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GENATLAS PHENOTYPE

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