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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 7/09/2007
Symbol VWF
Location 12p13.1
Name Von Willebrand disease, types I, II A and II B
Corresponding gene VWF
related resource VonWillebranddisease
Other symbol(s) F8VWF
Main clinical features
  • prolonged bleeding time; major clinical problems were gastrointestinal, urinary, and uterine bleeding, hemarthroses rare
  • platelet is intrinsically normal but with reduced adhesiveness because of factor VIII deficiency, and low antihemophilic globulin (AHG; factor VIII)
  • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder hematology
    Type disease
    Gene product
    Name coagulation factor VIII/VWF, von Willebrand factor (F8VWF)
    Remark(s) . common 253-kb deletion involving VWF and ANO2 in patients with severe von Willebrand disease