Von Willebrand Disease Type 3 Kooikerhonje (VWD3-KOOK)
Pseudohemophilia, Vascular Hemophilia, von Willebrand's Disease, VWDIII
Von Willebrand Disease (vWD) is a genetic disorder that prevents normal blood clotting and can cause extended bleeding following injury. The disorder results from a deficiency or lack of sufficient von Willebrand factor (vWf) which functions as a binding protein during blood clotting. Three types of vWD have been identified in dogs to date and are known as vWD types 1, 2, and 3. Within these three types, there are five different genetic mutations that are currently known that lead to canine vWD. Von Willebrand Disease type 3 (VWD3) is a very severe form of the disease in which affected animals produce no von Willebrand Factor protein in their blood. This condition makes affected dogs likely to suffer from abnormal and severe bleeding which can lead to life-threatening consequences in common minor injuries or surgical procedures.
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These dogs have two copies of the normal gene and will neither develop von Willebrand Disease Type 3 nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop von Willebrand Disease Type 3 but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with von Willebrand Disease Type 3 and are susceptible to developing severe problems with blood clotting.
Chr27:38892182 (CanFam3): G>A
Rieger M, Schwarz HP, Turecek PL, Dorner F, van Mourik JA, Mannhalter C. Identification of mutations in the canine von Willebrand factor gene associated with type III von Willebrand disease. Thromb Haemost. 1998 Aug; 80(2):332-7. [PubMed: 9716162]