Deafness, CDH23-related Gene: CDH23 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…
Early Onset Adult Deafness (EOAD), EPS8L2-related Gene: EPS8L2 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…
Copper toxicosis, Wilson’s disease (COMMD1-related) Gene: COMMD1 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…
Nephritis, X-linked (Alport syndrome) Gene: COL4A5 Transmission: X-linked, recessive For an X-linked recessive genetic disease, a male must have one copy of the mutation in question to be at risk of developing the disease. All affected males transmit the mutation to all the females of their offspring. A female must have two copies of the…
Hypohidrotic ectodermal dysplasia, X-linked, EDA-related Gene: EDA Transmission: X-linked, recessive. For an X-linked recessive genetic disease, a male must have one copy of the mutation in question to be at risk of developing the disease. All affected males transmit the mutation to all the females of their offspring. A female must have two copies of the…
Pituitary-Dependent Hyperadrenocorticism (Cushing disease), CRHR1-related Gene: CRHR1 Transmission: Uncharacterized Mutation: Substitution, CRHR1 gene; c.289G>A, p.(Val97Met), exon4, chromosome 9. Breed: Numerous breeds Medical system: Endocrine Age of onset of symptoms: Older dogs Hyperadrenocorticism or Cushing disease is a common endocrine disorder seen in older dogs. This is most often caused by a benign (adenoma) or a malignant…
Osteochondromatosis, EXT2-related Gene: EXT2 Transmission: Autosomal, dominant The animal only has to have one copy of the mutation to be at risk of developing hypertrophic cardiomyopathy. Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of the disease than animals with just one copy of the mutation. Offspring…
Diffuse cystic renal dysplasia, hepatic fibrosis Gene: INPP5E 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…
Cerebellar cortical degeneration, SNX14-related Gene: SNX14 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…
Synovial osteochondromatosis, EXT1-related Gene: EXT1 Transmission: Autosomal, dominant The animal only has to have one copy of the mutation to be at risk of developing hypertrophic cardiomyopathy. Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of the disease than animals with just one copy of the mutation.…
