Vet-reviewed guides on genetic health conditions, symptoms, care, and DNA testing options
Epilepsy is a genetic condition in Schipperke, Beagle, and Finnish Spitz dogs due to a mutation in the CFA37 gene. Dogs with the condition experience random, recurring seizures. Epilepsy can be 5 to 10 times more common in some dog breeds than it is in humans.
Von Willebrand disease III is a severe inherited blood-clotting disorder caused by mutations in the vWF gene. Different mutations are linked to different breeds, including the Dutch Kooiker, Scottish Terrier, and Shetland Sheepdog. The condition results in a complete or near-complete lack of von Willebrand factor, a...
Cystinuria is a kidney disease that occurs in Miniature Pinschers due to a mutation on the SLC7A9 gene. The condition causes significant levels of cystine to accumulate in the urine, which can lead to crystals and stones in the urinary tract. If left untreated, these formations can block the urethra.
Congenital deafness in dogs is a genetic condition that has a few different causes. In some dogs, it is associated with the piebald or merle genes. Dogs with this mutation experience degeneration of parts of the inner ear that are necessary for hearing due to the lack of coloration in their ears. In others, it results...
Fetal onset neuroaxonal dystrophy (FNAD) is a genetic neuromuscular disorder in Giant Schnauzers caused by a mutation in the MFN2 gene. This condition disrupts the function of motor nerve cells, leading to severe underdevelopment of muscles and organs in affected puppies. The disorder is autosomal recessive.
Factor VII deficiency is an inherited blood clotting disorder caused by a mutation in the F7 gene. Factor VII plays an important role in helping blood to clot. When levels are too low, the body cannot form clots properly. The condition follows an autosomal recessive pattern, meaning a puppy must inherit the mutation...
Myotonia congenita is an inherited muscle disorder most commonly seen in breeds such as the Australian Cattle Dog. It is caused by a mutation in the CLCN1 gene, which results in delayed muscle relaxation after contraction. While the condition can cause noticeable stiffness and mobility issues, it is non-painful and...
Neuronal ceroid lipofuscinosis type 5 (NCL-5) is a rare inherited disease that affects breeds such as Border Collies, Australian Cattle Dogs, and Golden Retrievers. It is caused by a mutation in the CLN5 gene, which is important for the normal function of lysosomal enzymes. When this gene does not work properly, waste...
Cerebellar cortical degeneration is a progressive inherited neurological disease seen in Vizslas. It is caused by a mutation in the SNX14 gene, which leads to the gradual death of nerve cells in the cerebellum, the part of the brain responsible for coordination and balance. As these cells are lost, affected dogs...
Elbow dysplasia in dogs is a genetic disorder that causes abnormal cells to grow in a dog’s elbow tissue, causing deformity. It is most prevalent in Rottweilers, Labrador Retrievers, German Shepherds, Golden Retrievers, and Chow Chows. While signs of elbow dysplasia may appear earlier, it is typically not diagnosed...
Intestinal cobalamin (vitamin B12) malabsorption is a genetic condition that occurs in Beagles due to a mutation in the CUBN gene. It’s also known as Imerslund-Gräsbeck syndrome. The condition prevents the small intestine from properly absorbing cobalamin, commonly known as vitamin B12.
Canine multifocal retinopathy 2 is an eye disease caused by a mutation in the Bestrophin 1 gene. It causes retinal detachment, typically appearing around 3 months of age and progressing slowly until 1 year old. This disease specifically affects Coton de Tulear dogs and is inherited in the autosomal recessive fashion,...
