Von Willebrand disease
From SNPedia
Von Willebrand disease is a bleeding disorder affecting both sexes that may be carried by up to 2 to 5 percent of people with European ancestry, particularly Scandinavian. It has also been called pseudohemophilia, vascular hemophilia, or the thalassemia of coagulation. Wikipedia
Von Willebrand factor is part of the factor VIII complex involved in blood clotting. There several forms of Von Willebrand disease, which vary in severity and in their mode of inheritance [PMID 19190813],[PMID 16889557]:
| VWD Type | Mode of Inheritance | Description |
|---|---|---|
| Type 1 | Dominant | Partial quantitative deficiency of VWF |
| Type 2A | Dominant | Qualitative VWF defect resulting in a reduction of VWF-dependent platelet adhesion |
| Type 2B | Dominant | Qualitative VWF defect resulting in increased VWF-dependent platelet adhesion |
| Type 2M | Dominant | Qualitative VWF defect associated with specific defects in platelet/VWF interaction |
| Type 2N | recessive | Qualitative VWF defect resulting from defective VWF binding to coagulation factor VIII (FVIII) and consequently low levels of circulating FVIII |
| Type 3 | recessive | Clinically severe quantitative disorder resulting from a markedly reduced or absent platelet and plasma VWF |
For the list of SNPs in SNPedia from the VWF gene, go to the VWF gene page.
Some VWF SNPs are associated with osteoarthritis; in a Japanese population, these include [PMID 18622395]:
