Genetic diseases of cats
From Felipedia
Listed below are some of the more common genetic diseases in cats. See also Cat colour genetics
Sensory disorders
- - Dermoids (Epibular)
- - Coloboma
- - Heterochromia - odd-colored eyes
- - Congenital lens anomalies - cataracts
- - Strabismus - cross-eyed and squints
- - Staphyloma, exophthalmos, microphthalmos
Skin disorders
- - Congenital hypotrichosis
- - Follicular dysplasia
- - Hair dysplasia
- - Pili torti
- - Hereditary epidermolysis bullosa
- - Cutaneous asthenia
- - Urticaria pigmentosa
- Genetic abnormalities in melanin pigmentation
- - Vitiligo
- - Waardenburg syndrome
- - Piebaldism
- - Oculocutaneous albinism
- - Chediak-Higashi syndrome
- - Lentigines
Hormonal disorders
- - Congenital hypothyroidism
- - Malignant hyperthermia - genetic susceptibility to certain drugs
- - Dwarfism - common in Munchkin breeds
Neuromuscular disorders
- - Dysautonomia - acute onset regurgitation, constipation, ophthalmological disorders
- - Hypoganglionosis - congenital constipation in kittens
- - Distal polyneuropathy - a degenerative polyneuropathy of Birman cats
- - Hypernatremic neuropathy - episodic weakness
- - Hyperoxaluria - congenital acute renal failure and secondary neurological signs
- - Myasthenia gravis - immune-mediated myopathy, adult-onset
- - Polymyositis - immune-mediated myopathy
- - Spongiform encephalopathy - congenital disease of Birman cats and associated with UV-treated dry cat food
Cardiovascular disorders
- - Hemophilia A, B
- - Neonatal isoerythrolysis
- - Maine coon cardiomyopathy
- - Ragdoll cardiomyopathy
- - Cardiac stenosis
- - Patent ductus arteriosus
- - Atrial septal defects
- - Tetralogy of Fallot
- - Tricuspid dysplasia
- - Mitral valve dysplasia
- - Chemodectoma
Physical disorders
- - Achondroplasia (Dwarfism)
- - Atresia ani
- - Brachycephalic syndrome
- - Burmese craniofacial defect
- - Cataract
- - Cleft palate
- - Cryptorchidism (retained testicle)
- - Cutaneous asthenia
- - Deafness
- - Flat chest syndrome (kittens)
- - Hair lip
- - Hernias
- - Hip dysplasia
- - Hydrocephalus
- - Hypotrichosis
- - Megaoesophagus
- - Radial agenesis
- - Osteogenesis imperfecta
- - Umbilical hernia
- - Polycystic kidney disease
- - Polydactyly
- - Tail deformities
Myopathies
- - episodic weakness of Burmese cats
- - nemaline myopathy
- - myasthenia gravis
- - Duchenne muscular dystrophy
- - myotonia congenita
- - primary hyperoxaluria
- - Devon rex hereditary myopathy
Enzyme-deficiency disorders
- - Amyloidosis - systemic amyloid accumulation in Abyssinian, Siamese and Oriental shorthair cats
- - Gangliosidosis - neuronal beta-galactosidase deficiency in Korat, Siamese and Domestic shorthair cats
- - Alpha-mannosidosis - systemic mannoside accumulation in lysosomes
- - Mucopolysaccharidosis (MPS I - VII) (Mucolipidosis) - systemic mucopolysaccharide accumulation
- - Globoid cell leukodystrophy (Galactosylceramide lipidosis) - neuronal galactocerebrosidase deficiency
- - Glucosyl transferase deficiency - systemic glycogen accumulation in Norwegian forest cats
- - Chediak-Higashi syndrome - systemic tyrosinase deficiency in Persian and Siamese cats
- Fat/lipid storage diseases
- - Hyperlipidemia - lipoprotein lipase deficiency
- - Ceroid Lipofuscinosis - neuronal lipid accumulation
- - Niemann-Pick disease - neuronal accumulation of cholesterol in Siamese, Oriental, Balinese
- Protein storage diseases
- - Laminin alpha-2 deficiency
- - Pyruvate kinase deficiency - systemic disease in Abyssinian and Somali cats
- - Nemaline myopathy - familial muscular dystrophy
- - Hypokalemic polymyopathy - in Maine coon, Burmese and Devon rex cats
- - Granulation anomaly in Birmans
Cat traits and diseases with known gene mutations
Listed below are a number of diseases with known genes resulting in mutations[1]:
| Disease/Coat color | Gene | Mutation | Breeds |
| Agouti | ASIP | del122-123 | All breeds |
| Amber | MC1R | G250A | |
| Brown | TYRP1 | b=C8G, b1=C298T | All breeds |
| Dilution | MLPH | T83del | All breeds |
| Color | TYR | Cb=G715T, C5=G940A, c=C975del | All breeds |
| AB blood type (type B) | CMAH | 18indel-53 | All breeds |
| Gangliosidosis 1 | GBL1 | G1457C | Korat, Siamese |
| Gangliosidosis 2 | HEXB | 15bp del (intron) | Burmese |
| Gangliosidosis 2 | HEXB | inv1467-1491 | Domestic shorthair |
| Gangliosidosis 2 | HEXB | C667T | Domestic shorthair (Japan) |
| Gangliosidosis 2 | HEXB | C39del | Korat |
| Gangliosidosis 2 | HEXB | del390-393 | Domestic shorthair |
| Glycogen storage disease IV | GBE1 | 230bp ins 5'-6kb del | Norwegian forest cat |
| Haemophilia B | F9 | G247A, C1014T | Domestic shorthair |
| Hypertrophic cardiomyopathy | MYBPC | G93C, C2460T | Maine coon, Ragdoll |
| Lipoprotein lipase deficiency | LPL | G1234A | Domestic shorthair |
| Long fur | FGF5 | c.356.insT, C406T, c.474delT, A475C | Most breeds |
| Mannosidosis, alpha | LAMAN | del1748-1751 | Persian |
| Mucolipidosis II | GNPTA | C2655T | Domestic shorthair |
| Mucopolysaccharidosis I | IDUA | del1047-1049 | Domestic shorthair |
| Mucopolysaccharidosis VI | ARSB | T1427C | Siamese |
| Mucopolysaccharidosis VI | ARSB | G1558A | Siamese |
| Mucopolysaccharidosis VII | GUSB | A1052G | Domestic shorthair |
| Muscular dystrophy | DMD | 900bpdel M promoter-exon 1 | Domestic shorthair |
| Niemann-Pick C | NPC | G2864C | Persian |
| Progressive retinal atrophy | PRA | IVS50 + 9T>G | Abyssinian |
| Polycystic kidney disease | PKD1 | C10063A | Persian |
| Polydactyly | SHH | A479G | Maine coon, Pixie bob |
| G257C, A481T | Domestic shorthair | ||
| Porphyria | HMBS | c.842_844delGAG | Siamese |
| c.189dupT | Siamese | ||
| Pyruvate kinase deficiency | PKLR | 13bp del in exon 6 | Abyssinian |
| Spinal muscular dystrophy | LIX1-LNPEP | 140kb del, exons 4-6 | Maine coon |
References
- ↑ August, JR (2010) Consultaitons in feline internal medicine. Vol 6. Elsevier Saunders, Philadelphia p:799
