Hereditary Equine Regional Dermal Asthenia, HERDA (Ehlers-Danlos syndrome) Gene: PPIB 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. …
Hereditary junctional epidermolysis bullosa, HJEB – American Saddlebred Gene: LAMC3 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. …
Hyperkalemic Periodic Paralysis, HYPP Gene: SCN4A Transmission: Autosomal dominant, variable expression 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…
Overo lethal white foal syndrome, OLWFS (Megacolon, Hirschsprung disease) Gene: EDNRB 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…
Severe combined immunodeficiency disease, SCID Gene: PRKDC 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…
Glanzmann’s Thrombasthenia Gene: ITGA2B 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…
Glycogen branching enzyme deficiency, GBED Gene: GBE1 Transmission: Autosomal Mutation: Substitution, GBE1 gene; c.102 C>A, exon1 Medical system: Metabolic Breeds: and related breeds Age of onset of symptoms: About 8 weeks of age Glycogen Branching Enzyme Deficiency (GBED) is a genetic glycogen storage disease encountered in American Quarter Horse and related breeds. The disease is…
