VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation disease BEFREE New mass spectrometry strategies are applied to resolve the structural effects of 2B and 2M mutations in VWF to verify the presence of A1 domain structural disorder in multimeric VWF harboring type 2 VWD mutations. 31628947 2020
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 AlteredExpression disease BEFREE Type 2 VWD was diagnosed if VWF activity to antigen ratio was ≤0.6. 31359769 2020
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 Biomarker disease BEFREE Patients with VWD type 2 showed a significant increase of VWF:Ag (p = 0.003) and FVIII:C (p = 0.011), and a non-significant increase of VWF:RCo (p = 0.097). 31085919 2019
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 AlteredExpression disease BEFREE Similarly, women with type 2 VWD who maintain reduced VWF activity throughout pregnancy require replacement therapy with FVIII/VWF concentrates. 31107984 2019
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation disease BEFREE Genetic variants of VWF gene in type 2 von Willebrand disease. 30817071 2019
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 CausalMutation disease CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 AlteredExpression disease BEFREE There was no association between comorbidities and VWF/FVIII levels or bleeding phenotype in type 2 VWD patients. 29767844 2018
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 Biomarker disease BEFREE Results Based on the three most used VWD parameters (FVIII:C, VWF:Ag and VWF:GPIb-binding activity) and using a cut-off of <0.70 for type 2 VWD revealed sensitivity and specificity of, respectively, 92% and 72.4% for VWF:RCo/VWF:Ag, 84% and 89.7% for VWF:GPIbR/VWF:Ag, and 92% and 85.1% for VWF:GPIbM/VWF:Ag, whereas a lowered cut-off of < 0.60 resulted in reduced sensitivity with increased specificity for all assays. 29742318 2018
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 Biomarker disease BEFREE The VWF multimer assay by Sebia is easy to perform and can be successfully implemented in any clinical laboratory for second-stage evaluation of VWD. 29453814 2018
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 Biomarker disease BEFREE VWD is reportedly the most common inherited bleeding disorder and can be classified into quantitative and qualitative defects, with type 1 and 3 VWD respectively identifying partial and total quantitative deficiency of VWF, and type 2 VWD identifying qualitative defects of VWF. 30306084 2018
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 Biomarker disease GENOMICS_ENGLAND Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients. 28971901 2017
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 Biomarker disease BEFREE The Von Willebrand Factor A1-Collagen III Interaction Is Independent of Conformation and Type 2 Von Willebrand Disease Phenotype. 27889474 2017
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation disease BEFREE A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers. 28696025 2017
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 Biomarker disease MGD A genetically-engineered von Willebrand disease type 2B mouse model displays defects in hemostasis and inflammation. 27212476 2016
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 Biomarker disease BEFREE We developed an enzyme-linked immunosorbent assay (ELISA) to measure the various activities of VWF on a single plate and evaluated 160 patient samples enrolled in the Zimmerman Program for the Molecular and Clinical Biology of von Willebrand Disease with type 2 VWD. 26917779 2016
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 Biomarker disease BEFREE The aim of the study was to assess whether 2M VWD, defining qualitative defects not associated with loss of high molecular weight (HMW) VWF, is often misidentified, given highly variable reported frequency ranging from 0 to ~60% of all type 2 VWD. 27029718 2016
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 Biomarker disease BEFREE Type 2 von Willebrand disease (VWD) includes a wide range of qualitative abnormalities of von Willebrand factor structure and function resulting in a variable bleeding tendency. 25477497 2015
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation disease BEFREE We evaluated a 24-member pedigree with VWD type 2 caused by a T>G mutation at position 3911 that predicts a methionine to arginine (M1304R) change in the platelet-binding A1 domain of von Willebrand factor (VWF). 26019279 2015
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 Biomarker disease BEFREE Diagnosis of von Willebrand disease (VWD) type 2 usually relies on the discrepancy between the von Willebrand factor (VWF) ristocetin cofactor activity (VWF:RCo) and VWF antigen (VWF:Ag). 26206100 2015
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 AlteredExpression disease BEFREE Caused by mutations in the von Willebrand factor (VWF) gene, these defects result in qualitatively abnormal variants of VWF (classi#ed as type 2 VWD) or a decrease in VWF levels (types 1 and 3 VWD). 24914743 2014
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 AlteredExpression disease BEFREE Basic classification of quantitative (type 1 and 3) and qualitative (type 2) VWD variants requires determination of VWF antigenic (VWF:Ag) levels and assaying of VWF ristocetin cofactor (VWF:RCo) activity, determining the capacity of VWF to interact with the platelet GPIb-receptor. 24762278 2014
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation disease BEFREE Sequence variations in type 2 VWD are located in the region corresponding to the defect in the VWF protein found in each type 2 variant. 25696906 2014
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 AlteredExpression disease BEFREE Levels of VWF mRNA and protein were normal in BOECs from 3 type 2 VWD patients, supporting the dysfunctional VWF model. 23355534 2013
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation disease BEFREE Exon 28 of the VWF gene is known to be a hot spot for type 2 VWD mutations. 23179108 2013
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation disease BEFREE VWD is classified into quantitative deficiencies of VWF (type 1 and type 3 VWD) and qualitative variants (type 2 VWD), because of a dysfunctional VWF. 23852183 2013