIH1 type.
anophthalmos, ankyloblepharon, mental
retardation, preauricular tags, cleft
palate.
ataxia, optic atrophy, deafness,
recurrent respiratory infections, early
childhood death.
first year onset; hypochromic microcytic
anemia, ataxia.
delayed walking, ataxia, tremor,
nystagmus, adult onset dementia.
early infancy onset; multiple ice-pick
marks, follicular atrophoderma,
hypotrichosis, followed by basal cell
carcinoma.
severe mental retardation, epilepsy,
hypogonadism, obesity, microcephaly,
coarse facial features, ocular-skeletal
anomalies.
Bibliography[OMIM]:
104200
308940
303631
Am.J.Kidney
Dis.22(5),641648,1993
301201
301590
301835
301310
301840
Bazex syndrome
genetic heterogeneity
supposed autosomal dominant
supposed X-linked recessive
Borjeson syndrome
X-linked recessive
cardiomyopathy dilated-3A
X-linked recessive
severe infantile dilated cardiomyopathy.
Charcot Marie Tooth
neuropathy X-linked 1 and 3
X-linked dominant
Charcot-Marie-Tooth
neuropathy deafness-mental
retardation syndrome
supposed contiguous genes
X-linked recessive
302800
ambulation disability due to slowly
progressive peroneal muscle weakness
and wasting, pes cavus, scoliosis,
difficulties in walking,foot drop and
steppage gait, atrophy of the small
muscle hands, occasionally upper
extremity tremor.
infancy onset; males with severe muscle 310490
weakness,deafness, mental retardation.
Charcot-Marie-Tooth
neuropathy X-linked 1
X-linked dominant
peroneal muscle weakness/atrophy, pes 302800
cavus, scoliosis.
chondrodysplasia punctata Xlinked dominant
X-dominant lethal in male
X-linked dominant
choroideremia
X-linked recessive
possible lethality in hemizygous male;
female with asymmetric shortening,
saddle nose, ichthyosis, cataract,
kyphoscoliosis, contractures,
asymmetric punctate calcifications
disappearing in infancy; occasionally
polydactyly.
choroidal sclerosis, central vision
reduction, night blindness. Eye isolated
anomalies.
Christian-DeMyer-Franken
syndrome
supposed X-linked recessive
cleft palate X-linked
X-linked recessive
Genus Clinical Database
short stature, prominent metopic suture,
cervical vertebral fusion, other skeletal
dysplasia, mental retardation,
strabismus, glucose intolerance.
cleft palate usually
incomplete/submucous; occasionally
bifid uvula in carrier females.
chromosome Xq localization
301845
301900
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 584
300069
302960
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 388
303100
Genetic Diseases of
the Eye. Ed. Elias I.
Traboulsi 1998 p.397
309620
303400
107 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
deafness perceptive type
X-linked recessive
deafness stapes fixation
anomaly
X-linked recessive
deuteranopia
X-linked recessive
congenital deafness perceptive type,
mental retardation.
conductive hearing loss, vestibular
disturbance, fixed stapes footplate,
abnormal patency of the cochlear
aqueduct.
normal visual acuity, with chromatic
discrimination loss. Eye isolated
anomaly.
polyuria, polydipsia, low urine
osmolarity, dehydration, secondary
mental retardation, growth defect,
ineffective vasopressin administration.
fatal infectious, mononucleosis following
infection with Epstein-Barr virus,
inducing lymphoproliferative syndrome,
lymphadenomegaly,
hepatosplenomegaly, acquired
hypogammaglobulinemia, B-cell
lymphoma.
nail dystrophy, skin depigmentation,
hyperkeratosis, oral leukoplakia
pancytopenia, mental retardation, other
clinical data.
diabetes insipidus nephrogenic genetic heterogeneity
I
X-linked recessive
Duncan disease
genetic heterogeneity
X-linked recessive
dyskeratosis congenita
genetic heterogeneity
supposed autosomal recessive
X-linked recessive
ectodermal dysplasia,
anhidrotic
autosomal recessive
genetic heterogeneity
X-linked recessive
hypo-anhidrosis, hypodontia, corneal
clouding, hypotrichosis, frontal bossing,
protruding lips, dry periorbital skin.
Ehlers-Danlos IX
supposed X-linked recessive
Fabry disease
X-linked recessive
favism
supposed autosomal dominant
FG syndrome
X-linked recessive
fibroelastosis endocardial left
ventricle
supposed X-linked recessive
Fleisher syndrome
contiguous genes
X-linked recessive
glucose-6-phosphate
dehydrogenase deficiency
X-linked recessive
skin laxity, digits hyperextensibility,
occiput protuberance characterized by
symmetrical bony horns on each side of
the foramen magnum, pointing caudad;
bladder diverticula, frequent loose stool,
copper and ceruloplasmin high levels.
male with dark, nodular angiectases in
clusters, acroparesthesias, fever
rheumatic-like, corneal opacities, optic
atrophy, neuro-cardio-renal failure,
orthostatic hypotension.
hemolytic anemia following ingestion of
the bean of Vicia fava or exposure to its
pollen, due to erythrocyte G6PD
deficiency.
postnatal growth failure, macrocephaly,
typical dysmorphism, tall/broad
forehead, upsweep frontal hair,
contractures, seizures, severe
constipation, imperforate anus,
hypotonia, corpus callosum partial
agenesis.
diffuse thickening of the left ventricular
endocardium inducing myocardial
contractility reduction, mitral
regurgitation, pulmonic hypertension
without cardiomegaly.
short stature, retarded bone age,
delayed puberty, recurrent infections,
immunoglobulin/B cells deficiency.
episodic/nonremitting hemolytic anemia,
hemoglobinuria, jaundice, following
ingestion or exposure to hemolytic
agents, such as oxidant drugs,
chemicals infections, favism.
Genus Clinical Database
chromosome Xq localization
Bibliography[OMIM]:
304500
304400
303800
304800
308240
305000
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 538
305100
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 540
304150
301500
134700
305450
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 280
305300
307200
305900
108 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
glycogenosis muscle X-linked
X-linked recessive
Golabi-Rosen syndrome
X-linked recessive
Gustavson syndrome
X-linked recessive
hemophilia A
genetic heterogeneity
supposed autosomal dominant
X-linked recessive
hemophilia B
X-linked recessive
hydrocephalus X-linked
autosomal recessive
genetic heterogeneity
X-linked recessive
late onset; distal weakness, cramps on
exertion, high serum CK, low muscle
PHK activity, normal enzyme activity in
the liver.
males infant pre-postnatal overgrowth,
microcephaly usually without mental
retardation, hypertelorism, macrostomia,
large lower lip, tongue, midline groove,
inguinal hernia, cryptorchidism, other
defects.
severe mental retardation, oprtic
atrophy, seizures, hearing defect.
hemorrhages into joints/muscles,
inducing arthropathy/muscular fibrosis,
frequent oral hemorrhages, occasionally
central nervous system hemorrhages,
due to Factor VIII deficiency.
hemorrhages into joints/muscles,
inducing arthropathy/muscular fibrosis,
frequent oral hemorrhages, occasionally
central nervous system hemorrhages,
due to Factor IX deficiency.
hydrocephalus, mental retardation,
spasticity, adducted thumb, other neural
defects, optic atrophy. Can be present,
within the same family, syndromes
including upon the acronym CRASH.
Rare autosomal recessive form of this
abnormality has been described.
hypertrichosis generalized Xlinked
X-linked dominant
hypoparathyroidism X-linked
autosomal recessive
genetic heterogeneity
X-linked recessive
X-linked recessive
immunodeficiency with
increased IgM
incontinentia pigmenti II
X-dominant lethal in male
Juberg-Marsidi syndrome
X-linked recessive
Kelley-Seegmiller syndrome
X-linked recessive
Lesch-Nyhan syndrome
X-linked recessive
Genus Clinical Database
Bibliography[OMIM]:
311870
312870
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 168
309555
306700
306900
307000
308840
Prenat.Diagn.19,10671069
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 188
307150
congenital excessive hair, covering
severely the body, especially
face/trunk/upper limbs, and sparing
palms/soles/mucous membranes.
307700
convulsions, neuromuscular irritability,
tetany, spasms, hyperreflexia, oro-ocular
defects including cataract.
infancy onset; recurrent severe
bacterial/monilial infections, enlarged
tonsils/spleen/lymphnodes, arthritis,
nephritis, other clinical findings,
lymphoma tendency, absent IgG and
IgA with elevated IgM levels.
typical signs of incontinentia pigmenti
due to gene located in the Xq28 band,
inducing ocular/neurovisceral defects.
Occasionally development of
retinoblastoma, paratesticular
rabdomyosarcoma, acute leukemia,
Wilms tumor, rabdoid renal tumors.
prenatal growth deficiency, growth/bone
age/mental retardation, deafness,
dysmorphism, saddle nose, hyperfolded
ears, hypogenitalism, ocular defects.
uric acid overproduction, gout,
urolithiasis, occasionally mild neurologic
disorders; partial deficiency of HPRT.
clinically normal at birth; progressive
choreoathetosis, spastic cerebral palsy,
mental retardation, bizarre aggressive
behaviour, self-mutilations, usually by
biting, hyperuricemia, gout, urinary tract
stones.
chromosome Xq localization
308230
308310
309590
Proc Natl Acad Sci
USA 57,1735,1967
308000
109 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
lissencephaly X-linked
X-linked dominant
Lowe syndrome
X-linked recessive
Lubs syndrome
X-linked recessive
manic-depressive psychosis 2
X-linked dominant
MASA syndrome
supposed X-linked recessive
undefinable
megalocornea
genetic heterogeneity
supposed autosomal recessive
X-linked recessive
Menkes syndrome
mitochondrial
X-linked recessive
mental retardation X-linked
FRAXE
genomic imprinting
X-linked recessive
mental retardation X-linked
Martin-Bell type
X-linked recessive
severe mental retardation, seizures,
corpus callosum agenesis, pachygiriaagyria.
male with growth failure, mental
retardation, ocular anomalies including
cataract, primary glaucoma, hypotonia,
acidosis, renal failure, rickets,
osteomalacia, cryptorchidism.
infertile 46,XY male, hypospadias,
hypogonadism, gynecomastia, testicular
histological changes resembling
Klinefelter syndrome. May be the same
of Rosewater, Gilbert-Dreyfus,
Reifenstein syndromes, or allelic forms
of the same disorder. Male-limited
inherritance.
elated/excited/irritable mood in manic
symptomatology; impaired thought
processes/disturbed thought, content
and perceptual processes/hallucinations
in schizophrenic disorders.
hyposomia, hyperlordosis, mental
retardation, shuffling gait, spasticity,
adducted thumbs due to hypoplasia
extensor pollicis muscles. Can be
present, within the same family,
syndromes including upon the acronym
CRASH.
symmetric, bilateral corneal diameter
increase, with normal endothelial cells,
occasionally presenile cataract. Eye
isolated anomaly.
male sex growth retardation, seizures,
coarse/colorless/sparse/friable hair, pili
torti, trichopoliodystrophy, cherubic
expressionless face, microcephaly,
spasticity, lethargy, nystagmus, bladder
diverticula, other neuro-visceral-skeletal
defects, low serrum
copper/ceruloplasmin.
mental retardation, macroorchidism,
other clinical features of X-linked mental
retardation syndromes.
macrocephaly, long face, large
prominent ears, macro-orchidia, mental
retardation, fingers hyperestention.
Potentially maternal imprinting.
mental retardation X-linked
muscular atrophy syndrome
X-linked recessive
mental retardation X-linked
nonspecific type 3
X-linked recessive
methylglutaconicaciduria II
mitochondrial
X-linked recessive
Miles-Carpenter mental
retardation syndrome
supposed X-linked recessive
mitral valve dysplasia X-linked
X-linked recessive
Genus Clinical Database
Bibliography[OMIM]:
300067
300121
309000
Prenat.Diagn.18,11171121, 1998
313700
300068
312100
309200
303350
308840
309300
309400
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 198
309548
309550
Prenat.Diagn.20,611614,2000
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 150
severe mental retardation, awkward gait, 309600
speech disability, unabitity to walk,
muscular atrophy.
mental retardation resembling Martin309541
Bell syndrome.
dilated cardiomyopathy, neutropenia,
skeletal myopathy, weakness, abnormal
mitochondria.
mental retardation, microcephaly,
exotropia, muscular hypotonia,
contractures, dermatoglyphic changes.
male affected by congenital heart
disease due to myxomatous valvular
dystrophy; aortic-tricuspid regurgitation;
secondary valvular calcifications.
chromosome Xq localization
302060
309605
314400
110 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
Mohr-Tranebjaerg syndrome
supposed X-linked recessive
3-5 year onset; progressive hearing loss
in males, myopia, decreased visual
acuity, mental retardation.
mucopolysaccharidosis II
X-linked recessive
muscular dystrophy DreifussEmery type
X-linked recessive
myopathy centronuclear Xlinked type
X-linked recessive
myopia X-linked
X-linked recessive
coarse facies, respiratory distress,
herniae, joint stiffness,
hepatosplenomegaly, skin
nodules/thickening, mental retardation,
ocular defects including atypical retinitis
pigmentosa.
first decade onset; progressive
humeroperoneal weakness, without
pseudohypertrophy; cardiomyopathy,
elbows/neck contractures.
severe respiratory distress, facial
diplegia, cataract, other ocular defects,
severe myopathy, weakness,
hydramnios.
myopia. Eye isolated anomaly.
otopalatodigital I syndrome
X-linked recessive
deafness, cleft palate, borad nasal root
with pugilistic appearance, wide toes
spacing resembling tree frog,
generalized bone dysplasia.
ovarian failure premature
genetic heterogeneity
supposed autosomal dominant
supposed X-linked dominant
ovarian failure premature 1
paraplegia spastic X-linked 1
supposed genetic heterogeneity
supposed X-linked dominant
supposed contiguous genes
X-linked recessive
X-linked recessive
menstrual irregolarities, followed by
premature ovarial failure, estrogen
deficiency, and high levels of
gonadotropin, with/without Xq deletion.
premature ovarian failure.
paraplegia spastic X-linked 2
X-linked recessive
parkinsonism Laxova-Brown
syndrome
supposed X-linked recessive
Pelizaeus-Merzbacher
syndrome 1
X-linked recessive
Pelizaeus-Merzbacher-like
X-linked recessive
Pettigrew-Jackson-Ledbetter
syndrome
X-linked recessive
phosphoglycerate kinase
deficiency
genetic heterogeneity
supposed autosomal recessive
X-linked recessive
panhypopituitarism X-linked
Genus Clinical Database
Bibliography[OMIM]:
304700
Acta
Ophthalmol.Scand.74(
6),632-635,1996
309900
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 456
310300
310400
310460
311300
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 270
176440
311360
non dysmorphism, short stature due to
growth hormone deficiency.
312000
early onset slow progression of spastic
paraplegia, ocular/cerebellar
involvement, mild mental retardation.
Can be present, within the same family,
syndromes including upon the acronym
CRASH.
spastic gait, hyperreflexia, without
mental retardation/spinocerebellar signs.
early onset parkinsonism, seizures,
tremors, postural changes,
megalencephaly, no basal ganglia
calcification, shuffling gait, mental
retardation, no macroorchidism.
nystagmoid eye movements, head
jerking and rolling, ataxia, spasticity,
choreic movements, optic atrophy,
microcephaly, laryngeal stridor.
Commomnly, duplication in DNA which
contains the PLP gene.
nystagmoid eye movements, head
jerking and rolling, ataxia, spasticity,
choreic movements, optic atrophy,
laringeal stridor, microcephaly, no
proteolipid- protein defect.
severe mental retardation,
choreoathetosis, seizures, other signs of
basal ganglia involvement, iron
accumulation in the basal ganglia,
Dandy-Walker malformation.
in males chronic, nonspherocytic
hemolytic anemia, myopathy,
neurological disorders.
312900
308840
chromosome Xq localization
312920
311510
312080
Prenat.Diagn.19,266268,1999
311601
304340
311800
111 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
phosphoribosyl-pyrophosphate supposed X-linked dominant
synthetase overexpression 1
X-linked recessive
protanopia
X-linked recessive
situs inversus-heart defectssplenic defects
genetic heterogeneity
spinal muscular atrophy
Kennedy type
X-linked recessive
testicular feminization complete X-linked recessive
thoracoabdominal syndrome
X-linked dominant
thyroxine-binding globulin
defects
torsion dystonia X-linked
supposed X-linked dominant
X-linked recessive
X-linked recessive
torticollis Goeminne type
X-linked dominant
Wieacker syndrome
supposed X-linked recessive
Wood-Black-Norbury syndrome X-linked dominant
Synthesis:
severe phenotype in early onset; no
neurologic expressions in late onset.
Gout, due to PRPS overexpression,
deafness, neurologic involvement.
defect in screening red-green color. Eye
isolated anomaly.
primary defect in lateralization, leading
situs inversus, congenital heart defects,
polysplenia/asplenia, other clinical
findings.
juvenile onset; facial, bulbar, spinal, lateonset; proximal muscle atrophy with
fasiculations, cramps, tremor; sexual
dysfunction, impotence, decreased
fertility, gynecomastia.
sex reversal syndrome, inguinal herniae,
containing testes, in infant female
46,XY; absent/rudimentary uterus, blind
vagina, breast development/female fat
deposition, occurring before pubarche;
no menses, absent/scanty pubic and
axillary hair, peculiar laaboratory data;
breast cancer susceptibility.
anterior diaphragmatic and abdominal
wall hernia, diaphragmatic pericardium
defect, hypoplastic lung, cardiac
anomalies.
high/low levels of TBG or thyroxine,
without clinical disease.
Bibliography[OMIM]:
311850
303900
306955
313200
313700
300068
313850
314200
affected males, age onset third decade;
spasmodic eye blinking, parkinsonian
symptoms, accompanied or preceded by
dystonia.
torticollis, facial asymmetry,
plagiocephaly, periocular pigmentation,
keloids/nevi, pyelonephritis, duodenal
ulcer, infertility, cryptorchidism.
multiple contractures, motor speech
retardation, dysarthria, ptosis, other
ocular anomalies.
severe hypotonia in males resembling
"floppy baby", spastic paraplegia in
females, low birth weight, nightblindness.
314250
hematuria, proteinuria, renal failure,
ocular defects including anterior
lenticonus, high-tone sensorineural
deafness, other clinical findings.
301050
303630
abnormal behavior from early infancy,
lack of effective human contact.
bullae, alopecia, hyper-depigmentation,
acrocyanosis, short stature, mental
retardation.
diminished visual acuity. Eye isolated
anomaly.
209850
314300
314580
300076
600486
chromosome Xq22 localization
Alport syndrome X-linked
supposed contiguous genes
supposed X-linked recessive
chromosome Xq27 localization
autism infantile
autosomal recessive
bullous dystrophy macular type X-linked recessive
cone dystrophy X-linked, 2
Genus Clinical Database
X-linked recessive
chromosome Xq27 localization
302000
300085
Am.J.Hum.Genet.60,1
468-1473,1997
112 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
hemophilia B
X-linked recessive
hypoparathyroidism X-linked
Lesch-Nyhan syndrome
autosomal recessive
genetic heterogeneity
X-linked recessive
X-linked recessive
306900
hemorrhages into joints/muscles,
inducing arthropathy/muscular fibrosis,
frequent oral hemorrhages, occasionally
central nervous system hemorrhages,
due to Factor IX deficiency.
307700
convulsions, neuromuscular irritability,
tetany, spasms, hyperreflexia, oro-ocular
defects including cataract.
prostate cancer hereditary
autosomal dominant
schizophrenia-2
autosomal dominant
genetic heterogeneity
multifactorial
undefinable
clinically normal at birth; progressive
choreoathetosis, spastic cerebral palsy,
mental retardation, bizarre aggressive
behaviour, self-mutilations, usually by
biting, hyperuricemia, gout, urinary tract
stones.
early-onset prostate cancer.
young/adult age onset; psychotic
symptoms, hallucinations, personality
disorders.
Bibliography[OMIM]:
308000
176807
601518
600020
181500
chromosome Xq28 localization
achromatopsia incomplete
X-linked recessive
adrenoleukodystrophy X-linked
X-linked recessive
adrenomyeloneuropathy
X-linked recessive
anophthalmos X-linked
X-linked recessive
cardiomyopathy dilated-3A
X-linked recessive
chondrodysplasia punctata Xlinked dominant
X-dominant lethal in male
X-linked dominant
Christian-DeMyer-Franken
syndrome
supposed X-linked recessive
deuteranopia
X-linked recessive
diabetes insipidus nephrogenic genetic heterogeneity
I
X-linked recessive
dyskeratosis congenita
Genus Clinical Database
genetic heterogeneity
supposed autosomal recessive
X-linked recessive
color confusions of shades of red, grey,
bluish, blue-green. Eye isolated anomaly.
spastic paraplegia, hyperactivity,
seizures, impaired vision, optic atrophy,
dementia, psychosis, ataxia, impotence,
pigmentation, thin/sparse hair,
hypoglycemia, high levels of very-longchain fatty acids (doubt on the reliability
of cultured CVS cell), impaired auditory
discrimination.
milder form of adrenoleukodystrophy
with later onset and slow progression.
anophthalmos, ankyloblepharon, mental
retardation, preauricular tags, cleft
palate.
severe infantile dilated cardiomyopathy.
303700
possible lethality in hemizygous male;
female with asymmetric shortening,
saddle nose, ichthyosis, cataract,
kyphoscoliosis, contractures,
asymmetric punctate calcifications
disappearing in infancy; occasionally
polydactyly.
short stature, prominent metopic suture,
cervical vertebral fusion, other skeletal
dysplasia, mental retardation,
strabismus, glucose intolerance.
normal visual acuity, with chromatic
discrimination loss. Eye isolated
anomaly.
polyuria, polydipsia, low urine
osmolarity, dehydration, secondary
mental retardation, growth defect,
ineffective vasopressin administration.
nail dystrophy, skin depigmentation,
hyperkeratosis, oral leukoplakia
pancytopenia, mental retardation, other
clinical data.
302960
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 388
chromosome Xq28 localization
300100
300100
301590
300069
309620
303800
304800
305000
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 538
113 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
glucose-6-phosphate
dehydrogenase deficiency
X-linked recessive
hemophilia A
genetic heterogeneity
supposed autosomal dominant
X-linked recessive
hydrocephalus X-linked
autosomal recessive
genetic heterogeneity
X-linked recessive
episodic/nonremitting hemolytic anemia,
hemoglobinuria, jaundice, following
ingestion or exposure to hemolytic
agents, such as oxidant drugs,
chemicals infections, favism.
hemorrhages into joints/muscles,
inducing arthropathy/muscular fibrosis,
frequent oral hemorrhages, occasionally
central nervous system hemorrhages,
due to Factor VIII deficiency.
hydrocephalus, mental retardation,
spasticity, adducted thumb, other neural
defects, optic atrophy. Can be present,
within the same family, syndromes
including upon the acronym CRASH.
Rare autosomal recessive form of this
abnormality has been described.
incontinentia pigmenti II
X-dominant lethal in male
Juberg-Marsidi syndrome
X-linked recessive
manic-depressive psychosis 2
X-linked dominant
MASA syndrome
supposed X-linked recessive
undefinable
mental retardation X-linked
FRAXE
genomic imprinting
X-linked recessive
mental retardation X-linked
FRAXF
X-linked recessive
mental retardation X-linked
Martin-Bell type
X-linked recessive
macrocephaly, long face, large
prominent ears, macro-orchidia, mental
retardation, fingers hyperestention.
Potentially maternal imprinting.
mental retardation X-linked
nonspecific type 3
X-linked recessive
mental retardation resembling MartinBell syndrome.
mental retardation X-linked
type 41
X-linked recessive
nonspecific mental retardation
methylglutaconicaciduria II
mitochondrial
X-linked recessive
dilated cardiomyopathy, neutropenia,
skeletal myopathy, weakness, abnormal
mitochondria.
Genus Clinical Database
typical signs of incontinentia pigmenti
due to gene located in the Xq28 band,
inducing ocular/neurovisceral defects.
Occasionally development of
retinoblastoma, paratesticular
rabdomyosarcoma, acute leukemia,
Wilms tumor, rabdoid renal tumors.
prenatal growth deficiency, growth/bone
age/mental retardation, deafness,
dysmorphism, saddle nose, hyperfolded
ears, hypogenitalism, ocular defects.
elated/excited/irritable mood in manic
symptomatology; impaired thought
processes/disturbed thought, content
and perceptual processes/hallucinations
in schizophrenic disorders.
hyposomia, hyperlordosis, mental
retardation, shuffling gait, spasticity,
adducted thumbs due to hypoplasia
extensor pollicis muscles. Can be
present, within the same family,
syndromes including upon the acronym
CRASH.
mental retardation, macroorchidism,
other clinical features of X-linked mental
retardation syndromes.
mental retardation, macroorchidism,
other clinical features of X-linked mental
retardation syndromes.
chromosome Xq28 localization
Bibliography[OMIM]:
305900
306700
307000
308840
Prenat.Diagn.19,10671069
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 188
308310
309590
309200
303350
308840
309548
300031
Hum.Molec.Genet.2,19
7-200,1993
309550
Prenat.Diagn.20,611614,2000
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 150
309541
300104
Nature Genet. 19,134139,1998
309541
302060
114 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
mitral valve dysplasia X-linked
X-linked recessive
314400
mucopolysaccharidosis II
X-linked recessive
muscular dystrophy DreifussEmery type
X-linked recessive
myopathy centronuclear Xlinked type
X-linked recessive
male affected by congenital heart
disease due to myxomatous valvular
dystrophy; aortic-tricuspid regurgitation;
secondary valvular calcifications.
coarse facies, respiratory distress,
herniae, joint stiffness,
hepatosplenomegaly, skin
nodules/thickening, mental retardation,
ocular defects including atypical retinitis
pigmentosa.
first decade onset; progressive
humeroperoneal weakness, without
pseudohypertrophy; cardiomyopathy,
elbows/neck contractures.
severe respiratory distress, facial
diplegia, cataract, other ocular defects,
severe myopathy, weakness,
hydramnios.
progressive muscle weakness,involving
the legs without cardiac or neural
disturbance, high serum creatine
kinaselevels, characteristic autophagic
vacuoles.
myopia. Eye isolated anomaly.
311300
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 270
312900
308840
myopathy excessive autophagy X-linked recessive
myopia X-linked
X-linked recessive
otopalatodigital I syndrome
X-linked recessive
deafness, cleft palate, borad nasal root
with pugilistic appearance, wide toes
spacing resembling tree frog,
generalized bone dysplasia.
paraplegia spastic X-linked 1
X-linked recessive
paraplegia spastic X-linked 2
X-linked recessive
parkinsonism Laxova-Brown
syndrome
supposed X-linked recessive
early onset slow progression of spastic
paraplegia, ocular/cerebellar
involvement, mild mental retardation.
Can be present, within the same family,
syndromes including upon the acronym
CRASH.
spastic gait, hyperreflexia, without
mental retardation/spinocerebellar signs.
early onset parkinsonism, seizures,
tremors, postural changes,
megalencephaly, no basal ganglia
calcification, shuffling gait, mental
retardation, no macroorchidism.
epileptic seizures, multiple bilateral
subependymal nodules diagnosed on
MRI. Most patients are female. Males
with BPNH are rare and may present
mental retardation and other anomalies.
severe mental retardation,
choreoathetosis, seizures, other signs of
basal ganglia involvement, iron
accumulation in the basal ganglia,
Dandy-Walker malformation.
defect in screening red-green color. Eye
isolated anomaly.
only females, 1-2 years of age onset;
progressive dementia, autistic features,
acquired microcephaly, spasticity, loss
of purposeful hand use, ataxia,
tachypnea. Possible urea cycle defect.
Occasionally sudden death due to
cardiac dysfunction.
male affected, childhood/juvenile onset;
short trunk, platyspondyly, premature
osteoarthrosis, restricted mobility,
characteristic vertebral changes, arthritic
complaints in female carriers.
periventricular bilateral nodular X-dominant lethal in male
heterotopia
Pettigrew-Jackson-Ledbetter
syndrome
X-linked recessive
protanopia
X-linked recessive
Rett syndrome
sporadic
supposed X-linked dominant
spondyloepiphyseal dysplasia
tarda
genetic heterogeneity
supposed autosomal recessive
X-linked recessive
Genus Clinical Database
chromosome Xq28 localization
Bibliography[OMIM]:
309900
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 456
310300
310400
310440
310460
312920
311510
300049
304340
303900
312750
Neuropediatrics
30(3),146-148,1999
313400
Smith's Recognizable
Patterns of Human
Malformation. 5th
Edition pag. 378
115 of 116
12.2 Elenco delle malattie per distribuzione cromosomica
da Genus: Clinical Database for over 5,000 Genetic Disorders
Disorder:
Inheritance:
Synthesis:
X-linked dominant
torticollis, facial asymmetry,
plagiocephaly, periocular pigmentation,
keloids/nevi, pyelonephritis, duodenal
ulcer, infertility, cryptorchidism.
deafness neurosensory Xlinked 4
X-linked recessive
deafness, congenital neurosensorial with 300030
mild manifestation in carrier females.
male-determining factor defect
autosomal recessive
autosomal recessive
Swyer syndrome
supposed X-linked recessive
undefinable
sex reversal male 46,XX, resembling
Klinefelter syndrome. 46,XY karyotype
or Y-X translocation or Y-autosome
translocation.
sex reversal 46,XY female, without
secondary sexual characteristics at
puberty, amenorrhea, streak gonads,
gonadal calcification, presence of small
uterus and falloppian tubes;
gonadoblastoma tendency, no Turner
appearance.
torticollis Goeminne type
Bibliography[OMIM]:
314300
chromosome Yp localization
278850
306100
chromosome Yq localization
lissencephaly X-linked
X-linked dominant
Sertoli cell only defect
genetic heterogeneity
germinal mosaicism
sex-limited, sex influence
supposed X-linked recessive
supposed Y-limited
Genus Clinical Database
severe mental retardation, seizures,
corpus callosum agenesis, pachygiriaagyria.
infertile 46,XY male, with seminiferous
tubules lacking in spermatogonia,
normal secondary sexual development,
uncommon transitory pubertal
gynecomastia. Yq deletion. Male-limited
disease.
chromosome Yq localization
300067
300121
305700
400003
116 of 116