VWF gene related symptoms and diseases
All the information presented here about the VWF gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to VWF gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Prolonged bleeding after surgery | Uncommon - Between 30% and 50% cases |
| Epistaxis | Uncommon - Between 30% and 50% cases |
| Menorrhagia | Uncommon - Between 30% and 50% cases |
| Bruising susceptibility | Uncommon - Between 30% and 50% cases |
| Prolonged bleeding time | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with VWF gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Gastrointestinal hemorrhage
- Thrombocytopenia
- Impaired platelet aggregation
- Joint hemorrhage
- Reduced factor VIII activity
- Persistent bleeding after trauma
- Prolonged whole-blood clotting time
- Gastrointestinal angiodysplasia
And 6 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to VWF gene
Here you will find a list of rare diseases related to the VWF. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
VON WILLEBRAND DISEASE TYPE 1
Alternate names
VON WILLEBRAND DISEASE TYPE 1 Is also known as von willebrand disease, type i, vwd, type 1
Description
Type 1 von Willebrand disease (type 1 VWD) is a form of VWD (see this term) characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).
Most common symptoms of VON WILLEBRAND DISEASE TYPE 1
- Autoimmunity
- Bruising susceptibility
- Gastrointestinal hemorrhage
- Mitral valve prolapse
- Epistaxis
More info about VON WILLEBRAND DISEASE TYPE 1
VON WILLEBRAND DISEASE TYPE 3
Alternate names
VON WILLEBRAND DISEASE TYPE 3 Is also known as vwd, type 3, von willebrand disease, type iii
Description
Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD (see this term) 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).
Most common symptoms of VON WILLEBRAND DISEASE TYPE 3
- Thrombocytopenia
- Bruising susceptibility
- Gastrointestinal hemorrhage
- Epistaxis
- Menorrhagia
More info about VON WILLEBRAND DISEASE TYPE 3
VON WILLEBRAND DISEASE TYPE 2N
Description
Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD (see this term) characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII).
More info about VON WILLEBRAND DISEASE TYPE 2N
SOURCES: ORPHANET
VON WILLEBRAND DISEASE TYPE 2M
Description
Type 2M von Willebrand disease (type 2M VWD) is a subtype of type 2 VWD (see this term) 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 in the absence of any deficiency of high molecular weight VWF multimers.
More info about VON WILLEBRAND DISEASE TYPE 2M
SOURCES: ORPHANET
VON WILLEBRAND DISEASE TYPE 2B
Description
Type 2B von Willebrand disease (type 2B VWD) is a subtype of type 2 VWD (see this term) characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma.
More info about VON WILLEBRAND DISEASE TYPE 2B
SOURCES: ORPHANET
VON WILLEBRAND DISEASE TYPE 2A
Description
Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD (see this term) 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.
More info about VON WILLEBRAND DISEASE TYPE 2A
SOURCES: ORPHANET
VON WILLEBRAND DISEASE, TYPE 2; VWD2
Alternate names
VON WILLEBRAND DISEASE, TYPE 2; VWD2 Is also known as vwd, type 2, von willebrand disease, type ii
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 ).
Most common symptoms of VON WILLEBRAND DISEASE, TYPE 2; VWD2
- Thrombocytopenia
- Bruising susceptibility
- Epistaxis
- Menorrhagia
- Prolonged bleeding after surgery
More info about VON WILLEBRAND DISEASE, TYPE 2; VWD2
Search interest in VWF
Potential gene panels for VWF gene
von Willebrand Disease mutations Panel
United States.
By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
This panel specifically test the VWF gene.
More info about this panel United States.
von Willebrand Factor Normandy Panel
United States.
By Clinical Molecular Diagnostic Laboratory City of Hope National Medical Center
This panel specifically test the VWF gene.
More info about this panel United States.
DNA von Willebrand Disease mutations Panel
United States.
By Genomics - Bleeding Disorders BloodworksNW
This panel specifically test the VWF gene.
More info about this panel United States.
Platelet Disorders Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Platelet Disorders that also includes the following genes: RUNX1 STIM1 TBXA2R TBXAS1 USF1 VPS33B VWF WAS GP6 HPS3
More info about this panel United States.
Thrombocytopenia Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Thrombocytopenia Sequencing Panel that also includes the following genes: CFB SRC TERC TERT THBD VWF WAS C3 ADAMTS13 ABCG5
More info about this panel United States.
Thrombocytopenia Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Thrombocytopenia Deletion/Duplication Panel that also includes the following genes: CFB RUNX1 SRC TERC TERT THBD VWF WAS C3 ADAMTS13
More info about this panel United States.
VWD Type 2N (VWF) Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the VWF gene.
More info about this panel United States.
VWD Type 2M (VWF) Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the VWF gene.
More info about this panel United States.
VWD Type 2B (VWF) Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the VWF gene.
More info about this panel United States.
VWD2A (VWF) Seq with Reflex to 9 exons Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the VWF gene.
More info about this panel United States.
Von Willebrand Disease Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the VWF gene.
More info about this panel United Kingdom.
VWF. Sequencing of the exons 12-20 and 52 Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the VWF gene.
More info about this panel Spain.
VWF. Sequencing of the exon 28 Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the VWF gene.
More info about this panel Spain.
VWF. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the VWF gene.
More info about this panel Spain.
VWF. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the VWF gene.
More info about this panel Spain.
VWF. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the VWF gene.
More info about this panel Spain.
VWF. Sequencing of the exons 18-28 Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the VWF gene.
More info about this panel Spain.
von Willebrand Factor gene sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the VWF gene.
More info about this panel United States.
Von Willebrand disease, Normandie type (sequence analysis of exon 28 of VWF gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the VWF gene.
More info about this panel Portugal.
Von Willebrand disease (sequence analysis of VWF gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the VWF gene.
More info about this panel Portugal.
Von Willebrand disease (deletions/duplications of VWF gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the VWF gene.
More info about this panel Portugal.
Bleeding Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Bleeding Disorders Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 TBXA2R TBXAS1 VWF WAS ADAMTS13 ABCG5 ABCG8 GP6 HPS3
More info about this panel United States.
Coagulation Factor Deficiency Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Coagulation Factor Deficiency Sequencing Panel with CNV Detection that also includes the following genes: VWF MCFD2 VKORC1 F10 F11 F12 F13A1 F13B F2 F5
More info about this panel United States.
von Willebrand Disease Types 1, 2, and 3 via VWF Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the VWF gene.
More info about this panel United States.
Platelet bleeding disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Platelet bleeding disorders NGS panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1
More info about this panel United States.
Platelet bleeding disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Platelet bleeding disorders Deletion / Duplication panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1
More info about this panel United States.
Platelet bleeding disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Platelet bleeding disorders Comprehensive panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1
More info about this panel United States.
von Willebrand disease Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the VWF gene.
More info about this panel Germany.
Von Willebrand Disease (VWF) Panel
United Kingdom.
By Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust
This panel specifically test the VWF gene.
More info about this panel United Kingdom.
von Willebrand Disease Panel
Italy.
By Medical Genetics Laboratory Bambino Gesù Children's Hospital
This panel specifically test the VWF gene.
More info about this panel Italy.
Platelets, Coagulation disorders Panel Panel
Germany.
By CeGaT GmbH Platelets, Coagulation disorders Panel that also includes the following genes: VHL VWF ADAMTS13 TET2 DSG1 ENTPD1 ETV6 F10 F11 F12
More info about this panel Germany.
von Willebrand Disease (VWF) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the VWF gene.
More info about this panel Germany.
Von Willebrand disease, VWF sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the VWF gene.
More info about this panel United States.
VWD Type 2N Sequence Analysis Panel
United States.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti
This panel specifically test the VWF gene.
More info about this panel United States.
VWF Full Gene Sequencing Panel
United States.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti
This panel specifically test the VWF gene.
More info about this panel United States.
VWD Type 2M Exon 28 Sequence Analysis Panel
United States.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti
This panel specifically test the VWF gene.
More info about this panel United States.
VWD Type 2A/2B Reflex Sequence Analysis Panel
United States.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti
This panel specifically test the VWF gene.
More info about this panel United States.
VWD Type 1C (Clearance) Sequence Analysis Panel
United States.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti
This panel specifically test the VWF gene.
More info about this panel United States.
VWF D1472H Ristocetin-Binding Polymorphism Panel
United States.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti
This panel specifically test the VWF gene.
More info about this panel United States.
aCGH Deletion/Duplication Analysis Panel
United States.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aCGH Deletion/Duplication Analysis that also includes the following genes: CFB RUNX1 STXBP2 TBXA2R THBD VWF WAS C3 C4BPA C4BPB
More info about this panel United States.
Von Willebrand Disease Panel
Colombia.
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the VWF gene.
More info about this panel Colombia.
von Willebrand disease Panel
United Kingdom.
By Regional Molecular Haemostasis Laboratory Birmingham Childrens Hospital NHS Foundation Trust
This panel specifically test the VWF gene.
More info about this panel United Kingdom.
Von Willebrand disease: VWF gene screening (exons 3-19) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the VWF gene.
More info about this panel Spain.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
Coagulation NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Coagulation NGS Panel that also includes the following genes: VWF F8 F9 GP1BA
More info about this panel United States.
VWF Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the VWF gene.
More info about this panel United States.
von Willebrand Disease Mutation Analysis Panel
United States.
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the VWF gene.
More info about this panel United States.
von Willebrand Disease Mutation Analysis (NY) Panel
United States.
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the VWF gene.
More info about this panel United States.
Bleeding Disorder/Coagulopathy Panel Panel
Finland.
By Blueprint Genetics Bleeding Disorder/Coagulopathy Panel that also includes the following genes: RUNX1 SRC TBXA2R THBD VWF WAS ADAMTS13 ABCG5 ABCG8 HPS3
More info about this panel Finland.
Coagulation Factor Deficiency Panel Panel
Finland.
By Blueprint Genetics Coagulation Factor Deficiency Panel that also includes the following genes: VWF VKORC1 F10 F11 F12 F13A1 F2 F5 F7 F8
More info about this panel Finland.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
Von Willebrand disease type 1 Panel
Spain.
By Bioarray
This panel specifically test the VWF gene.
More info about this panel Spain.
Von Willebrand disease type 3 Panel
Spain.
By Bioarray
This panel specifically test the VWF gene.
More info about this panel Spain.
Von Willebrand disease type 2 Panel
Spain.
By Bioarray
This panel specifically test the VWF gene.
More info about this panel Spain.
VON WILLEBRAND DISEASE Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the VWF gene.
More info about this panel Spain.
Von Willebrand Disease Types 2A,2B,2M,2N, Sequencing VWF Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the VWF gene.
More info about this panel Spain.
Von Willebrand Disease Type 1, Sequencing VWF Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the VWF gene.
More info about this panel Spain.
Von Willebrand Disease Type 3 , Sequencing VWF Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the VWF gene.
More info about this panel Spain.
Von Willebrand Disease, Deletions-Duplications (MLPA) VWF Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the VWF gene.
More info about this panel Spain.
Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes Panel
Spain.
By Reference Laboratory Genetics Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes that also includes the following genes: VWF ADAMTS13 MCFD2 F10 F11 F12 F13A1 F2 F5 F7
More info about this panel Spain.
von Willebrand Disease: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the VWF gene.
More info about this panel Canada.
von Willebrand Disease: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the VWF gene.
More info about this panel Canada.
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