Hypophosphatasia Gene: ALPL Transmission : Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only one…
Hypocatalasia Gene: CAT Transmission: Autosomal Mutation: Substitution, CAT gene; c.979 G>A , p.(A327T) Medical system: Metabolism Breeds: References: OMIA link: [1138-9615] Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLoS Genet. 19(2):e1010651. [pubmed/36848397] Nakamura K, Watanabe M, Takanaka…
Hereditary Vitamin D-Resistant Rickets Type II Gene: VDR Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals…
Hereditary Footpad Hyperkeratosis Gene: FAM83G Transmission: Autosomal recessive For an autosomal recessive genetic disease, an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only…
Elliptocytosis Gene: SPTB Transmission: Autosomal Mutation: Substitution, SPTB gene; c.6119 C>T, p.(T2020M) Medical system: Blood Breeds: References: OMIA link: [1318-9615] Di Terlizzi R, Gallagher PG, Mohandas N, et al. (2009) Canine elliptocytosis due to a mutant beta-spectrin. Vet Clin Pathol 38:52-8. [pubmed/19228356]
Ataxia, cerebellar Gene: KCNIP4 Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only one…
Glanzmann Thrombasthenia, Type I Gene: ITGA2B Transmission: Autosomal Mutations: Great Pyrenees mutation: Duplication (splicing erreur), ITGA2B gene; c.1360_1373 dup. Otterhound mutation: Substitution, ITGA2B gene; c.1192 G>C , p.(D398H) Mixed breed mutation: Substitution, ITGA2B gene; c.1357 C>T, p.(R453 STOP) Golden Retriever mutation: Deletion, ITGA2B gene; c.1924 del.C Medical system: Blood Breeds: References: OMIA link:…
Ehlers-Danlos Syndrome (Chihuahua) Gene: COL5A2 Transmission: Autosomal dominant For an autosomal dominant genetic disease, an animal must have at least one copy of the mutation in question to be at risk of developing the disease. Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of the disease…
Dilated Cardiomyopathy, DCM Gene: RBM20 Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only…
Polyneuropathy, demyelinating Gene: SBF2 Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only one…
