In other species: dog

Categories: Haematopoietic system phene

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

Links to MONDO diseases: No links.

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)

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing