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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]: