OMIA 001057-9823 : Von Willebrand disease I in Sus scrofa

In other species: dog

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 193400 (trait) , 613160 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

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-specific description: Pigs that are heterogeneous for a variant causing von Willebrand disease III in homozygous animals are described to be a model for von Willebrand disease I (see OMIA 001058-9823 : Von Willebrand disease III in Sus scrofa)

Edit History


  • Created by Imke Tammen2 on 10 Sep 2021
  • Changed by Imke Tammen2 on 10 Sep 2021