Bleeding Disorder Gene: P2RY12 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…
Retinal atrophy, Bardet-Biedl syndrome 2 (BBS2) Gene: BBS2 Transmission: Autosomal recessive (most likely) 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…
Bald Thigh Syndrome Gene: IGFBP5 Transmission: not determined Mutation: Substitution, IGFBP5 gene Medical system: dermal Breeds: References: OMIA link: [2168-9615] 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] Brunner MAT, Rüfenacht S, Bauer A,…
Acute Respiratory Distress Syndrome, ARDS Gene: ANLN 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…
Hypersensitivity to Medications (MDR1) Gene: ABCB1 (MDR1) Transmission: Autosomal dominant, with variable penetration. Mutation: Deletion, ABCB1 gene; c.1930_1931, del.TC, exon 15, cat chromosome A2. Medical systems: neurological, pharmacological Breed: Balinese, Domestic Cat, Maine Coon, Ragdoll, Russian Blue, Siamese, Turkish Angora Age of onset of symptoms: induced by exposure to pharmacological agents. Sensitivity to medication, also…
Retinal atrophy, progressive (Bengal, PRA-b) Gene: KIF3B 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…
Episodic Hypokalemic Polymyopathy Gene: WNK4 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…
Myotonia congenita Gene: CLCN1 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 copy…
Primary Hyperoxaluria Type II Gene: GRHPR 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…
Lipoprotein Lipase Deficiency Gene: LPL (Lipoprotein lipase) 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…
