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

In other species: dog

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

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.

Breeds: Quarter Horse, Thoroughbred.

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.
2020 Dahlgren, A.R., Tablin, F., Finno, C.J. :
Genetics of equine bleeding disorders. Equine Vet J :, 2020. 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.

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  • Created by Frank Nicholas on 23 Apr 2013