Details of Disease

General Information of Disease (ID: DISPVXSD)

• Disease Name: Von Willebrand disease 3
• Synonyms: VWD, type 3; VON WILLEBRAND disease, type 3; Von Willebrand disease, type 3; von Willebrand's disease 3; VWD3; von Willebrand's disease type 3; von Willebrand disease type III; von Willebrand disease type 3; von Willebrand disease 3; VWD type 3
• Definition: Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).
• Disease Hierarchy:
  DIS0XCII: Hereditary von Willebrand disease
  DISPVXSD: Von Willebrand disease 3
• Disease Identifiers:
  MONDO ID: MONDO_0010191
  MESH ID: D056729
  UMLS CUI: C1264041
  OMIM ID: 277480
  MedGen ID: 266075
  Orphanet ID: 166096
  SNOMED CT ID: 128108002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VWF	OTNMMA2P	Supportive	Autosomal recessive	[1]
ANO2	OT650E98	Strong	Biomarker	[4]
SACM1L	OT6ORKTD	Strong	Genetic Variation	[5]

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
VWF	TT3SZBT	Supportive	Autosomal recessive	[1]
F8	TT1290U	Strong	Genetic Variation	[2]
GP6	TTTJUVZ	Strong	Biomarker	[3]

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] Platelets compensate for poor thrombin generation in type 3 von Willebrand disease.Platelets. 2020;31(1):103-111. doi: 10.1080/09537104.2019.1581922. Epub 2019 Mar 5.
• [3] Pathologic shear triggers shedding of vascular receptors: a novel mechanism for down-regulation of platelet glycoprotein VI in stenosed coronary vessels.Blood. 2012 May 3;119(18):4311-20. doi: 10.1182/blood-2011-10-386607. Epub 2012 Mar 19.
• [4] A common 253-kb deletion involving VWF and TMEM16B in German and Italian patients with severe von Willebrand disease type 3.J Thromb Haemost. 2007 Apr;5(4):722-8. doi: 10.1111/j.1538-7836.2007.02460.x. Epub 2007 Feb 26.
• [5] The inheritance of type I and type III von Willebrand's disease in Israel: linkage analysis, carrier detection and prenatal diagnosis using three intragenic restriction fragment length polymorphisms.Blood Coagul Fibrinolysis. 1992 Apr;3(2):167-77.