Details of Disease

General Information of Disease (ID: DISTAHJN)

• Disease Name: Von Willebrand disease type 2A
• Synonyms: von Willebrand disease, type 2A
• Definition: Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers.
• Disease Hierarchy:
  DISEYUBR: Von Willebrand disease 2
  DISTAHJN: Von Willebrand disease type 2A
• Disease Identifiers:
  MONDO ID: MONDO_0015628
  MESH ID: D056728
  UMLS CUI: C1282968
  MedGen ID: 220920
  Orphanet ID: 166084
  SNOMED CT ID: 359711001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VWF	OTNMMA2P	Supportive	Autosomal dominant	[1]
PRB2	OTAD4JZ0	Limited	Genetic Variation	[3]

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ADAMTS13	TTUREBK	Limited	Genetic Variation	[2]
VWF	TT3SZBT	Supportive	Autosomal dominant	[1]

References

• [1] von Willebrand Disease. 2009 Jun 4 [updated 2017 Oct 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
• [2] A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.PLoS One. 2017 Nov 29;12(11):e0188405. doi: 10.1371/journal.pone.0188405. eCollection 2017.
• [3] C1272S: a new candidate mutation in type 2A von Willebrand disease that disrupts the disulfide loop responsible for the interaction of VWF with platelet GP Ib-IX.Am J Hematol. 2004 Feb;75(2):73-7. doi: 10.1002/ajh.10455.