Boli Congenitale Canine si Rasele Predilecte
1. Aberrant cilia:
eyelashes growing abnormally, such as rubbing against the eyeball (see #88).
2. Abnormal copper metabolism:
(usually Bedlington terriers or Doberman pinschers) an inability to utilize and
store copper properly, resulting in liver disease and other problems.
3. Abnormal dentition:
abnormal placement, number and development of teeth.
4. Acanthosis nigricans:
(usually dachshunds) a skin disease where the skin becomes thickened and
dark, primarily affecting the axillae (armpits).
5. Achondroplasia:
abnormal development of cartilage leading to dwarfism (seen aberrantly in
most breeds, but that's what makes a Basset hound and other achondroplastic
breeds long and low).
6. Acne:
same thing as in humans, affects the muzzle and lip areas.
7. Acral lick dermatitis:
a skin disease caused by an animal's licking a localized area excessively,
especially on the legs and paws.
8. Acral mutilation:
a progressive self-mutilation of the feet and legs. Also known as peripheral
sensory neuropathy in pointing breeds because they are born without pain
sensation.
9. Acute moist dermatitis:
known as "hot spots," a localized area of a severely itchy, inflamed and oozing
dermatitis exacerbated by the animal's intense licking and chewing at the spot.
9a. Addison's disease (hypoadrenocorticism):
a disease characterized by inadequate secretion of cortisone from the adrenal
glands. More common in Old English sheepdogs, standard poodles and bearded
collies. (See #159a.)
10. Allergies:
same as in humans. Dogs can be allergic to things they come in contact with,
eat or inhale.
11. Amyloidosis:
a condition where abnormal deposits of proteinaceous material called amyloid
are laid down in tissues and impair their function. Common in Akitas and
Chinese shar peis.
12. Anasarca:
a condition where neonatal puppies have an abnormal accumulation of fluids
in their tissues. Often seen in English bulldogs.
13. Anemia with chondrodysplasia:
a condition of Alaskan malamutes where there is malformation and
maldevelopment of cartilage and red blood cells. Also called stomatocytosis
because of the mouth-like shape of red blood cells.
14. Anesthetic idiosyncracy:
a condition where an individual has an abnormal response to commonly used
anesthetics sometimes leading to death. Idiosyncratic means there is no good
explanation or way to predict this.
15. Anomaly of third cervical vertebra:
a malformation of one of the neck bones in the spinal column.
16. Anophthalmia:
a condition where an animal is born without any eyes.
17. Aortic body tumors:
a cancer that arises from a small organ at the base of the aorta, near the heart.
18. Apocrine gland tumor:
a cancer arising from glands which secrete fluids (such as mammary glands).
19. Arteriovenous fistula:
an abnormal connection that forms between arteries and veins.
20. Ataxia:
(see #255) and (see #288).
21. Atopic dermatitis:
a skin disease caused by a dog's reaction to an inhalant allergy. (see #81)
22. Atopy:
an allergy caused from things dogs inhale.
23. Atresia of nasolacrimal puncta:
a condition where the holes on the inside of the lower eyelids (puncta) are too
small or closed so tears spill over the lid instead of draining to the nose.
24. Atrial septal defects:
a malformation of the dividing wall between two chambers of the heart,
usually resulting in a hole which then causes blood flow abnormalities.
25. Avulsion fractures:
fractures of the bones caused by a piece being ripped away, usually because of
its strong attachment to a ligament or tendon.
Basal cell tumor:
a cancer arising from a type of skin cell.
27. Behavioral abnormalities:
a whole range of abnormal behavior patterns, such as aggression, panic
disorders, etc.
28. Bithoracic ectromelia:
a condition where the front leg bones are very small or absent.
29. Blepharospasm:
an abnormal tightening of the muscles around the eyes, which causes
repetitive blinking.
30. Blindness:
an inability to see due to a large variety of causes.
31. Bloat:
a condition where a dog's stomach produces excessive gas and enlarges
severely enough to cause death without immediate treatment. Usually
associated with gastric torsion. (see #131).
32. Blue eyes:
an adverse reaction to certain vaccines containing canine hepatitis virus
(adenovirus 1) which produces a bluish discoloration to the cornea.
33. Bullous pemphigoid:
an autoimmune (i.e., the body attacking itself) disease associated with the
formation of painful blisters.
34. Bundle branch block:
an abnormality of the electrical conduction mechanism of the heart.
35. Bundle of His degeneration:
a condition where a part of the electrical system of the heart deteriorates.
36. Calcinosis circumscripta:
the development of lumps of hard calcium deposits in the skin.
37. Cancer, bladder:
as in humans, cancer arising from the bladder.
37a. Cardiac valvular disease:
weakness of heart valves producing heart murmurs and leading to cardiac
failure. Prevalent in Cavalier King Charles spaniels.
38. Cardiomyopathy:
a disease of weakened heart muscles. Common in giant breeds, boxers,
Doberman pinschers.
39. Carotid body tumors:
cancer arising from a small organ located on the carotid in the neck.
40. Carpal subluxation:
a condition where the "wrist" bones are loose and out of alignment.
41. Castration responsive dermatosis:
a skin condition characterized by loss of hair, thickened skin and inflammation
which responds to castration (i.e., hormonally dependent).
42. Cataract:
as in humans, a change in structure of the lens of the eye leading to cloudiness
and usually to blindness.
43. Cataract with microphthalmia:
a condition where a dog has cataracts along with abnormally small eyes.
43a. Cell-mediated immunodeficiency:
a deficiency of t-lymphocyte function causing impaired immunity, chronic
recurrent infections and stunted growth. Seen in Weimaraners and
Dachshunds. (see #311b).
44. Cellulitis (folliculitis and furunculosis):
inflammation and infection of the cells of the skin including the hair follicles
and deeper structures.
45. Cerebellar cortical abiotrophy:
malformation of the neurons in the cerebellum, a part of the brain.
46. Cerebellar degeneration:
a condition where a part of the brain deteriorates.
47. Cerebellar and extrapyramidal abiotrophy:
a condition where the neurons in the cerebellum part of the brain and parts of
the spinal cord are malformed and eventually malfunction.
48. Cerebellar hypoplasia:
a condition where the cerebellum, a part of the brain, is poorly formed (too
small or absent) and doesn't function properly or at all.
49. Cerebrospinal demyelination:
a condition where the neurons of the brain and spinal cord are malformed,
lacking a specialized sheath, which causes malfunction.
50. Cervical disc disease:
a degeneration or malformation of the cushioning discs between the spinal
column bones (vertebrae) in the neck.
51. Cervical vertebral malformation or instability:
a malformation of the vertebrae in the neck usually leading to nerve damage.
Commonly seen in Doberman pinschers and causes a hackneyed gait (high
stepping).
52. Choroidal hypoplasia:
improper development of a part of the eye.
53. Ciliary dyskinesia:
congenital trait in several breeds where all ciliated cells (those with hairs or
moving appendages) are deformed and rigid. Also called immotile cilia
syndrome and Kartagener's syndrome. Causes chronic pneumonia and sterility.
Common in bichon frise and Doberman pinschers.
54. Cleft lip:
a condition where the two halves of the upper lip do not join together. Cleft
palate and cleft lip are often seen together.
55. Cleft palate:
a condition where the roof of the mouth is not closed and the inside of the
nose opens into the mouth.
56. Coliform enteritis:
an inflammation of the bowel tract caused by a certain group of bacteria.
57. Collapsed trachea:
a condition where the cartilage rings that make up the trachea are malformed
and tend to collapse easily.
58. Collie eye anomaly:
a condition of collie dogs where the narrow shape of the head causes the eyes
to be malformed.
59. Coloboma:
an abnormal development of the eye, usually seen in collies, which can lead to
blindness. (see #203).
60. Colobomas with aphakia:
same as above but with congenital absence of the lens.
61. Color mutant alopecia:
a condition where certain colored areas of a dog's skin grows less or no fur.
Commonly seen in Yorkshire terriers, blue Doberman pinschers and fawn Irish
setters.
61a. Combined immunodeficiency:
a severe combined deficiency of cell-mediated immunity (T-cell function) and
low levels of serum immunoglobulins (IgA, IgG, and variably IgM). Affected
puppies usually die from viral infectins by 12-16 weeks of age. Seen in Basset
hounds. (see #168). (see #169). (see #170).
61b. Complement deficiency:
a deficiency in serum levels of the third component of complement which
impairs neutrophil function and causes recurrent infections. Seen in Brittany
spaniels.
62. Conjunctivitis:
an inflammation of the conjunctival membrane of the eye.
63. Conus septal defect:
a developmental abnormality of the right ventricle of the heart.
64. Copper storage abnormalityin liver:
(see #2).
65. Corneal dystrophy:
an abnormality of the cornea usually characterized by shallow pits in the
surface.
66. Corneal leukomas:
an abnormal accumulation of a white material in or on the cornea.
67. Corneal ulcer, superficial:
an erosion of the outer membrane and outer surface of the cornea.
68. Craniomandibular osteopathy:
an abnormal development of the bones of the face and the jaw. Seen in West
Highland white and Cairn terriers, among other breeds.
69. Cranioschisis:
abnormal development of the skull characterized by openings between or in
the bones.
70. Cryptorchidism:
a condition where one testicle does not descend into the scrotal sac.
71. Cushing's disease (hyperadrenocorticism):
a disease characterized by an excess secretion of cortisosteroids from the
adrenal glands. (see #156).
72. Cutaneous asthenia:
a condition where the skin lacks its normal strength, elasticity and sensation.
Also called Ehlers-Danlos syndrome. Seen in several breeds, including English
springer spaniels and boxers. (see #94a).
72a. Cutaneous vasculopathy:
a disease of autosomal recessive inheritance in which young puppies exhibit
footpad swelling and depigmentation, with crusting and ulceration of the tips
of ears and tail. Seen in German shepherd dogs.
73. Cyclic neutropenia:
a condition characterized by periodic lowering of neutrophils, a type of white
blood cell. Commonly seen in grey collies.
74. Cystic ovaries:
a condition where the ovarian follicles become cyctic (fluid filled) leading to
hormonal imbalances and other problems.
75. Cystinuria:
an abnormal excretion of a substance (cystine) in the urine.
76. Cystitis and cystic calculi:
infection of the bladder which often leads to formation of abnormal mineral
deposits (bladder stones).
77. Dacrocystitis:
inflammation of a tear sac.
78. Deafness:
an inability to hear, due to many different causes.
79. Deformed tail:
a congenital condiiton where the tail is malformed.
80. Demodicosis:
a kind of skin disease (mange) caused by microscopic Demodex canis mites
living within the skin layers and producing an immunodeficiency syndrome.
81. Dermatitis, atopic:
inflammation and subsequent infection of the skin due to atopy. (see #21).
(see #22).
82. Dermatomyositis:
a disease affecting the skin and muscles, usually in collies or Shetland
sheepdogs.
83. Dermoid cyst:
a small growth composed of skin-like structures.
84. Dermoid sinus:
similar to a dermoid cyst but usually larger. Seen in Rhodesian ridgebacks.
85. Diabetes mellitus:
a metabolic disease caused by insulin deficiency and characterized by the
inability to utilize sugars normally.
85a. Digital hyperkeratosis:
a condition of Irish Terrier puppies that causes marked thickening of the foot
pads. Affected feet crack, become infected and painful.
86. Discoid lupus erythematosus:
a form of autoimmune disease affecting the skin.
87. Dislocation of shoulder:
a condition where the bones of the shoulder joint are out of proper position.
88. Distichiasis:
abnormally growing eyelashes.
89. Dwarfism:
an abnormality of the normal growth pattern resulting in an undersized
individual.
90. Dystocia:
complications of the birth process (difficult birth).
91. Eclampsia:
convulsions usually seen around the time of parturition (whelping).
92. Ectodermal defects:
any of a multitude of abnormalities arising from maldevelopment of the fetal
ectoderm (e.g., skin, nervous system, eyes).
93. Ectopic ureters:
the ureters (tubes leading from the kidneys to the bladder) do not empty into
the bladder in the normal location.
94. Ectropion:
an abnormal rolling out of the eyelids.
94a. Ehlers-Danlos syndrome:
a connective tissue disease characterized by loose, hyperextensible and very
fragile skin that tears easily. (see #72).
95. Elbow dysplasia:
an abnormal development of the elbow joint.
96. Elbow joint malformation:
(see #95).
97. Elbow subluxation:
a condition where the elbow joint is loose and out of alignment.
98. Elongated soft palate:
the soft palate is abnormally long and causes breathing disorders.
98a. Encephalitis:
an inflammatory condition of the brain causing signs of central nervous system
dysfunction and epilepsy (seizures). A unique form of encephalitis is prevalent
in the pug breed and is called "Pug Dog Encephalitis." (see #109).
99. Endocardial fibroelastosis:
an abnormal condition of scarring of the muscles of the heart.
100. Endometritis:
inflammation of the internal layer of the uterus.
101. Enlarged foramen magnum:
a condition in which the opening in the skull where the vertebral column
begins is too large.
102. Enostosis:
a bony growth within the hollow part of a bone.
103. Entropion:
an abnormal rolling in of the eyelid.
104. Eosinophilic granuloma:
an allergic reactive syndrome characterized by the plaque-like accumulation of
eosinophils, a type of white blood cell.
105. Eosinophilic panosteitis:
a painful inflammatory bone disease of young, rapidly growing dogs, often
characterized by increased eosinophils in the blood. (see #231).
106. Epidermal dysplasia:
abnormal development of the outer layer of the skin. Common in West
Highland white terriers and begins in puppyhood. (see #331).
107. Epidermoid cyst:
a small growth consisting of tissues of the outer layer of the skin (see #274).
108. Epidermolysis bullosa:
an abnormal looseness to the skin characterized by large, deep, blister-like
lesions.
109. Epilepsy:
a disease characterized by convulsions (seizures) and/or disturbances of
consciousness.
110. Epiphora:
abnormal draining of tears often due to overproduction.
111. Epiphyseal dysplasia:
abnormal development of the epiphysis, a part of the long bones.
112. Esophageal achalasia:
a functional stricture or spasm of the muscles of the esophagus where it joins
the stomach.
113. Esophageal dilatation:
an abnormally large and usually flaccid esophagus.
114. Eversion of nictitating membrane:
a condition where the third eyelid is protruding.
115. Eye abnormality:
any of a number of problems with the eye.
116. Facial fold dermatitis:
an infection of the facial skin caused by unusual or excessive skin folds (seen in
dogs such as the Pekingese or Chinese shar pei).
117. Facial nerve paralysis:
a decrease or cessation of function of the facial nerve leading to a drooping of
the affected side of the face.
118. Factor I deficiency or hypofibrinogenemia:
a rare deficiency of a clotting factor (fibrinogen), which causes excessive
bleeding.
119. Factor II deficiency or hypoprothrombinemia:
a rare deficiency of prothrombin, a clotting factor needed to control bleeding.
120. Factor VII deficiency:
a mild bleeding disease primarily of beagle dogs.
121. Factor VIII deficiency or hemophilia A:
the most common severe inherited clotting disorder of humans and
nonhuman animals. Inhereited as a sex-linked recessive trait (carried by
females and manifested in males). Affects most dog breeds.
122. Factor IX deficiency or hemophilia B:
same as hemophilia A, but more rare and involves a different clotting factor.
Affects about 20 dog breeds.
123. Factor X deficiency:
a rare clotting disorder primarily of American cocker spaniels. An autosomal
trait (affects both sexes).
124. Factor XI deficiency:
a rare clotting disorder of several dog breeds. Protracted bleeding from
surgical procedures is a feature. Affects both sexes.
124a. Factor XII deficiency:
a clotting factor deficiency that rarely produces clinical signs. Seen in toy and
standard poodles and occasionally in other breeds. Usually diagnosed
incidentally during blood testing for potential bleeding disorder.
124b. Familial amaurotic idiocy:
deposits of fatty pigments in the brain produce loss of vision, stuppor, and
seizures. Seen in English setters, German short-haired pointers, and Australian
cattle dogs. (see #177). (see #193a). (see #214).
124c. Fanconi syndrome:
a kidney tubular dysfunction of basenjis which leads to glycosuria (see #268).
125. Fibrosarcoma:
a cancer arising from certain types of fibrous cells.
126. Fibrous histiocytoma:
a type of fibrous tumor arising from cells called histiocytes.
127. Flank sucking:
a behavioral problem common in Doberman pinschers and exhibited as a
continually wet patch on the flank (from sucking the skin).
128. Fold dermatitis:
an inflammation of skin folds especially in dogs with loose skin (e.g., Chinese
shar pei).
129. Folliculitis:
an infection of the hair follicles.
129a. Fragmented coronoid process:
osteochondrosis of the elbow joint. (see #221a).
130. Furunculosis:
an infection of the deeper structures of the skin.
131. Gastric torsion:
a condition where the stomach twists, thereby impeding input and output.
(see #31).
132. Generalized myopathy:
a condition affecting all the muscles of the body which produces weakness.
133. Genu valgum:
malformation of the knee joint ("knock-kneed").
134. Gingival hyperplasia:
overgrowth of the gum tissues.
135. Glaucoma:
abnormally high pressure in the eye.
136. Globoid cell leukodystrophy:
abnormal development and/or function of certain types of white globoid cells
in the brain. (see #193a).
137. Glycogen storage disease:
a syndrome characterized by an inability to store and utilize carbohydrates.
(see #193a).
138. Goiter:
a swelling of the thyroid gland.
138a. Granulocyte dysfunctin or adhesion defect:
an impairment of neutrophil function or adhesion which causes chronic
recurring infections, stunted growth and secondary increase in immune
globulins (hypergammaglobulinemia). See in Irish setters and Doberman
pinschers.
139. Granulomatous colitis:
a type of chronic inflammation of the colon characterized by reactive tissue
growths.
140. Granulomatous sebaceous adenitis:
a disease of sebaceous (sweat) skin glands characterized by reactive tissue
growth and autoimmune destruction of the sebaceous glands. Hair loss occurs
and is poorly responsive to treatment. Common in Standard Poodles, Akitas,
Samoyed and Vizslas.
141. Hair follicle tumors:
abnormal growths of the hair follicles.
142. Hairlessness:
also called alopecia or loss of hair. Can be a normal pattern for breeds like the
Mexican hairless dog.
143. Hanging tongue:
a syndrome where the tongue does not retract into the mouth properly, due
to neurologic or anatomic defects. Commonly seen in Cavalier King Charles
spaniels.
143a. Hemangiosarcoma:
a cancer of blood vessels involving liver, spleen or skin.
144. Hemeralopia:
inability to see in daylight.
144a. Hemorrhagic gastroenteritis:
an acute disorder characterized by bloody diarrhea, elevated hematocrit and
shock. Common in miniature schnauzers.
145. Hemivertebra:
a particular kind of malformation of the vertebra where only half of the
structure is formed.
146. Hemolytic anemia:
anemia caused by the destruction of the red blood cells by an autoimmune
process. Particularly common in cocker spaniels and Old English sheepdogs, as
well as several other breeds.
147. Hemophilia A:
a blood clotting disorder due to deficiency of coagulation factor VIII (this is the
most common type of hemophilia in dogs). (see #121).
148. Hemophilia B:
a blood clotting disorder due to lack of coagulation factor IX. (see #122).
149. Hepatic portosystemic shunt or arteriovenous fistula:
a malformation of blood vessels in the liver or an abnormal communication
between the arteries and veins in the liver.
149a. Hepatic lipidosis:
an abnormal accumulation of lipids in the liver which leads to liver failure.
Common in miniature schnauzers and Shetland sheepdogs.
149b. Hereditary nephritis:
also called "Samoyed hereditary glomerulopathy," a sex-linked disease of
young males. Affected dogs have renal glomerular disease which rapidly
progresses to kidney failure and death. Female carriers have abnormal
glomerular basement membrane as well, but usually remain healthy until later
life when renal failure may occur.
149c. Hereditary spinal muscular atrophy:
an autosomal dominant degenerative disease of motor neurons characterized
by weakness and muscle atrophy with a typical gait, and progressing to
dangling of the head and a drooping, paralyzed tail. Severely affected dogs
become paralyzed and die by 3-4 months of age. Seen in Brittany spaniels.
149d. Hepatocerebellar degeneration:
a syndrome of progressive cerebellar and hepatic disease of 6-8 week old
Bernese mountain dogs with lesions of cerebellar abiotrophy and coexistant
hepatic lesions. Autosomal recessive inheritance.
150. Hermaphroditism:
a syndrome where the individual has anatomical features of both sexes.
151. Heterochromia, iris:
the presence of different colors in the same or both irises.
152. Hip dysplasia:
a developmental malformation or subluxation of the hip joints.
153. Histiocytoma:
a tumor composed of certain skin tissue cells (i.e., histiocytes).
154. Hydrocephalus:
a condition where there is an abnormal accumulation of fluid in the ventricles
of the brain.
155. Hygroma:
a fluid-filled sac usually occurring on the elbows of large breed dogs such as
the Great Dane or Irish wolfhound.
156. Hyperadrenocorticism or Cushing's disease:
a disease where the adrenal glands are overactive. (see #71).
157. Hypercholesterolemia:
a disease where the animal has too much cholesterol in the blood system.
Commonly associated with hypothyroidism.
158. Hypertrophic osteodystrophy:
a condition of rapidly growing giant breeds where there is an abnormal
inflammation of bones with pain and development of excessive bony growths.
159. Hypertrophy of nictitans gland:
a condition where the gland of the third eyelid is abnormally large.
159a. Hypoadrenocorticism:
a disease where autoimmune or other causes of destruction of the adrenal
glands produces a deficiency of corticosteroids. (see #9a).
160. Hypoglycemia:
a syndrome where the animal has an abnormally low blood glucose.
160a. Hypomyelinogenesis:
failure of the nervous system to form myelin, seen at birth.
161. Hypopigmentation, lips and nose:
a condition where an animal lacks pigment (color) in areas where it is usually
present. (see #328).
162. Hypoplasia of dens:
a condition where part of the second vetebra fails to develop fully and leads to
instability.
163. Hypoplasia of larynx:
a condition where the larynx (cartilage of the "voice box") fails to develop fully.
164. Hypoplasia of trachea:
a trachea that fails to develop fully.
165. Hyposomatotropism:
failure of the body growth hormones (somatomedins) to develop fully. Also
known as growth hormone- responsive dermatosis. Common in Pomeranians.
166. Hypothyroidism:
a common endocrine disease where the body produces an abnormally low
amount of thyroid hormones. An autoimmune destruction of the thyroid gland
which affects more than 50 dog breeds. (see #192). (see #312).
167. Hypotrichosis:
a condition where there is an abnormally small amount of hair growth.
168. Immunoglobulin A deficiency:
a condition where levels of secretory immune globulins are low. Common in
Chinese Shar-Peis and Beagles. (see #187).
169. Immunoglobulin G deficiency:
a condition where circulating antibody levels are low. Produces immune
deficiency and susceptibility to infections.
170. Immunoglobulin M deficiency:
a condition where antibodies produced in early stages of an immune response
are low, producing susceptibility to infection. Seen in Doberman pinschers.
171. Inguinal hernia:
a break in the muscular layer of the body wall occurring at the inguinal canal
(where the back leg meets the body).
172. Intestinal malabsorption:
a disease where the intestinal tract does not absorb nutrients properly. Also
known as protein- losing enteropathy as a consequence of inflamatory bowel
disease. In Irish setters there is also a wheat-sensitive enteropathy.
173. Intervertebral disc disease:
a disease where the discs between the vetebra are abnormal and prone to
rupture and misplacement.
174. Intussusception:
a serious condition where the intestinal tract telescopes in on itself.
175. Iris atrophy:
a condition where the iris (the colored part of the eye) shrinks and becomes
non-functional.
176. Iris heterochromia:
a condition where one iris is a different color from the other or has more than
one color to it.
177. Juvenile amaurotic idiocy:
a syndrome characterized by early onset blindness and low mental capacity.
178. Juvenile cellulitis:
an inflammation of cells (usually skin cells) occurring in the young animal.
179. Keratitis sicca:
a condition where one or both eyes do not produce a normal amount or type
of tears.
180. Keratoacanthoma:
a small growth, usually on the face, filled with keratin material.
181. Keratoconjunctivitis sicca:
(see #179).
182. Kidney aplasia, unilateral:
a developmental abnormality where one kidney fails to develop. Also called
renal agenesis.
183. Kinked tail:
a developmental abnormality where the tail has a pronounced kink.
184. Lacrimal duct atresia:
a condition where the duct draining tears from the eye is too small or not
formed.
185. Legg-Perthes disease:
a disease where the blood vessels feeding the femoral head (top part of the
thigh bone) shrink, leading to starvation and death of the femoral head (the
ball of the ball-and-socket joint of the hip). Also called Legg-Calve'- Perthes
disease.
186. Lens luxation:
a condition where the lens in the eye is displaced into an abnormal position.
187. Linear IgA dermatosis:
a type of skin disease resulting from an abnormality of the secretory immune
system. Common in Chinese Shar-Peis.
188. Lip fold dermatitis:
a skin infection caused by redundant skin folds around the mouth.
188a. Lipidosis:
a form of lysosomal storage disease where lipids accumulate in nerves. Called
GM-1 gangliosidosis in Portuguese water dogs. (see #193a).
189. Lissencephaly:
an abnormal brain development where the surface lacks gyri (the grooves).
190. Lung torsion:
a condition where one or more lung lobes twist upon themselves.
191. Lymphedema:
a disorder where valvular blockage of lymph flow or twisted lymphatic ducts
causes an acumulation of fluid to swell tissues with edema.
192. Lymphocytic thyroiditis:
an autoimmune disease causing inflammation and destruction of the thyroid
gland, which becomes infiltrated with lymphocytes (white blood cells) and
leads to hypothyroidism. This is the most comon endocrine disease of the dog
and has an inherited predisposition (see #166). (see #312).
193. Lymphosarcoma:
a cancerous condition involving the lymphatic system. One of the more
common canine cancers.
193a. Lysosomal storage diseases:
a group of progressive multifocal neurologic disorders caused by specific
enzyme deficiencies leading to death of nerve cells and accumulation of their
respective enzyme substrates in cells. (see #299a).
194. Malabsorption syndrome:
(see #172).
195. Malocclusion:
a condition where the teeth do not meet properly.
196. Mastocytoma:
a rare cancer developing from a type of tissue cell known as a mast cell.
197. Melanoma:
a rare cancer developing from the type of skin cell which produces pigment
(melanin).
198. Metabolic bone disease:
any of a number of diseases affecting the bones due to an abnormality of
metabolism.
199. Microphthalmia:
a condition where one or both eyes are too small.
200. Missing teeth:
a condition where there are too few teeth.
201. Mitral valve defects:
a group of abnormalities of the mitral valve of the heart.
202. Mononephrosis:
a condition where only one kidney is present.
203. Multiple colobomas:
a developmental abnormality of the structures of the eye.
204. Multiple epiphyseal dysplasia:
a condition where many of the long bones develop abnormally due to changes
in the growth plates.
204a. Muscular dystrophy:
a congenital and often inherited form of generalized muscle dysfunction which
causes signs such as poor growth, weakness, abnormal gait, dificulty eating and
swallowing, and muscle atrophy. Affected animals have serious health
problems and may die or be euthanized. Inheritance is sex-linked in Golden
Retrievers, Irish Terriers, Samoyeds, and Belgian Shepherds.
205. Muzzle pyoderma:
an infectious skin disease on the muzzle of an animal.
206. Myasthenia gravis:
a syndrome characterized by muscle fatigue due to an autoimmune disease
which produces chemical abnormalities of the muscles and nerves. An enlarged
esophagus called megaesophagus can result and causes regurgitation of food.
206a. Narcolepsy:
a neurological disorder characterized by falling asleep suddenly (collapse)
which can occur during periods of activity and last for varying lengths of time.
Seen in Doberman Pinschers and Labrador Retrievers.
207. Narrow palpebral fissure:
an abnormally small opening between the upper and lower eyelids.
208. Nasal pyoderma:
a skin infection of the nose.
209. Nasal solar dermatitis:
a skin disease of the nose and muzzle which is greatly affected by exposure to
sunlight. Common in collies.
210. Nasolacrimal puncta atresia:
(see #23).
211. Necrotizing myelopathy:
a condition where the spinal cord gradually dies.
212. Necrotizing panotitis:
a severe infection of the ear and surrounding tissues.
213. Neuromuscular atrophy:
a condition where the muscles waste away due to lack of proper nerve supply.
214. Neuronal ceroid lipofuscinosis:
a congenital disease where fatty pigments are deposited in the brain and cause
brain dysfunction. (see #193a).
215. Neurotropic osteopathy:
a disease of the bones due to abnormalities of the nerves.
216. Nodular panniculitis:
a skin disease characterized by nodules of inflammation under the skin.
217. Oligodendroglioma:
a cancer arising from a type of cell found in the brain and spinal cord.
218. Oligodontia:
an abnormally small number of teeth.
219. Open fontanel:
a condition where the suture lines between bones of the skull do not fuse
together properly.
220. Optic nerve hypoplasia:
a condition where the optic nerve going from the eye to the brain is too small.
221. Osteochondritis dissecans:
a specific form of inflammation of the cartilage of certain joints which causes
arthritis. (see #221a).
221a. Osteochondrosis:
a group of developmental diseases resulting in abnormal formulation of joint
cartilage. Commonly involves the shoulder, stifle, hock or elbow. (see #221).
222. Osteodystrophy:
any of a number of diseases involving the development of the bones.
223. Osteogenesis imperfecta:
imperfect development of the structure and/or mineralization of the bones.
224. Osteopetrosis:
a condition where the bones are abnormally dense and hard.
225. Osteosarcoma:
a cancer arising from the cells of the bones.
226. Otitis externa:
an infection of the external structures of the ear.
227. Otocephalic syndrome:
a developmental abnormality where the animal lacks a lower jaw, and the ears
meet below the face.
228. Overshot jaw:
a condition where the upper jaw is too long for the lower jaw.
229. Pancreatic insufficiency:
a condition where the pancreas does not produce the proper enzymes for
digesting food.
230. Pannus:
an immunologic eye disease characterized by abnormal growth of tissue over
the cornea.
231. Panosteitis:
(see #105).
232. Parosteitis:
inflammation of tissue around a bone.
233. Parotitis:
inflammation of the parotid salivary gland. Also called parotiditis.
234. Partial alopecia:
some loss of the normal haircoat.
235. Patella luxation:
a condition where the knee caps slide in and out of place.
236. Patent ductus arteriosus:
failure of the vessel remnant joining the aorta and pulmonary artery in fetal
life to close properly at birth, thereby shunting blood away from the lungs.
237. Pattern alopecia or baldness:
hair loss occurring in certain patterns. Common in dachshunds.
238. Pemphigus erythematosus:
one of many skin diseases caused by an autoimmune mechanism.
239. Pemphigus foliaceous:
another skin disease caused by autoimmune destruction of tissues.
240. Perianal adenoma:
a cancer arising from a cell of a gland found near the anus.
241. Perianal fistulas:
a condition characterized by abnormal communications from deeper tissues to
the skin surrounding the anus.
242. Perianal gland tumor:
(see #240).
243. Persistent right aortic arch:
a developmental abnormalitiy where one of the fetal blood vessels near the
heart does not atrophy as it should.
244. Persistent hyaloid artery:
as #243, however, involving a blood vessel inside the eye.
245. Persistent pupillary membrane:
a developmental abnormality where the membrane forming the iris does not
form properly.
245a. Phosphofructokinase deficiency:
a deficiency of a specific red blood cell enzyme in English springer spaniels.
Causes chronic anemia, exercise-induced acute hemolytic crises and enlarged
spleen.
246. Pigmentary keratitis:
an inflammatory condition of the cornea characterized by abnormal
pigmentation.
247. Pituitary dwarfism:
a developmental abnormality resulting in an undersized animal due to a
defective pituitary gland.
248. Pituitary tumor:
a cancer arising from the pituitary gland.
249. Platelet disorder:
a group of abnormalities of small blood cells necessary to control bleeding.
(see #311).
250. Pododermatitis:
a skin infection of the paws.
251. Polyostotic fibrous dysplasia:
a type of bone disease where the bones are composed of improper fibrous
tissues.
252. Polyradiculoneuritis:
an acute inflammatory disease of several groups of nerves causing fever.
253. Posterior retinal atrophy:
a deterioration of the part of the eye which translates light to electric impulses
(the retina). Produces night blindness. (see #256).
254. Primary peripheral retinal dystrophy:
a certain type of developmental disease affecting the retina.
255. Progressive ataxia:
a condition where the animal's sense of coordination deteriorates.
256. Progressive retinal atrophy:
a disease where the retina slowly deteriorates, producing night blindness.
257. Prolapsed rectum:
a condition where the inside of the rectum protrudes outside the anus.
258. Prolapsed uterus:
a condition where the uterus protrudes into the vaginal canal or through the
vaginal opening.
259. Pseudohermaphrodism (pseudohermaphroditism):
a condition where the animal has the gonads of one sex but the appearance is
ambiguous or is of the opposite sex.
260. Pulmonic stenosis:
a condition where one of the valves of the heart does not open properly.
261. Pyloric stenosis:
a condition where the opening leading from the stomach does not function
properly.
262. Pyometra:
a bacterial infection of the uterus where it fills with pus.
263. Pyruvate kinase deficiency:
a deficiency of a specific red blood cell enzyme. Most commonly seen in
Basenjis; also in Beagles and Cairn Terriers.
264. Quadriplegia with amblyopia:
a syndrome characterized by weakness of all four limbs, as well as of vision.
264a. Rage syndrome:
sudden unprovoked aggression of serious nature. Seen in English springer
spaniels. (see #27).
265. Recessive retinal dysplasia:
a developmental disorder resulting in an abnormal retina, carried by a
recessive gene.
266. Renal cortical hypoplasia:
a condition where the cortex of the kidney(s) develops incompletely.
266a. Renal dysplasia:
a condition where the kidneys form abnormally. Renal failure develops with
protein loss in urine.
267. Renal hypoplasia:
a condition where the kidney(s) do not develop completely.
268. Renal tubular dysfunction:
a condition where the tubules of the kidneys (the filtering structures) do not
function properly. (see #124b). In Basenjis, glycosuria develops and is called
Fanconi syndrome.
269. Retinal detachment:
where the retina is unattached to the back of the eye.
270. Retinal dysplasia:
a condition where the retina is malformed.
271. Schnauzer comedo syndrome:
a skin disease of schnauzers where the skin forms comedones ("blackheads").
272. Scotty cramp:
a condition fround in Scottish terriers where the animal has periodic,
generalized cramping of the muscles.
273. Screw tail:
a birth defect where the tail is twisted tightly on itself.
273a. Sebaceous adenitis:
(see #140).
274. Sebaceous cyst:
a small mass in the skin with a secretory lining and filled with a yellow waxylike material (see #107).
275. Sebaceous gland tumor:
a tumor arising from sebaceous glands of the skin.
276. Seborrhea:
a skin disease with excess scaling of the skin and often an excess of sebum (oillike substance) and odor.
277. Sertoli cell tumor:
a tumor of the testicles which secretes estrogen and causes feminization.
278. Short skull:
a skull that is abnormally short for the breed in question.
279. Short spine:
a spine that is abnormally short for the breed in question.
280. Short tail:
a tail that is abnormally short for the breed in question.
281. Shoulder abnormalities:
a group of disorders of the shoulder joint due to malformation or subluxation.
282. Shoulder dysplasia:
a looseness of the shoulder joint.
283. Silica uroliths:
stones which are composed primarily from silicone that form in the bladder.
284. Sinoatrial syncope:
a condition where the electrical impulses of the heart are abnormal and the
animal has episodes of syncope (fainting).
285. Skin disorders:
any of a number of abnormalities of the skin.
286. Skin neoplasms:
any number of tumors arising from cells of the skin.
287. Spina bifida:
a developmental abnormality where some vetebra are malformed thereby
exposing the spinal cord.
288. Spinal cord demyelination (ataxia):
an abnormality of the nervous tissue of the spinal cord leading to
incoordination.
289. Spinal dysraphism:
a developmental abnormality where the spinal cord does not form completely.
290. Spinal osteochondrosis:
a specific type of developmental abnormality of the vertebrae.
291. Splenic torsion:
a condition where the spleen twists upon itself.
292. Spondylolisthesis (Wobbler's syndrome):
a condition where the vertebrae of the neck slip out of joint and are
malformed causing progressive incoordination of the rear legs. Commonly seen
in Doberman pinschers. (see #51).
293. Spondylosis:
a malformation of the vertebrae.
294. Squamous cell carcinoma:
a cancer arising from the squamous type of skin cell.
295. Stenotic nares:
a condition where the openings of the nose (nares) are too small.
296. Sterile pyogranuloma syndrome:
a disease of the deeper layers of the skin characterized by formation of
abnormal tissues, with no infectious organisims involved.
297. Sternal callus:
a thickened, hairless area forming on the chest of an animal.
298. Stockard's paralysis:
a degeneration of parts of the spinal cord causing paralysis.
299. Stomach torsion:
(see #131).
299a. Storage disease:
(see #193a). (see #188a).
300. Subaortic stenosis:
a tightening of the outflow opening for blood to go from the heart into the
aorta. Common in Golden Retrievers and Newfoundlands.
301. Subcorneal pustular dermatosis:
a skin inflammation occurring between certain layers of the skin.
302. Subcutaneous cysts:
small fluid-filled masses accumulating under the skin.
303. Subvalvular aortic stenosis:
as #300, but the tightening occurs below the aortic valve.
304. Swimmer puppies:
a developmental defect which causes a flattening of the body so that newborn
pups are unable to place their feet under them for proper locomotion.
304a. Syncope:
a brief period of fainting or collapse.
305. Syringomyelia:
developmental abnormalities causing cavities within the spinal cord, probably
just an effect of #289. Common in Rhodesian ridgebacks.
306. Systemic lupus erythematosus:
an autoimmune disease where antibodies form against the nuclear protein of
cells. Characterized by skin lesions as well as other organ dysfunctions and
blood abnormalities.
307. Tail abnormalities:
any number of problems associated with the tail.
308. Tail fold dermatitis:
a skin infection caused by abnormal tissue folds around the tail.
309. Teeth abnormalities:
any number of problems of the teeth.
310. Tetralogy of Fallot:
a specific four-way developmental abnormality of the structures of the heart
and associated great vessels.
311. Thrombocytopathy:
a functional abnormality of small blood cells (thrombocytes or platelets) which
are needed to control bleeding. (see #249).
311a. Thrombocytopenia:
a reduced number of platelets in the blood which causes pinpoint
hemorrhages in the skin and mucosa. Often accompanies #146 as an
autoimmune syndrome called Evans syndrome. (see #249).
311b. Thymic atrophy:
a deficiency of cell-mediated immunity expressed by decreased T-cell function
and low levels of growth hormone. Occurs in Weimaraners. (see #165).
312. Thyroiditis:
an autoimmune inflammatory disease of the thyroid gland. (see #166). (see
#192).
313. Tracheal collapse:
(see #57).
314. Trembling of the hindquarters:
a condition where the rear legs tremble due to muscle weakness or other
pathologies.
315. Type II muscle fiber deficiency:
a deficiency in form and/or function of a specific type of muscle fiber.
316. Ulcerative colitis:
an autoimmune inflammation of the lining of the colon characterized by
formation of ulcers.
317. Ulcerative keratitis:
an inflammation of the cornea characterized by the formation of ulcers.
318. Umbilical hernia:
a break in the abdominal muscle wall at the point where the umbilical cord
enters the body.
319. Undershot jaw:
a condition where the lower jaw is too long for the upper jaw.
320. Ununited anconeal process:
a developmental abnormality of one of the bones of the elbow joint causing
pain. (see #221a).
321. Uric acid calculi:
bladder stones which are formed primarily from urates. Common in
Dalmatians.
322. Uric acid excretion abnormalities:
an abnormality in the process of the excretion of the uric acid formed during
metabolism. Common in Dalmatians.
323. Uterine eclampsia:
(see #91).
324. Uterine inertia, primary:
a condition where the uterus does not have the muscular strength to proceed
with the birth process, and not due to any acquired problems (e.g.,
malnutrition).
325. Vaginal hyperplasia:
an overgrowth of tissues of the vagina.
326. Vasculitis:
an inflammatory condition of the blood vessels.
327. Ventricular septal defect:
an abnormality (usually a hole) in the wall between the two chambers of the
heart.
327a. Vitamin B12-responsive malabsorption:
a disease of young Giant schnauzers in which there is selective inability to
absorb vitamin B12 from the bowel. Affected puppies have chronic
nonregenerative anemia, low white blood cell counts, low serum vitamin B12,
metabolites (methylmalonic acid) in the urine, and failure to thrive.
328. Vitiligo:
a lack of pigment in the skin (called vitiligo in man and hypopigmentation in
nonhuman animals). Common in Rottweilers, Doberman Pinschers, Old English
Sheepdogs and Dachshunds. (see #161).
329. Vogt-Koyanagi-Harada-like syndrome:
an autoimmune disease common in Akitas and the "sled" dog breeds where
the eyes, blood and other tissues are progressively destroyed leading to
blindness and death.
330. von Willebrand's disease:
a type of bleeding disorder caused by defective blood platelet function. Occurs
in 59 dog breeds but most often in Doberman pinschers. An autosomal trait
affecting both sexes.
331. Westie armadillo syndrome:
a condition of West Highland white terriers where the skin becomes very
thickened. Related to atopic (inhalant) allergies. (see #106).
331a. White dog shaker syndrome:
a disorder mainly of white dogs having muscular tremors over entire body,
incoordination and rapid eye movements. Episodes occur with stress or
excitement.
332. Wobbler's syndrome:
(see #51). (see #292).
333. Zinc deficiency:
can be caused by dietary problems, but also from an inability to utilize and
store zinc properly. Seen as a lethal problem called acrodermatitis in Bull
Terriers.
334. Zinc-responsive dermatosis:
a condition where the skin is abnormal (scaly, hair loss, etc.) but which
responds to the administration of zinc in the diet.
B. Bolilor Congenitale si Rasele de Caini cel mai
frecvent afectate
Aberdeen Terrier:
324
Affenpinscher:
12, 55, 98, 218, 235, 236, 330
Afghan Hound:
14, 42, 65, 96, 114, 121, 135, 145, 147, 166, 206a, 211, 221, 221a, 239, 245,
256, 269, 270, 330
Airedale Terrier:
7, 9, 48, 65, 88, 103, 122, 140, 148, 165, 166, 168, 206a, 230, 256, 269, 270,
273a, 314, 318, 330
Akita:
9, 27, 43, 65, 71, 103, 114, 115, 135, 137, 140, 146, 152, 156, 166, 172, 192,
193a, 199, 221, 221a, 239, 256, 270, 273a, 312, 318, 329, 330
Alaskan Malamute:
13, 42, 59, 65, 67, 85, 89, 120, 121, 122, 135, 144, 147, 148, 150, 152, 166,
206a, 221, 221a, 256, 266, 330, 334
American Cocker Spaniel:
1, 10, 12, 18, 26, 27, 42, 43, 54, 55, 65, 69, 72, 73, 88, 94, 94a, 95, 103, 107,
109, 121, 123, 135, 146, 147, 148, 152, 154, 166, 171, 173, 179, 181, 186, 188,
193a, 197, 221, 221a, 226, 228, 235, 236, 242, 245, 254, 256, 266, 270, 275,
276, 286, 307, 318, 319, 320, 330
American Foxhound:
78, 199, 290, 311
American Staffordshire Terrier:
42, 54, 55, 88, 103, 166, 204a, 221, 221a, 256
American Water Spaniel:
42, 150, 270
Antarctic Husky:
103, 147
Australian Cattle Dog (Australian Blue Heeler):
42, 78, 109, 121, 124b, 147, 149, 152, 166, 171, 177, 186, 193a, 200, 214, 221,
228, 245, 256, 270, 318, 319
Australian Kelpie:
58, 199, 203, 256
Australian Shepherd:
42, 55, 58, 78, 89, 152, 166, 199, 203, 221, 221a, 245, 256, 269, 270, 287, 318,
328, 329, 330
Australian Terrier:
85, 185, 256, 270
Basenji:
56, 59, 66, 124a, 146, 166, 171, 172, 245, 256, 263, 268, 270, 318
Basset Hound:
5, 9, 9a, 15, 27, 31, 61a, 70, 94, 103, 105, 109, 114, 120, 121, 131, 135, 136,
146, 147, 157, 159a, 166, 168, 169, 170, 171, 174, 186, 190, 221, 221a, 222,
231, 235, 245, 249, 256, 274, 291, 299, 311, 318, 330, 332
Beagle:
1010, 1111, 21, 34, 37, 42, 43, 54, 55, 65, 72, 80, 88, 94a, 109, 114, 120, 121,
135, 136, 146, 147, 157, 166, 168, 173, 182, 188a, 192, 193a, 202, 204, 212,
220, 227, 242, 245, 256, 260, 267, 270, 275, 280, 310, 312, 327, 330
Bearded Collie:
9a, 42, 65, 152, 159a, 166, 245, 256, 269, 270, 303
Bedlington Terrier:
2, 23, 42, 88, 94, 184, 199, 210, 223, 256, 265, 266, 269, 270
Belgian Malinois:
109, 152, 166, 256
Belgian Sheepdog:
42, 109, 152, 166, 204a, 230, 256, 269, 270
Belgian Tervuren:
42, 109, 166, 221, 221a, 230, 256
Bernese Mountain Dog:
20, 42, 46, 47, 54, 55, 103, 149, 149d, 152, 166, 221, 221a, 255, 256, 269, 318
Bichon Frise:
42, 53, 65, 103, 109, 122, 148, 235, 331a
Black and Tan Coonhound:
94, 103, 122, 148, 152, 221, 221a, 252
Bloodhound:
31, 94, 103, 114, 152, 166, 179, 181, 195, 221, 221a, 245, 324
Blue Tick Hound:
136, 193a, 221, 221a
Border Collie:
65, 109, 152, 186, 214, 221, 221a, 256
Border Terrier:
17, 39, 42, 58, 68, 70, 126, 145, 186, 196, 217, 235, 248, 256, 270, 324, 327
Borzoi (Russian Wolfhound):
31, 36, 42, 118, 152, 155, 166, 192, 200, 256, 312, 330
Boston Terrier:
10, 12, 17, 22, 39, 42, 54, 55, 65, 67, 68, 71, 78, 80, 88, 90, 103, 112, 114, 135,
145, 151, 154, 159, 166, 171, 174, 179, 181, 196, 235, 236, 248, 256, 262, 275,
295, 304, 308
Bouvier des Flandres:
42, 55, 74, 90, 94, 100, 103, 131, 135, 152, 166, 221, 221a, 318, 330
Boxer:
3, 6, 10, 22, 24, 38, 42, 67, 72, 75, 80, 83, 88, 94a, 99, 103, 113, 1144, 119, 121,
131, 134, 139, 149, 153, 156, 166, 192, 196, 221, 221a, 250, 256, 277, 293, 294,
297, 300, 304a, 312, 317, 325, 330
Briard:
42, 105, 116, 231, 256, 330
Brittany Spaniel:
42, 55, 61b, 88, 121, 147, 149bb, 186, 221, 221a, 256, 270
Brussels Griffon:
1, 42, 88, 256, 278, 281
Bullmastiff:
3, 31, 51, 55, 88, 1033, 114, 135, 152, 166, 221, 221a, 245, 256, 270, 273, 280,
325
Bull Terrier:
78, 94, 103, 130, 171, 186, 196, 221, 221a, 294, 318, 333
Cairn Terrier:
1, 42, 48, 68, 75, 121, 122, 135, 136, 147, 148, 149, 166, 171, 186, 193a, 256,
270, 330
Cardigan Welsh Corgi:
61a, 75, 90, 103, 135, 173, 186, 245, 256, 270
Cavalier King Charles Spaniel:
37a, 42, 65, 85, 88, 103, 166, 179, 199, 235, 256, 270, 311a
Chesapeake Bay Retriever:
42, 88, 103, 114, 152, 221, 221a, 256, 270, 330
Chihuahua:
55, 57, 65, 87, 103, 121, 135, 147, 149, 154, 160, 162, 166, 175, 179, 181, 186,
201, 2141, 221, 221a, 235, 256, 260
Chinese Shar-Pei:
10, 22, 29, 80, 94, 103, 128, 129, 135, 152, 166, 168, 172, 186, 187, 221, 221a,
226, 235, 256, 270, 276, 295, 319, 326
Chow Chow:
27, 31, 42, 48, 55, 61, 80, 88, 94, 95, 98, 103, 135, 152, 160a, 165, 166, 172,
192, 204, 204a, 221, 221a, 230, 239, 245, 256, 280, 312
Clumber Spaniel:
94, 103, 152, 309, 319, 324
Collie:
33, 37, 42, 45, 58, 65, 73, 78, 80, 82, 86, 88, 89, 103, 109, 121, 126, 140, 147,
152, 166, 171, 176, 199, 208, 209, 220, 221, 221a, 236, 238, 245, 256, 270,
273a, 318, 330
Curly-Coated Retriever:
42, 88, 94, 103, 256
Dalmatian:
10, 22, 32, 78, 80, 81, 88, 103, 129, 130, 135, 136, 140, 152, 166, 193a, 199,
221, 221a, 230, 256, 273a, 294, 321, 322
Dandie Dinmont Terrier:
3, 42, 67, 87, 97, 103, 135, 152, 166, 173, 235, 245, 281
Doberman Pinscher:
2, 3, 4, 6, 7, 27, 35, 38, 42, 51, 53, 59, 61, 64, 68, 80, 103, 105, 121, 127, 138a,
143a, 146, 147, 152, 161, 166, 170, 173, 182, 192, 199, 206a, 221, 221a, 231,
243, 245, 250, 251, 256, 266, 266a, 267, 270, 292, 304a, 312, 328, 330
English Bulldog:
1, 3, 6, 19, 42, 54, 55, 80, 88, 90, 94, 98, 103, 116, 129, 130, 145, 152, 154, 164,
166, 179, 181, 201, 205, 217, 242, 245, 260, 261, 278, 280, 287, 308, 325, 330
English Cocker Spaniel:
42, 70, 88, 94, 103, 119, 135, 147, 150, 166, 177, 186, 214, 221, 221a, 236, 245,
256, 259, 270, 304, 330
English Foxhound:
78, 290
English Setter:
31, 42, 61, 68, 78, 91, 94, 103, 121, 124b, 147, 152, 160, 166, 177, 181, 188a,
193a, 214, 221, 221a, 256, 323, 330
English Springer Spaniel:
9a, 10, 12, 18, 26, 27, 42, 43, 54, 55, 59, 65, 69, 72, 88, 94, 94a, 95, 103, 107,
109, 121, 123, 124, 135, 146, 147, 148, 152, 154, 159a, 160a, 166, 171, 173,
188, 193a, 197, 206a, 220, 221, 221a, 226, 228, 235, 236, 242, 245, 245a, 254,
256, 264a, 266, 270, 275, 276, 286, 307, 318, 319, 320, 330
English Toy Spaniel (King Charles, Ruby & Blenheim Spaniels:
42, 55, 65, 85, 103, 143, 235, 270, 318
Field Spaniel:
14, 42, 166, 256, 270
Finnish Spitz:
85
Flat-Coated Retriever:
42, 88, 94, 103, 152, 166, 256
French Bulldog:
42, 54, 55, 88, 98, 103, 119, 121, 122, 145, 147, 148, 330
German Shepherd:
10, 21, 27, 36, 42, 44, 54, 55, 59, 65, 72, 72a, 75, 81, 83, 86, 94a, 95, 102, 103,
105, 109, 112, 114, 121, 122, 129a, 131, 137, 143a, 147, 148, 152, 166, 168,
180, 186, 191, 192, 193a, 194, 208, 220, 221, 221a, 225, 226, 229, 230, 231,
236, 238, 241, 243, 247, 256, 266, 270, 276, 283, 300, 306, 312, 316, 320, 330
German Shorthaired Pointer:
8, 9a, 42, 65, 103, 114, 124b, 125, 152, 159a, 166, 177, 188a, 191, 193a, 197,
214, 221, 221a, 230, 256, 300, 311, 330
German Wirehaired Pointer:
42, 103, 152, 221, 221a, 270, 302, 330
Giant Schnauzer:
42, 105, 146, 152, 158, 166, 192, 221, 221a, 231, 256, 269, 270, 276, 311a, 312,
327a
Golden Retriever:
7, 9, 10, 22, 42, 59, 65, 81, 88, 94, 95, 103, 121, 129, 129a, 130, 140, 143a, 146,
147, 149, 152, 166, 178, 192, 193, 204a, 206, 220, 221, 221a, 256, 273a, 300,
312, 328, 329
Gordon Setter:
31, 42, 45, 103, 166, 179, 181, 221, 221a, 256, 270, 307
Great Dane:
6, 7, 31, 36, 38, 42, 48, 50, 51, 61, 75, 78, 80, 83, 88, 94, 103, 114, 131, 135,
144, 152, 153, 155, 158, 166, 176, 192, 198, 199, 201, 204a, 211, 221, 221a,
225, 243, 250, 255, 256, 270, 292, 298, 312, 330
Great Pyrenees:
5, 9, 16, 42, 78, 80, 94, 103, 122, 124, 148, 152, 166, 195, 221, 221a, 244, 256,
304, 311a, 325
Greyhound:
14, 42, 65, 72, 88, 90, 94a, 109, 112, 121, 147, 155, 166, 186, 220, 221, 221a,
230, 245, 256, 279, 326, 330
Harrier:
none recognized.
Havanese:
42, 245, 256, 269
Ibizan Hound:
10, 14, 42, 70, 166, 270, 311a
Irish Setter:
7, 10, 22, 31, 40, 42, 61, 65, 79, 81, 88, 103, 109, 121, 129, 130, 131, 132, 138a,
140, 146, 147, 152, 166, 186, 191, 198, 206a, 220, 221, 221a, 243, 245, 256,
264, 273a, 276, 311a, 320, 324, 328, 329
Irish Terrier:
75, 85a, 204a, 256
Irish Water Spaniel:
42, 152, 166, 167, 195, 245, 256, 330
Irish Wolfhound:
38, 42, 103, 149, 152, 155, 158, 166, 221, 221a, 330
Italian Greyhound:
14, 42, 61, 65, 70, 109, 135, 220, 243, 256, 311a
Jack Russell Terrier (New Name: Parson Russell Terrier):
20, 123, 186, 206, 330
Japanese Chin (Japanese Spaniel):
42, 70, 88, 103, 137, 256
Keeshond:
1, 41, 42, 63, 71, 85, 94, 109, 135, 149, 156, 156, 166, 180, 197, 201, 256, 260,
266, 274, 310, 327, 330
Kerry Blue Terrier:
42, 47, 88, 103, 124, 141, 166, 179, 181, 207, 256, 311a, 320, 330
Komondor:
42, 103, 152, 166, 285
Kuvasz:
42, 103, 152, 166, 221, 221a, 330
Labrador Retriever:
3, 7, 9, 9a, 10, 22, 40, 42, 59, 68, 77, 78, 85, 88, 89, 94, 95, 109, 121, 122, 129a,
147, 148, 149, 152, 158, 159a, 160, 166, 197, 204a, 206a, 221, 221a, 244, 245,
256, 257, 258, 269, 270, 276, 282, 315, 330
Lakeland Terrier:
42, 70, 88, 166, 186, 245, 319, 320, 330
Lhasa Apso:
1, 10, 22, 42, 65, 81, 88, 94, 103, 166, 171, 179, 181, 189, 235, 256, 266, 330
Maltese:
1, 30, 70, 78, 88, 110, 135, 149, 152, 160, 166, 192, 235, 256, 270, 312, 330,
331a
Mastiff:
31, 65, 94, 103, 166, 221, 221a, 245, 256, 270, 325
Miniature Bull Terrier:
103, 166, 186
Miniature Dachshund:
4, 5, 42, 43a, 54, 55, 61, 65, 72, 75, 78, 80, 85, 94a, 129, 146, 156, 161, 166,
173, 176, 178, 187, 199, 206a, 214, 216, 224, 228, 230, 237, 239, 250, 256, 267,
275, 296, 297, 326, 328, 330
Miniature Pinscher:
42, 65, 87, 103, 140, 171, 179, 181, 185, 230, 256, 273a
Miniature Poodle:
5, 10, 22, 26, 27, 42, 49, 78, 81, 88, 92, 93, 103, 109, 110, 111, 121, 135, 136,
140, 144, 147, 156, 165, 166, 173, 175, 184, 193a, 199, 206, 220, 221, 221a,
223, 226, 230, 235, 236, 256, 269, 275, 294, 327, 330
Miniature Schnauzer:
10, 22, 42, 70, 76, 88, 103, 112, 121, 144a, 146, 147, 149, 149a, 157, 166, 185,
221, 221a, 259, 260, 266a, 271, 284, 301, 311a, 330
Neapolitan Mastiff:
42, 83, 94, 103, 152, 158, 166, 221, 245, 256
Newfoundland:
25, 38, 42, 75, 83, 94, 95, 103, 114, 129a, 146, 152, 166, 183, 192, 221, 221a,
236, 300, 311a, 312, 320, 327, 330
Norwegian Dunkerhound:
78, 199
Norwegian Elkhound:
42, 88, 103, 135, 152, 166, 180, 186, 256, 266, 275, 276, 302
Norwich Terrier:
65, 166, 186, 330
Nova Scotia Duck Tolling Retriever:
9a, 42, 159a, 166, 256
Old English Sheepdog:
9a, 42, 80, 88, 103, 122, 129, 140, 146, 148, 152, 159a, 161, 166, 172, 192, 221,
221a, 250, 256, 269, 270, 273a, 292, 311a, 312, 328, 330
Otter Hound:
119, 152, 166, 221, 221a, 249, 274, 311, 330
Papillon:
12, 42, 65, 103, 166, 235, 330
Pekingese:
42, 88, 103, 116, 146, 162, 166, 171, 173, 179, 181, 184, 186, 199, 230, 246,
256, 277, 278, 304, 311a, 317, 318
Pembroke Welsh Corgi:
42, 50, 65, 72, 75, 90, 109, 166, 186, 245, 256, 270, 330
Pharoah Hound:
10, 166, 220, 311a
Pointer (English):
8, 10, 36, 42, 65, 80, 89, 103, 109, 152, 166, 178, 213, 215, 230, 231, 239, 256,
318, 330
Pomeranian:
42, 70, 73, 87, 88, 103, 110, 136, 137, 140, 149, 162, 165, 166, 184, 186, 210,
219, 235, 236, 256, 273a, 313
Portuguese Waterdog:
9a, 42, 88, 159a, 166, 188a, 193a, 245, 256, 273a, 299a
Pug:
10, 22, 50, 54, 57, 65, 67, 76, 80, 81, 90, 98, 98a, 103, 109, 116, 143, 149, 152,
166, 173, 179, 185, 195, 196, 230, 235, 246, 256, 259, 293, 295, 304a, 308, 309,
317
Puli:
27, 42, 152, 256, 270
Rhodesian Ridgeback:
42, 45, 51, 84, 103, 152, 166, 221, 221a, 245, 256
Rottweiler:
9a, 27, 42, 85, 88, 94, 95, 103, 105, 129, 129a, 146, 152, 159a, 161, 166, 172,
192, 231, 245, 256, 269, 270, 300, 311a, 312, 326, 328, 330
Saint Bernard:
31, 42, 60, 72, 83, 88, 94, 94a, 103, 109, 114, 118, 121, 122, 133, 147, 148, 149,
152, 166, 188, 198, 221, 221a, 225, 298, 325, 328, 329, 330
Saluki:
14, 27, 42, 65, 103, 146, 166, 214, 245, 256, 269, 270, 311a, 330
Samoyed:
24, 42, 65, 85, 88, 89, 103, 121, 135, 140, 147, 149, 149b, 152, 166, 221, 221a,
242, 245, 256, 260, 269, 270, 273a, 274, 311a, 328, 330
Schipperke:
42, 85, 88, 103, 166, 185, 207, 239, 245, 256
Scottish Deerhound:
31, 42, 105, 131, 158, 166, 221, 221a
Scottish Terrier:
5, 10, 22, 42, 68, 75, 78, 81, 122, 129, 148, 166, 186, 193, 197, 256, 272, 294,
324, 330
Sealyham Terrier:
22, 42, 81, 135, 166, 186, 245, 256, 269, 270
Shetland Sheepdog (Sheltie):
5, 42, 52, 59, 65, 82, 86, 88, 108, 121, 122, 129, 147, 148, 149a, 151, 152, 157,
166, 192, 220, 236, 245, 256, 270, 306, 312, 328, 329, 330
Shih Tzu:
1, 42, 54, 55, 83, 88, 89, 94, 103, 146, 149, 166, 182, 187, 256, 266, 269, 311a,
317, 330
Siberian Husky:
41, 42, 65, 86, 103, 104, 121, 135, 147, 152, 166, 186, 221, 221a, 230, 245, 256,
270, 328, 329, 330, 334
Silky Terrier:
42, 70, 85, 154, 185, 188a, 193a, 235, 245, 256, 311a, 313
Skye Terrier:
27, 88, 101, 111, 163, 183, 186, 192, 206, 312, 316, 330
Smooth Fox Terrier:
3, 10, 22, 42, 78, 81, 87, 88, 112, 135, 138, 166, 185, 186, 221, 221a, 243, 260,
Soft Coated Wheaten Terrier:
9a, 10, 22, 42, 81, 159a, 166, 172, 220, 245, 253, 256, 266a, 270, 330
Spinoni Italiano:
91, 103
Standard Dachshund:
1, 4, 5, 42, 54, 55, 61, 65, 72, 75, 78, 80, 83, 85, 94a, 103, 115, 129, 135, 156,
161, 166, 173, 176, 179, 181, 187, 199, 214, 216, 220, 224, 228, 230, 237, 239,
245, 250, 256, 267, 275, 296, 297, 326, 328, 330
Standard Manchester Terrier:
42, 72, 109, 135, 166, 185, 186, 256, 330
Standard Poodle:
9a, 10, 21, 22, 27, 31, 42, 61, 81, 88, 103, 109, 110, 121, 124a, 135, 140, 144,
146, 147, 152, 159a, 166, 175, 184, 186, 199, 220, 221, 221a, 223, 230, 245,
256, 269, 273a, 311a, 330
Standard Schnauzer:
23, 42, 62, 121, 147, 166, 221, 221a, 240, 260, 270, 330
Sussex Spaniel:
38, 42, 88, 103, 270
Swiss Mountain Dog:
221, 221a, 249, 311, 311a
Tibetan Mastiff:
95, 152, 158, 166, 192, 221, 245, 312, 330
Tibetan Terrier:
14, 42, 103, 186, 199, 214, 245, 256, 270
Toy Manchester Terrier:
42, 166, 186, 256, 330
Toy Poodle:
5, 10, 22, 26, 27, 42, 49, 78, 81, 88, 92, 93, 103, 109, 110, 111, 121, 124a, 135,
136, 140, 144, 146, 147, 149, 156, 165, 166, 173, 175, 184, 193a, 199, 10221,
221a, 223, 226, 230, 235, 236, 256, 269, 275, 294, 327, 330
Vizsla:
42, 68, 80, 103, 109, 117, 121, 140, 143a, 147, 152, 161, 166, 193, 221, 221a,
256, 273a, 289, 296, 305, 318, 319, 326
Weimaraner:
31, 43a, 61, 65, 88, 103, 105, 114, 121, 131, 140, 142, 147, 152, 158, 160a, 165,
166, 168, 169, 170, 196, 206, 256, 273a, 289, 296, 305, 311b, 318, 319, 326
Welsh Springer Spaniel:
42, 135, 152, 245, 256
Welsh Terrier:
42, 135, 166, 186, 330
West Highland White Terrier:
2, 4, 9a, 10, 21, 22, 42, 68, 71, 81, 106, 136, 156, 159a, 171, 181, 185, 186, 199,
245, 270, 276, 331, 331a
Whippet:
42, 61, 70, 80, 103, 143a, 166, 186, 221, 221a, 234, 256, 330
Wirehaired Fox Terrier:
3, 22, 42, 78, 87, 88, 103, 112, 135, 138, 185, 186, 243, 256, 260, 288, 310, 330
Wirehaired Pointing Griffon:
152, 206a, 226
Yorkshire Terrier:
42, 71, 80, 88, 103, 149, 154, 162, 166, 179, 181, 185, 235, 236, 245, 256, 269,
270, 276, 330
Afectiuni Congenitale Ale Felinelor
This web page contains a list of genetic or inherited conditions which have been reported
and lists the cat breeds affected. A brief description of the condition and references to
published papers and sometimes abstracts are given. Mode of inheritance, where known,
is given. Full lists of genetic and hereditary conditions affecting a particular breed can be
found on the genetic conditions web page. Please note that these pages are intended
for veterinary surgeons and that technical terminology is used throughout, with no
translation for the lay person.
A similar database is available for genetic conditions of dogs from the University of
Sydney.
To find the feline genetic or hereditary disease you are interested in, select from the list
below, bearing in mind that it may be known by more than one name:
ABCDEFGHIJKLMNOPQRSTUVWXYZ
A
Amyloidosis
Alpha-mannosidosis
Anaemia - see pyruvate kinase deficiency
Ataxia - see Mucolipidosis II
Axonopathy- see distal axonopathy
Azotaemia
Amyloidosis (familial)
Abysinnian
Chew DJ, DiBartola SP, Boyce JT, et al. 1982. Renal amyloidosis in related Abyssinian
cats. JAVMA 181 139
Alpha-mannosidosis
Clinical signs: progressively worsening neurological signs including tremors, loss of
balance, and nystagmus from 4 to 18 weeks of age.
References
Vite CH, McGowan JC, Braund KG, Drobatz KJ, Glickson JD, Wolfe JH, Haskins ME. 2001
Histopathology, electrodiagnostic testing, and magnetic resonance imaging show
significant peripheral and central nervous system myelin abnormalities in the cat model
of alpha-mannosidosis. J Neuropathol Exp Neurol. 60(8):817-28.
Alpha-mannosidosis is a disease caused by the deficient activity of alpha-mannosidase, a
lysosomal hydrolase involved in the degradation of glycoproteins. The disease is
characterized by the accumulation of mannose-rich oligosaccharides within lysosomes.
The purpose of this study was to characterize the peripheral nervous system (PNS) and
central nervous system (CNS) myelin abnormalities in cats from a breeding colony with a
uniform mutation in the gene encoding alpha-mannosidase. Three affected cats and 3
normal cats from 2 litters were examined weekly from 4 to 18 wk of age. Progressively
worsening neurological signs developed in affected cats that included tremors, loss of
balance, and nystagmus. In the PNS, affected cats showed slow motor nerve conduction
velocity and increased F-wave latency. Single nerve fiber teasing revealed significant
demyelination/remyelination in affected cats. Mean G-ratios of nerves showed a
significant increase in affected cats compared to normal cats. Magnetic resonance
imaging of the CNS revealed diffuse white matter signal abnormalities throughout the
brain of affected cats. Quantitative magnetization transfer imaging showed a 8%-16%
decrease in the magnetization transfer ratio in brain white matter of affected cats
compared to normal cats, consistent with myelin abnormalities. Histology confirmed
myelin loss throughout the cerebrum and cerebellum. Thus, histology, electrodiagnostic
testing, and magnetic resonance imaging identified significant myelination abnormalities
in both the PNS and CNS that have not been described previously in alpha-mannosidosis.
Top of Page
Azotaemia
Birman
Reference
Gunn-Moore DA, Dodkin SJ, Sparkes AH. 2002 An unexpectedly high prevalence of
azotaemia in Birman cats. J Feline Med Surg. 4(3):165-6.
B
Blindness - see Mucolipidosis II and Progressive retinal atrophy
C
Cardiac defect - see cardiomyopathy, Mucolipidosis II; Myocardial disease; Patent Ductus
Arteriosis and Ventricular Septal Defect
Cardiomyopathy - see Hypertrophic cardiomyopathy
Cataracts - see Chediak-Higashi syndrome
Cerebellar degeneration - hereditary
Chediak-Higashi syndrome
Christmas disease - see Haemophilia B
Coagulopathies
Congenital hypothyroidism
Congenital vestibular disease
Corneal clouding - see Mucopolysaccharidosis I.
Corneal sequestrum
Craniofacial malformation
Cutaneous asthenia - see Ehlers-Danlos syndrome.
Cerebellar degeneration - hereditary
Clinical signs: cerebellar dysfunction from the age of 7 to 8 weeks onward. Becomes
progressively worse, but not fatal, between 1 and 2.5 months.
Mode of inheritance: autosomal recessive.
Inada S, Mochizuki M, Izumo S, Kuriyama M, Sakamoto H, Kawasaki Y, Osame M. 1996
Study of hereditary cerebellar degeneration in cats. Am J Vet Res. 57(3):296-301.
OBJECTIVE--To elucidate the nature of ataxia observed in 3 cats spanning 2 generations.
DESIGN--Experimental breeding was attempted to confirm heritability of the disease and
establish the mode of inheritance; the original 3 cats and their offspring were studied.
ANIMALS--Seven diseased cats spanning 3 generations and 11 neurologically normal
cats. PROCEDURE--Cats were examined by use of the following methods: clinical
observation, hematologic and serum biochemical examinations, neurologic examination,
electrodiagnostics, magnetic resonance imaging, lysosomal enzyme activity assay,
horizontal transmission test, and virologic and pathologic examinations. RESULTS--All
kittens (1 male and 3 females) obtained by backcrosses developed pure cerebellar
dysfunction from the age of 7 to 8 weeks onward. It became progressively worse, but not
fatal, between 1 and 2.5 months. Prenatal or perinatal infection with feline panleukopenia
virus, inherited lysosomal storage diseases, including gangliosidosis and mannosidosis,
and feline hereditary neuroaxonal dystrophy were excluded. Magnetic resonance imaging
indicated that size of the cerebellum of diseased cats was markedly reduced. Cerebellar
cortical degeneration, especially with extensive destruction of Purkinje cells, was
observed microscopically. CONCLUSION--The disease was concluded to be cerebellar
degeneration of a new clinical form in cats having an autosomal recessive mode of
inheritance. CLINICAL RELEVANCE--When cerebellar dysfunction is diagnosed in a cat,
hereditary cerebellar degeneration of this type should be considered in the differential
diagnosis.
Top of Page
Chediak-Higashi syndrome
Smoke blue Persians
Clinical signs: cataracts, nystagmus
References:
Collier LL, Bryan GM, Prieur DJ. 1979. Ocular manifestations of the Chediak-Higashi
syndrome in four species of animals. JAVMA 175 587-590
Ocular examinations were performed on cattle, cats, mink, and mice affected with
Chediak-Higashi syndrome (CHS). Bovine eyes were examined grossly and with an
indirect ophthalmoscope, and Schirmer tear tests were performed. Feline eyes were
examined grossly as well as with an indirect opthalmoscope and a slit lamp
biomicroscope, and Schirmer tear tests were done on them. Postrotatory nystagmus was
induced and measured in clinically normal Siamese cats, in clinically normal Persian and
domestic short-haired cats, and in cats with CHS. Mink and mouse eyes were examined
grossly with focal illumination. The animals with CHS had photophobia, pale irises, and
fundic hypopigmentation associated with red fundic light reflections. Cats with CHS also
had cataracts. Spontaneous nystagmus was observed in four of nine cats with CHS, and
the duration of induced nystagmus was longer in the cats with CHS and in Siamese cats
than in clinically normal cats that were not Siamese. Tear secretion appeared to be
normal in all species of animals with CHS. The ocular manifestations of CHS in these
animals were compared with those reported in man and were found to be similar.
Collier LC, King EJ, Prieur DJ. 1985 Tapetal degeneration in cats with Chediak-Higashi
syndrome. Curr. Eye Res. 4 767-733
Kramer JW, Davis WC, Prieru DJ. 1977 The Chediak-Higashi syndrome of cats. Lab.
Invest. 36 554-562
Top of Page
Coagulopathies - see also Hageman (coagulation factor XII) deficiency
Devon Rex
Vitamin K-dependent multifactor coagulopathy
Devon Rex
Clinical signs: haemorrhage, prolonged clotting times, response to Vitamin K.
References:
Evans RJ. 1985 The blood and haemopoietic system. In Feline Medicine and
Therapeutics. (Ed.) Chandler EA, Hilbery ADR, Gaskell CJ. 129-130
Littlewood JD, Shaw SC, Coombes LM.Vitamin K-dependent coagulopathy in a British
Devon rex cat.J Small Anim Pract. 1995 Mar;36(3):115-8.Animal Health Trust,
Newmarket, Suffolk.
Deficiencies of the vitamin K-dependent coagulation factors were identified in a Devon
rex cat which had bled after castration. Haemorrhage was controlled by plasma
transfusion. Clotting times were normalised by oral administration of vitamin K. This
report confirms the existence of this bleeding disorder in a Devon rex cat in the United
Kingdom.
Maddison JE, Watson AD, Eade IG, Exner T.1990 Vitamin K-dependent multifactor
coagulopathy in Devon Rex cats. J Am Vet Med Assoc. 197(11):1495-7. Department of
Veterinary Clinical Sciences, University of Sydney, N.S.W., Australia.
A coagulopathy attributable to a deficiency of vitamin K-dependent clotting factors (II,
VII, IX, and X) was diagnosed in 3 Devon Rex cats. There was no evidence for exposure
to vitamin-antagonist-related rodenticides. The cats did not have evidence of hepatic
disease, gastrointestinal disease, or fat malassimilation. Oral treatment with vitamin K1
resulted in normalization of clotting factor concentrations. However, when treatment was
discontinued in 2 cats, prothrombin and activated partial thromboplastin values became
prolonged again, although the cats did not have clinical signs of a bleeding disorder.
Soute BA, Ulrich MM, Watson AD, Maddison JE, Ebberink RH, Vermeer C. 1992
Congenital deficiency of all vitamin K-dependent blood coagulation factors due to a
defective vitamin K-dependent carboxylase in Devon Rex cats.Thromb Haemost.
68(5):521-5. Department of Biochemistry, University of Limburg, Maastricht, The
Netherlands.
Two Devon Rex cats from the same litter, which had no evidence of liver disease,
malabsorption of vitamin K or chronic ingestion of coumarin derivatives, were found to
have plasma deficiencies of factors II, VII, IX and X. Oral treatment with vitamin K1
resulted in the normalization of these coagulation factors. After taking liver biopsies it
was demonstrated that the coagulation abnormality was accompanied by a defective
gamma-glutamyl-carboxylase, which had a decreased affinity for both vitamin K
hydroquinone and propeptide. This observation prompted us to study in a well-defined in
vitro system the possible allosteric interaction between the propeptide binding site and
the vitamin K hydroquinone binding site on carboxylase. It was shown that by the
binding of a propeptide-containing substrate to gamma-glutamylcarboxylase the
apparent KM for vitamin K hydroquinone is decreased about 20-fold. On the basis of
these in vitro data the observed defect in the Devon Rex cats can be fully explained.
Top of Page
Congenital hypothyroidism
Abysinnian
Jones BR, Gruffydd-Jones TJ, Sparkes AH. 1991 Congenital hypothyroidism in the cat.
FAB Bulletin 28 1 12
Congenital vestibular disease
Birmans, British Cream, Burmese, Persian, Siamese
Chrisman CL. 1980 Vet. Clin. N. Amer. 10 103
deLahunta A. 1977 Veterinary Neuroanatomy and Clinical Neurology. WB Saunders,
Philadelphia 22
Evans RJ. 1985 The nervous system. In Feline Medicine and Therapeutics. (Ed.) Chandler
EA, Hilbery ADR, Gaskell CJ. 54
Corneal sequestrum
Persian
Featherstone HJ, Sansom J.2004 Feline corneal sequestra: a review of 64 cases (80
eyes) from 1993 to 2000.Vet Ophthalmol. 2004 Jul-Aug;7(4):213-27.
Davies White Veterinary Specialists, Manor Farm Business Park, Higham Gobion SG3
5HR, UK. hjf@vetspecialists.co.uk
Feline corneal sequestrum is a common condition of the feline cornea. The purpose of
this study was to provide a detailed description of the clinical features of the condition
including the response to different management options and to assess the rate of
recurrence. The medical records of 64 cases (80 eyes) of feline corneal sequestra that
presented to the Animal Health Trust from 1993 to 2000 were reviewed. Fifty-two cases
were reviewed retrospectively; 12 cases were assessed prospectively between April and
September 2000 as part of a separate study. The Persian was the most frequently
encountered breed and the mean age of affected cats was 5.6 years. At initial
presentation, sequestra were unilateral in 58 cats and bilateral in 6 cats, 5 of which were
Persians. Ocular discomfort and ocular discharge were common presenting signs,
occurring in 42 and 36 eyes, respectively. Seventy-four eyes were managed surgically
with keratectomy only (n = 44) or keratectomy followed by a graft procedure (n = 30).
Sequestra recurred in 16 eyes in the study. There was no significant difference in the
rate of recurrence between eyes that received a graft procedure (n = 5) and eyes that
did not (n = 11) (P = 0.56). Complications following transection of conjunctival pedicle
grafts were observed. Brown to black discoloration of noncorneal tissue and therapeutic
biomaterials was observed, including discoloration of both viable and apparently
nonviable grafted conjunctival tissue, small intestinal submucosa graft material and
bandage contact lenses.
Top of Page
Craniofacial malformation - see also mucolipidosis II
Burmese kittens
The cranial cavity is enlarged, cerebral hemispheres duplicated, eyes missing or small,
there may be no nostrils or naval cavities.
Anon. 1982. Craniofacial malformation in Burmese kittens. Feline Practice. 12 6 32-33
D
Deafness
Dermatosparaxis - see Ehlers-Danlos syndrome
Diabetes mellitus
Diaphragmatic hernia
Distal axonopathy
Dwarfism
Dystocia
Deafness in white cats
See article on heredity of this by Roy Robinson.
Diabetes mellitus - type 2
Burmese, domestic
Rand J. 1999 Current understanding of feline diabetes: part 1, pathogenesis.J Feline Med
Surg. 1(3):143-53.
Type-1 diabetes, resulting from immune-mediated destruction of beta cells, appears to
be rare in cats. Type-2 diabetes, characterised by inadequate insulin secretion and
impaired insulin action, is the most common form of diabetes in cats. Other specific
forms of diabetes constitute a substantial minority of cases. The most common is
pancreatic destruction from pancreatic adenocarcinoma. Less frequent causes are insulin
resistance from other endocrinopathies including acromegaly. Diabetes in cats is
characterised by variable loss of insulin secretory capacity and insulin resistance. Glucose
toxicity, islet amyloid-deposition, and pancreatitis contribute to further loss of beta cells
and failure of insulin secretion. A significant number of cats undergo remission of their
diabetes, usually 1-3 months after good glycaemic control is instituted. Obesity, old age,
and Burmese breed are recognised risk factors for the development of diabetes in cats.
Rand JS, Fleeman LM, Farrow HA, Appleton DJ, Lederer R. 2004 Canine and feline
diabetes mellitus: nature or nurture? J Nutr. 134(8 Suppl):2072S-2080S.
There is evidence for the role of genetic and environmental factors in feline and canine
diabetes. Type 2 diabetes is the most common form of diabetes in cats. Evidence for
genetic factors in feline diabetes includes the overrepresentation of Burmese cats with
diabetes. Environmental risk factors in domestic or Burmese cats include advancing age,
obesity, male gender, neutering, drug treatment, physical inactivity, and indoor
confinement. High-carbohydrate diets increase blood glucose and insulin levels and may
predispose cats to obesity and diabetes. Low-carbohydrate, high-protein diets may help
prevent diabetes in cats at risk such as obese cats or lean cats with underlying low
insulin sensitivity. Evidence exists for a genetic basis and altered immune response in the
pathogenesis of canine diabetes. Seasonal effects on the incidence of diagnosis indicate
that there are environmental influences on disease progression. At least 50% of diabetic
dogs have type 1 diabetes based on present evidence of immune destruction of betacells. Epidemiological factors closely match those of the latent autoimmune diabetes of
adults form of human type 1 diabetes. Extensive pancreatic damage, likely from chronic
pancreatitis, causes approximately 28% of canine diabetes cases. Environmental factors
such as feeding of high-fat diets are potentially associated with pancreatitis and likely
play a role in the development of pancreatitis in diabetic dogs. There are no published
data showing that overt type 2 diabetes occurs in dogs or that obesity is a risk factor for
canine diabetes. Diabetes diagnosed in a bitch during either pregnancy or diestrus is
comparable to human gestational diabetes.
Top of Page
Diaphragmatic hernia - see Ehlers Danlos
Most diaphragmatic hernias are traumatic in origin (usually post road accident).
References
Stork CK, Hamaide AJ, Schwedes C, Clercx CM, Snaps FR, Balligand MH. 2003
Hemiurothorax following diaphragmatic hernia and kidney prolapse in a cat.J Feline Med
Surg. 5(2):91-6
A 3-year-old cat was presented with increasing dyspnoea over the past four days.
Unilateral pleural effusion was diagnosed and a modified transudate was drained several
times. Surgical exploration revealed intra-thoracic prolapse of the left kidney and partial
herniation of the spleen through a dorsal, circumferential diaphragmatic tear.
Biochemical analysis of the pleural fluid confirmed urothorax. Due to excessive fibrin
deposit on the well-vascularised kidney it was impossible to re-establish left urinary
pathways. Left-sided nephrectomy and diaphragmatic herniorrhaphy were performed.
Postoperative recovery was uneventful and complete. This is the first report of an
urothorax in veterinary medical literature.
White JD, Tisdall PL, Norris JM, Malik R. 2003 Diaphragmatic hernia in a cat mimicking a
pulmonary mass. J Feline Med Surg. (3):197-201.
A seven-year-old castrated British shorthair cross cat was presented for coughing of fiveweeks duration. Thoracic radiographs and an unguided bronchoalveolar lavage showed
changes consistent with inflammatory airway disease. In addition, a soft tissue density
was evident in the thoracic films between the heart and the diaphragm. Exploratory
thoracotomy demonstrated a diaphragmatic hernia, probably congenital in origin, with
incarceration of a portion of the hepatic parenchyma. The herniated portion of liver was
resected surgically and the defect in the diaphragm closed. The cat was given a 10-day
course of doxycycline post-operatively and the cough did not recur subsequently. In
retrospect, the hernia was potentially an incidental problem, the cat's coughing being
attributable to inflammatory airway disease.
Distal axonopathy
Birman.
Kittens of 8 to 10 weeks of age with slowly progressive posterior ataxia.
References:
Moreau PM, Vallat JM, Hugon J, Leboutet MJ, Vandevelde M. 1991 Peripheral and central
distal axonopathy of suspected inherited origin in Birman cats.Acta Neu ropathol (Berl).
82(2):143-6.
Three female cats, littermates born from clinically normal parents, were examined at 8 to
10 weeks of age because of a slowly progressive posterior ataxia. Another cat from a
previous litter from the same parents suffered from similar neurological symptoms.
Histopathological examination of the nervous tissues of these animals revealed
degeneration of axons and myelinopathy in a distal distribution pattern. Both peripheral
nerves and central nervous system were involved. The central nervous system lesions
were most prominent in the lateral pyramidal tracts of the spinal cord, the fasciculi gracili
of the dorsal column in the cervical spinal cord and the cerebellar vermian white matter.
In the PNS numerous degenerating nerve fibers were found in the sciatic nerves but not
in the spinal nerve roots. Our findings show that these cats were suffering from a
hereditary multisystem degeneration with a distribution pattern of the lesions suggestive
of a distal axonopathy.
Dwarfism
Domestic, Siamese
Associated with lysosomal storage disease of the liver, these cats die between 1 and 4
months of age. See also gangliosidosis, Mucopolysaccharidosis, Mucopolysaccharidosis
VI. Uneven litter sizes have been reported in cats infected with feline coronavirus.
Hegreberg GA, Norby DE. 1973. An inherited storage disease of cats. Fed. Proc. 32 821
Hegreberg GA, Norby DE, Hamilton MJ. 1974. Lysosomal enzyme changes in an inherited
dwarfism of cats. Fed Proc. 33 598.
Top of Page
Dystocia
Devon Rex, Persian and Siamese-type
Gunn-Moore DA, Thrusfield MV. 1995 Feline dystocia: prevalence, and association with
cranial conformation and breed.Vet Rec. 136(14):350-3.
The litter prevalence of feline dystocia was investigated using a questionnaire survey of
cat breeders. Information was obtained on 2928 litters, from 735 queens. Dystocia was
reported to have occurred in 5.8 per cent of litters. The level of dystocia in individual
breeds ranged from 0.4 per cent of litters born in a large colony of cats of mixed
breeding, to 18.2 per cent of litters in the Devon rex. Pedigree litters were at significantly
higher risk than litters of cats of mixed breeding (odds ratio: 22.6). Relatively high levels
of dystocia were identified in Siamese-type, Persian and Devon rex litters, whereas cats
of mixed breeding showed a relatively low litter prevalence. Dolicocephalic and
brachycephalic types were found to have significantly higher levels of dystocia than
mesocephalic cats.
E
Ehlers-Danlos Syndrome
Encephalomyelopathy
Ehlers-Danlos Syndrome
Cutaneous asthenia is a connective tissue disease primarily of dogs and cats, resembling
Ehlers-Danlos syndrome in man. It has also been reported in a rabbit. The skin is
hyperextensible, thin, and fragile.
No breed predilection recorded so far.
References
Benitah N, Matousek JL, Barnes RF, Lichtensteiger CA, Campbell KL. 2004
Diaphragmatic and perineal hernias associated with cutaneous asthenia in a cat. J Am
Vet Med Assoc. Mar 1;224(5):706-9, 698.
An 11-year-old cat was evaluated because of dyspnea. Since 11 months of age, the cat
had hyperextensibility of the skin consistent with cutaneous asthenia. Radiographic
examination revealed a diaphragmatic hernia with intestinal loops in the thorax. Electron
microscopic examination of skin specimens revealed collagen fibers of highly variable
diameter, consistent with cutaneous asthenia. The diaphragmatic hernia was surgically
repaired and healed well. Four weeks later, a left-sided perineal hernia was repaired
surgically, and 4 months later, a right-sided perineal hernia was repaired surgically and
colopexy and cystopexy were performed. All surgical procedures were successful and
tissues healed well. Dermatosparaxis is a rare hereditary disorder that commonly results
in cutaneous fragility and hyperextensibility in affected animals. The diagnosis depends
on clinical findings and light and electron microscopic changes in affected tissues.
Surgical repair can be performed successfully in an affected cat, and healing of incisions
can occur without complications.
Freeman LJ, Hegreberg GA, Robinette JD, Kimbrell JT. 1989 Biomechanical properties of
skin and wounds in Ehlers-Danlos syndrome.Vet Surg. 8(2):97-102.
The biomechanical properties of wounded and nonwounded skin were studied in three
dogs and three cats affected with type I Ehlers-Danlos syndrome. Three nonaffected dogs
and one nonaffected cat served as controls. Samples of wounded skin and adjacent
normal skin were harvested at days 75, 138, 141, 144, 147, and 150. Samples were
subjected to uniaxial tensile strength testing. Tensile strength, energy absorbed, and site
of failure were recorded. In the dogs with Ehlers-Danlos syndrome, there was an increase
in tensile strength in samples containing a scar over adjacent intact skin. In nonaffected
dogs, affected cats and the nonaffected cat, the nonwounded skin samples had greater
tensile strength. The energy absorbed by the skin samples during testing was highly
correlated with tensile strength.
Freeman LJ, Hegreberg GA, Robinette JD. 1989 Cutaneous wound healing in EhlersDanlos syndrome.Vet Surg. 18(2):88-96.
Wound healing in five dogs and five cats affected with a connective tissue dysplasia
resembling Ehlers-Danlos syndrome of humans was compared with wound healing in 10
nonaffected animals. Six skin incisions on the lateral aspects of the thorax and abdomen
of each animal were sutured and assessed daily for 75 days for evidence of healing. All
wounds in nonaffected dogs, affected cats, and nonaffected cats healed by first intention.
Three incisions in affected dogs had dehiscence of all or part of the incision line and
healed by granulation, contraction, and epithelialization. Biopsies taken at 3, 6, 9, 12,
15, and 75 days were compared histologically to determine if there were any differences
in rates of healing between affected and nonaffected animals. Epidermal thickening and
scab formation were noted at days 3 and 6 in both affected and nonaffected animals.
Infiltration with mononuclear cells and fibroplasia steadily increased from day 6 to day 15
in all groups. Collagen fibril formation was evident by day 9. At day 75, incision sites
were recognized by fine, more compact collagen bundles and lack of adnexal structures,
as compared with the adjacent dermis in both affected and nonaffected animals.
Although delayed wound healing has been reported to be a complication of Ehlers-Danlos
syndrome in humans, using clinical and histologic criteria, wound healing in dogs and
cats with Ehlers-Danlos syndrome appears to be similar to nonaffected animals.
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Encephalomyelopathy
Birman
Onset 2-5 months of age. Hindlimb paresis and ataxia, which progresses to paralysis.
Bilateral nuclear cataracts may be present. Condition is inherited. Histopathology: spongy
changes, vacuolation and wallerian degeneration, mainly in thoracolumbar spinal cord.
Diffuse lesions also present in brain. No treatment.
F
Facial dysmorphia - see Mucolipidosis II
Factor (coagulation) VIII deficiency - see Hemophilia A
Factor (coagulation) IX deficiency - see Haemophilia B
Factor (coagulation) XII deficiency - see Hageman
Familial hyperlipaemia
Feline infectious peritonitis - predisposition to development of
Feline leukocyte antigen restricted polymorphism
Flat-chested kittens
Familial hyperlipaemia
Siamese
Feline infectious peritonitis - predisposition to development of
Abyssinians, Bengals, Birmans, Himalayans, Ragdolls and Rexes are MORE at risk
Burmese, Exotic Shorthairs, Manxes, Persians, Russian Blues and Siamese cats are NOT
AT INCREASED risk for development of FIP.
References
Pesteanu-Somogyi LD, Radzai C, Pressler BM. 2005 Prevalence of feline infectious
peritonitis in specific cat breeds. J Feline Med Surg.
Although known that purebreed cats are more likely to develop feline infectious
peritonitis (FIP), previous studies have not examined the prevalence of disease in
individual breeds. All cats diagnosed with FIP at a veterinary teaching hospital over a 16year period were identified. Breed, sex and reproductive status of affected cats were
compared to the general cat population and to mixed breed cats evaluated during the
same period. As with previous studies sexually intact cats and purebreed cats were
significantly more likely to be diagnosed with FIP; males and young cats also had a
higher prevalence of disease. Abyssinians, Bengals, Birmans, Himalayans, Ragdolls and
Rexes had a significantly higher risk, whereas Burmese, Exotic Shorthairs, Manxes,
Persians, Russian Blues and Siamese cats were not at increased risk for development of
FIP. Although additional factors doubtlessly influence the relative prevalence of FIP, this
study provides additional guidance when prioritizing differentials in ill purebreed cats.
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Feline leukocyte antigen DRB restricted polymorphism
Burmese
Reference
Kennedy LJ, Ryvar R, Brown JJ, Ollier WE, Radford AD. 2003 Resolution of complex
feline leukocyte antigen DRB loci by reference strand-mediated conformational analysis
(RSCA). Tissue Antigens. 62(4):313-23.
The DRB genes of the domestic cat are highly polymorphic. Studies based on clonal
sequence analysis have suggested the existence of two distinct loci within individual
animals and good evidence for 24 distinct FLA-DRB alleles. This variability, the
complexity of clonal sequence analysis and its susceptibility to PCR-induced artefacts has
represented a bottleneck to further progress. In this study we have applied reference
strand-mediated conformational analysis (RSCA) to FLA-DRB. This protocol has been
shown to be highly reproducible. Using five reference strands including two derived from
non-domestic felines, we could distinguish 23 FLA-DRB alleles. We used RSCA to explore
genetic polymorphism of FLA-DRB in 71 cats including 31 for which clonal sequence
analysis was also available. On average, RSCA identified 0.9 more alleles within cats than
clonal sequence analysis. Reference strand-mediated conformational analysis was also
able to identify animals containing new alleles that could be targeted for sequence
analysis. Analysis of allele patterns showed clear evidence for different allele distributions
between breeds of cats, and suggested the Burmese breed may have highly restricted
FLA-DRB polymorphism. Results from two families provided clear evidence for variation
in the number of DRB genes on different haplotypes, with some haplotypes carrying two
genes and some containing three. This study highlights the utility of RSCA for the
resolution of complex amplicons containing up to six distinct alleles. A simple, rapid
method for characterizing FLA-DRB makes possible studies on vaccine response and
susceptibility/resistance to viral infections, which are a significant clinical problem in cats.
Flat-chested kittens
Burmese
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G
Gastric adenocarcinoma
Gastritis - chronic
Gangliosidosis
Gingivitis - hyperplastic, early onset
Glaucoma
Glycogen storage diseases
Chronic gastritis and gastric adenocarcinoma
Persian
Clinical signs: vomiting, hematemesis, intermittent melena, and weight loss
Reference
Dennis MM, Bennett N, Ehrhart EJ. 2006 Gastric adenocarcinoma and chronic gastritis in
two related Persian cats. Vet Pathol. 43(3):358-62
Gangliosidosis
Domestic shorthair, Korat
Clinical signs: slowly progressive neurological dysfunction, premature thymic involution,
stunted growth, and premature death. Circulating monocytes and lymphocytes showed
the presence of single or multiple empty vacuoles.
Mode of inheritance: autosomal, recessively inherited.
GM1 gangliosidosis
References
Cox NR, Morrison NE, Sartin JL, Buonomo FC, Steele B, Baker HJ. 1999 Alterations in the
growth hormone/insulin-like growth factor I pathways in feline GM1
gangliosidosis.Endocrinology. 140(12):5698-704.
Cats affected with feline GM1 gangliosidosis, an autosomal, recessively inherited,
lysosomal enzymopathy, have progressive neurological dysfunction, premature thymic
involution, stunted growth, and premature death. Although increased membrane GM1
gangliosides can result in increased apoptosis of thymocytes, there is not a direct
correlation between thymocyte surface GM1 and thymic apoptosis in vivo, suggesting
that other factors may be important to the pathogenesis of thymic involution in affected
cats. Because GH and insulin-like growth factor I (IGF-I) are important hormonal
peptides supporting thymic function and affecting growth throughout the body,
particularly in the prepubescent period, several components of the GH/IGF-I pathway
were compared in GM1 mutant and normal age-matched cats. GM1 mutant cat serum
IGF-I concentrations were reduced significantly compared with those in normal cats by
150 days of age, and GM1 mutant cats had no peripubertal increase in serum IGF-I.
Additionally, IGF-binding protein-3 was reduced, and IGF-binding protein-2 was elevated
significantly in GM1 mutant cats more than 200 days of age. Liver IGF-I messenger RNA
and pituitary GH messenger RNA both were reduced significantly in GM1 mutant cats.
After stimulation by exogenous recombinant canine GH, serum IGF-I levels increased
significantly in GM1 mutant cats, indicating that GH/IGF-I signaling pathways within the
liver remain intact and suggesting that alterations are external to the liver.
De Maria R, Divari S, Bo S, Sonnio S, Lotti D, Capucchio MT, Castagnaro M. 1998 Betagalactosidase deficiency in a Korat cat: a new form of feline GM1-gangliosidosis.Acta
Neuropathol (Berl). 96(3):307-14.
A 7-month-old Korat cat was referred for a slowly progressive neurological disease.
Circulating monocytes and lymphocytes showed the presence of single or multiple empty
vacuoles and blood leukocytes enzyme assay revealed a very low beta-galactosidase
activity level (4.7 nmol/mg per h) as compared to unaffected parents and relatives.
Histologically, the cat, euthanized at the owner request at 21 months of age, presented
diffuse vacuolization and enlargement of neurons throughout the brain, spinal cord and
peripheral ganglia, severe cerebellar neuronal cell loss, and moderate astrocytosis.
Stored material was stained with periodic acid-Schiff on frozen sections and with the
lectins Ricinus conmmunis agglutinin-I, concanavalin A and wheat germ agglutinin on
paraffin-embedded sections. Ultrastructurally, neuronal vacuoles were filled with
concentrically whorled lamellae and small membrane-bound vesicles. In the affected cat,
beta-galactosidase activity was markedly reduced in brain (18.9%) and liver (33.25%),
while total beta-hexosaminidase activity showed a remarkable increase. Quantitation of
total gangliosides revealed a 3-fold increase in brain and 1.7-fold in liver of affected cat.
High-performance thin layer chromatography (HPTLC) detected a striking increase of
GM1-ganglioside. On densitometric analysis of HPTLC bands, the absorption of GM1ganglioside band was 98.52% of all stained bands (GD1a, GD1b, GT1b). Based on clinical
onset, morphological and histochemical features, and biochemical findings, the Korat cat
GM1-gangliosidosis is comparable with the human type II (juvenile) form. However,
clinical progression, survival time and level of beta-galactosidase deficiency do not
completely fit with those of human type II GM1-gangliosidosis. The disease in the Korat
cat is also different from other reported forms of feline GM1-gangliosidosis.
Top of Page
Steiss JE, Baker HJ, Braund KG, Cox NR, Wright JC.1997 Profile of electrodiagnostic
abnormalities in cats with GM1 gangliosidosis.Am J Vet Res. 58(7):706-9.
OBJECTIVE: To determine which electrodiagnostic tests yield abnormal findings in cats
with GM1 gangliosidosis, and to determine the approximate age of onset of
electrodiagnostic abnormalities. ANIMALS: Cats (28 to 335 days old) affected with GM1
gangliosidosis (n = 11) and unaffected controls (n = 14). PROCEDURE: Cats were
grouped by age: group 1, < or = 90 days, group 2, 91 to 200 days; and group 3, > 200
days. Electrodiagnostic tests were conducted, including needle electromyography, motor
and sensory nerve conduction velocity, spinal evoked potentials, and brainstem auditory
evoked potentials. Results for control and affected cats were compared, using the general
linear model for ANOVA and Scheffe's test for multiple comparisons. RESULTS: Needle
electromyography did not reveal abnormal spontaneous activity in skeletal muscles of
any cat; furthermore, statistical analysis did not indicate significant difference between
affected and control groups for nerve conduction velocity, confirming that degeneration
of peripheral nerve fibers is not a feature of this disease. However, spinal evoked
potentials were abnormal in group-3 cats; conduction velocity within sensory pathways in
the cranial part of the spinal cord was significantly slower in GM1-affected cats (P =
0.0002). Brainstem auditory evoked responses also were abnormal: wave V (generated
in the region of the pons) had prolonged latency in cats of groups 2 and 3 (P = 0.0003
and 0.0001, respectively, at 90 decibels sound pressure level). In the oldest cats,
latencies for earlier waves within the auditory pathway also were prolonged; wave I
(generated by the cochlear nerve) was prolonged in group-3 cats (P = 0.0423).
CONCLUSIONS: Motor and sensory nerve conduction velocities remained within normal
limits in GM1-affected cats. However, spinal evoked potentials indicated slowing in
conduction velocity along the cranial part of the spinal cord in group 3 cats. Brainstem
auditory evoked responses indicated prolonged latencies in cats of groups 2 and 3.
GM2 gangliosidosis
Martin DR, Krum BK, Varadarajan GS, Hathcock TL, Smith BF, Baker HJ.2004 An
inversion of 25 base pairs causes feline GM2 gangliosidosis variant.Exp Neurol.
187(1):30-7.
In G(M2) gangliosidosis variant 0, a defect in the beta-subunit of lysosomal beta-Nacetylhexosaminidase (EC 3.2.1.52) causes abnormal accumulation of G(M2) ganglioside
and severe neurodegeneration. Distinct feline models of G(M2) gangliosidosis variant 0
have been described in both domestic shorthair and Korat cats. In this study, we
determined that the causative mutation of G(M2) gangliosidosis in the domestic shorthair
cat is a 25-base-pair inversion at the extreme 3' end of the beta-subunit (HEXB) coding
sequence, which introduces three amino acid substitutions at the carboxyl terminus of
the protein and a translational stop that is eight amino acids premature. Cats
homozygous for the 25-base-pair inversion express levels of beta-subunit mRNA
approximately 190% of normal and protein levels only 10-20% of normal. Because the
25-base-pair inversion is similar to mutations in the terminal exon of human HEXB, the
domestic shorthair cat should serve as an appropriate model to study the molecular
pathogenesis of human G(M2) gangliosidosis variant 0 (Sandhoff disease).
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Muldoon LL, Neuwelt EA, Pagel MA, Weiss DL. 1994 Characterization of the molecular
defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease).Am J Pathol.
144(5):1109-18.
The Korat cat provides an animal model for type II GM2-gangliosidosis (Sandhoff
disease) that may be suitable for tests of gene replacement therapy with the HEXB gene
encoding the beta subunit of the beta-hexosaminidases. In the present report, we
examined the brain and liver pathology of a typical Sandhoff-affected cat. We
characterized the feline HEXB complementary DNA (cDNA) and determined the molecular
defect in this feline model. cDNA libraries were produced from one normal and one
affected animal, and cDNA clones homologous to human HEXB were sequenced. In the
affected cDNA clone, the deletion of a cytosine residue at position +39 of the putative
coding region results in a frame shift and a stop codon at base +191. This diseaserelated deletion was consistently detected by sequencing of cloned polymerase chain
reaction amplified reverse transcribed messenger RNA from one more normal Korat and
two additional affected animals. The defect was further demonstrated using single-strand
conformational polymorphism analysis of the polymerase chain reaction products. In
addition, alternative splicing of both normal and affected messenger RNAs was
demonstrated. These results should facilitate the use of this animal model to assess gene
therapy.
Yamato O, Matsunaga S, Takata K, Uetsuka K, Satoh H, Shoda T, Baba Y, Yasoshima A,
Kato K, Takahashi K, Yamasaki M, Nakayama H, Doi K, Maede Y, Ogawa H.GM2gangliosidosis variant 0 (Sandhoff-like disease) in a family of Japanese domestic cats.Vet
Rec. 2004 Dec 4;155(23):739-44.
Erratum in: Vet Rec. 2005 Jan 15;156(3):86.
A five-month-old, female Japanese domestic shorthair cat with proportionate dwarfism
developed neurological disorders, including ataxia, decreased postural responses and
generalised body and head tremors, at between two and five months of age.
Leucocytosis due to lymphocytosis with abnormal cytoplasmic vacuolations was
observed. The concentration of G(M2)-ganglioside in its cerebrospinal fluid was markedly
higher than in normal cats, and the activities of beta-hexosaminidases A and B in its
leucocytes were markedly reduced. On the basis of these biochemical data, the cat was
diagnosed antemortem with G(M2)-gangliosidosis variant 0 (Sandhoff-like disease). The
neurological signs became more severe and the cat died at 10 months of age.
Histopathologically, neurons throughout the central nervous system were distended, and
an ultrastructural study revealed membranous cytoplasmic bodies in these distended
neurons. The compound which accumulated in the brain was identified as G(M2)ganglioside, confirming G(M2)-gangliosidosis. A family study revealed that there were
probable heterozygous carriers in which the activities of leucocyte beta-hexosaminidases
A and B were less than half the normal value. The Sandhoff-like disease observed in this
family of Japanese domestic cats is the first occurrence reported in Japan.
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Glaucoma
Burmese
References
Hampson EC, Smith RI, Bernays ME. 2002 Primary glaucoma in Burmese cats.Aust Vet J.
80(11):672-80.
OBJECTIVE: To document the clinical signs and management of primary glaucoma in
Burmese cats. DESIGN: A retrospective study of six affected Burmese cats, from 1996 to
2001. Procedure Six Burmese cats diagnosed with primary glaucoma were managed over
periods varying from 3 months to 4.5 years. Clinical details were obtained from practice
records. Gonioscopic examination of the drainage or iridocorneal angle in eyes of these
affected cats was made. RESULTS: Six desexed female Burmese cats (ages 7.0 to 10.5
years) presented with complaints of either unilateral (n = 4) or bilateral (n = 2) red eye,
dilated pupil or enlarged eye. In one of the affected cats, one eye had been enucleated
prior to the commencement of the study, thus a total of 11 eyes were examined.
Clinically, all affected eyes (n = 8) had injected episcleral blood vessels and elevated
intraocular pressure. Gonioscopy revealed the presence of nine narrow and two closed
iridocorneal angles. Medical therapy included topical 2% dorzolamide (n = 8), 0.5%
timolol maleate (n = 1), 0.005% latanoprost (n = 1) and 0.5-1.0% prednisolone acetate
(n = 8). Surgery was performed in six eyes using either diode laser (n = 5) and/or
cryothermy (n = 2) and one eye was eviscerated, with implantation of a prosthesis. With
therapy, five affected eyes maintained vision and normal intraocular pressure, one eye
remained blind with normal intraocular pressure, one eye remained blind with elevated
intraocular pressure and one eye was eviscerated. CONCLUSIONS: The Burmese cat may
be predisposed to primary narrow-angle glaucoma. Early diagnosis and continuous
antiglaucoma therapy can help control intraocular pressure and maintain vision.
Gingivitis - hyperplastic, early-onset
Abysinnian, Persian
Clinical signs: hyperemic, proliferative gingivitis
Gingivitis-periodontitis - feline juvenile-onset
DSH, Maine Coon, Siamese
Small stature and have a history of being "sickly" as kittens, often with chronic upper
respiratory disease. Initial oral signs occur just before eruption of adult teeth. Gingival
recession, pocketing, bone loss and furcation exposures are common. Lesions may be
localized or generalized and often first seen in the central lower incisor area.
Reference
Williams CA, Aller MS. 1992 Gingivitis/stomatitis in cats. Veterinary Clinics of North
America. 22 6 1361 - 1383
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Glycogen storage diseases
Type IV glycogen storage disease
Norwegian Forest Cats
Reference
Fyfe JC, Giger U, Van Winkle TJ, Haskins ME, Steinberg SA, Wang P, Patterson DF.1992
Glycogen storage disease type IV: inherited deficiency of branching enzyme activity in
cats.Pediatr Res.32(6):719-25.
Glycogen storage disease type IV due to branching enzyme deficiency was found in an
inbred family of Norwegian forest cats, an uncommon breed of domestic cats. Skeletal
muscle, heart, and CNS degeneration were clinically apparent and histologically evident
in affected cats older than 5 mo of age, but cirrhosis and hepatic failure, hallmarks of the
human disorder, were absent. Beginning at or before birth, affected cats accumulated an
abnormal glycogen in many tissues that was determined by histochemical, enzymatic,
and spectral analysis to be a poorly branched alpha-1,4-D-glucan. Branching enzyme
activity was less than 0.1 of normal in liver and muscle of affected cats and partially
deficient (0.17-0.75 of normal) in muscle and leukocytes of the parents of affected cats.
These data and pedigree analysis indicate that branching enzyme deficiency is a simple
autosomal recessive trait in this family. This is the first reported animal model of human
glycogen storage disease type IV. A breeding colony derived from a relative of the
affected cats has been established.
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H
Hemophilia A (factor VIII deficiency)
Haemophilia B - factor IX deficiency - Christmas disease
Hageman (coagulation factor XII) deficiency
Heart defect - see Ventricular Septal Defect
Heart disease - Hypertrophic cardiomyopathy, Mucolipidosis II; Myocardial disease;
Patent Ductus Arteriosis and Ventricular Septal Defect
Hernia
Hip dysplasia
Hypokalaemic myopathy
Haemophilia B - factor IX deficiency - Christmas disease
British shorthair, Domestic
Clinical signs: regenerative anaemia, haemorrhage, subcutaneous haematomas,
prolonged bleeding times, shifting lameness.
References
Dillon AR, Boudreaux MK. 1988 Combined factors IX and XII deficiencies in a family of
cats.J Am Vet Med Assoc. 193(7):833-4.
Combined factors IX and XII deficiencies were detected in a family of cats in which 2
male kittens had bleeding diathesis. The combination of factors IX and XII deficiencies in
one male kitten did not appear to exacerbate bleeding when compared with a sole
deficiency of factor IX in its male sibling. Neutering of carrier females and affected males
was recommended. Blood transfusions before castration of affected males was advised.
Goree M, Catalfamo JL, Aber S, Boudreaux MK. 2005 Characterization of the mutations
causing hemophilia B in 2 domestic cats.J Vet Intern Med. 2005 Mar-Apr;19(2):200-4.
The purpose of the present study was to determine the normal sequence for the gene
encoding factor IX in cats and to characterize the genetic basis for hemophilia B in 2
unrelated male, domestic, mixed-breed cats. Genomic DNA sequence for the entire
coding region of the factor IX gene was determined in the affected cats and compared to
the sequence obtained from a healthy cat. The factor IX gene in cats encodes a mature
protein consisting of 420 amino acids, unlike genes in humans and dogs that encode 415
and 413 amino acid proteins, respectively. Affected cat 1 had a single nucleotide change
in exon 8 at the 1st nucleotide position of the codon encoding an arginine (CGA to TGA)
at amino acid position 338. This mutation would be predicted to result in the appearance
of a premature stop codon in the portion of the gene encoding much of the catalytic
domain of the protein. Affected cat 2 had a single nucleotide change in exon 4 at the 2nd
nucleotide position of the codon encoding amino acid 82 (TGT to TAT), which would be
predicted to result in the substitution of a tyrosine for a cysteine. This substitution would
likely result in disruption of a disulfide bond crucial to normal protein structure and
function. This study represents the 1st time hemophilia B has been characterized at the
molecular level in cats.
Lutze G, Kutschmann K, Furst K, Schneppenheim R. 2005 Hemophilia B (factor IX
deficiency) with concomitant factor XII degradation in a male crossbreed cat. Berl Munch
Tierarztl Wochenschr. 118(5-6):255-60.
A male cat suffered from a severe haemorrhagic disorder manifesting as deep, partly
infected cutaneous haematomas, enhanced and prolonged bleeding after injuries and
subsequent lameness at several occasions. Bleeding resulted in severe anaemia with
haematocrit falling to as low as 0.10 L/L. Haemophilia B was diagnosed based on factor
IX deficiency with a functional residual activity of 5% and factor IX antigen of 8%,
respectively. Additionally, factor XII activity was reduced to 32% of normal. The
mutation 31217G==>A in exon 8 of the factor IX gene, predicting the amino acid
exchange G366R was identified as the cause of moderate factor IX deficiency. This is the
first mutation identified in cats with haemophilia B. Treatment was limited to local
therapy and palliation, insufficient to prevent lethal outcome due to severe anaemia.
Maggio-Price L, Dodds WJ. 1993 Factor IX deficiency (hemophilia B) in a family of
British shorthair cats.J Am Vet Med Assoc. 203(12):1702-4.
This report describes the clinical findings of a British shorthair cat with hemophilia B, the
family pedigree surrounding the case, and how this disorder can be perpetuated in rare
breeds of cats that may be inbred by necessity. Young cats with histories of bleeding
episodes following elective or other surgical procedures, periodic shifting lamenesses, or
the development of subcutaneous hematomas should be suspect for an inherited
coagulation disorder. Hemophilia A (factor VIII deficiency) or hemophilia B (factor IX
deficiency) are the most likely causes, although other inherited bleeding disorders also
have been recognized in cats.
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Hageman (coagulation factor XII) deficiency
Domestic
Mode of inheritance: autosomal recessive
References
Dillon AR, Boudreaux MK. 1988 Combined factors IX and XII deficiencies in a family of
cats.J Am Vet Med Assoc. 193(7):833-4.
Combined factors IX and XII deficiencies were detected in a family of cats in which 2
male kittens had bleeding diathesis. The combination of factors IX and XII deficiencies in
one male kitten did not appear to exacerbate bleeding when compared with a sole
deficiency of factor IX in its male sibling. Neutering of carrier females and affected males
was recommended. Blood transfusions before castration of affected males was advised.
Kier AB, Bresnahan JF, White FJ, Wagner JE. The inheritance pattern of factor XII
(Hageman) deficiency in domestic cats.Can J Comp Med. 1980 Jul;44(3):309-14.
Measurements of coagulation factor XII levels in F1 progeny of a cat having factor XII
deficiency revealed an autosomal recessive pattern similar to that reported in humans
(Hageman trait). A study of the pedigree of the colony revealed that F1 kittens had
approximately 50% factor XII activity while kittens produced by backcrossing with an F1
progeny possessed an average of 50% and a less than 2% factor XII activity in an
approximate 1:1 ratio. Kittens having an average of 50% factor XII activity were
postulated heterozygous for the trait while progeny with less than 2% activity were
considered genetically homozygous.
Hernia - hernias can be secondary to Ehlers-Danlos syndrome
Diaphragmatic hernia
Hiatus hernia
Perineal hernia
Umbillical hernia
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Hip dysplasia
Clinical signs: hindlimb lameness, history of constipation
References
Keller GG, Reed AL, Lattimer JC, Corley EA. 1999 Hip dysplasia: a feline population
study.Vet Radiol Ultrasound. 40(5):460-4.
The study population consisted of cats presented to the University of Missouri-Columbia
Veterinary Medical Teaching Hospital from January 1, 1991 through December 31, 1995.
Ventrodorsal radiographs including the pelvic region were evaluated for radiographic
evidence of hip dysplasia. Each radiograph was evaluated independently by three boardcertified veterinary radiologists and a consensus normal of dysplastic evaluation was
determined. There were 684 cats from 12 breeds. The data derived from this study
indicate the frequency of feline hip dysplasia in this population to be about 6.6%
(45/684) and that the incidence appears to be breed dependent. Also, the radiographic
appearance of hip dysplasia in cats is different than in dogs. A shallow acetabulum with
remodeling and proliferation involving the cranio-dorsal acetabular margin were the most
common radiographic signs. Minimal remodeling of the femoral neck was seen.
Patsikas MN, Papazoglou LG, Komninou A, Dessiris AK, Tsimopoulos G. 1998 Hip
dysplasia in the cat: a report of three cases. J Small Anim Pract. 39(6):290-4.
Hip dysplasia was diagnosed in three cats. Two were presented with a history of hindlimb
lameness and the other had a history of constipation. All were confined for two weeks
and showed considerable clinical improvement. At follow-up examination the cats were
free of clinical signs despite the deterioration in the radiological appearance of their hips.
Luxation or subluxation of the hips, insufficient development of the craniolateral
acetabular edges, loss of the arched shape of the cranial subchondral acetabular bones,
shallow acetabula and secondary degenerative changes on the femoral heads and necks
were the main radiological findings in the affected cats.
Hypertrophic cardiomyopathy
Breeds: British Shorthair, Maine Coon, Ragdolls
Clinical signs: sudden death, thickened wall of left ventricle on echocardiography.
Ferasin (2009) provides best review of HCM this author has ever seen.
Mode of inheritance: autosomal dominant mode in Maine Coon and maybe also in
British Shorthair and Ragdolls (Ferasin, 2009)
References
Ferasin L. 2009 Feline myocardial disease. 1: Classification, pathophysiology and clinical
presentation. J Feline Med Surg. 11(1):3-13.
Meurs KM, Sanchez X, David RM, Bowles NE, Towbin JA, Reiser PJ, Kittleson JA, Munro
MJ, Dryburgh K, Macdonald KA, Kittleson MD. 2005 A cardiac myosin binding protein C
mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy. Hum Mol
Genet. 14(23):3587-93.
Hypokalaemic myopathy
Burmese
Clinical signs: periodic muscle weakness and cervical ventroflexion, onset can be as
early as 10 weeks old.
Mode of inheritance: homozygote recessive
References
Gaschen F, Jaggy A, Jones B. 2004 Congenital diseases of feline muscle and
neuromuscular junction. J Feline Med Surg. (6):355-66.
Although muscle diseases occur relatively rarely in cats, a number of congenital feline
myopathies have been described over the last 20 years and are reviewed in this paper.
Some of them have been reported exclusively in specific breeds, including the
hypokalaemic myopathy of Burmese cats, type IV glycogen storage disease in Norwegian
Forest cats, or the myopathy of Devon Rex. Other congenital disorders of muscle and
neuromuscular junction such as myotonia congenita, dystrophin-deficient hypertrophic
feline muscular dystrophy, laminin alpha2 deficiency, or congenital myasthenia gravis
may occur in any cat. A systematic approach is essential in order to efficiently obtain a
timely diagnosis in cats showing signs of muscle disease. After a thorough clinical
examination, this approach includes blood analyses (eg, serum concentration of muscle
enzymes), electrophysiology where available (electromyography, nerve conduction
studies), and sampling of muscle biopsies for histological, histochemical and
immunohistochemical evaluation. When available, detection of healthy carriers of these
genetic disorders is important to eliminate the gene mutations from breeding families.
Clinicians regularly receiving feline patients must have a good knowledge of congenital
feline myopathies and the features which enable a diagnosis to be made and prognosis
given. Besides preserving or restoring the well-being of the myopathic patient, rapid and
efficient information and counselling of the breeders are of central importance in order to
prevent the recurrence of the problem in specific breeding lines.
Jones BR, Swinney GW, Alley MR. 1988 Hypokalaemic myopathy in Burmese kittens.N Z
Vet J. 36(3):150-1.
Since 1984 there have been a number of reports of polymyopathy in cats characterised
by clinical signs of generalised weakness of the limb and neck muscles. In most of these
cases the polymyopathy was associated with a concurrent hypokalaemia. A direct causal
relationship was not established in one series of cases, but in the second excessive urine
potassium loss with decreased potassium intake was suspected. It was concluded by
these authors that increased urinary potassium secretion was a basic response to renal
dysfunction in cats. Periodic muscle weakness has also been recognised in young
Burmese kittens (10 weeks to one year) which was characterised by ventroflexion of the
neck, elevated creatinine phosphokinase (CPK) activity and intermittent hypokalaemia.
Lantinga E, Kooistra HS, van Nes JJ. 1998 Periodic muscle weakness and cervical
ventroflexion caused by hypokalemia in a Burmese cat. Tijdschr Diergeneeskd. 123(1415):435-7.
A 2-year-old female Burmese cat was referred to the University Hospital of Companion
Animals of Utrecht University because of periodic muscle weakness and cervical
ventroflexion. Laboratory examinations revealed hypokalemia. The combination of breed,
clinical signs and hypokalemia warranted the diagnosis of 'periodic hypokalemic
myopathy', a homozygote recessive hereditary disease in Burmese cats. Potassium
supplementation resulted in complete disappearance of the signs. Possible causes of
hypokalemia in the cat are discussed.
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L
Laminin alpha2 deficiency - see muscular dystrophy
Lipoprotein lipase deficiency - congenital
Lysosomal storage disease
Lipoprotein lipase deficiency - congenital
Clinical signs: fasting hyperlipaemia, lipaemia retinalis, peripheral neuropathies and
subcutaneous xanthomas
References
Johnstone AC, Jones BR, Thompson JC, Hancock WS. 1990 The pathology of an
inherited hyperlipoproteinaemia of cats. J Comp Pathol. 102(2):125-37
The gross and histological features of congenital lipoprotein lipase deficiency are
described in eight cats. The main histological features could be directly related to the
presence of the chylomicronaemia. They consisted of lipid accumulation within clear
vacuoles or ceroid accumulation within residual bodies in parenchymatous organs such as
the liver, spleen, lymph nodes, kidney and adrenal gland. Xanthomata were seen in
various sites, probably arising either from frank haemorrhage or the leakage of lipid-rich
plasma perivascularly. As in human lipoprotein lipase deficiency there was no evidence of
the formation of atherosclerotic plaques. Focal degenerative changes were, however,
present within arteries and this may indicate blood vessel weakness and explain the
tendency to haemorrhage and xanthomata/granulomata formation. The degeneration and
fibrous replacement of glomeruli and nephrons possibly arises from pressure necrosis of
adjacent xanthomata and alterations in renal blood flow.
Jones BR, Wallace A, Harding DR, Hancock WS, Campbell CH 1983.Occurrence of
idiopathic, familial hyperchylomicronaemia in a cat. Vet Rec. 112(23):543-7.
Primary hyperlipoproteinaemia (hyperchylomicronaemia with slight very low density
lipoprotein elevation) is described in two related male cats. Fasting hyperlipaemia,
lipaemia retinalis and subcutaneous xanthomas were detected on clinical examination. In
one cat lipoprotein lipase activity measured after heparin activation was significantly
reduced compared to the response in a normal cat. The lipid and protein concentration in
each of the lipoprotein classes and the lipoprotein distribution of the two hyperlipaemic
cats, two normolipaemic relations and 16 normolipaemic adult cats were determined.
Plasma cholesterol and triglyceride levels were elevated in the hyperlipaemic cats with
the major proportion of triglyceride and cholesterol being present in chylomicrons
whereas in normolipaemic cats the majority of triglyceride was contained in very low
density lipoprotein. High density lipoprotein was the predominant lipid carrier in both the
normolipaemic and the hyperlipaemic cats but the protein content in chylomicrons was
elevated in the two affected cats. The lipoprotein distribution in normal cats in this study
agrees with previously reported values. The hyperlipaemic cats showed many of the
features of familial lipoprotein lipase deficiency (type I hyperlipoproteinaemia, exogenous
chylomicronaemia) which is an inherited disease in man.
Jones BR, Johnstone AC, Cahill JI, Hancock WS. 1986 Peripheral neuropathy in cats with
inherited primary hyperchylomicronaemia.Vet Rec. 1986 Sep 13;119(11):268-72.
Primary hyperlipoproteinaemia (hyperchylomicronaemia) with a slight increase in very
low density lipoprotein) is described in 20 cats. Fasting hyperlipaemia, lipaemia retinalis
and peripheral neuropathies were the most frequently detected clinical signs. The disease
is thought to be inherited as an autosomal recessive trait but the exact mode of
inheritance has not been determined. Affected cats showed reduced lipoprotein lipase
activity measured after heparin activation compared with the response in normal cats.
Plasma triglyceride and cholesterol were increased in all the cats with the major
proportion of triglyceride and cholesterol being present in chylomicrons. The peripheral
nerve lesions were caused by compression of nerves by lipid granulomata. It is probable
that the lipid granulomata result from trauma because the nerves most often affected
were at sites like the spinal foraminae where they were susceptible to trauma.
Thompson JC, Johnstone AC, Jones BR, Hancock WS. 1989 The ultrastructural pathology
of five lipoprotein lipase-deficient cats.J Comp Pathol. 101(3):251-62.
The ultrastructural pathology of cats suffering from familial lipoprotein lipase deficiency is
described. There were large numbers of lipid vacuoles within hepatocytes, epithelial cells
of the proximal convoluted tubule of kidney and macrophages of the liver, spleen and
lymph node. The older cats tended to have larger quantities of ceroid within hepatocytes
and macrophages, and all stages of development of ceroid were observed. Chylomicron
emboli were seen within the glomerular capillaries and interlobular blood vessels. There
was podocyte foot fusion and thickening of basement membranes of glomeruli, Bowman's
capsule and some proximal convoluted tubules, similar to that seen in diabetes mellitus.
These changes represent a non-specific reaction of the kidney to noxious insults such as
hypoxia caused by emboli. Transformation of smooth muscle cells from a contractile to a
synthetic state was seen in the splenic trabeculae and, to a lesser extent, in blood
vessels. Dilatations of the nuclear membrane of the lymphocytes were noted, the
significance of which is unknown.
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Lysosomal storage disease
See also alpha-mannosidosis and the mucopolysaccharidoses.
Hegreberg GA, Norby DE, Hamilton MJ. 1974. Lysosomal enzyme changes in an inherited
dwarfism of cats. Fed Proc. 33 598.
M
Mannosidosis
Manx
Mucolipidosis type II
Mucopolysaccharidosis
Mucopolysaccharidosis I.
Mucopolysaccharidosis VI
Mucopolysaccharidosis VII
Muscular dystrophy
Myocardial disease
Myopathy
Mannosidosis
Vacuolation of lymphocytes and monocytes.
Manx
Robinson R. 1993 Expressivity of the Manx gene in cats. J Hered. 1993 MayJun;84(3):170-2.
New genetic data are presented which indicate that the assortment data for the mutant
Manx gene, M, does not depart from normal expectation and does not enjoy a selective
advantage at some stage of gametogenesis, as has been hypothesized. The variable
expression of Manx taillessness is a remarkable and consistent feature of the Manx
syndrome, encompassing the posterior skeleton, neural organization, and growth of soft
tissues. The expression is partly genetic in origin, and the heritability is estimated to be
in the region of h2 = 0.40 +/- 0.11.
Mucolipidosis type II
Domestic
Clinical signs: clinical features in affected kittens were observed from birth in some
kittens, others are months old when presented. Clinical signs include failure to thrive,
abnormal facial features, retarded growth, behavioral dullness, facial dysmorphia, diffuse
retinal degeneration leading to blindness by 4 months of age, ataxia, progressive
hindlimb paresis, upper respiratory signs, cardiac failure. Radiographic lesions included
metaphyseal flaring, radial bowing, joint laxity, and vertebral fusion.
Mode of inheritance: autosomal recessive
References
Hubler M, Haskins ME, Arnold S, Kaser-Hotz B, Bosshard NU, Briner J, Spycher MA,
Gitzelmann R, Sommerlade HJ, von Figura K. 1996 Mucolipidosis type II in a domestic
shorthair cat. J Small Anim Pract. 1996 Sep;37(9):435-41.
A seven-month-old, female domestic shorthair cat was presented to the Veterinary
Teaching Hospital, University of Zurich, with abnormal facial features, retarded growth
and progressive hindlimb paresis. On physical examination the cat had a flat, broad face
with hypertelorism, frontal bossing, small ears and thickened upper and lower eyelids.
The corneas of both eyes were clear and the pupils were dilated. The skin was generally
thickened, most prominently on the dorsal aspect of the neck. Radiography of the entire
skeleton revealed a severely deformed spinal column, bilateral hip luxation with hip
dysplasia, an abnormally shaped skull and generalised decreased bone opacity. The
clinical features and radiographic changes were suggestive of mucopolysaccharidosis. The
toluidine blue spot test on a urine sample, however, was negative for
glycosaminoglycans. Further biochemical investigations revealed a deficiency of the
enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase, EC
2.7.8.17) in peripheral leukocytes and an elevation of many lysosomal enzymes in the
serum of the cat which is diagnostic for mucolipidosis type II. Histology and electron
microscopy of different tissues are briefly summarised. The findings of this cat, the first
reported case of mucolipidosis type II are compared with other similar storage diseases
described in the cat.
Mazrier H, Van Hoeven M, Wang P, Knox VW, Aguirre GD, Holt E, Wiemelt SP, Sleeper
MM, Hubler M, Haskins ME, Giger U. 2003 Inheritance, biochemical abnormalities, and
clinical features of feline mucolipidosis II: the first animal model of human I-cell disease.
J Hered. 94(5):363-73.
Mucolipidosis II (ML II), also called I-cell disease, is a unique lysosomal storage disease
caused by deficient activity of the enzyme N-acetylglucosamine-1-phosphotransferase,
which leads to a failure to internalize enzymes into lysosomes. We report on a colony of
domestic shorthair cats with ML II that was established from a half-sibling male of an
affected cat. Ten male and 9 female kittens out of 89 kittens in 26 litters born to clinically
normal parents were affected; this is consistent with an autosomal recessive mode of
inheritance. The activities of three lysosomal enzymes from affected kittens, compared to
normal adult control cats, were high in serum (11-73 times normal) but low in cultured
fibroblasts (9-56% of normal range) that contained inclusion bodies (I-cells), reflecting
the unique enzyme defect in ML II. Serum lysosomal enzyme activities of adult obligate
carriers were intermediate between normal and affected values. Clinical features in
affected kittens were observed from birth and included failure to thrive, behavioral
dullness, facial dysmorphia, and ataxia. Radiographic lesions included metaphyseal
flaring, radial bowing, joint laxity, and vertebral fusion. In contrast to human ML II,
diffuse retinal degeneration leading to blindness by 4 months of age was seen in affected
kittens. All clinical signs were progressive and euthanasia or death invariably occurred
within the first few days to 7 months of life, often due to upper respiratory disease or
cardiac failure. The clinical and radiographic features, lysosomal enzyme activities, and
mode of inheritance are homologous with ML II in humans. Feline ML II is currently the
only animal model in which to study the pathogenesis of and therapeutic interventions
for this unique storage disease.
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Mucopolysaccharidosis
Siamese
The mucopolysaccharidoses (MPS) are inherited metabolic disorders resulting from the
defective catabolism of glycosaminoglycans.
Cowell KR, Jezyk PF, Haskins ME, Patterson DF. 1976 Mucopolysaccharidosis in a cat. J
Am Vet Med Assoc. 169(3):334-9.
A young adult female Siamese cat born of a mother-son mating was referred because of
dwarfism, facial abnormalities, severe skeletal deformities, multifocal neurologic deficits,
and retinal atrophy. Cats of similar appearance had been observed in a previous litter of
the same parents. Metachromatic inclusion bodies were demonstrated in circulating
leukocytes. The urine contained a high concentration of mucopolysaccharide, as detected
by the toluidine blue spot test. The uronic acid content of the cetylpyridinium chlorideprecipitable mucopolysaccharide in the urine was 17 times greater than that in the urine
from a control cat of the same age and breed.
Mucopolysaccharidosis I.
Clinical signs: corneal clouding
Reference
Kakkis ED, Schuchman E, He X, Wan Q, Kania S, Wiemelt S, Hasson CW, O'Malley T,
Weil MA, Aguirre GA, Brown DE, Haskins ME. 2001 Enzyme replacement therapy in feline
mucopolysaccharidosis I. Mol Genet Metab. 72(3):199-208.
ekakkis@biomarinpharm.com
Enzyme replacement therapy (ERT) has long been considered an approach to treating
lysosomal storage disorders caused by deficiency of lysosomal enzymes. ERT is currently
used to treat Gaucher disease and is being developed for several lysosomal storage
disorders now that recombinant sources of the enzymes have become available. We have
continued development of ERT for mucopolysaccharidosis I (MPS I) using the feline
model. Recombinant alpha-L-iduronidase was administered intravenously at low dose
(approximately 0.1 mg/kg or 25,000 units/kg) to four cats and high dose (0.5 mg/kg or
125,000 units/kg) to two cats on a weekly basis for 3- or 6-month terms. Clinical
examinations showed distinct clearing of corneal clouding in one cat although clinical
effects in the others were not evident. Biochemical studies of the cats showed that the
enzyme was distributed to a variety of tissues although the liver and spleen contained
the highest enzyme activities. Glycosaminoglycan storage was decreased in liver and
spleen, and the histologic appearance improved in liver, spleen, and renal cortex.
Enzyme was not consistently detected in cerebral cortex, brainstem, or cerebellum and
the histologic appearance and ganglioside profiles did not improve. A variety of other
tissues showed low variable uptake of enzyme and no distinct improvement. IgG
antibodies to alpha-L-iduronidase were observed in five cats with higher titers noted
when higher doses were administered. Mild complement activation occurred in three cats.
Enzyme replacement therapy was effective in reversing storage in some tissues at the
biochemical and histologic level in MPS I cats but an improved tissue distribution and
prevention of a significant immune response could make the therapy more effective.
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Mucopolysaccharidosis VI
Siamese
Clinical signs: dwarfism, degenerative joint disease, skeletal deformities, facial
dysmorphia due to epiphyseal dysplasia,degenerative joint disease, corneal clouding, and
abnormal leukocyte inclusions.
References and abstracts.
Crawley AC, Muntz FH, Haskins ME, Jones BR, Hopwood JJ. 2003 Prevalence of
mucopolysaccharidosis type VI mutations in Siamese cats.J Vet Intern Med. 17(4):495-8.
allison.crawley@adelaide.edu.au
Mucopolysaccharidosis type VI (MPS VI), a lysosomal storage disease, is one of the more
prevalent inherited diseases in cats and is commonly found in cats with Siamese
ancestry. The prevalence of 2 known MPS VI mutations in cats was investigated in 101
clinically normal Siamese cats, in 2 cats with clinical signs of MPS VI, and in 202 cats
from 4 research colonies. The mutation L476P which causes a severe clinical phenotype,
was present on both alleles in the known MPS VI cats from Italy and North America and
was present in all research colonies that originated from North America. However, LA76P
was not detected in the Siamese population screened. In contrast, the mutation D520N,
which causes a mild clinical phenotype, was identified in 23 of 202 (11.4%) alleles tested
in Siamese cats from 3 continents, 2 of which were homozygous for D520N. Thus, the
D520N mutation was widespread, and it is likely that cats inheriting both mutations
(LA76P/D520N compound heterozygotes) would be in the general Siamese population,
particularly in North America. Practitioners should note the high incidence of
degenerative joint disease in these animals.
Crawley AC, Yogalingam G, Muller VJ, Hopwood JJ. 1998 Two mutations within a feline
mucopolysaccharidosis type VI colony cause three different clinical phenotypes. J Clin
Invest. 101(1):109-19
Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disease caused by a
deficiency of N-acetylgalactosamine-4-sulfatase (4S). A feline MPS VI model used to
demonstrate efficacy of enzyme replacement therapy is due to the homozygous presence
of an L476P mutation in 4-sulfatase. An additional mutation, D520N, inherited
independently from L476P and recently identified in the same family of cats, has resulted
in three clinical phenotypes. L476P homozygotes exhibit dwarfism and facial dysmorphia
due to epiphyseal dysplasia, abnormally low leukocyte 4S/betahexosaminidase ratios,
dermatan sulfaturia, lysosomal inclusions in most tissues including chondrocytes, corneal
clouding, degenerative joint disease, and abnormal leukocyte inclusions. Similarly,
D520N/D520N and L476P/D520N cats have abnormally low leukocyte
4S/betahexosaminidase ratios, mild dermatan sulfaturia, lysosomal inclusions in some
chondrocytes, and abnormal leukocyte inclusions. However, both have normal growth
and appearance. In addition, L476P/D520N cats have a high incidence of degenerative
joint disease. We conclude that L476P/D520N cats have a very mild MPS VI phenotype
not previously described in MPS VI humans. The study of L476P/D520N and D520N/
D520N genotypes will improve understanding of genotype to phenotype correlations and
the pathogenesis of skeletal dysplasia and joint disease in MPS VI, and will assist in
development of therapies to prevent lysosomal storage in chondrocytes.
Ho TT, Maguire AM, Aguirre GD, Surace EM, Anand V, Zeng Y, Salvetti A, Hopwood JJ,
Haskins ME, Bennett J. 2002 Phenotypic rescue after adeno-associated virus-mediated
delivery of 4-sulfatase to the retinal pigment epithelium of feline mucopolysaccharidosis
VI. J Gene Med. 4(6):613-21.
BACKGROUND: Mucopolysaccharidosis VI (MPS VI), due to recessively inherited 4sulfatase (4S) deficiency, results in lysosomal storage of dermatan sulfate in numerous
tissues. Retinal involvement is limited to the retinal pigment epithelium (RPE). This study
aimed to determine whether recombinant adeno-associated virus (AAV)-mediated
delivery of 4S would reverse the RPE pathology seen in MPS VI cats. METHODS: AAV.f4S,
containing the feline 4S cDNA, was delivered unilaterally to eyes of affected cats by
subretinal or intravitreal injection. Contralateral eyes received AAV with the green
fluorescent protein (GFP) reporter gene as control. At 2-11 months post-injection, the
cats were sacrificed and the treatment effects were evaluated histologically. RESULTS:
By ophthalmoscopy and histological analyses, GFP was evident as early as 4 weeks and
persisted through the latest time point (11 months). Untreated and AAV.GFP-treated
diseased retinas contained massively hypertrophied RPE cells secondary to accumulation
of dilated lysosomal inclusions containing dermatan sulfate. MPS VI eyes treated
subretinally with AAV.f4S had minimal RPE cell inclusions and, consequently, were not
hypertrophied. CONCLUSIONS: AAV-mediated subretinal delivery of f4S provided
correction of the disease phenotype in RPE cells of feline MPS VI, supporting the utility of
AAV as a vector for the treatment of RPE-specific as well as lysosomal storage diseases.
Macri B, Marino F, Mazzullo G, Trusso A, De Maria R, Amedeo S, Divari S, Castagnaro M.
2002 Mucopolysaccharidosis VI in a Siamese/short-haired European cat. J Vet Med A
Physiol Pathol Clin Med. Oct;49(8):438-42.
A 3-year-old Siamese/short-haired European cat was referred for clinical disease
characterized by dwarfism, facial dysmorphia, paralysis, small and curled ears, corneal
clouding and large areas of alopecia. X-ray examination showed multiple bone dysplasia.
On the basis of clinical features a form of mucopolysaccharidosis was suspected. The cat,
killed at the owner's request, presented several severe skeletal deformities such as long
caudal limbs, enlarged thorax with sunken breastbone, vertebral ankylosis in many spinal
segments and visceral involvement. Histologically, the cat showed diffuse vacuolization
and enlargement of cells in cartilage, bone and visceral organs. Ultrastructurally,
membrane-bound vacuoles were filled with fibrillar and fluffy-material or concentrically
whorled lamellae. Arylsulphatase B activity was 3.24 nm/mg/h in the affected cat and
30.6 in a normal age-matched control (NC). The L-iduronidase activity was slightly
increased. Quantitation of total glycosaminoglycans (GAGs) revealed a 4.5-fold increase
in the affected cat as compared with NC, while electrophoretic run of specific GAGs
[chondroitin sulphate (CA); hyaluronan (HA); heparan sulphate (HS); dermatan sulphate
(DS); keratan sulphate (KS)] performed on a cellulose acetate sheet, showed a striking
increase in the DS band. On densitometric analysis of the electrophoretic run stained with
Alcian Blue 8GX, the absorption of DS was eight-fold increased as compared with NC. The
clinical and morphological features, and the biochemical findings, were consistent with
the diagnosis of feline mucopolysaccharidosis VI.
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Mucopolysaccharidosis VII
Domestic
Fyfe JC, Kurzhals RL, Lassaline ME, Henthorn PS, Alur PR, Wang P, Wolfe JH, Giger U,
Haskins ME, Patterson DF, Sun H, Jain S, Yuhki N. 1999 Molecular basis of feline betaglucuronidase deficiency: an animal model of mucopolysaccharidosis VII.Genomics.
58(2):121-8.
fyfe@cvm.msu.edu
A family of domestic cats was found that exhibited clinical and biochemical abnormalities
consistent with mucopolysaccharidosis VII, an autosomal recessive lysosomal storage
disorder caused by beta-glucuronidase deficiency. beta-Glucuronidase activity was
undetectable in affected cat fibroblasts and restored by retroviral gene transfer of rat
beta-glucuronidase cDNA. beta-Glucuronidase mRNA was normal in affected cat testis by
Northern blot analysis. Normal feline beta-glucuronidase cDNA was cloned and
characterized, and amplified from affected cat fibroblasts by reverse transcription
coupled polymerase chain reaction. There was a G-to-A transition in the affected cat
cDNA that predicted an E351K substitution, destroyed a BssSI site, and eliminated GUSB
enzymatic activity in expression studies. Multiple species comparison and the crystal
structure of human beta-glucuronidase indicated that E351 is a highly conserved residue
most likely essential in maintenance of the enzyme's conformation. BssSI digestion of
polymerase chain reaction products amplified from genomic DNA indicated that affected
cats were homozygous and cats with half-normal beta-glucuronidase activity were
heterozygous for the missense mutation. Carriers identified in this manner produced
affected kittens in prospective breedings, and a feline MPS VII breeding colony has been
established.
Muscular dystrophy
Maine Coon
Laminin alpha2 deficiency-associated muscular dystrophy
Poncelet L, Resibois A, Engvall E, Shelton GD. 2003 Laminin alpha2 deficiencyassociated muscular dystrophy in a Maine coon cat. J Small Anim Pract. 44(12):550-2.
A European case of laminin alpha2 deficiency-associated muscular dystrophy in a 12month-old, female Maine coon pedigree cat is reported. The history and eventual clinical
presentation of this cat differed from those of two cats reported in the USA. In this case,
the myopathy was characterised by progressively worsening weakness, muscle atrophy
and joint contracture. Tendon reflexes were diminished, and motor nerve conduction
velocities were slowed. Muscle biopsy demonstrated a dystrophic phenotype with
endomysial fibrosis. Occasional thinly myelinated nerve fibres were present within a
peripheral nerve specimen. Poorly myelinated fibres were also found at the root level on
necropsy specimens. Immunohistochemical staining revealed the absence of laminin
alpha2. The cat's family history did not indicate genetic transmission of the disease.
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Myocardial disease
Feline myocardial disease (cardiomyopathy) includes hypertrophic cardiomyopathy
(HCM), restrictive cardiomyopathy (RCM) and dilated cardiomyopathy (DCM). It is the
most common cardiac disorder observed in cats (Ferasin, 2009).
Ferasin (2009) provides best review of feline myocardial disease this webmaster has ever
seen.
Clinical signs: heart murmur (60% cases), dyspnoea (50%), tachycardia (30%)
lethargy (20%) hypotension (15%), poor body condition (10%), ascites (10%),
arrythmia (10%), collapse (10%), abnormal respiratory sounds (10%), hindlimb paresis
(7.5%), bradycardia (5.5%), muffled heart sounds (5.0%) Ferasin (2009).
Breeds: British Shorthair, Maine Coons, Norwegian Forest Cats, Ragdolls
Mode of inheritance (HCM) : autosomal dominant mode in Maine Coon and maybe
also in British Shorthair and Ragdolls (Ferasin, 2009)
Reference
Ferasin L. 2009 Feline myocardial disease. 1: Classification, pathophysiology and clinical
presentation. J Feline Med Surg. 11(1):3-13.
Myopathy
Devon Rex, Maine Coon
N
Neutrophil granulation anomaly
Niemann-Pick disease - see sphingomyelinase deficiency
Neutrophil granulation anomaly
Birman
References
Hirsch VM, Cunningham TA. 1984 Hereditary anomaly of neutrophil granulation in
Birman cats. Am J Vet Res. 45(10):2170-4.
A hereditary anomaly of neutrophil granulation in purebred Birman cats was described
with respect to genetic, electron microscopic, histochemical, and functional characters.
The trait was inherited in an autosomal recessive manner and was prevalent in the
population studied. Affected cats had fine eosinophilic granules in the cytoplasm of
neutrophils. The granules had normal morphology as determined by electron microscopy
and did not stain for acid mucopolysaccharide. Bactericidal activity, phagocytosis, and
oxidative function of affected neutrophils were not different from those of unaffected
neutrophils. The anomaly was concluded to be an alteration in the content of lysosomal
granules with increased affinity for acidic dyes.
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O
Ocular abnormalities and disease
Osteochondromatosis
Osteodystrophy
Ocular abnormalities and disease
Burmese, Himalayan, Persian, Siamese
References
Glaze MB. 2005 Congenital and hereditary ocular abnormalities in cats.Clin Tech Small
Anim Pract. 20(2):74-82.
mglaze3937@aol.com
Congenital and inherited ocular diseases are reported less frequently in the cat than the
dog. The 2 species also differ in their array of disorders, with familiar canine
abnormalities like cataracts overshadowed by unique feline diseases such as eyelid
agenesis and corneal sequestration. Organized according to the primary ocular structure
affected and commingling congenital and inherited disorders in each section, the review
begins with multiple ocular anomalies and their impact on globe-orbit relationship.
Adnexal disorders include eyelid agenesis, entropion, dermoid, and nictitans gland
protrusion. Corneal abnormalities range from the routine sequestrum and PPM-related
opacity to those rare infiltrates accompanying inborn errors of metabolism. Brief
descriptions of uveal anomalies, primary glaucoma, cataracts, and lens luxations follow.
Retinal dysplasia and progressive retinal atrophy complete the summary. Suspicions of
heritability are often based on small numbers of animals in sporadic reports of ocular
disease, but the Persian, Burmese, and Siamese are among the breeds repeatedly linked
with one or more of these disorders.
Narfstrom K. 1999 Hereditary and congenital ocular disease in the cat.J Feline Med
Surg. 1 (3):135-41.
The aim of this review of hereditary and congenital ocular disease in cats is to present an
overview of the most common disorders seen in this species, the pathogenesis of the
problems and wherever possible, how they are treated. Several defects are common in
breeds such as the Persian, Himalayan and Burmese cats and affect the anterior segment
of the eye. Examples are agenesis of the eyelids, dermoids, entropion and corneal
sequestrum. Other problems such as cataracts, lens luxation and retinal dysplasia, cause
problems of the intraocular structures, but are less common in cats compared to dogs.
Finally, various parts of the retina and in some diseases other parts of the eye, are
specifically affected by hereditary diseases. Examples of these are lysosomal storage
disease, Chediak-Higashi syndrome and progressive rod cone degeneration and rod cone
dysplasia. Research of the latter two hereditary diseases, both described in the
Abyssinian breed of cat, have made affected individuals important animal models for
research into comparable diseases of humans.
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Osteochondromatosis
Levitin B, Aroch I, Aizenberg I, Foreman O, Shamir M. 2003 Linear osteochondromatosis
in a cat.Vet Radiol Ultrasound. 2003 Nov-Dec;44(6):660-4.
A domestic shorthair cat was presented with quadriparesis and lumbar hyperesthesia that
progressed over 4 months. There were linear and amorphous radiopaque masses
throughout the soft tissue surrounding the long bones, vertebral bodies, ribs, pelvis, and
scapula. The diagnosis of osteochondromatosis was confirmed by histopathology. Unlike
previously reported patients with osteochondromatosis, most of the calcified masses in
this cat were not connected to the periosteum; some were linear and were arranged
parallel to the long bones involved.
Osteodystrophy
Scottish Fold
Reference
Mathews KG, Koblik PD, Knoeckel MJ, Pool RR, Fyfe JC.1995 Resolution of lameness
associated with Scottish fold osteodystrophy following bilateral ostectomies and pantarsal
arthrodeses: a case report.J Am Anim Hosp Assoc. 31(4):280-8.
Bilateral hind-limb lameness, associated with tarsal exostoses in a Scottish fold
diagnosed as having Scottish fold osteodystrophy, resolved following staged bilateral
ostectomies and pantarsal arthrodeses. Degenerative changes in the phalangeal joints of
the hind limbs have progressed radiographically, but lameness has not recurred 48
weeks following the second arthrodesis. Additional skeletal abnormalities were detected
radiographically in both carpi and in several caudal vertebrae. A partial, left-sided
conduction deafness was diagnosed by evaluating brain stem auditory-evoked responses.
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P
Patent ductus arteriosis
Pelger-Huet anomaly
Polycystic kidney disease
Polyneuropathy
Porphyria
Progressive retinal atrophy (PRA)
Pyruvate kinase deficiency
Patent ductus arteriosis
Straw RC, Aronson EF, McCaw DL. 1985 Transposition of the great arteries in a cat. J
Am Vet Med Assoc. 187(6):634-6.
Transposition of the great arteries, a congenital cardiac disorder, was diagnosed in a 4month-old domestic short-haired kitten. Angiography revealed a patent ductus arteriosis,
with the pulmonary artery originating from the left ventricle and the aorta originating
from the right ventricle. Blood gas analysis suggested a high ventricular septal defect.
Necropsy confirmed the diagnosis.
Pelger-Huet anomaly
DSH,
Autosomal dominant inherited disorder. Homozygous form is lethal. Heterozygote cats
show granulocyte hypo-segmentation. Cells usually classified as immature or band
neutrophils, but appear to have normal function.
Polycystic kidney disease
Persian, Exotic shorthair
Polycystic kidney disease (PKD) is an inherited condition of cats and humans.
In Persians, the condition has been shown to be inherited as a single autosomal
dominant gene. It is estimated over 37% of Persians have PKD1, a breed that accounts
for nearly 80% of the cat fancy.
Diagnosis is by ultrasound. A DNA test is available from the Veterinary Genetics
Laboratory (VGL) at the University of California, Davis. All that is required is a swab of
the buccal mucosa, instructions and a submission form can be found on the VGL website.
The Feline Advisory Bureau runs a PKD negative cat register. For screening by
ultrasound, cats need to be at least 10 months old, whereas screening for the PKD1 gene
can be done as soon as a DNA sample can be obtained. Gene test submission forms can
be downloaded from the Feline Advisory Bureau website.
References
Greco DS. 2001 Congenital and inherited renal disease of small animals.Vet Clin North
Am Small Anim Pract. 31(2):393-9, viii.
dgreco@vth.colostate.edu
Congenital renal diseases are present at birth and may be determined genetically;
familial renal disorders occur in related animals with a higher frequency than would be
expected by chance, and frequently are inherited. The most common familial disorders in
cats and dogs include renal amyloidosis, renal dysplasia, polycystic kidneys, basement
membrane disorders, and tubular dysfunction (Fanconi's syndrome). This article alerts
the veterinarian to commonly observed congenital and hereditary conditions of the
kidneys in small animals.
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Polyneuropathy
see also sphingomyelinase deficiency
Porphyria
Siamese
Giddens WE Jr, Labbe RF, Swango LJ, Padgett GA. 1975 Feline congenital erythropoietic
porphyria associated with severe anemia and renal disease. Clinical, morphologic, and
biochemical studies.Am J Pathol. 80(3):367-86.
A feline erythropoietic porphyria was studied in an affected female Siamese cat and 2
male offspring. The principal elevated porphyrins were Type I isomers of uroporphyrin
and coproporphyrin; the porphyrin precursors, porphobilinogen and sigma-aminolevulinic
acid, were also detected. Porphyrins were present in the blood and in all the viscera,
teeth, bones, and excreta. There was severe macrocytic hypochromic anemia,
hepatomegaly, splenomegaly, and uremia associated with a renal disease characterized
by mesangial hypercellularity and proliferation (resulting in narrowing of glomerular
capillaries) and ischemic tubular injury. There was thickening of tubular basement
membranes and tubular epithelial lipidosis, degeneration, and necrosis. Electron
microscopic studies of bone marrow and kidney revealed the presence of membraneenclosed lamellar bodies 150 to 1000 nm in diameter in cytoplasmic and extracellular
locations.
Progressive retinal atrophy (PRA) - see also retinal dystrophy
Abysinnian, Persian
Clinical signs: bilateral, leads to blindness. In Abysinnian, usually present by 3-4 years
of age, earliest report only 7 months old. In Persians, pupillary light reflexes (PLR) were
reduced as early as 16 weeks of age and diminution of the extent and speed of the PLR
could be detected by the discerning as early as 2-3 weeks of age.
Mode of inheritance: autosomal recessive
References
Barnett KC, Curtis R. 1985 Autosomal dominant progressive retinal atrophy in
Abyssinian cats.J Hered. 76(3):168-70.
Hereditary progressive retinal atrophy in Abyssinian cats in England is recorded. It is
compared with another hereditary retinopathy in the same breed in Sweden and it is
concluded that these are two distinct conditions, one occurring at an early age in kittens
with an autosomal dominant mode of inheritance, the other occurring in young adult cats
due to an autosomal recessive gene. The two diseases are bilateral, progressive, and of
the generalized type, and are similar ophthalmoscopically.
Djajadiningrat-Laanen SC, Vaessen MM, Stades FC, Boeve MH, van de Sandt RR. 2002
Progressive retinal atrophy in Abyssinian and Somali cats in the Netherlands (1981-2001)
Tijdschr Diergeneeskd. 127(17):508-14.
From 1981 to 2001, 248 Abyssinian and 127 Somali cats in the Netherlands were
examined for hereditary eye disease. Distinct ophthalmoscopic signs consistent with
hereditary progressive retinal atrophy (PRA) were observed in 11 Abyssinian cats, and
subtle signs in 3 Abyssinian cats. A familial relationship was detected in 13 out of 14 of
these cats, which supports a hereditary basis to the condition. Distinct funduscopic signs
of retinal degeneration were observed at a median age of 4 years. One cat with advanced
retinal degeneration was only 7 months old, whereas the remaining 10 cats were
between 2 and 12 years old at the time of diagnosis. These differences in the age of
onset are suggestive of at least two types of PRA occurring in Abyssinian cats in the
Netherlands: a dysplastic, early-onset and a late-onset retinal degeneration. A largescale and systematic examination programme for hereditary eye disease will be
necessary to assess the incidence of PRA in the Dutch population of Abyssinian and
Somali cats as a whole, and to provide a basis for a preventive breeding programme.
Narfstrom K. 1983 Hereditary progressive retinal atrophy in the Abyssinian cat. J Hered.
74(4):273-6.
Progressive retinal atrophy (PRA), a hereditary eye disease leading to blindness, was
found in the Abyssinian breed of cat. Sixty-eight cases of a bilateral generalized
retinopathy, at different stages of the disease process, were seen in the breed during
ophthalmoscopic examinations of cats throughout Sweden during a 2-year period. Fortyfive percent of cats aged 2 years or older were affected in the examined group. The
earliest case was diagnosed in a 16-month-old cat. At the age of 3-4 years a bilateral
retinal atrophy was usually present in affected cats. Genetic analysis indicates that PRA
in the Abyssinian cat is caused by an autosomal recessive gene.
Narfstrom K. 1985 Progressive retinal atrophy in the Abyssinian cat. Clinical
characteristics.Invest Ophthalmol Vis Sci. 26(2):193-200.
Ninety-four cases of a hereditary retinal degeneration in household Abyssinian cats were
found in Sweden, mainly during a 3-year period. The disease was investigated by
ophthalmoscopy, fluorescein angiography, electroretinography, and light microscopy. A
bilateral retinopathy was usually first seen in affected cats at the age of 1.5-2 years.
Fluorescein angiography did not demonstrate abnormalities of etiological significance to
the disease process. A reduction mainly of a- and b-wave amplitudes in the ERG
indicated a generalized photoreceptor disease. Light microscopy showed that the
photoreceptor layer was primarily affected, while other retinal layers were mainly normal.
The midperipheral and peripheral retina was affected more severely than the retina of
the posterior pole until late stages of disease, when there was a generalized loss of
photoreceptors. The clinical and laboratory findings suggest that PRA in these Abyssinian
cats is a heritable photoreceptor degenerative disease with a fairly slow rate of
progression.
Rah H, Maggs DJ, Blankenship TN, Narfstrom K, Lyons LA. 2005 Early-onset, autosomal
recessive, progressive retinal atrophy in Persian cats. Invest Ophthalmol Vis Sci.
46(5):1742-7
PURPOSE: An early-onset retinal degenerative disease has been identified in Persian cats.
This study genetically, clinically, and histologically characterized the disease. A breeding
colony was established to assist with identification of the causative gene and to provide a
resource for vision research. METHODS: Cats were produced from testcross breedings.
Kittens underwent serial ophthalmic and neuro-ophthalmic examinations. Globes were
harvested from age-matched affected, obligate carrier, and control cats and were
evaluated by light microscopy. Fluorescein angiography assessed retinal and choroidal
vasculature. RESULTS: Test breedings confirmed an autosomal recessive mode of
inheritance. Rate and extent of disease progression were similar among individual
affected cats. The earliest clinical signs (reduced pupillary light reflexes) were seen at 2
to 3 weeks of age. Retinal degeneration was virtually complete by 16 weeks of age.
Histologic changes progressed rapidly and paralleled clinical findings. Histologic lesions
were limited to the photoreceptors, outer plexiform layer, and retinal pigment epithelium
in all but the terminal stages, when subtle changes were noted within the inner nuclear
layer. CONCLUSIONS: Characterized in this study was an autosomal recessive, earlyonset, retinal degenerative disease in Persian cats that is likely to be more prevalent in
this breed than previously suspected. This feline disease model may identify a new gene
or provide biological insight into some forms of early-onset retinitis pigmentosa (RP) in
humans and genetic retinal degenerations in other species. A breeding colony that will
assist in the identification of the causative gene has been established and is available for
studies in vision research.
Sarva R.1986 Progressive retinal atrophy in the Abyssinian cat. Nord Vet Med.
38(6):388-93.
Eight cases of hereditary progressive retinal atrophy in Abyssinian cats in Denmark are
reported. Pedigree studies indicate direct lineage to affected cats of the same breed in
Sweden. The disease is bilateral, progressive, and of the generalized type, and ultimately
leads to blindness.
Pyruvate kinase deficiency
Abyssinian, DSH, Somali
Clinical signs: intermittent haemolytic anaemia, jaundice, splenomegaly
Mode of inheritance: autosomal recessive
Link to testing laboratory: Josephine Deubler Genetic Testing Laboratory, Pennsylvania,
USA.
Link to submission form for genetic test from the Josephine Deubler Genetic Testing
Laboratory, Pennsylvania, USA.
References
Mansfield CS, Clark P. 2005 Pyruvate kinase deficiency in a Somali cat in Australia. Aust
Vet J. 83(8):483-5.
R
Renal calculi
Retinal atrophy - see Progressive retinal atrophy (PRA)
Retinal degeneration - see Mucolipidosis II
Retinal dystrophy
Rod cone degeneration/rod cone dysplasia
Renal calculi
Crossbred cats were significantly less likely to have renal calculi than were other breeds.
Birman, Tonkinese
Ling GV, Ruby AL, Johnson DL, Thurmond M, Franti CE. 1998 Renal calculi in dogs and
cats: prevalence, mineral type, breed, age, and gender interrelationships (1981-1993).J
Vet Intern Med. 1998 Jan-Feb;12(1):11-21.
gvling@ucdavis.edu
Three hundred seventeen specimens of urinary calculi of renal origin from 214 female
dogs and 103 male dogs, and 71 specimens of urinary calculi of renal origin from 38
female cats and 33 male cats were submitted for mineral analysis between July 1, 1981,
and December 31, 1993. Among dogs, 45 breeds were affected with renal calculi. Thirtythree breeds and a crossbred group were represented among females, but 8 breeds and
the crossbred group accounted for 81% of the total. Among male dogs, 30 breeds and a
crossbred group were represented, but 7 breeds and the crossbred group accounted for
69% of the total. Among cats, 10 breeds and a crossbred group were represented. Dogs
and cats with renal calculi were older than those of 2 comparison population groups.
More than one-half of the renal calculi in both dogs and cats were from the 1st known
episode of urolithiasis. The risk of formation of renal calculi was found to be higher for
cats than for dogs, when compared to other stone-forming cats and dogs (approximately
4.95 per 100 stone-forming cats and 2.88 per 100 stone-forming dogs). Among dogs,
breeds at highest risk of developing renal calculi were Miniature Schnauzers, Shih Tzus,
Lhasa Aposos, Yorkshire Terriers, and female Pugs. Also at high risk were male
Dalmatians and male Basset Hounds. Among small dogs, females generally were at
higher risk of developing renal calculi than were males. Regardless of size, terrier breed
males generally were at higher risk of developing renal calculi. Breeds of dogs at low risk
for development of renal calculi included crossbreds. German Shepherd Dogs, Labrador
Retrievers, Golden Retrievers, and female Dachshunds. When only 1 kidney was
involved, the risk of left renal calculus was greatest for both dogs and cats, but bilateral
renal involvement was relatively common in both species (19% and 9%, respectively).
Among dogs, specimens composed of 1 mineral substance (e.g., struvite) occurred more
often in males (58.3%) than in females (37.9%). Female dogs formed renal calculi
containing struvite or oxalate more often than did males; males formed calculi containing
urate more often than did females. Calculi containing oxalate, apatite, or some
combination of these minerals predominated among cats; only 1 specimen from 38
female cats and only 4 specimens from 33 male cats contained neither oxalate nor
apatite. Crossbred cats were significantly less likely to have renal calculi than were other
breeds. A single renal calculus specimen was identified in several uncommon breeds
including Tonkinese and Birman cats, and Affenpinscher, Clumber Spaniel, English
Shepherd, and Field Spaniel dogs. No significant differences were observed between male
and female dogs or between male and female cats with regard to mineral type of the
specimen and the presence of urinary tract infection.
Retinal dystrophy
Abysinnian
Clinical signs: marked dilatation of the pupils, impairment of the pupillary light reflex,
and nystagmus
Mode of inheritance: autosomal dominant
Curtis R, Barnett KC, Leon A. 1987 An early-onset retinal dystrophy with dominant
inheritance in the Abyssinian cat. Clinical and pathological findings.Invest Ophthalmol Vis
Sci. 28(1):131-9.
The clinical and pathological features of an early-onset autosomal dominant
photoreceptor degeneration in the Abyssinian cat are described. Ophthalmoscopic
evidence of retinal disease at 8-12 weeks of age was always preceded by marked
dilatation of the pupils, impairment of the pupillary light reflex, and nystagmus. The
electroretinogram was unrecordable in all but one of the affected individuals examined.
Abnormal photoreceptor development was observed by both light and electron
microscopy in retinas of a 22-day-old kitten; in this individual, no outer segment material
was detected, and inner segments showed impaired development which was more severe
towards the posterior pole. In a 40-day-old kitten, the inner segments were relatively
well-formed, whereas the outer segments, though present, showed marked
disorganization and degenerative change. The retinas of older individuals showed more
advanced photoreceptor degeneration, with thinning of the neural retina. This early-onset
retinopathy, which may be classified as a rod-cone dysplasia, is distinct from the
hereditary retinal dystrophy (progressive retinal atrophy) previously described in this
breed. The gene symbol Rdy has been adopted.
Gould DJ, Sargan DR. 2002 Autosomal dominant retinal dystrophy (Rdy) in Abyssinian
cats: exclusion of PDE6G and ROM1 and likely exclusion of Rhodopsin as candidate
genes.Anim Genet. 33(6):436-40.
d.j.gould@bris.ac.uk
Retinal dystrophy (Rdy) is an autosomal dominant photoreceptor dysplasia of Abyssinian
cats and a model for autosomal dominant retinitis pigmentosa (ADRP) in man. We have
pursued a candidate gene approach in the search for the causal mutation in Rdy. The
genes RHO (encoding rhodopsin), ROM1 (encoding the structural retinal outer-membrane
protein-1) and PDE6G (encoding the gamma subunit of the visual transduction protein
cyclic guanosine monophosphate-phosphodiesterase) were polymerase chain reactionamplified from normal feline genomic DNA. Leader, coding and 3' untranslated regions of
each gene, and parts of introns were sequenced. Single-stranded conformation
polymorphism (SSCP) analysis of Rdy-affected and normal cats was used to identify
intragenic polymorphisms within ROM1 and PDE6G. DNA sequencing of all three genes in
Rdy-affected cats was used to confirm results from SSCP. For both ROM1 and PDE6G
polymorphisms identified by SSCP and sequencing showed disconcordance between the
polymorphism and the disease phenotype within an Rdy disease pedigree. SSCP analysis
of RHO performed across the 5' untranslated region, the entire coding sequence and the
intron/exon boundaries in Rdy-affected and control cats failed to identify any intragenic
polymorphisms that could be used for linkage analysis. DNA sequencing of these regions
showed no differences between Rdy-affected and control cats. Mutations in ROM1 or in
PDE6G are not causative of feline Rdy. The absence of potentially pathogenic
polymorphisms in sequenced portions of the RHO gene makes it unlikely that a mutation
in this gene is the cause of Rdy.
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Progressive rod cone degeneration and rod cone dysplasia
Abysinnian
Clinical signs: the retina is, in most cases, ophthalmoscopically normal until the age of
1.5-2 years. The retinal changes that then appear are slowly progressive and lead to a
generalized retinal atrophy in another 2-4 years.
Reference
Narfstrom K, Nilsson SE. 1987 Hereditary rod-cone degeneration in a strain of
Abyssinian cats. Prog Clin Biol Res. 247:349-68.
The retinal disease found in this strain of Abyssinian cats is a heritable disorder, primarily
affecting the photoreceptors. The retina is, in most cases, ophthalmoscopically normal
until the age of 1.5-2 years. The retinal changes that then appear are slowly progressive
and lead to a generalized retinal atrophy in another 2-4 years. It is obvious that this cat
retinal degeneration shows many similarities to human Retinitis Pigmentosa. Just as in
RP the midperiphery/periphery is most severely affected at the earlier stages, and with
progression of disease alterations become generalized, the central retina being the best
preserved area until the very late stage. Rods are affected prior to cones, but later in the
disease there is an involvement of both rods and cones. Also, the disease process is slow,
starting off from an ophthalmoscopically normal appearing retina. This strain of
Abyssinian cats, affected by the presently described retinal disease, therefore has the
potential of becoming a new animal model in the study of hereditary visual cell disease
processes.
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S
Sacrocaudal dysgenesis
Sandhoff disease - see GM2 gangliosidosis
Sphingomyelinase deficiency
Staphyloma
Sacrocaudal dysgenesis
Manx
Clinical signs:
Mode of inheritance: autosomal dominant
Jones BR 2004 The nervous system. Feline Medicine and Therapeutics. Third Edition Eds
(Chandler EA. Gaskell CJ & Gaskell, RM) 125-171
Sphingomyelinase deficiency (Niemann-Pick disease)
Clinical signs: hepatosplenomegaly, progressive neuromuscular disease
Mode of inheritance: autosomal recessive
References
Brown DE, Thrall MA, Walkley SU, Wurzelmann S, Wenger DA, Allison RW, Just CA. 1996
Metabolic abnormalities in feline Niemann-Pick type C heterozygotes. Inherit Metab Dis.
19(3):319-30.
Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lysosomal
storage disorder in which cholesterol lipidosis results from defective intracellular
transport of unesterified cholesterol. The primary molecular defect of NPC is unknown;
regulatory mechanisms of cholesterol metabolism are impaired, resulting in retarded
esterification of exogenous cholesterol with accumulation of unesterified cholesterol in
lysosomes and secondary storage of glycolipids and sphingomyelin. In obligate
heterozygotes from a feline NPC model, cultured skin fibroblasts challenged with
exogenously derived cholesterol exhibited intermediate rates of cholesterol esterification
and accumulation of unesterified cholesterol. Liver lipid analyses of obligate heterozygote
cats demonstrated intermediate cholesterol and sphingomyelin concentrations.
Vacuolated skin fibroblasts were found in 2 of 3 heterozygote cats, and occasional
cortical neurons exhibited intracellular inclusions immunoreactive for GM2-ganglioside.
Ultrastructural studies provided evidence of storage in liver and brain. We believe these
morphological and biochemical findings are the first example of manifestations of CNS
abnormalities in a genetic carrier for a neuronal storage disease.
Cuddon PA, Higgins RJ, Duncan ID, Miller SP, Parent JM, Moser AB. Polyneuropathy in
feline Niemann-Pick disease.Brain. 1989 112 ( Pt 6):1429-43.
Two related cats, aged 5 months and 7 months, and 1 unrelated cat, aged 4 months,
presented with signs of a progressive neuromuscular disease. Detailed
electrophysiological studies suggested a primary demyelinating polyneuropathy, which
was confirmed by muscle and nerve biopsies and on necropsy examination. Light and
electron microscopic findings indicated a lysosomal storage disease, which was diagnosed
as sphingomyelinase deficiency (Niemann-Pick disease) by enzyme analysis and lipid
fractionation, although significant biochemical differences existed between the 2 related
cats and the third cat. Several lines of evidence suggest that these 2 related cats were
affected with a variant of type A Niemann-Pick disease, whereas cat 3 represented classic
Niemann-Pick disease type A.
Garver WS, Somers K, Krishnan K, Mitchell T, Heidenreich RA, Thrall MA. 2002 The
Niemann-Pick C1 protein in feline fibroblasts.Mol Genet Metab. 76(1):31-6.
wgarver@peds.arizona.edu
Niemann-Pick type C (NPC) disease is a rare inherited metabolic disorder characterized
by hepatosplenomegaly, progressive neurodegeneration, and storage of lipids such as
cholesterol and glycosphingolipids in most tissues. The current study was conducted to
characterize the Niemann-Pick C1 (NPC1) protein in feline fibroblasts. This was
accomplished by generating rabbit polyclonal antibodies against a peptide corresponding
to amino acids 1256-1275 of the feline NPC1 protein. The results obtained using
immunoblot analysis identified two major proteins that migrated at approximately 140
and 180 kDa. These two proteins were absent when immunoblots were incubated in the
presence of feline NPC1 antibody and immunizing peptide, or preimmune serum.
Fluorescence microscopy of feline fibroblasts incubated with the feline NPC1 antibody
revealed granular staining within the perinuclear region of the cell. This granular staining
was diminished when feline fibroblasts were incubated in the presence of feline NPC1
antibody and immunizing peptide, or was completely absent when feline fibroblasts were
incubated in the presence of preimmune serum. Additional studies using double-labeled
fluorescence microscopy indicated that feline NPC1 partially colocalized with markers for
late endosomes/lysosomes, endoplasmic reticulum, and microtubules, but not the transGolgi network. In summary, the results presented in this report demonstrate that the
NPC1 protein in feline fibroblasts has a similar distribution as that previously described
for human and murine fibroblasts.
Somers KL, Brown DE, Fulton R, Schultheiss PC, Hamar D, Smith MO, Allison R, Connally
HE, Just C, Mitchell TW, Wenger DA, Thrall MA. 2001 Effects of dietary cholesterol
restriction in a feline model of Niemann-Pick type C disease.J Inherit Metab Dis.
24(4):427-36.
A feline model of Niemann-Pick disease type C (NPC) was employed to evaluate the
effect of dietary cholesterol restriction on progression of disease. Two NPC-affected
treated cats were fed a cholesterol-restricted diet beginning at 8 weeks of age; the cats
remained on the diet for 150 and 270 days respectively. The study goal was to lower the
amount of low density lipoprotein (LDL) available to cells, hypothetically reducing
subsequent lysosomal accumulation of unesterified cholesterol and other lipids.
Neurological progression of disease was not altered and dietary cholesterol restriction did
not significantly decrease storage in NPC-affected treated cats. One NPC-affected treated
cat had decreased serum alkaline phosphatase activity (ALP) and decreased serum
cholesterol concentration. Liver lipid concentrations of unesterified cholesterol,
cholesterol ester and phospholipids in NPC-affected treated cats were similar to those
seen in NPC-affected untreated cats. Ganglioside concentrations in the NPC-affected
treated cats and NPC-affected untreated cats were similar. Histological findings in liver
sections from NPC-affected treated cats showed a diffuse uniform microvacuolar pattern
within hepatocytes and Kupffer cells, in contrast to a heterogeneous
macro/microvacuolar pattern and prominent nodular fibrosis in NPC-affected untreated
cats. Similar differences in vacuolar patterns were seen in splenic macrophages. Although
some hepatic parameters were modified, dietary cholesterol restriction did not appear to
alter disease progression in NPC-affected kittens.
Somers KL, Royals MA, Carstea ED, Rafi MA, Wenger DA, Thrall MA. 2003 Mutation
analysis of feline Niemann-Pick C1 disease.Mol Genet Metab. 79(2):99-103.
klsomers@colostate.edu
Niemann-Pick C (NPC) disease is an autosomal recessive neurovisceral lysosomal storage
disorder that results in defective intracellular transport of cholesterol. The major form of
human NPC (NPC1) has been mapped to chromosome 18, the NPC1 gene (NPC1) has
been sequenced and several mutations have been identified in NPC1 patients. A feline
model of NPC has been characterized and is phenotypically, morphologically, and
biochemically similar to human NPC1. Complementation studies using cultured fibroblasts
from NPC affected cats and NPC1 affected humans support that the gene responsible for
the NPC phenotype in this colony of cats is orthologous to human NPC1. Using humanbased PCR primers, initial fragments of the feline NPC cDNA were amplified and
sequenced. From these sequences, feline-specific PCR primers were generated and
designed to amplify six overlapping bands that span the entire feline NPC1 open reading
frame. A single base substitution (2864G-C) was identified in NPC1 affected cats.
Obligate carriers are heterozygous at the same allele and a PCR-based assay was
developed to identify the geneotype of all cats in the colony. The mutation results in an
amino acid change from cysteine to serine (C955S). Several of the mutations identified in
people occur in the same region. Marked similarity exists between the human and feline
NPC1 cDNA sequences, and is greater than that between the human and murine NPC1
sequences. The human cDNA sequence predicts a 1278aa protein with a lysosomal
targeting sequence, several trans-membrane domains and extensive homology with
other known mediators of cholesterol homeostasis.
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Staphyloma
Reference
Skorobohach BJ, Hendrix DV .Staphyloma in a cat .Vet Ophthalmol. 2003 Jun;6(2):937.
bskorobo@utk.edu
A unilateral scleral staphyloma in an 18-month-old, female spayed Domestic Short-haired
cat was treated with excision, primary closure and fascial graft. Other ocular
abnormalities noted on examination included iris coloboma, anterior cortical cataract,
focal lens equator flattening and retinal dysplasia. The staphyloma was presumed to be
congenital in origin.
Top of Page
T
Thromboembolism
Type IV glycogen storage disease
Thromboembolism
Abyssinian, Birman, Ragdoll
Smith SA, Tobias AH, Jacob KA, Fine DM, Grumbles PL. 2003 Arterial thromboembolism
in cats: acute crisis in 127 cases (1992-2001) and long-term management with low-dose
aspirin in 24 cases.J Vet Intern Med. 17(1):73-83.
Records of 127 cats with arterial thromboembolism (ATE) were reviewed. Abyssinian,
Birman, Ragdoll, and male cats were overrepresented. Tachypnea (91%), hypothermia
(66%), and absent limb motor function (66%) were common. Of 90 cats with diagnostics
performed, underlying diseases were hyperthyroidism (12), cardiomyopathy (dilated [8],
unclassified [33], hypertrophic obstructive [5], hypertrophic [19]), neoplasia (6), other
(4), and none (3). Common abnormalities were left atrial enlargement (93%), congestive
heart failure (CHF, 44%), and arrhythmias (44%). Of cats without CHF, 89% were
tachypneic. Common biochemical abnormalities were hyperglycemia, azotemia, and
abnormally high serum concentrations of muscle enzymes. Of 87 cats treated for acute
limb ATE, 39 (45%) survived to be discharged. Significant differences were found
between survivors and nonsurvivors for temperature (P < .00001), heart rate (P = .038),
serum phosphorus concentration (P = .024), motor function (P = .008), and number of
limbs affected (P = .001). No significant difference was found between survivors and
nonsurvivors when compared by age, respiratory rate, other biochemical analytes, or
concurrent CHE A logistic regression model based on rectal temperature predicted a 50%
probability of survival at 98.9 degrees F (37.2 degrees C). Median survival time (MST) for
discharged cats was 117 days. Eleven cats had ATE recurrences, and 5 cats developed
limb problems. Cats with CHF (MST: 77 days) had significantly shorter survival than cats
without CHF (MST: 223 days; P = .016). No significant difference was found in survival
or recurrence rate between cats receiving high-dose aspirin (> or = 40 mg/cat q72h) and
cats receiving low-dose aspirin (5 mg/cat q72h). Adverse effects were less frequent and
milder for the lower dosage.
Type IV glycogen storage disease - see glycogen storage diseases
U
Urinary tract - lower
Kruger JM, Osborne CA, Lulich JP, Oakley RE. 1996 Inherited and congenital diseases of
the feline lower urinary tract.Vet Clin North Am Small Anim Pract. 26(2):265-79.
Congenital urinary tract disorders of young cats may result from heritable (genetic) or
acquired disease processes that affect differentiation and growth of the developing
urinary tract, or from similar disease processes that eventually affect the structure or
function of the mature urinary system. Although congenital diseases of the feline lower
urinary tract are uncommon, clinical signs associated with these anomalies may be
indistinguishable from those of other acquired causes of lower urinary tract disease. Early
detection and proper management of congenital disorders may result in restoration of
urinary bladder and urethral function and/or progressive urinary tract dysfunction.
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V
Ventricular septal defect
Vitamin K-dependent multifactor coagulopathy - see coagulopathies
Ventricular septal defect - also see Patent ductus arteriosis
Domestic
Thomas WP. 2005 Echocardiographic diagnosis of congenital membranous ventricular
septal aneurysm in the dog and cat. J Am Anim Hosp Assoc. 41 (4): 215-20.
Membranous ventricular septal aneurysm was diagnosed by echocardiography in 17 dogs
and three cats. The aneurysm appeared as a thin membrane protruding into the right
ventricle from the margins of a congenital ventricular septal defect (VSD). The aneurysm
was intact in nine dogs and two cats and perforated by a small VSD in eight dogs and
one cat. Other congenital heart defects were present in seven dogs. In all animals, the
aneurysm was an incidental finding observed during echocardiographic examination, and
it did not appear to directly cause any cardiac dysfunction.
X
Xanthomata - see Lipoprotein lipase deficiency
Genetic and hereditary conditions of pedigree
(purebred) and domestic cats
This webpage contains a list of cat breeds and the genetic or hereditary conditions which
have been reported in that breed. A brief description of the diseases and references to
published papers can be found on the genetic and hereditary diseases of cats webpage.
Please note that these pages are intended for veterinary surgeons and that technical
terminology is used throughout, with no translation for the lay person.
ABCDEFGHIJKLMNOPQRSTUVWXYZ
A
Abysinnian
Familial amyloidosis
Feline infectious peritonitis - predisposition to development of
Gingivitis - hyperplastic, early onset
Progressive retinal atrophy (PRA)
Progressive rod cone degeneration and rod cone dysplasia
Retinal dystrophy
Thromboembolism
B
Bengal
Birman
British shorthair
Burmese
Bengal
Feline infectious peritonitis - predisposition to development of
Birman
Azotaemia
Distal axonopathy
Encephalomyelopathy
Feline infectious peritonitis - predisposition to development of
Neutrophil granulation anomaly
Renal calculi
Thromboembolism
British shorthair
Haemophilia B
Burmese
Diabetes
Feline leukocyte antigen DRB restricted polymorphism
Flat-chested kittens
Glaucoma - the Burmese cat may be predisposed to primary narrow-angle glaucoma
Hypokalaemic myopathy
D
Devon Rex
Domestic
Devon Rex.
Dystocia
Myopathy
Vitamin K-dependent multifactor coagulopathy
Domestic
Diabetes
Gingivitis-periodontitis feline juvenile-onset
Hageman (coagulation factor XII) deficiency
Mucolipidosis type II
Staphyloma
H
Himalayan
Feline infectious peritonitis - predisposition to development of
K
Korat
Gangliosidosis
Sandhoff disease (is GM2-gangliosidosis)
L
M
Maine Coon
Manx
Maine Coon
Gingivitis-periodontitis feline juvenile-onset
Laminin alpha2 deficiency-associated muscular dystrophy, myopathy
Manx
Sacrocaudal dysgenesis
N
Norwegian Forest Cats
Norwegian Forest Cat
Type IV glycogen storage disease
P
Persian
Chediak-Higashi syndrome
Chronic gastritis
Corneal sequestrum
Dystocia
Gastric adenocarcinoma
Gingivitis - hyperplastic, early onset
R
Ragdoll
Rex
Ragdoll
Feline infectious peritonitis - predisposition to development of
Thromboembolism
Rex
Feline infectious peritonitis - predisposition to development of
Devon Rex
Vitamin K-dependent multifactor coagulopathy
S
Scottish Fold
Siamese
Somali
Scottish Fold
Osteodystrophy
Siamese
Dystocia
Familial hyperlipaemia
Gingivitis-periodontitis feline juvenile-onset
Mucopolysaccharidosis
Mucopolysaccharidosis VI
Nystagmus
Porphyria
Somali
Progressive retinal atrophy (PRA)
T
Tonkinese
Renal calculi