Horse Genetic Diseases

 

Appaloosa blindness, Leopard complex spotting, LP (TRPM1 gene)

Atlanto-Occipital Malformation (HOXD3 gene)

Auditory-pigmentary syndrome (PAX gene)

Cerebellar abiotrophy (MUTYH, TOE1 genes)

Dilute coat color with neurological defects, Lavender Foal Disease, LFS (MYO5A)

Dwarfism, chondrodysplasia (ACAN gene)

Familial neonatal hypoparathyroidism (RAPGEF gene)

Fragile foal syndrome, FFS (PLOD1 gene)

Glanzmann’s thrombasthenia (ITGA2B gene)

Glycogen branching enzyme deficiency, GBED (GBE1 gene)

Hereditary equine regional dermal asthenia, HERDA (PPIB gene)

Hoof wall separation syndrome (HWSS) (SERPINB11 gene)

Hydrocephalus, familial (B3GALNT2 gene)

Hyperkalemic periodic paralysis, HYPP (SNC4A gene)

Immune-mediated myositis, IMM (MYH1 gene)

Immunodeficiency syndrome (SLC5A3 gene)

Junctional epidermolysis bullosa, HJEB – American Saddlebred (LAMC3 gene)

Junctional epidermolysis bullosa, HJEB – Belgian (LAMC2 gene)

Malignant hyperthermia, Quarter Horse (RYR1 gene)

Multiple congenital ocular anomalies, MCOA (PMEL gene)

Myotonia congenita (CLCN1 gene)

Naked Foal Syndrome (ST14 gene)

Ocular Squamous Cell Carcinoma, SCC (DDB2 gene)

Overo Lethal White Foal Syndrome, OLWFS (EDNRB gene)

Polysaccharide Storage Myopathy 1, PSSM1 (GYS1 gene)

Severe combined immunodeficiency disease, SCID (PRKDC gene)

Skeletal Atavism (SHOX gene)