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Von Willebrand disease

Disease definition

von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms).

ORPHA:903

  • Synonym(s):
    • Hereditary von Willebrand disease
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: D68.0
  • OMIM: 193400  277480  314560  613554
  • UMLS: C0042974
  • MeSH: D014842
  • GARD: -
  • MedDRA: 10047715

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