Von Willebrand Disease, Type 2; Vwd2

Description

Von Willebrand disease is the most common inherited bleeding disorder. It is characterized clinically by mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma. It results from a defect in platelet aggregation due to defects in the von Willebrand factor. Von Willebrand factor is a large, multimeric protein that plays a role in platelet adhesion and also serves as a carrier for the thrombotic protein factor VIII (F8 ). F8 is mutated in hemophilia A (OMIM ) (review by Goodeve, 2010).Whereas von Willebrand disease types 1 (OMIM ) and 3 (OMIM ) are characterized by quantitative defects in the VWF gene, von Willebrand disease type 2, which is divided in subtypes 2A, 2B, 2M, and 2N, is characterized by qualitative abnormalities of the VWF protein. The mutant VWF protein in types 2A, 2B, and 2M are defective in their platelet-dependent function, whereas the mutant protein in type 2N is defective in its ability to bind F8. VWD2 accounts for 20 to 30% of cases of VWD (Mannucci, 2004; Sadler et al., 2006; Lillicrap, 2009; Goodeve, 2010).For a general discussion and a classification of the types of von Willebrand disease, see VWD type 1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Von Willebrand Disease, Type 2; Vwd2

  • Thrombocytopenia
  • Bruising susceptibility
  • Epistaxis
  • Menorrhagia
  • Prolonged bleeding after surgery

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Von Willebrand Disease, Type 2; Vwd2 Is also known as vwd, type 2, von willebrand disease, type ii.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Von Willebrand Disease, Type 2; Vwd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
von Willebrand Disease mutations.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

VWF
Specificity
100 %
Genes
100 %
von Willebrand Factor Normandy.

By Clinical Molecular Diagnostic Laboratory City of Hope National Medical Center (United States).

VWF
Specificity
100 %
Genes
100 %
DNA von Willebrand Disease mutations.

By Genomics - Bleeding Disorders BloodworksNW (United States).

VWF
Specificity
100 %
Genes
100 %
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Thrombocytopenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

CFB, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, RUNX1T1, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Thrombocytopenia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

CFB, RUNX1, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
VWD Type 2N (VWF) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

VWF
Specificity
100 %
Genes
100 %
VWD Type 2M (VWF) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

VWF
Specificity
100 %
Genes
100 %

You can get up to 54 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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