Sensory disorders
- – Dermoids (Epibular)
- – Coloboma
- – Heterochromia – odd-colored eyes
- – Congenital lens anomalies – cataracts
- – Strabismus – cross-eyed and squints
- – Staphyloma, exophthalmos, microphthalmos
Skin disorders
- – Long hair
- – Rex coat
- – 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
Neurological 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
- – Pelger-Huet Anomaly
- – Hypereosinophilic syndrome
- – Chediak-Higashi syndrome
- – 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
- – Patellar luxation
- – Radial agenesis
- – Osteogenesis imperfecta
- – Umbilical hernia
- – Polycystic kidney disease
- – Polydactyly
- – Scottish fold osteodystrophy
- – Tail deformities
Cutaneous asthenia in a Domestic Shorthair cat
Achondroplasia in a Munchkin cat
White coat and iridal heterochromia in a domestic shorthair cat with Waardenburg syndrome
Brachycephalic syndrome in Persian cats
Congenital hypotrichosis in a litter of Birman kittens. One of the kittens has a normal coat
Cleft palate in a Burmese cat
Hyperlipidemia in a young Burmese cat with lipid aqueous
Multiple cartilaginous exostoses associated with flat chest syndrome (kittens)
Domestic Shorthair kitten with congenital hydrocephalus. Note the obvious domed skull
Myopathies
Various myopathies reported, including;
- – episodic weakness of Burmese cats
- – nemaline myopathy
- – myasthenia gravis
- – Duchenne muscular dystrophy
- – myotonia congenita
- – primary hyperoxaluria
- – Devon rex hereditary myopathy
Enzyme-deficiency disorders
- Glycogen storage diseases
- – 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
- – Methemoglobin reductase deficiency – rare disease reported in domestic shorthair 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[2]:
| 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
- ↑ Robinson, R & Pedersen, NC (1990) Normal genetics, genetic disorders, developmental anomalies and breeding programs. In Pedersen, NC (Ed): Feline husbandry, AVP, California, pp:61-128
- ↑ August, JR (2010) Consultaitons in feline internal medicine. Vol 6. Elsevier Saunders, Philadelphia p:799