Affected Gene: vWF
Transmission: Autosomal
Autosomal dominant with incomplete penetrance in Doberman Pinscher and Kromfohrländer.
In other breeds a recessive mode of inheritance.
Mutation: CanFam3.1 (chr27) g.38951839G>A c.7437G>A p.(S2479S)
OMIA Link: 001057-9615

Breeds Recommended for Testing:
Barbet, Bernese Mountain Dog, Brazilian Terrier, Cardigan Welsh Corgi, Coton de Tuléar, Doberman Pinscher, Drentse Patrijshond, Dutch Shepherd, German Pinscher, Havanese, Irish Red and White Setter, Irish Setter, Kerry Blue Terrier, Kromfohrländer, Manchester Terrier, Papillon, Pembroke Welsh Corgi, Miniature Poodle, Standard Poodle, Moyen Poodle, West Highland White Terrier

Symptoms:
Von Willebrand Disease Type I (vWD Type I) causes a coagulation disorder due to a deficiency in von Willebrand factor, which is necessary for platelet adhesion. This results in prolonged bleeding after injury. vWD is classified into three types:Type I is the mildest form, with mild to moderate bleeding symptoms.
Type II involves a deficiency in von Willebrand factor and results in moderate to severe bleeding.
Type III is the most severe form of vWD.
References: Rieger, M., Schwarz, H. P., Turecek, P. L., Dorner, F., van Mourik, J. A., & Mannhalter, C. (1998).
Identification of mutations in the canine von Willebrand factor gene associated with type III von Willebrand disease.
Thrombosis and Haemostasis, 80(2), 332-337.
Venta, P. J., Li, J., Yuzbasiyan-Gurkan, V., Brewer, G. J., & Schall, W. D. (2000).
Mutation causing von Willebrand’s Disease in Scottish Terriers.
Journal of Veterinary Internal Medicine, 14(1), 10-19.
DOI: 10.1111/j.1939-1676.2000.tb01493.x
Brooks, M. B., Erb, H. N., Foureman, P. A., & Ray, K. (2001).
von Willebrand disease phenotype and von Willebrand factor marker genotype in Doberman Pinschers.
American Journal of Veterinary Research, 62(3), 364-369.
Donner, J., Kaukonen, M., Anderson, H., Moller, F., Kyostila, K., Sankari, S., Hytonen, M., Giger, U., & Lohi, H. (2016).
Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders.
PLoS One, 11(8).
DOI: 10.1371/journal.pone.0161005
Vos-Loohuis, M., van Oost, B. A., Dangel, C., Langbein-Detsch, I., & Leegwater, P. A. (2017).
A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers.
Animal Genetics, 48(4), 493-496.
DOI: 10.1111/age.12544
Crespi, J. A., Barrientos, L.S., & Giovambattista, G. (2018).
von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina.
Journal of Veterinary Diagnostic Investigation, 30(2), 310-314.
DOI: 10.1177/1040638717750429