Genetic diseases of cats

From Cat
Hemifacial microsomia in an 18-month-old DSH cat. Note the vestigial right pinna and absent external ear canal. Photo courtesy of Dr Jessica Talbot
Polydactyly in 'Poly', a 12 week Ragdoll male kitten
White coat and iridal heterochromia in a domestic shorthair cat with Waardenburg syndrome
Congenital hypotrichosis in a litter of Birman kittens. One of the kittens has a normal coat
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

In feline genetics, the phenotype of the normal cat is the smooth-coated mackerel-striped tabby African wild cat, Felis libyca.

Felis libyca is a group of small cats that inhabit much of Asia and North Africa. The European wild cat, Felis silvestris is akin to the African wild cat and the domestic cat, Felis catus is likely to be a domesticate of Felis libyca[1].

The basis of feline genetics relies to DNA within the feline karyotype due to inherited mutations or mutations due to environmental or exposure changes.

Testing can be done at the University of Pennsylvania's School of Veterinary Medicine via their website or by emailing

Listed below are some of the more common genetic diseases in cats.

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
- Cranioschisis
- Craniosynostosis
- Cryptorchidism (retained testicle)
- Cutaneous asthenia
- Deafness
- Flat chest syndrome (kittens)
- Hair lip
- Hemifacial microsomia
- Hernias
- Hip dysplasia
- Hydrocephalus
- Hypotrichosis
- Megaoesophagus
- Patellar luxation
- Radial agenesis
- Osteogenesis imperfecta
- Umbilical hernia
- Polycystic kidney disease
- Polydactyly
- Scottish fold osteodystrophy
- Tail deformities


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

- 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

See also

Cat colour genetics


  1. 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
  2. August, JR (2010) Consultaitons in feline internal medicine. Vol 6. Elsevier Saunders, Philadelphia p:799