Flashcards: X-linked recessive disorders

Haemophilia B (or hemophilia B) is a blood clotting disorder caused by a mutation of the factor IX gene, leading to a deficiency of factor IX.

Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder that affects copper levels in the body, leading to copper deficiency.

X-linked ichthyosis (XLI) (also known as "Steroid sulfatase deficiency," and "X-linked recessive ichthyosis") (from the Ancient Greek 'ichthys' meaning 'fish') is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males.

Color blindness, also known as color vision deficiency, is the decreased ability to see color or differences in color.

X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity.

Haemophilia A is a genetic deficiency in clotting factor VIII, which causes increased bleeding and usually affects males.

X-linked agammaglobulinemia (also called X-linked hypogammaglobulinemia, XLA, Bruton type agammaglobulinemia, Bruton syndrome, or Sex-linked agammaglobulinemia) is a rare X-linked genetic disorder discovered in 1952 that affects the body's ability to fight infection.

Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia and areflexia, intellectual disability, proximal tubular acidosis, aminoaciduria, phosphaturia, and low-molecular-weight proteinuria.

Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia).

Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability of the cell to respond to androgens.

Fabry disease (/ˈfɑːbri/) (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum, and alpha-galactosidase A deficiency) is a rare genetic lysosomal storage disease, inherited in an X-linked manner.

Renpenning's syndrome is a neurodevelopmental disorder recognised in males that causes intellectual disability, mild growth retardation with examples in the testes and head, and a somewhat short stature.

Creatine transporter defect (CTD) is an X-linked disorder of creatine metabolism caused by defective transport of creatine into the brain.

XMEN disease is a rare genetic disorder of the immune system that illustrates the role of Mg2+ in cell signaling.

Becker muscular dystrophy is an X-linked recessive inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis.

Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans.

Smith–Fineman–Myers syndrome (SFMS1), also called X-linked mental retardation-hypotonic facies syndrome 1 (MRXHF1), Carpenter–Waziri syndrome, Chudley–Lowry syndrome, SFMS, Holmes–Gang syndrome and Juberg–Marsidi syndrome (JMS), is a rare X-linked recessive congenital disorder that causes birth defects.

Endocardial Fibroelastosis (EFE) is a rare heart disorder usually occurring in children two years old and younger.

X-linked intellectual disability (previously known as X-linked mental retardation) refers to forms of intellectual disability which are specifically associated with X-linked recessive inheritance.

X-linked spinal muscular atrophy type 2 (SMAX2, XLSMA), also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1), is a rare neurological disorder involving death of motor neurons in the anterior horn of spinal cord resulting in generalised muscle wasting (atrophy).

Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy.

Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes.

Occipital horn syndrome (OHS), formerly considered a variant of Ehlers-Danlos syndrome, is an X-linked recessive connective tissue disorder.

Norrie disease is a genetic disorder that primarily affects the eye and almost always leads to blindness.

Ocular albinism type 1 (OA1), also called Nettleship–Falls syndrome, is the most common type of ocular albinism, with a prevalence rate of 1:50,000.

Adrenoleukodystrophy (/-ˌlu-koʊ-ˈdis-trə-fiː/; also known as X-linked adrenoleukodystrophy, ALD, X-ALD, Siemerling–Creutzfeldt disease or bronze Schilder disease) is a disease that is linked on the X chromosome.

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare multisystem X-linked recessive disorder characterized by excessively short telomeres and is considered a severe form of dyskeratosis congenita.

Nasodigitoacoustic syndrome, also called Keipert syndrome, is a rare congenital syndrome first described by J.

McLeod syndrome (or McLeod phenomenon; /məˈklaʊd/) is an X-linked recessive genetic disorder that may affect the blood, brain, peripheral nerves, muscle, and heart.

Pelizaeus–Merzbacher disease (PMD) is a rare central nervous system disorder in which coordination, motor abilities, and intellectual function are delayed to variable extents.

FG syndrome (FGS; also known as Opitz–Kaveggia syndrome) is a rare genetic syndrome caused by one or more recessive genes located on the X chromosome and causing physical anomalies and developmental delays.

MASA syndrome, also called CRASH syndrome and Gareis-Mason syndrome, is a rare X-linked recessive neurological disorder.

Simpson–Golabi–Behmel syndrome (SGBS), also called Bulldog syndrome, Sara Agers syndrome, Golabi–Rosen syndrome, Simpson dysmorphia syndrome (SDYS) or X-linked dysplasia gigantism syndrome (DGSX), is a rare inherited congenital disorder that can cause craniofacial, skeletal, cardiac, and renal abnormalities.