OMIA:001057 : Von Willebrand disease I
Categories: Haematopoietic system phene
Links to MONDO diseases: No links.
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.
Created by Frank Nicholas on 12 Sep 2005
Changed by Frank Nicholas on 23 Apr 2013
Changed by Frank Nicholas on 29 Aug 2013
Changed by Imke Tammen2 on 11 Sep 2021
Changed by Imke Tammen2 on 21 Apr 2022