Feline Genetic Disorders



GENERAL

Most of the 40 different domestic cat breeds originated within the past 200 years, largely due to selective breeding for aesthetic rather than functional traits. This human selection process (breeding together very closely related cats to develop particular characteristics) has played an important part in the evolution of genetic diseases in cats. In some cases, the breed itself has been based on an inherited disorder.

Inherited disorders are conditions that arise due to abnormal genes that are passed down from one generation to another. Genetically determined disorders can be obvious at birth, but some may not develop until later in life. Recent advances in genetic investigation and testing makes it possible to identify the gene defects associated with a number of inherited conditions.


SENSORY DISORDERS

  • Dermoids
  • 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
  • Pili torti
  • Hereditary epidermolysis bullosa
  • Cutaneous athenia
  • Vitiligo
  • Waardenburg syndrome
  • Chediak-Higashi symdrome

HORMONAL DISORDERS

  • Congenital hypothyroidism
  • Malignant hyperthermia

NEUROLOGICAL DISORDERS

  • Dysautonomia (acute onset regurgitation, constipation)
  • Hypoganglionsis (congenital constipation in kittens)
  • Distal polyneuropathy (degenerative polyneuropathy of Birman cats)
  • Hypernatremic Neuropathy (Episodic weakness)
  • Hyperoxaluria (congenital acute renal failure and secondary neurological signs)
  • Polymyositis (immune-mediated myopathy)
  • Myasthenia gravis (adult-onset immune-mediated myopathy)
  • Spongiform encephalopathy (congenital disease of Birman cats)

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
  • 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

MYOPATHIES

  • Episodic weakness of Burmese cats
  • Nemaline myopathy
  • Myasthenia gravis
  • Duchenne muscular dystrophy
  • Myotonia congenita
  • Primary hyperoxaluria
  • Devon rex hereditary myopathy
  • 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

DIAGNOSIS

There are veterinary diagnostic laboratories that offer genetic (DNA) tests for different animal diseases. Many laboratories offer DNA testing for cat coat colors and cat parentage, as well as tests for inherited disorders.

Where there is a relatively simple mode of inheritance, and where there is a DNA test widely available, controlling an inherited disease may be relatively straightforward. In other cases it may be more difficult.

GENETIC TRAITS BY BREED

A
Abyssinian
Corneal sequestrum
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
Pyruvate kinase deficiency
Retinal dystrophy
Thromboembolism

Australian Mist
Feline infectious peritonitis (susceptibility to effusive FIP)

B
Bengal
Feline infectious peritonitis – predisposition to development of

Birman
Azotemia
Distal axonopathy
Encephalomyelopathy
Feline infectious peritonitis – predisposition to development of
Neutrophil granulation anomaly
Renal calculi
Thromboembolism

British Shorthair
Feline infectious peritonitis (susceptibility to)
Hemophilia B

Burmese
Diabetes
Feline infectious peritonitis: one study said less at risk; another said more at risk of dry FIP.
Feline leukocyte antigen DRB restricted polymorphism
Flat-chested kittens
Glaucoma – the Burmese cat may be predisposed to primary narrow-angle glaucoma
Hypokalemic myopathy

C
Cornish Rex
Feline infectious peritonitis – predisposition to development of

D
Devon Rex
Dystocia
Myopathy
Vitamin K-dependent multifactor coagulopathy

Domestic Shorthair
Corneal sequestrum
Diabetes
Gingivitis-periodontitis feline juvenile-onset
Hageman (coagulation factor XII) deficiency
Mucolipidosis type II
Pyruvate kinase deficiency
Staphyloma
Ventricular septal defect

H
Himalayan
Corneal sequestrum
Feline infectious peritonitis – predisposition to development of

K
Korat
Gangliosidosis
Sandhoff disease (GM2-gangliosidosis)

M
Maine Coon
Gingivitis-periodontitis feline juvenile-onset
Hypertrophic cardiomyopathy
Laminin alpha2 deficiency-associated muscular dystrophy, myopathy

Manx
Sacrocaudal dysgenesis

N
Norwegian Forest Cat
Type IV glycogen storage disease

P
Persian
Chediak-Higashi syndrome
Corneal sequestrum
Dystocia
FIP – less susceptibility than some other breeds
Gingivitis – hyperplastic, early onset
Progressive retinal atrophy

R
Ragdoll
Feline infectious peritonitis – predisposition to development of
Thromboembolism

S
Scottish Fold
Osteodystrophy

Siamese
Dystocia
Familial hyperlipidemia
Gingivitis-periodontitis feline juvenile-onset
Mucopolysaccharidosis
Nystagmus
Porphyria

Somali
Progressive retinal atrophy (PRA)
Pyruvate kinase deficiency

T
Tonkinese
Renal calculi

This material is provided for educational purposes only and is not intended to diagnose or treat any disease or condition. All specific treatment decisions must be made by you and your local, attending veterinarian.

 

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