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Von Willebrand Disease Type 1 (VWD1)

Von Willebrand Disease Type 1 (VWD1)

Pseudohemophilia, Vascular Hemophilia, von Willebrand Disease Type 1, von Willebrand's disease

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’s disease type 1 (VWD1) results in a reduction in normal levels of VWf to approximately 5-10% of normal. Since some vWf is produced in dogs homozygous for the VWD1 mutation, this form of the disorder is considered to be less serious than types 2 and 3. Typical symptoms of the disease encompass excessive or abnormal bleeding following injury or the presence of blood in various bodily secretions (urine, feces, etc.).

Reading Your Results

A. (CLEAR/NORMAL):

These dogs have two copies of the normal gene and will neither develop von Willebrand Disease Type 1 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 1 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 1 and are susceptible to developing problems with blood clotting.

Additional Details

Inheritances

Autosomal Recessive

Affected gene

VWF

Chromosome

Ch. 27

Mutation

Chr27:38951839 (CanFam3): G>A

Publication:

Brooks MB, Erb HN, Foureman PA, Ray K. von Willebrand disease phenotype and von Willebrand factor marker genotype in Doberman Pinschers. Am J Vet Res. 2001 Mar;62(3):364-9. [PubMed: 11277201]