Details of Disease

General Information of Disease (ID: DIS0XCII)

• Disease Name: Hereditary von Willebrand disease
• Synonyms: von Willebrand's disease; congenital von willebrand disease; vascular haemophilia; vascular hemophilia; von Willebrand disease; von Willebrand-Jurgens disease; von Willebrand's-Jurgens' disease; von Willebrand disorder; hereditary von Willebrand disease; congenital von willebrand's disease; hereditary von Willebrand disease (hereditary or acquired); von Willebrand-Jrgens disease; vascular pseudohemophilia
• Definition: Hereditary 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).
• Disease Hierarchy:
  DIS1DL2M: Inherited blood coagulation disorder
  DIS27CUA: Bleeding disorder
  DIS3TZCH: Von willebrand disease
  DIS0XCII: Hereditary von Willebrand disease
• Disease Identifiers:
  MONDO ID: MONDO_0019565
  UMLS CUI: C5703318
  MedGen ID: 1814986
  Orphanet ID: 903
  SNOMED CT ID: 1259242002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VWF	OTNMMA2P	Definitive	Autosomal dominant	[1]

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
VWF	TT3SZBT	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.