OMIA:001056-9986 : Von Willebrand disease, generic in Oryctolagus cuniculus (rabbit)
Categories: Haematopoietic system phene
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.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
|1977||Benson, R.E., Dodds, W.J. :|
|Autosomal factor VIII deficiency in rabbits: size variation of rabbit factor VIII Thrombosis and Haemostasis 38:380, 1977. Pubmed reference: 579488.|
- Created by Frank Nicholas on 06 Sep 2005