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MedGen (OMIM) for PubMed (Select 8052974)

Items: 2


von Willebrand disease type 1

von Willebrand disease (VWD), a congenital bleeding disorder caused by deficient or defective plasma von Willebrand factor (VWF), may only become apparent on hemostatic challenge, and bleeding history may become more apparent with increasing age. Type 1 VWD (~70% of VWD) typically manifests as mild mucocutaneous bleeding. Type 2 VWD accounts for approximately 25% of VWD; the subtypes are: Type 2A, which usually manifests as mild to moderate mucocutaneous bleeding; Type 2B, which typically manifests as mild to moderate mucocutaneous bleeding that can include thrombocytopenia that worsens in certain circumstances; Type 2M, which typically manifests as mild-moderate mucocutaneous bleeding; Type 2N, which can manifest as excessive bleeding with surgery and mimics mild hemophilia A. Type 3 VWD (<5% of VWD) manifests with severe mucocutaneous and musculoskeletal bleeding. [from GeneReviews]

MedGen UID:
Concept ID:
Disease or Syndrome

Factor VIII+von Willebrand factor

MedGen UID:
Concept ID:
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance

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