Von Willebrand Disease, Type 1; Vwd1

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. The disorder results from a defect in platelet aggregation due to defects in the von Willebrand factor protein. 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 (summary by Goodeve, 2010).For a review of the various forms of von Willebrand disease, see Leebeek and Eikenboom (2016). Classification of von Willebrand DiseaseThe classification of von Willebrand disease has a long and complex history. The current classification is based on that described by Sadler (1994) and updated by Sadler et al. (2006), which delineates 3 main subtypes according to the mutant protein phenotype. An earlier classification developed by a working party of the European Thrombosis Research Organization was provided by Zimmerman and Ruggeri (1983).Von Willebrand Disease Type 1VWD type 1 is a quantitative partial deficiency of circulating VWF. In this type of VWD, there is a normal ratio of functional VWF activity (VWF:RCo, ristocetin cofactor activity) relative to VWF antigen level (VWF:Ag) (Sadler et al., 2006, Goodeve, 2010). Mannucci (2004) stated that type 1 VWD accounts for 60 to 80% of all VWD cases and is characterized by mild to moderate quantitative deficiencies of VWF and factor VIII, which are coordinately reduced to 5 to 30% of normal plasma levels (pathogenic levels of 5 to 30 IU/dL). In an updated consensus statement, Sadler et al. (2006) noted that (1) some cases of VWF type 1 may have subtle abnormal VWF multimer patterns, but still retain normal functional activity, and (2) that loci other than VWF may be responsible for some cases of VWD.In reviews, James and Lillicrap (2008) and Lillicrap (2009) stated that the knowledge of the pathogenesis and molecular basis of type 1 VWD is still in its infancy and still evolving. Population studies have indicated that type 1 VWD is a complex genetic trait associated with a variety of genetic and environmental factors, and that additional loci in addition to VWF are likely involved. There is still uncertainty about the pathogenicity of many identified putative VWF variants, and the incomplete penetrance and variable expressivity of type 1 disease contributes to complexity in diagnosis and understanding of disease pathogenesis.Von Willebrand Disease Type 2VWD type 2 (OMIM ), which accounts for 10 to 30% of cases, is characterized by qualitative abnormalities of VWF; it is further divided into subtypes 2A, 2B, 2M, and 2N. 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 (Mannucci, 2004; Sadler et al., 2006; Goodeve, 2010).Von Willebrand Disease Type 3VWD type 3 (OMIM ), which accounts for 1 to 5% of cases, is characterized by a severe quantitative defect of VWF in plasma (less than 1% of normal plasma levels), with low but usually detectable levels of factor VIII (1 to 10% of normal plasma levels). In the rare type 3 disease (1 in 1 million people), symptoms are more frequent and severe (Mannucci, 2004, Sadler et al., 2006).

Clinical Features

Top most frequent phenotypes and symptoms related to Von Willebrand Disease, Type 1; Vwd1

  • Nevus
  • Erythema
  • Autoimmunity
  • Bruising susceptibility
  • Gastrointestinal hemorrhage
  • Mitral valve prolapse
  • Epistaxis
  • Aortic valve stenosis
  • Abnormality of the genitourinary system
  • Systemic lupus erythematosus
And another 7 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Von Willebrand Disease, Type 1; Vwd1 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 in United States.

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

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

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

By Genomics - Bleeding Disorders BloodworksNW in United States.

VWF
Specificity
100 %
Genes
100 %
Platelet Disorders.

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

RUNX1, DTNBP1, HPS1, HPS6, HPS5, HPS4, HPS3, AP3B1, ANKRD26, DPAGT1, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, LYST, VWF, GNAS, F8 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Thrombocytopenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3 , (...)

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

By Genetic Services Laboratory University of Chicago in United States.

RUNX1, CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1 , (...)

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

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

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

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

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

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

VWF
Specificity
100 %
Genes
100 %
VWD2A (VWF) Seq with Reflex to 9 exons.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

VWF
Specificity
100 %
Genes
100 %
Von Willebrand Disease.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

VWF
Specificity
100 %
Genes
100 %
VWF. Sequencing of the exons 12-20 and 52.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

VWF
Specificity
100 %
Genes
100 %
VWF. Sequencing of the exon 28.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

VWF
Specificity
100 %
Genes
100 %
VWF. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

VWF
Specificity
100 %
Genes
100 %
VWF. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

VWF
Specificity
100 %
Genes
100 %
VWF. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

VWF
Specificity
100 %
Genes
100 %
VWF. Sequencing of the exons 18-28.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

VWF
Specificity
100 %
Genes
100 %
von Willebrand Factor gene sequencing.

By Molecular Diagnostics Laboratory Hospital Sainte-Justine in Canada.

VWF
Specificity
100 %
Genes
100 %
Von Willebrand disease, Normandie type (sequence analysis of exon 28 of VWF gene).

By CGC Genetics in Portugal.

VWF
Specificity
100 %
Genes
100 %
Von Willebrand disease (sequence analysis of VWF gene).

By CGC Genetics in Portugal.

VWF
Specificity
100 %
Genes
100 %
Von Willebrand disease (deletions/duplications of VWF gene).

By CGC Genetics in Portugal.

VWF
Specificity
100 %
Genes
100 %
Bleeding Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Coagulation Factor Deficiency Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F2, F5, F11, VWF, F9, F8, FGA, FGB, GGCX, FGG, SERPINE1, VKORC1, F7, F10, F12, F13A1, F13B, MCFD2, SERPINF2, LMAN1
Specificity
5 %
Genes
100 %
von Willebrand Disease Types 1, 2, and 3 via the VWF Gene.

By PreventionGenetics PreventionGenetics in United States.

VWF
Specificity
100 %
Genes
100 %
Platelet bleeding disorders NGS panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Platelet bleeding disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Platelet bleeding disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
von Willebrand disease.

By Centogene AG - the Rare Disease Company in Germany.

VWF
Specificity
100 %
Genes
100 %
Von Willebrand Disease (VWF).

By Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust in United Kingdom.

VWF
Specificity
100 %
Genes
100 %
von Willebrand Disease.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

VWF
Specificity
100 %
Genes
100 %
Platelets, Coagulation disorders Panel.

By CeGaT GmbH in Germany.

F2, F5, VHL, ENTPD1, F11, VWF, F8, ADAMTS13, SERPINE1, TET2, ETV6, PDGFRB, F10, F12, DSG1, F13A1, SERPINC1
Specificity
6 %
Genes
100 %
von Willebrand Disease (VWF).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

VWF
Specificity
100 %
Genes
100 %
Von Willebrand disease, VWF sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

VWF
Specificity
100 %
Genes
100 %
VWD Type 2N Sequence Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

VWF
Specificity
100 %
Genes
100 %
VWF Full Gene Sequencing.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

VWF
Specificity
100 %
Genes
100 %
VWD Type 2M Exon 28 Sequence Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

VWF
Specificity
100 %
Genes
100 %
VWD Type 2A/2B Reflex Sequence Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

VWF
Specificity
100 %
Genes
100 %
VWD Type 1C (Clearance) Sequence Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

VWF
Specificity
100 %
Genes
100 %
VWF D1472H Ristocetin-Binding Polymorphism.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

VWF
Specificity
100 %
Genes
100 %
aCGH Deletion/Duplication Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Von Willebrand Disease.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

VWF
Specificity
100 %
Genes
100 %
von Willebrand disease.

By Regional Molecular Haemostasis Laboratory Birmingham Childrens Hospital NHS Foundation Trust in United Kingdom.

VWF
Specificity
100 %
Genes
100 %
Von Willebrand disease: VWF gene screening (exons 3-19).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

VWF
Specificity
100 %
Genes
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
100 %
Coagulation NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VWF, F9, F8, GP1BA
Specificity
25 %
Genes
100 %
VWF.

By Fulgent Genetics Fulgent Genetics in United States.

VWF
Specificity
100 %
Genes
100 %
von Willebrand Disease Mutation Analysis.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

VWF
Specificity
100 %
Genes
100 %
von Willebrand Disease Mutation Analysis (NY).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

VWF
Specificity
100 %
Genes
100 %
Bleeding Disorder/Coagulopathy Panel.

By Blueprint Genetics in Finland.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Coagulation Factor Deficiency Panel.

By Blueprint Genetics in Finland.

F2, F5, F11, VWF, F9, F8, FGA, FGB, GGCX, FGG, VKORC1, F7, F10, F12, F13A1, LMAN1
Specificity
7 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
100 %
Von Willebrand disease type 1.

By Bioarray in Spain.

VWF
Specificity
100 %
Genes
100 %
Von Willebrand disease type 3.

By Bioarray in Spain.

VWF
Specificity
100 %
Genes
100 %
Von Willebrand disease type 2.

By Bioarray in Spain.

VWF
Specificity
100 %
Genes
100 %
VON WILLEBRAND DISEASE.

By Laboratorio de Genetica Clinica SL in Spain.

VWF
Specificity
100 %
Genes
100 %
Von Willebrand Disease Types 2A,2B,2M,2N, Sequencing VWF Gene.

By Reference Laboratory Genetics in Spain.

VWF
Specificity
100 %
Genes
100 %
Von Willebrand Disease Type 1, Sequencing VWF Gene.

By Reference Laboratory Genetics in Spain.

VWF
Specificity
100 %
Genes
100 %
Von Willebrand Disease Type 3 , Sequencing VWF Gene.

By Reference Laboratory Genetics in Spain.

VWF
Specificity
100 %
Genes
100 %
Von Willebrand Disease, Deletions-Duplications (MLPA) VWF Gene.

By Reference Laboratory Genetics in Spain.

VWF
Specificity
100 %
Genes
100 %
Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes.

By Reference Laboratory Genetics in Spain.

F2, F5, MTHFR, F11, VWF, F9, F8, ADAMTS13, GP1BA, FGA, FGB, FGG, ITGB3, ITGA2B, GP1BB, F7, GP9, F10, F12, F13A1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
von Willebrand Disease: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VWF
Specificity
100 %
Genes
100 %
von Willebrand Disease: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VWF
Specificity
100 %
Genes
100 %

Alternate names

Von Willebrand Disease, Type 1; Vwd1 Is also known as von willebrand disease, type i, vwd, type 1;.



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