OMIA:001339-9796 : Von Willebrand disease II in Equus caballus (horse)

In other species: dog

Categories: Haematopoietic system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613554 (trait) , 613160 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

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.

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

Breeds: Quarter Horse (Horse) (VBO_0001057), Thoroughbred (Horse) (VBO_0001083).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2013). OMIA:001339-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.
2001 Rathgeber, R.A., Brooks, M.B., Bain, F.T., Byars, T.D. :
Clinical vignette. Von Willebrand disease in a Thoroughbred mare and foal. J Vet Intern Med 15:63-6, 2001. Pubmed reference: 11215915.
1991 Brooks, M., Leith, G.S., Allen, A.K., Woods, P.R., Benson, R.E., Dodds, W.J. :
Bleeding Disorder (Vonwillebrand Disease) in a Quarter Horse Journal of the American Veterinary Medical Association 198:114-116, 1991. Pubmed reference: 1995565.

Edit History

  • Created by Frank Nicholas on 23 Apr 2013