OMIA 001056-9796 : Von Willebrand disease, generic in Equus caballus

In other species: cattle , dog , pig , rabbit , domestic cat

Category: Haematopoietic system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 177820 (trait) , 193400 (trait) , 231200 (trait) , 277480 (trait) , 314560 (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.

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year. > > >
2021 Dahlgren, A.R., Tablin, F., Finno, C.J. :
Genetics of equine bleeding disorders. Equine Vet J 53:30-37, 2021. Pubmed reference: 32463964. DOI: 10.1111/evj.13290.
2005 Laan, TT., Goehring, LS., van Oldruitenborgh-Oosterbaan, MM. :
Von Willebrand's disease in an eight-day-old quarter horse foal. Vet Rec 157:322-4, 2005. Pubmed reference: 16155242.
1997 Smith, J.M., Meyers, K.M., Barbee, D.D., Schott, H., Bayly, W.M. :
Plasma von willebrand factor in thoroughbreds in response to high-intensity treadmill exercise American Journal of Veterinary Research 58:71-76, 1997. Pubmed reference: 8989500.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005