||Here is a compilation of known problems in the Sheltie; first published by the 1997 Edition of the Guide to Congenital and Heritable Disorders in Dogs by W. Jean Dodds, DVM, Susan Hall, DVM and Kay Inks and published by the Association of Veterinarians for Animal Rights. Links have been generously provided by the Canine Inherited Disorders Database by Alice Crook, BSc, DVM; Brian Hill, DVM, MS, DACVIM, Sue Dawson, BA, PhD, serving as a joint initiative of the Sir James Dunn Animal Welfare Centre and the Canadian Veterinary Medical Association with disease descriptions from George A. Padgett's, DVM Control of Canine Genetic Diseases along with additional ocular data obtained from the2007 Edition of Ocular Disorders as published by the American College of Veterinary Ophthalmologists. Additional disorders were notated due to personal observation and/or personal experience. Due to multiple sources, there may be duplicated terms relating to the same or similar disorders.
Key: R=recessive; D=Dominant; UND=Undetermined; X=Sex-Linked; Inc-D=Incomplete Dominance
=Under a given age; >=Over a given age.
AVAR: The most common severe inherited clotting disorder of humans and nonhuman animals. Inherited as a sex-linked recessive trait (carried by females and manifested in males). Affects most dog breeds. A blood clotting disorder due to deficiency of coagulation factor VIII.
CIDD: Hemophilia is a bleeding disorder of varying severity that is due to a deficiency in specific clotting factors. Normally the body responds to an injury that causes bleeding through a complex defense system. This consists of local changes in the damaged blood vessels, activation of blood cells called platelets, and the coagulation (clotting) process. Most inherited bleeding disorders are the result of abnormal platelet function or a deficiency in one or more of the factors involved in the blood clotting system. Hemophilia is the most common inherited coagulation factor deficiency. Hemophilia A is a result of a deficiency of factor VIII, and hemophilia B of factor IX. Hemophilia A is more common than hemophilia B, and varies in severity depending on the level of factor VIII activity. Hemophilia B is often a severe bleeding disorder. Hemophilia is an X-linked recessive. It is one of the few sex-linked traits in dogs. Because males have only one X chromosome, a male dog is either affected or clear of the defect. Females, with two X chromosomes, may be affected (abnormal gene on both chromosomes), clear, or a carrier with no clinical signs (one gene affected). In effect, the disease is carried by females but affects mostly males.
Padgett: Absence of Factor VIII in the blood causing prolonged and excessive bleeding due to failure to form a clot. Affected dogs may die. X-R/Birth.
AVAR: Same as Hemophilia A, but more rare and involves a different clotting factor. Affects about 20 dog breeds [including the Shetland sheepdog]. A blood clotting disorder due to lack of coagulation factor IX.
Padgett: Also known as Christmas Disease. Absence of Factor IX in the blood causing prolonged and excessive bleeding due to failure to form a clot. Affected dogs may die. X-R/Birth.
AVAR: A type of bleeding disorder caused by defective blood platelet function. Occurs in 59 dog breeds [including the Shetland sheepdog] but most often in Doberman pinschers. An autosomal trait affecting both sexes.
CIDD: VonWillebrand's disease (vWD) is a common, usually mild, inherited bleeding disorder in people and in dogs. It is caused by a lack of vonWillebrand factor (vWF), which plays an essential role in the blood clotting process. Three forms of the disease are distinguished based on vWF concentration and function. Dogs with Type I vWD (by far the most common) have mild to moderate bleeding abnormalities, depending on the level of vWF. The much rarer types II and III vWD cause severe bleeding disorders. The most common form (Type I vWD) is thought to be an autosomal trait with incomplete dominance. Type II & III vWD are rare and are autosomal recessives.
Padgett: Reduced Factor VIII in the blood resulting in a prolonged bleeding time; may be mild, moderate, or severe and can cause death. R/NC-D/<1yr.; Type III vWD: R; vWD not defined by DNA typing: R.
Factor VIII Deficiency or Hemophilia 'A'
Factor IX Deficiency or Hemophilia 'B'
This is a sex-linked recessive trait occurring only in males who inherit a maternal X chromosome carrying a defective gene. Females always inherit two X chromosomes, at least one of which contains a normal dominant gene. Thus females can carry the trait but do not develop the disease - the exception being a female who inherits two recessive genes: one from a hemophiliac father, and the other from a mother who is either a hemophiliac or a carrier.
Hemophilia A (most common) is a deficiency of coagulation factor VIII. Hemophilia B is a deficiency of factor IX. Hemophilia occurs in all breeds, with a predisposition for the german Shepherd Dogs, Airedale Terrier and Bichon Frise. Hemophilia produces bleeding into the chest and abdominal cavities, muscles and subcutaneous tissues. Bleeding into the joints is common.
Other coagulation deficiencies involve factors VII, X, XI and pro thrombin. These deficiencies are inherited as single factor autosomal traits, and affect males and females alike. They are less common than hemophilia. Affected breeds include the Boxer, English and American Cocker Spaniel, English Springer Spaniel, Beagle and Kerry Blue Terrier [and also the Shetland sheepdog].
The diagnosis of a coagulation factor deficiency is based on a number of clotting tests, plus an analysis for the specific factor that is deficient.
vonWillebrand's Disease (vWD)
VonWillebrand's disease (vWD) is a common, usually mild, inherited bleeding disorder in people and in dogs. The bleeding is caused by a deficiency of a plasma protein called the vonWillebrand factor (vWF), so named after
Erik vonWillebrand, who discovered the disease. vWF is critical for normal platelet function in the blood clotting process.
In most cases the bleeding in vWD is mild or inapparent, and lessens with age. Severe problems include prolonged nosebleeds, bleeding beneath the skin and into the muscles, and blood in the stool and urine. There is often a history of bleeding from the gums following tooth eruptions, and oozing from wounds following tail docking and dewclaw removal. Breeds in which bleeding is likely to be more severe include the Scottish Terrier, Shetland Sheepdog, German Shorthaired Pointer and Chesapeake Bay Retriever.
Normally the body responds to an injury causing bleeding through a complex defense system. This consists of local changes in the damaged blood vessels, activation of blood cells called platelets, and the coagulation process. A reduction in vonWillebrand factor leads to abnormal platelet function and prolonged bleeding times. Affected dogs are prone to bleeding episodes such as nose bleeds, and generally experience increased bleeding with trauma or a surgical procedure.
Three forms of the disease are distinguished based on vWF concentration and function. Dogs with Type I vWD (by far the most common) have mild to moderate bleeding abnormalities, depending on the level of vWF. The much rarer types II and III vWD cause severe bleeding disorders. Shelties are Type III-affected whereby the disease is inherited as an autosomal dominant gene with variable expression. That is, the severity of the bleeding is related to the degree to which the gene is expressed.
For more information on vWD testing, Factor III for Shelties, please follow this link:
Veterinary Genetics Services (VetGen)
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Common breeding tests for the Shetland sheepdog include eye tests, hips/elbows/knees, thyroid panels and sometimes vWD certification.
The only breeding test that can 100% identify whether or not your puppy has any one of the genetic diseases listed above is the vWD-DNA test. However, this disease is very rare in shelties, affecting 1% of the breed's population.
Eye exams certified by the Canine Eye Registration Foundation (CERF), which reports any eye abnormalities in the breed due to hereditary disease. In Shetland sheepdogs, the two main concerns are Collie Eye Anomaly (CEA) and Progressive Retinal Atrophy (PRA).
This is done through x-rays evaluated by three specialists at the Orthopedic Foundation for Animals (OFA) or PennHip (University of Pennsylvania) and is used to detect the presence of hip dysplasia. OFA will do preliminary evaluations on dogs under two years of age, but will only certify dogs over two years of age. Dogs that have preliminary certification done through OFA, should have x-rays resubmitted because they are not given a permanent rating and often times, the rating can change for better or worse.
This test is used to detect autoimmune thyroid disease. Autoimmune thyroiditis can be influenced by environmental changes, such as excessive heat; or hormonal changes, such as aging. A thyroid test is a blood test and should be a complete panel that includes Total T4, Free T4, Total T3, Free T3, T4 auto antibodies, T3 auto antibodies, TSH (thyroid stimulating hormone), and TgAA. A thyroid test is not always a conclusive diagnosis.
vWD, Factor III is a bleeding disorder in the Shetland sheepdog. The DNA test determines whether a dog is affected (two genes), a carrier (one gene), or clear of the disease. According to vetGen, affected shelties are very rare: (7% carrier-status; 1% affecteds as of January 26, 2005). Most breeders will not introduce the affected gene, but those that are breeding affected lines can easily & effectively manage its safe elimination through prudent vWD-DNA testing.
Control of Canine
by George A. Padgett, DVM
Genetics of the Dog
by Malcolm B. Willis
Home Veterinary Handbook
by James M. Giffin, MD &
Liisa D. Carlson, DVM
Genetic Aspects of
Edited by Ross D. Clark, DVM &
Joan R. Stainer
Disorders Database (CIDD)
Alice Crook, BSc, DVM
Brian Hill, DVM, MS, DACVIM
Sue Dawson, BA, PhD
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