OMIA:001057 : Von Willebrand disease I

Categories: Haematopoietic system phene

Possible human homologues (MIM numbers): 193400 (trait) , 613160 (gene)

Cross-species summary: The von Willebrand factor (vWF) is a large multimeric plasma glycoprotein required for platelet adhesion and aggregation. A deficiency or defective vWF results in von Willebrand disease (vWD). vWD are often classified in 3 different types based on the clinical severity and quantity and multimere size of von Willebrand factor. Type I is characterized by low plasma vWF concentrations and mild to moderate bleeding symptoms. Type II disorder is characterised by qualitative abnormalities of the vWF protein and moderate to severe bleeding. Type III is the most severe form of vWD with no detectable or a severe quantitative deficiency of vWF.

Species in which this phene is found:
dog (Canis lupus familiaris)
pig (Sus scrofa)

Edit History

  • Created by Frank Nicholas on 12 Sep 2005
  • Changed by Frank Nicholas on 23 Apr 2013
  • Changed by Frank Nicholas on 29 Aug 2013
  • Changed by Imke Tammen2 on 11 Sep 2021
  • Changed by Imke Tammen2 on 21 Apr 2022