Dr. Bob's Pet Health Information

Feline Health / Genetics

Cat Breed Disease Predispositions, Inherited Disorders and Congenital Conditions

A feline breed-based reference using current veterinary genetic evidence, peer-reviewed breed-risk literature, and authoritative congenital-disease resources.

Author
Robert L. Linville, DVM
Reference date
August 2026

How to interpret this page

Breed Predispositions are disorders for which a breed association is supported by epidemiology, consensus guidance, or a well-recognized clinical literature. These are not necessarily single-gene diseases.

Known Genetic / Inherited Diseases includes disorders with established causal variants, well-supported inherited disease, or breed-focused genetic monitoring recommendations. A DNA variant found in a breed does not automatically prove high prevalence, complete penetrance, or clinical usefulness in every line.

Congenital / Developmental Conditions are present at birth or result from abnormal development. Congenital does not necessarily mean inherited. In cats, some defining breed traits—such as folded ears, disproportionate dwarfism, or taillessness—are themselves caused by variants that can affect health.

Evidence and source standard

Breed-condition associations are included when supported by feline-specific peer-reviewed literature, OMIA, veterinary genetics laboratories, veterinary manuals, breed-registry health policies, or other authoritative veterinary sources. Feline genetic-test results require breed- and variant-specific interpretation because the presence of a variant in a commercial panel does not by itself establish clinical relevance, prevalence, or penetrance in every breed or family line.

83TICA browse-directory breed/variety listings represented
62breed/variety entries with a documented health association
50disease or genetic-evidence glossary entries
12congenital/developmental reference entries

Breed and Variety Directory

The inventory follows the current TICA browse-all-breeds directory. Longhair, shorthair, tailed, straight-eared and other registry varieties are kept as separate entries when TICA lists them separately, because phenotype-linked risks can differ. Household-pet competition classes are not breeds and are not included here.

A B C D E H J K L M N O P R S T

A

American Bobtail

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Interpretive note: The Ragdoll MYBPC3 R820W variant has been detected in some American Bobtail lines; this does not establish a general HCM DNA-test recommendation for every American Bobtail.

Back to breed index

American Bobtail Shorthair

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Back to breed index

American Curl

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Back to breed index

American Curl Longhair

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Back to breed index

American Wirehair

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Back to breed index

Australian Mist

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Congenital/developmental cross-reference: ALX1-related craniofacial defect (Burmese head defect spectrum).

Back to breed index

B

Balinese

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Back to breed index

Bengal

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

Known Genetic / Inherited Diseases

Back to breed index

Bengal Longhair

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

Known Genetic / Inherited Diseases

Back to breed index

Bombay

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Congenital/developmental cross-reference: ALX1-related craniofacial defect (Burmese head defect spectrum).

Back to breed index

British Longhair

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Back to breed index

British Shorthair

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

Known Genetic / Inherited Diseases

Back to breed index

Burmese

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

Known Genetic / Inherited Diseases

Congenital/developmental cross-reference: ALX1-related craniofacial defect (Burmese head defect spectrum).

Back to breed index

Burmilla

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Congenital/developmental cross-reference: ALX1-related craniofacial defect (Burmese head defect spectrum).

Back to breed index

Burmilla Longhair

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Congenital/developmental cross-reference: ALX1-related craniofacial defect (Burmese head defect spectrum).

Back to breed index

C

Chartreux

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Back to breed index

Chausie

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Back to breed index

Cherubim

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Back to breed index

Cymric Tailed

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Interpretive note: A tailed phenotype should not be assumed to carry the Manx taillessness variant; individual genotype and lineage determine risk.

Back to breed index

D

E

Egyptian Mau

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Back to breed index

Exotic Shorthair

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

Known Genetic / Inherited Diseases

Back to breed index

H

Havana

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Back to breed index

Highlander

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Interpretive note: The Ragdoll MYBPC3 R820W variant has been detected in some Highlander lines; breed-wide clinical significance is not established.

Back to breed index

Highlander Shorthair

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Interpretive note: The Ragdoll MYBPC3 R820W variant has been detected in some Highlander lines; breed-wide clinical significance is not established.

Back to breed index

Himalayan

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

Known Genetic / Inherited Diseases

Congenital/developmental cross-reference: Congenital portosystemic vascular anomaly.

Back to breed index

J

Japanese Bobtail

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Back to breed index

Japanese Bobtail Longhair

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Back to breed index

K

Khaomanee

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Congenital/developmental cross-reference: Congenital sensorineural deafness associated with depigmentation.

Back to breed index

Kurilian Bobtail

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Back to breed index

Kurilian Bobtail Longhair

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Back to breed index

L

LaPerm

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Back to breed index

LaPerm Shorthair

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Back to breed index

Lykoi

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Back to breed index

M

Maine Coon

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

Known Genetic / Inherited Diseases

Congenital/developmental cross-reference: PAX3-related dominant blue eyes / auditory-pigmentary syndrome, Polydactyly.

Back to breed index

Maine Coon Polydactyl

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

Known Genetic / Inherited Diseases

Congenital/developmental cross-reference: PAX3-related dominant blue eyes / auditory-pigmentary syndrome, Polydactyly.

Back to breed index

Manx Tailed

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Interpretive note: A tailed phenotype should not be assumed to carry the Manx taillessness variant; individual genotype and lineage determine risk.

Back to breed index

Minuet

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Congenital/developmental cross-reference: Munchkin chondrodysplasia — UGDH-related.

Back to breed index

Minuet Longhair

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Congenital/developmental cross-reference: Munchkin chondrodysplasia — UGDH-related.

Back to breed index

Minuet Talls

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Interpretive note: Tall (non-dwarf) Minuets should not be assumed to carry the UGDH dwarfing variant; Persian-ancestry disorders remain a separate consideration.

Back to breed index

Minuet Talls Longhair

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Interpretive note: Tall (non-dwarf) Minuets should not be assumed to carry the UGDH dwarfing variant; Persian-ancestry disorders remain a separate consideration.

Back to breed index

N

Nebelung

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Back to breed index

O

Ocicat

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Back to breed index

Oriental Longhair

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

Known Genetic / Inherited Diseases

Back to breed index

Oriental Shorthair

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

Known Genetic / Inherited Diseases

Back to breed index

P

Persian

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

Known Genetic / Inherited Diseases

Congenital/developmental cross-reference: Congenital portosystemic vascular anomaly.

Back to breed index

Peterbald

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Back to breed index

Pixiebob

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Back to breed index

Pixiebob Longhair

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Back to breed index

R

Russian Blue

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Back to breed index

S

Savannah

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Back to breed index

Scottish Fold

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

Known Genetic / Inherited Diseases

Congenital/developmental cross-reference: Scottish Fold osteochondrodysplasia — TRPV4-related.

Back to breed index

Scottish Fold Longhair

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

Known Genetic / Inherited Diseases

Congenital/developmental cross-reference: Scottish Fold osteochondrodysplasia — TRPV4-related.

Back to breed index

Scottish Straight

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Interpretive note: Straight-eared cats that are N/N for the TRPV4 fold variant do not have Scottish Fold osteochondrodysplasia; ancestry-related disorders such as PKD1 remain a separate consideration.

Back to breed index

Scottish Straight Longhair

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Interpretive note: Straight-eared cats that are N/N for the TRPV4 fold variant do not have Scottish Fold osteochondrodysplasia; ancestry-related disorders such as PKD1 remain a separate consideration.

Back to breed index

Selkirk Rex

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Back to breed index

Selkirk Rex Longhair

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Back to breed index

Serengeti

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Back to breed index

Siamese

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

Known Genetic / Inherited Diseases

Congenital/developmental cross-reference: Cleft lip and/or palate.

Back to breed index

Singapura

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Congenital/developmental cross-reference: ALX1-related craniofacial defect (Burmese head defect spectrum).

Back to breed index

Snowshoe

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Back to breed index

T

Tennessee Rex

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Back to breed index

Thai

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Back to breed index

Toybob

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Back to breed index

Toyger

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Back to breed index

Turkish Angora

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

  • No established breed-specific inherited disorder was identified in the breed-focused authoritative sources used for this reference. Rare or private variants can still occur in any cat.

Congenital/developmental cross-reference: Congenital sensorineural deafness associated with depigmentation.

Back to breed index

Turkish Van

Registry directory: TICA current browse-all-breeds listing (2026)

Breed Predispositions

  • No high-confidence breed-specific non-Mendelian predisposition was identified in the core sources used for this page.

Known Genetic / Inherited Diseases

Back to breed index

Congenital Diseases and Developmental Disorders

Congenital abnormalities are present at birth or result from abnormal development, but they are not automatically inherited. Feline developmental disease may arise from a causal variant, complex inheritance, teratogenic exposure, maternal disease, infection, nutritional factors, or an unknown cause.

System groups: Neurologic / skeletal | Craniofacial / digestive | Sensory / pigmentation | Cardiovascular | Other developmental traits

Neurologic / skeletal

Manx syndrome / spinal dysraphism

Spectrum of sacrocaudal vertebral and spinal-cord abnormalities associated with the tailless Manx phenotype; severe cases may cause paresis and urinary/fecal incontinence.

Current inheritance/genetic evidence: The tailless phenotype is inherited as a dominant trait with embryonic lethality in homozygotes; clinical severity among surviving heterozygotes is variable.

Breed/phenotype associations represented on this page: Cymric, Manx

Disease glossary: Manx syndrome / spinal dysraphism

Reference source: UFAW — Manx syndrome.

Scottish Fold osteochondrodysplasia

Developmental cartilage and bone disorder responsible for the folded-ear phenotype and associated with limb/tail deformity and progressive osteoarthritis.

Current inheritance/genetic evidence: The TRPV4 fold variant is autosomal dominant. Folded-ear cats carry the disease-associated variant; homozygous cats tend to be more severely affected.

Breed/phenotype associations represented on this page: Scottish Fold, Scottish Fold Longhair

Disease glossary: Scottish Fold osteochondrodysplasia — TRPV4-related

Reference source: UC Davis VGL — Scottish Fold TRPV4 test and osteochondrodysplasia.

Munchkin chondrodysplasia

Disproportionate dwarfism with shortened limbs and characteristic long-bone changes.

Current inheritance/genetic evidence: A UGDH structural variant is associated with the short-legged Munchkin phenotype; inheritance is dominant with evidence consistent with homozygous lethality.

Breed/phenotype associations represented on this page: Minuet, Minuet Longhair, Munchkin, Munchkin Longhair

Disease glossary: Munchkin chondrodysplasia — UGDH-related

Reference source: OMIA — UGDH-related chondrodysplasia in Munchkin cats.

Congenital myasthenic syndrome

Inherited neuromuscular-junction disorder causing weakness, fatigability and characteristic abnormal gait or posture.

Current inheritance/genetic evidence: A COLQ-associated inherited syndrome is established in Devon Rex and Sphynx-related populations; current genetic guidance also lists Selkirk Rex for monitoring.

Breed/phenotype associations represented on this page: Devon Rex, Selkirk Rex, Selkirk Rex Longhair, Sphynx

Disease glossary: Congenital myasthenic syndrome — COLQ-related

Reference source: Governing Council of the Cat Fancy — Gene testing.

Cerebellar hypoplasia

Underdevelopment of the cerebellum causing lifelong nonprogressive ataxia, intention tremor and hypermetria.

Current inheritance/genetic evidence: Congenital but usually not a breed-specific inherited disease; prenatal viral injury, especially feline panleukopenia exposure, is an important cause.

Breed/phenotype associations represented on this page: No specific breed association is asserted here.

Disease glossary: Cerebellar hypoplasia

Reference source: Merck Veterinary Manual — Congenital and inherited disorders of the nervous system in cats.

Craniofacial / digestive

Cleft lip and/or palate

Failure of normal embryonic fusion of facial or palatal structures, producing an oral-nasal communication.

Current inheritance/genetic evidence: Congenital; may be genetic, environmental or multifactorial. Merck notes that cleft palate is uncommon in cats but occurs more often in Siamese.

Breed/phenotype associations represented on this page: Siamese

Disease glossary: Cleft lip and/or palate

Reference source: Merck Veterinary Manual — Congenital and inherited disorders of the digestive system in cats.

ALX1-related craniofacial defect

Severe craniofacial malformation described in Burmese-related populations; milder craniofacial effects may be present in heterozygous animals depending on the variant and genetic background.

Current inheritance/genetic evidence: A causal ALX1-associated defect is established in affected lines. Current feline-genetics guidance groups several Burmese/Asian-derived breeds for monitoring.

Breed/phenotype associations represented on this page: American Shorthair, Australian Mist, Bombay, Burmese, Burmilla, Burmilla Longhair, Singapura

Disease glossary: ALX1-related craniofacial defect (Burmese head defect spectrum)

Reference source: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Congenital portosystemic vascular anomaly

An abnormal vessel permits portal blood to bypass the liver, causing poor growth, gastrointestinal signs, urinary abnormalities and hepatic encephalopathy.

Current inheritance/genetic evidence: Congenital shunts occur in cats; Merck notes increased prevalence in Persian and Himalayan cats.

Breed/phenotype associations represented on this page: Himalayan, Persian

Disease glossary: Congenital portosystemic vascular anomaly

Reference source: Merck Veterinary Manual — Hepatic portal venous hypoperfusion / congenital portosystemic vascular anomalies.

Sensory / pigmentation

Congenital sensorineural deafness associated with depigmentation

Congenital unilateral or bilateral deafness associated particularly with dominant white/blue-eyed pigmentation phenotypes.

Current inheritance/genetic evidence: Pigmentation-associated deafness has a genetic/developmental basis, but risk depends on the specific white/blue-eye allele and genetic background.

Breed/phenotype associations represented on this page: Khaomanee, Turkish Angora

Disease glossary: Congenital sensorineural deafness associated with depigmentation

Reference source: Merck Veterinary Manual — Commonly reported congenital and inherited defects in cats.

PAX3-related dominant blue eyes / auditory-pigmentary syndrome

Lineage-associated pigmentation phenotype that can be accompanied by unilateral or bilateral sensorineural deafness.

Current inheritance/genetic evidence: Multiple PAX3 variants have been reported in domestic cats, including Maine Coon lines; risk depends on the specific variant and lineage.

Breed/phenotype associations represented on this page: Maine Coon, Maine Coon Polydactyl

Disease glossary: PAX3-related dominant blue eyes / auditory-pigmentary syndrome

Reference source: OMIA — PAX3-related auditory-pigmentary syndrome / dominant blue eyes in cats.

Cardiovascular

Congenital heart defects

Includes ventricular/atrial septal defects, atrioventricular valve dysplasia, patent ductus arteriosus, aortic stenosis, tetralogy of Fallot and other structural defects present at birth.

Current inheritance/genetic evidence: Congenital heart disease is uncommon in cats overall; inherited risk is established or suspected for some defects, but breed-specific causation is often not defined.

Breed/phenotype associations represented on this page: No specific breed association is asserted here.

Disease glossary: Congenital heart defects

Reference source: Merck Veterinary Manual — Congenital and inherited disorders of the cardiovascular system of cats.

Other developmental traits

Alphabetical Disease and Genetic-Evidence Glossary

Each entry provides a short clinical description, the evidence classification used on this page, a primary source, and links back to the breeds/varieties for which that condition is listed.

A B C D E F G H L M N P R S T

A

Acute intermittent porphyria — HMBS-related

Brief description: Inherited heme-biosynthesis disorder that can produce reddish-brown urine and variable neurologic or systemic signs.

Current genetic/evidence summary: HMBS-associated disease is documented in Siamese/Oriental-related cats.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: Oriental Longhair, Oriental Shorthair, Peterbald, Siamese

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Alpha-mannosidosis — MAN2B1-related

Brief description: Lysosomal storage disease causing neurologic and skeletal abnormalities.

Current genetic/evidence summary: A MAN2B1-associated inherited disease is documented in Persian-family cats.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: Exotic Shorthair, Himalayan, Persian, Scottish Fold, Scottish Fold Longhair, Selkirk Rex, Selkirk Rex Longhair

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ALX1-related craniofacial defect (Burmese head defect spectrum)

Brief description: Severe craniofacial malformation described in Burmese-related populations; milder craniofacial effects may be present in heterozygous animals depending on the variant and genetic background.

Current genetic/evidence summary: A causal ALX1-associated defect is established in affected lines. Current feline-genetics guidance groups several Burmese/Asian-derived breeds for monitoring.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: American Shorthair, Australian Mist, Bombay, Burmese, Burmilla, Burmilla Longhair, Singapura

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Autoimmune lymphoproliferative syndrome — FASLG-related

Brief description: Inherited immune dysregulation characterized by abnormal lymphocyte survival and lymphoproliferation.

Current genetic/evidence summary: A FASLG-associated breed disorder is documented in British Shorthair populations.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: British Longhair, British Shorthair

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B

Brachycephalic conformation-associated disease

Brief description: Shortened facial and skull conformation associated with respiratory obstruction, dental crowding/malocclusion, epiphora, ocular exposure, corneal disease and facial skin problems.

Current genetic/evidence summary: The risk increases with the severity of brachycephaly; this is a selected conformational trait rather than a single validated disease variant.

Primary reference for this entry: UFAW — Persian brachycephaly and associated health problems.

Relevant breeds/varieties on this page: Exotic Shorthair, Himalayan, Persian

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C

Cerebellar hypoplasia

Brief description: Underdevelopment of the cerebellum causing lifelong nonprogressive ataxia, intention tremor and hypermetria.

Current genetic/evidence summary: Congenital but usually not a breed-specific inherited disease; prenatal viral injury, especially feline panleukopenia exposure, is an important cause.

Primary reference for this entry: Merck Veterinary Manual — Congenital and inherited disorders of the nervous system in cats.

Relevant breeds/varieties on this page: No specific TICA breed association is asserted on this page.

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Chediak-Higashi syndrome — LYST-related

Brief description: Rare inherited disorder affecting lysosomal trafficking, pigmentation and hemostasis.

Current genetic/evidence summary: A LYST-associated form has been documented in Persian-family cats; modern genetic guidance suggests the historical variant may now be rare or eradicated in well-screened lines.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: Exotic Shorthair, Himalayan, Persian, Scottish Fold, Scottish Fold Longhair, Selkirk Rex, Selkirk Rex Longhair

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Cleft lip and/or palate

Brief description: Failure of normal embryonic fusion of facial or palatal structures, producing an oral-nasal communication.

Current genetic/evidence summary: Congenital; may be genetic, environmental or multifactorial. Merck notes that cleft palate is uncommon in cats but occurs more often in Siamese.

Primary reference for this entry: Merck Veterinary Manual — Congenital and inherited disorders of the digestive system in cats.

Relevant breeds/varieties on this page: Siamese

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Congenital heart defects

Brief description: Includes ventricular/atrial septal defects, atrioventricular valve dysplasia, patent ductus arteriosus, aortic stenosis, tetralogy of Fallot and other structural defects present at birth.

Current genetic/evidence summary: Congenital heart disease is uncommon in cats overall; inherited risk is established or suspected for some defects, but breed-specific causation is often not defined.

Primary reference for this entry: Merck Veterinary Manual — Congenital and inherited disorders of the cardiovascular system of cats.

Relevant breeds/varieties on this page: No specific TICA breed association is asserted on this page.

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Congenital myasthenic syndrome — COLQ-related

Brief description: Inherited neuromuscular-junction disorder causing weakness, fatigability and characteristic abnormal gait or posture.

Current genetic/evidence summary: A COLQ-associated inherited syndrome is established in Devon Rex and Sphynx-related populations; current genetic guidance also lists Selkirk Rex for monitoring.

Primary reference for this entry: Governing Council of the Cat Fancy — Gene testing.

Relevant breeds/varieties on this page: Devon Rex, Selkirk Rex, Selkirk Rex Longhair, Sphynx

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Congenital portosystemic vascular anomaly

Brief description: An abnormal vessel permits portal blood to bypass the liver, causing poor growth, gastrointestinal signs, urinary abnormalities and hepatic encephalopathy.

Current genetic/evidence summary: Congenital shunts occur in cats; Merck notes increased prevalence in Persian and Himalayan cats.

Primary reference for this entry: Merck Veterinary Manual — Hepatic portal venous hypoperfusion / congenital portosystemic vascular anomalies.

Relevant breeds/varieties on this page: Himalayan, Persian

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Congenital sensorineural deafness associated with depigmentation

Brief description: Congenital unilateral or bilateral deafness associated particularly with dominant white/blue-eyed pigmentation phenotypes.

Current genetic/evidence summary: Pigmentation-associated deafness has a genetic/developmental basis, but risk depends on the specific white/blue-eye allele and genetic background.

Primary reference for this entry: Merck Veterinary Manual — Commonly reported congenital and inherited defects in cats.

Relevant breeds/varieties on this page: Khaomanee, Turkish Angora

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Cystinuria — SLC7A9-related

Brief description: Inherited renal amino-acid transport defect that can predispose to cystine crystalluria and urolith formation.

Current genetic/evidence summary: Pathogenic SLC7A9 variants are documented in cats and are included in breed-monitoring guidance for several breeds.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: Devon Rex, Maine Coon, Maine Coon Polydactyl, Oriental Longhair, Oriental Shorthair, Peterbald, Selkirk Rex, Selkirk Rex Longhair, Siamese, Sphynx

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D

Diabetes mellitus — breed-associated risk

Brief description: Persistent hyperglycemia caused by inadequate insulin action and/or secretion.

Current genetic/evidence summary: Epidemiologic studies have reported increased risk in Burmese, Norwegian Forest and Tonkinese cats; obesity, age, sex and environment remain important modifiers.

Primary reference for this entry: O'Neill et al. Epidemiology of diabetes mellitus in cats attending primary-care practices in England.

Relevant breeds/varieties on this page: Burmese, Norwegian Forest, Tonkinese

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Dystrophin-associated muscular dystrophy

Brief description: X-linked muscular dystrophy causing progressive muscle weakness and muscle enlargement/degeneration.

Current genetic/evidence summary: DMD-associated disease is documented in Maine Coon populations and is included in current breed monitoring guidance.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: Maine Coon, Maine Coon Polydactyl

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E

Ehlers-Danlos / cutaneous asthenia — COL5A1-related

Brief description: Connective-tissue disorder that can produce abnormally fragile, hyperextensible skin and impaired wound integrity.

Current genetic/evidence summary: Pathogenic COL5A1 variants have been documented in cats, including breed-associated forms.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: Australian Mist, Bengal, Bengal Longhair, Bombay, Burmese, Burmilla, Burmilla Longhair, Singapura

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F

Factor XI deficiency — F11-related

Brief description: Inherited coagulation abnormality that may be clinically silent until surgery, trauma or another hemostatic challenge.

Current genetic/evidence summary: F11-associated deficiency is documented in Maine Coon cats; current feline-genetics guidance specifically advises attention before surgery.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: Maine Coon, Maine Coon Polydactyl

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Familial AA amyloidosis

Brief description: Systemic AA amyloid deposition. In Abyssinian/Somali cats renal disease is prominent; in Siamese/Oriental lines hepatic deposition and liver rupture are important clinical concerns.

Current genetic/evidence summary: Familial/breed-associated disease is well recognized, but the full causal architecture is not defined as a single universally predictive DNA test.

Primary reference for this entry: Single nucleotide polymorphisms associated with AA-amyloidosis in Siamese and Oriental Shorthair cats.

Relevant breeds/varieties on this page: Abyssinian, Oriental Longhair, Oriental Shorthair, Siamese, Somali

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G

Glycogen storage disease IV — GBE1-related

Brief description: Inherited glycogen branching-enzyme deficiency that can cause fetal loss, neonatal death or progressive neuromuscular disease.

Current genetic/evidence summary: Autosomal recessive GBE1-associated disease is established in Norwegian Forest Cats.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: Norwegian Forest

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GM1 gangliosidosis — GLB1-related

Brief description: Lysosomal storage disorder causing progressive neurologic disease.

Current genetic/evidence summary: Autosomal recessive GLB1-associated disease is established in Korat and Siamese/Oriental-related lines.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: Korat, Oriental Longhair, Oriental Shorthair, Peterbald, Siamese

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GM2 gangliosidosis — HEXB-related

Brief description: Lysosomal storage disease causing progressive neurologic dysfunction.

Current genetic/evidence summary: Autosomal recessive HEXB-associated disease is established in Burmese-related lines and Korats.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: Australian Mist, Bombay, Burmese, Burmilla, Burmilla Longhair, Korat, Singapura

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H

HPS5-related pigmentation disorder ('pink-eye' phenotype)

Brief description: Inherited pigmentation abnormality reported in Donskoy cats.

Current genetic/evidence summary: A breed-associated HPS5 variant is listed in current feline-genetics guidance; clinical implications should be interpreted from the specific variant and phenotype.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: Donskoy

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Hypertrophic cardiomyopathy (HCM)

Brief description: Primary myocardial disease characterized by left-ventricular hypertrophy not explained by another systemic cause. Cats may remain subclinical or develop heart failure, arterial thromboembolism, arrhythmia or sudden death.

Current genetic/evidence summary: Pedigree-breed risk is supported for several breeds. A negative breed-specific DNA test does not exclude HCM because HCM is genetically heterogeneous.

Primary reference for this entry: ACVIM consensus statement on classification, diagnosis and management of cardiomyopathies in cats.

Relevant breeds/varieties on this page: American Shorthair, Bengal, Bengal Longhair, Birman, British Shorthair, Chartreux, Cornish Rex, Himalayan, Maine Coon, Maine Coon Polydactyl, Norwegian Forest, Persian, Ragdoll, Scottish Fold, Scottish Fold Longhair, Siberian, Sphynx

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Hypokalemic polymyopathy — WNK4-related

Brief description: Inherited renal potassium-wasting disorder that can cause episodic or persistent muscle weakness, ventroflexion of the neck and gait abnormalities.

Current genetic/evidence summary: Autosomal recessive WNK4-associated disease is established in Burmese and closely related populations; active DNA screening has reduced frequency.

Primary reference for this entry: Governing Council of the Cat Fancy — Gene testing.

Relevant breeds/varieties on this page: Australian Mist, Bombay, Burmese, Burmilla, Burmilla Longhair, Singapura

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L

M

Manx syndrome / spinal dysraphism

Brief description: Spectrum of sacrocaudal vertebral and spinal-cord abnormalities associated with the tailless Manx phenotype; severe cases may cause paresis and urinary/fecal incontinence.

Current genetic/evidence summary: The tailless phenotype is inherited as a dominant trait with embryonic lethality in homozygotes; clinical severity among surviving heterozygotes is variable.

Primary reference for this entry: UFAW — Manx syndrome.

Relevant breeds/varieties on this page: Cymric, Manx

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Mucopolysaccharidosis VI — ARSB-related

Brief description: Inherited lysosomal storage disease causing skeletal, ocular and systemic abnormalities; severity depends on the causal variant.

Current genetic/evidence summary: ARSB variants are documented in Siamese/Oriental-related cats. Some variants are modifiers or milder alleles, so variant-level interpretation matters.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: Oriental Longhair, Oriental Shorthair, Peterbald, Siamese

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Munchkin chondrodysplasia — UGDH-related

Brief description: Disproportionate dwarfism with shortened limbs and characteristic long-bone changes.

Current genetic/evidence summary: A UGDH structural variant is associated with the short-legged Munchkin phenotype; inheritance is dominant with evidence consistent with homozygous lethality.

Primary reference for this entry: OMIA — UGDH-related chondrodysplasia in Munchkin cats.

Relevant breeds/varieties on this page: Minuet, Minuet Longhair, Munchkin, Munchkin Longhair

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Myotonia congenita — CLCN1-related

Brief description: Inherited skeletal-muscle channelopathy causing stiffness and delayed muscle relaxation.

Current genetic/evidence summary: A causal CLCN1 variant is included in current breed-focused feline genetic monitoring guidance for Burmese/Asian-derived populations.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: Australian Mist, Bombay, Burmese, Burmilla, Burmilla Longhair, Singapura

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N

P

PAX3-related dominant blue eyes / auditory-pigmentary syndrome

Brief description: Lineage-associated pigmentation phenotype that can be accompanied by unilateral or bilateral sensorineural deafness.

Current genetic/evidence summary: Multiple PAX3 variants have been reported in domestic cats, including Maine Coon lines; risk depends on the specific variant and lineage.

Primary reference for this entry: OMIA — PAX3-related auditory-pigmentary syndrome / dominant blue eyes in cats.

Relevant breeds/varieties on this page: Maine Coon, Maine Coon Polydactyl

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Persian-family progressive retinal degeneration — AIPL1-related

Brief description: Early-onset inherited retinal degeneration described in Persian-family cats.

Current genetic/evidence summary: An AIPL1-associated breed disorder is included in current feline genetic monitoring guidance for Persian and related breeds.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: Exotic Shorthair, Himalayan, Persian, Scottish Fold, Scottish Fold Longhair, Selkirk Rex, Selkirk Rex Longhair

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Polycystic kidney disease — PKD1-related

Brief description: Progressive bilateral renal cyst formation that can lead to chronic kidney disease.

Current genetic/evidence summary: Autosomal dominant PKD1 disease is established in Persian and Persian-derived populations. Testing has markedly reduced prevalence in screened breeding populations.

Primary reference for this entry: UC Davis VGL — Polycystic Kidney Disease (PKD1).

Relevant breeds/varieties on this page: American Shorthair, British Longhair, British Shorthair, Exotic Shorthair, Himalayan, Minuet, Minuet Longhair, Minuet Talls, Minuet Talls Longhair, Persian, Ragdoll, Scottish Fold, Scottish Fold Longhair, Scottish Straight, Scottish Straight Longhair, Selkirk Rex, Selkirk Rex Longhair

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Primary congenital/early-onset glaucoma — LTBP2-related

Brief description: Inherited abnormality of aqueous-humor drainage that can cause increased intraocular pressure, pain and vision loss.

Current genetic/evidence summary: LTBP2-associated glaucoma is documented in Siamese/Oriental-related populations.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: Oriental Longhair, Oriental Shorthair, Peterbald, Siamese

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Progressive retinal atrophy — rdAc (CEP290-related)

Brief description: Late-onset progressive retinal degeneration leading to blindness.

Current genetic/evidence summary: Autosomal recessive CEP290-associated disease originally characterized in Abyssinian/Somali lines; the variant has spread to multiple breeds, so breed-specific interpretation is important.

Primary reference for this entry: UC Davis VGL — Progressive Retinal Atrophy (PRA rdAc / CEP290).

Relevant breeds/varieties on this page: Abyssinian, American Curl, American Curl Longhair, American Wirehair, Balinese, Bengal, Bengal Longhair, Cornish Rex, Ocicat, Oriental Longhair, Oriental Shorthair, Peterbald, Savannah, Siamese, Somali, Tonkinese

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Progressive retinal atrophy — Rdy / CRX-related

Brief description: Early-onset inherited retinal degeneration reported in Abyssinian-family cats.

Current genetic/evidence summary: A causal CRX variant is documented; current feline-genetics reviews note that this variant may now be rare in well-screened populations.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: Abyssinian, Somali

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Pyruvate kinase deficiency — PKLR-related

Brief description: Inherited erythrocyte enzyme deficiency that can cause intermittent or chronic hemolytic anemia.

Current genetic/evidence summary: Autosomal recessive PKLR variants are established. The principal disease-associated variant has spread beyond the breeds in which it was first recognized.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: Abyssinian, Bengal, Bengal Longhair, Oriental Longhair, Oriental Shorthair, Peterbald, Siamese, Somali

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R

Ragdoll HCM — MYBPC3 R820W-associated risk

Brief description: Breed-associated hypertrophic cardiomyopathy risk variant in MYBPC3.

Current genetic/evidence summary: The R820W variant is associated with HCM risk in Ragdolls; homozygous cats are at particularly high risk. DNA status does not exclude other causes of HCM.

Primary reference for this entry: UC Davis VGL — Hypertrophic Cardiomyopathy in Ragdolls.

Relevant breeds/varieties on this page: American Bobtail, American Bobtail Shorthair, Highlander, Highlander Shorthair, Ragdoll

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S

Scottish Fold osteochondrodysplasia — TRPV4-related

Brief description: Developmental cartilage and bone disorder responsible for the folded-ear phenotype and associated with limb/tail deformity and progressive osteoarthritis.

Current genetic/evidence summary: The TRPV4 fold variant is autosomal dominant. Folded-ear cats carry the disease-associated variant; homozygous cats tend to be more severely affected.

Primary reference for this entry: UC Davis VGL — Scottish Fold TRPV4 test and osteochondrodysplasia.

Relevant breeds/varieties on this page: Scottish Fold, Scottish Fold Longhair

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Spinal muscular atrophy — LIX1/LNPEP-region associated

Brief description: Inherited motor-neuron disease causing weakness, muscle atrophy and gait abnormalities in young Maine Coon cats.

Current genetic/evidence summary: A breed-specific causal genomic deletion is established and DNA testing is available.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: Maine Coon, Maine Coon Polydactyl

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T

Thoracolumbar intervertebral disc disease

Brief description: Degenerative intervertebral disc disease causing spinal pain and/or neurologic dysfunction.

Current genetic/evidence summary: A referral-population study found Persian and British Shorthair cats significantly overrepresented; this is an epidemiologic association rather than a single-gene disorder.

Primary reference for this entry: Prevalence and breed predisposition for thoracolumbar intervertebral disc disease in cats.

Relevant breeds/varieties on this page: British Shorthair, Persian

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TPO-related inherited hypothyroidism

Brief description: Inherited thyroid hormone synthesis disorder that can cause poor growth, lethargy and developmental abnormalities.

Current genetic/evidence summary: A TPO-associated breed disorder is listed for Russian Blue cats in current feline genetic monitoring guidance.

Primary reference for this entry: Lyons LA. Genetic Testing: practical dos and don'ts for cats. J Feline Med Surg. 2024.

Relevant breeds/varieties on this page: Russian Blue

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Genetic-Evidence Key

Established causal variant / established inherited disorder
A specific pathogenic or disease-associated variant, or a well-established inherited disorder, has been documented in the relevant breed or breed group.
Breed-group monitoring
Current feline-genetics guidance recommends monitoring a related group of breeds, but the frequency and clinical importance of a specific variant may differ among populations.
Variant documented or detected — breed-level significance varies
The variant has been detected in the breed or testing is offered for that breed, but this alone does not prove high prevalence, complete penetrance, or a universal screening recommendation.
Epidemiologic / current breed association
Clinical or population data support increased risk, but the disease is complex, polygenic, conformational, environmental, or otherwise not explained by one validated causal variant.
Phenotype-linked disorder
The selected physical trait itself is produced by a variant that also alters normal development or health, as with Scottish Fold osteochondrodysplasia, Munchkin chondrodysplasia, or the Manx taillessness spectrum.
No disorder identified in the core sources
This means only that no high-confidence breed-specific disorder was found in the authoritative breed-focused sources used for this page. It does not mean the breed is free of genetic disease; rare/private variants and common feline diseases can occur in any cat.

References and Source Standard

Priority was given to peer-reviewed feline genetic and epidemiologic literature, OMIA, university veterinary genetics laboratories, current veterinary manuals, veterinary specialty consensus statements, and recognized cat registries. Casual breed-health lists and unsupported commercial claims were not used as primary evidence.

Clinical use

Breed is one component of risk assessment and does not diagnose disease. Genetic testing should be selected for the individual breed, family line and clinical question, and positive or negative DNA results should be interpreted with phenotype, examination findings, imaging, laboratory testing and pedigree information when appropriate.