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Genetic Diseases in Dogs | Stud Dog Central

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Genetic Diseases in Dogs
Responsible dog breeders should make themselves aware of the genetic diseases that can affect their particular breed. There is no excuse for breeding dogs with hip dysplasia or a variety of other preventable diseases.

Here at Stud Dog Central I would like to encourage all owners, of both the studs and the bitches that are serviced by them, to consider carefully the results of negligence on the part of the breeders. For instance, hip dysplasia is terribly crippling and can occur in 50 percent or more in some of the larger breeds of dogs!  It wouldn’t have to be like this if people who breed dogs would take the time, and the little extra money it takes, to have their dogs tested before breeding them! If the results come out less than "fair", simply don’t breed that dog. No amount of beauty or personality is worth subjecting resulting puppies to a life of severe pain and early death.

Talking with your vet can be a good place to begin. However, there is a wealth of information available to you through places like the OFA website, local breed clubs, genetic testing labs, and websites for numerous national breed clubs.

Here are links to statistics databases where you can search for information by disease, or by breed: Animal GeneticsOFA, OptiGenUC DavisVetGen. This information can guide you in knowing what things might be necessary to test for in your particular breed of dog. Please take the time to familiarize yourself with your dog’s possible genetic weaknesses, and get him or her tested for them before using them to produce puppies.
Hip Dysplasia
"Hip dysplasia is one of the most common skeletal diseases seen in dogs. Gender does not seem to be a factor, but some breeds are more likely to have the genetic predisposition for hip dysplasia than other breeds. Large and giant breeds are most commonly affected, including the Great Dane, Saint Bernard, Labrador Retriever, and German Shepherd. Rarely, small breed dogs can also be affected, but are less likely to show clinical signs." *
Luxating Patella
"A dislocated kneecap (patellar luxation) is usually caused by a genetic malformation or trauma. The clinical signs of the condition will normally start showing approximately four months after birth.

Typically, a dog with a dislocated kneecap will exhibit prolonged abnormal hindlimb movement, occasional skipping or hindlimb lameness, and sudden lameness."
Elbow Dysplasia
"Elbow dysplasia is a general term used to identify an inherited polygenic disease in the elbow of dogs."

"Elbow dysplasia is a common cause of front-leg lameness in large-breed dogs. Breeds predisposed to elbow dysplasia include the Golden Retriever, Labrador Retriever, English Setter, English Springer Spaniel, Rottweiler, German Shepherd, Bernese Mountain Dog, Chow Chow, Chinese Shar-Pei, Newfoundland, and others." *
Exercise-Induced Collapse (EIC)
"Exercise-Induced Collapse (EIC) is a genetic neuromuscular disorder characterized by muscle weakness, lack of coordination and life-threatening collapse after intense exercise in otherwise apparent healthy dogs...Affected dogs show signs of the disorder as early as 5 months of age, which is typically when more strenuous training and activity begins."
UC Davis Veterinary Medicine 
Congenital Deafness
Congenital deafness has been reported for approximately 80 breeds, with the list growing at a regular rate...; it can potentially appear in any breed but especially those with white pigmentation. Deafness may have been long-established in a breed but kept hidden from outsiders to protect reputations. The disorder is usually associated with pigmentation patterns, where the presence of white in the hair coat increases the likelihood of deafness. Two pigmentation genes in particular are often associated with deafness in dogs: the merle gene ...and the piebald gene... However, not all breeds with these genes have been reported to be affected. *
Cyclic Neutropenia
"Cyclic Neutropenia is a disease that affects the neutrophils of a dog, which are an integral part of the dog's immune system. Every 10-12 days, the dog will experience a dramatic drop in the number of neutrophils circulating through his blood stream, leaving him extremely susceptible to infections. The dog will often experience diarrhea, fever, joint pain, or other symptoms associated with eye, respiratory, or skin infections. Bleeding episodes can also occur. Unfortunately, most affected dogs will die as puppies, and even with the best care, the dog will not likely live past 2-3 years of age."
Animal Genetics
These are just a few of the genetic disorders in dogs that can be avoided by testing.
Centronuclear Myopathy (CNM)
 "Centronuclear Myopathy (CNM) is a grave disease that has been of concern in Labrador Retrievers globally since the 1970’s...By the 1990's, the incidence had increased significantly. This increase is globally due to famous successful Labradors who are carriers being used extensively for breeding.

CNM is a disease where the muscles of the Labrador do not develop properly. The mutation is present in two copies from birth in affected pups. Affected pups have missing tendon reflexes as well as less weight gain than others by four weeks of age...The more obvious symptoms of CNM appear when a pup is between twelve and twenty weeks of age. The pup will begin to stumble and fall when trying to walk. There are difficulties in swallowing since the muscles in the esophagus are affected. Food can then get into lungs causing pneumonia. The symptoms are typically worse in cold weather. The symptoms remain for the entire life of the dog."
CNM Online *
Ichthyosis-A (ICH-A)
Ichthyosis is an autosomal recessive genetic mutation that affects the skin of Golden Retrievers. The mutation prevents the outer layer of the epidermis from forming properly, resulting in skin that becomes darkened and thick and flakes excessively.

The name "Ichthyosis" is derived from the Greek word for fish, which describes the skin's resemblance to fish scales. "The most common symptom of ICH-A is excessive flaking of the skin. Other symptoms include areas of hardened skin and hyperpigmentation, which may make the skin appear dirty or blackened. Symptoms can be mild or severe. Evidence of the disease may be detected when the dog is still a puppy, but symptoms may take a year or more to develop. Additionally, symptoms can improve or worsen, depending on stress and hormonal cycles."
Animal Genetics
Merle / Cryptic Merle
​The Merle gene creates mottled patches of color in a solid or piebald coat, blue or odd-colored eyes, and can affect skin pigment as well. Animals that are “double Merle” a common term used for dogs that are homozygous for Merle (MM) are predominantly white and prone to several health issues. Chances of having puppies with health issues is more typical when two Merles are bred together, so it is recommended that a Merle dog only be bred to a non Merle, non cryptic Merle dog. Many solid dogs are actually crypticor phantom merles and can produce both Merle and double merles.
Animal Genetics
Retinal Atrophy (PRA)​
"PRA refers to a group of diseases that cause the retina of the eye to degenerate slowly over time. The result is declining vision and eventual blindness...The “rod” cells operate in low light levels and are the first to lose normal function. Night blindness results. Then the “cone” cells gradually lose their normal function in full light situations. Most affected dogs will eventually be blind. Typically, the clinical disease is recognized first in early adolescence or early adulthood. Since age at onset of disease varies among breeds, you should read specific information for your dog...Unfortunately, at this time there is no treatment or cure for PRA."
 Optigen ​
Von Willebrand disease (vWD)
"Von Willebrand disease (vWD) is an inherited bleeding disorder resulting from a lack or reduced level of a normal blood clotting protein called von Willebrand factor (vWF). Disease presentation varies from asymptomatic to spontaneous hemorrhaging and prolonged bleeding after injury, surgery or giving birth. Furthermore, age of onset varies with some dogs only becoming obvious “bleeders” later in life. Without medical intervention, uncontrolled bleeding can result in death."
UC Davis Veterinary Medicine 
Hyperuricosuria (HUU)
​"Dogs with this genetic mutation metabolize waste products as uric acid in their urine. The uric acid forms into hard stones in the bladder, causing pain and inflammation as the stone moves through the urinary tract. 

A dog that has difficulty urinating or appears to have an inflamed bladder may have HUU. Other signs can include blood in the urine and frequent urination. If the dog is unable to pass the urate stones without medical intervention, surgery may be required to remove them. And if the urinary tract is blocked, the condition can be life it is important to test dogs for HUU prior to breeding."
Animal Genetics