Details of Disease

General Information of Disease (ID: DISEYUBR)

• Disease Name: Von Willebrand disease 2
• Synonyms: Von Willebrand disease, type 2B; Von Willebrand disease, type 2M; Von Willebrand disease, type 2N; VWD, type 2; VON WILLEBRAND disease, type 2; Von Willebrand disease, type 2; Von Willebrand disease, type 2A; von willebrand's disease 2; von Willebrand disease type 2; von Willebrand's disease type 2; von Willebrand disease, types 2A, 2B, 2M, and 2N; von Willebrand disease type II; VWD type 2; VWD2; von Willebrand disease 2
• Definition: Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF).
• Disease Hierarchy:
  DIS0XCII: Hereditary von Willebrand disease
  DISEYUBR: Von Willebrand disease 2
• Disease Identifiers:
  MONDO ID: MONDO_0013304
  MESH ID: D056728
  UMLS CUI: C1264040
  OMIM ID: 613554
  MedGen ID: 224736
  Orphanet ID: 166081
  SNOMED CT ID: 128107007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VWF	OTNMMA2P	Definitive	Autosomal dominant	[1]
CLEC4M	OT2WUIIP	Strong	Altered Expression	[3]
SPRR2A	OT62ZU6B	Strong	Genetic Variation	[4]
STXBP5	OTE3M7QB	Strong	Genetic Variation	[3]

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
F8	TT1290U	Limited	Biomarker	[2]
VWF	TT3SZBT	Definitive	Autosomal dominant	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [2] The Course of von Willebrand Factor and Factor VIII Activity in Patients with von Willebrand Disease during Pregnancy.Acta Haematol. 2019;142(2):71-78. doi: 10.1159/000496820. Epub 2019 May 14.
• [3] CLEC4M and STXBP5 gene variations contribute to von Willebrand factor level variation in von Willebrand disease.J Thromb Haemost. 2015 Jun;13(6):956-66. doi: 10.1111/jth.12927. Epub 2015 May 9.
• [4] A new variant of von Willebrand disease (type II I) with a normal degree of proteolytic cleavage of von Willebrand factor.Thromb Res. 1992 Feb 1;65(3):343-51. doi: 10.1016/0049-3848(92)90165-7.