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: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		0.100 CausalMutation phenotype CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		0.100 GeneticVariation phenotype CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
CUI: C0278134
Disease: Absence of sensation
Absence of sensation 		0.010 AlteredExpression phenotype BEFREE At T1, recipient groups showed comparable elevated levels of platelet factor 4 (PF4, indicating platelet activation), prothrombin fragment F1+2 and D-dimer (indicating coagulation activation) and Von Willebrand Factor (indicating endothelial activation) compared to the donors. 30011293 2018
CUI: C0272328
Disease: Acquired factor X deficiency disease
Acquired factor X deficiency disease 		0.010 Biomarker disease BEFREE Immunohistochemical staining of the lymph node, using investigational polyvalent antibodies, demonstrated that both von Willebrand factor and factor V were identifiable in areas of amyloid deposition, providing evidence that these coagulation factors were adsorbed to the amyloid protein, resulting in accelerated clearance from the circulation, previously reported to be the mechanism of cases of acquired factor X deficiency in the setting of amyloidosis. 27676646 2017
CUI: C1096116
Disease: Acquired haemophilia
Acquired haemophilia 		0.010 Biomarker disease BEFREE Acquired haemophilia in association with type III von Willebrand's disease: successful treatment with high purity von Willebrand's factor and recombinant factor VIIa. 8148477 1993
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease 		0.100 GeneticVariation disease BEFREE The acquired von Willebrand syndrome (AvWS), which is associated with left ventricular assist device support, is caused by the loss of the von Willebrand factor (vWF) high molecular weight multimers (HMWMs). 30815698 2019
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease 		0.100 Biomarker disease BEFREE Impaired binding of Von Willebrand factor (VWF) to platelets and to collagen due to acquired Von Willebrand syndrome (AVWS) is associated with support from a ventricular assist device (VAD) and can contribute to bleeding tendencies in patients with VADs. 28082469 2017
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease 		0.100 Biomarker disease BEFREE These six patients appear to have an acquired abnormality of vWF, although they lack the clinical characteristics of acquired von Willebrand disease. 2106777 1990
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease 		0.100 Biomarker disease BEFREE Bleeding occurred without correlation to elevated platelet counts and was associated with reduced large VWF multimers, indicating a diagnosis of acquired von Willebrand syndrome (AVWS), which resolved after initiation of CML treatment. 31617211 2020
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease 		0.100 Biomarker disease BEFREE Therefore, we recruited N = 31 consecutive patients with severe AS and performed a high-resolution Western blot with densitometrical band quantification to characterize the von Willebrand factor (VWF) multimeric structure and reevaluate the AVWS subtype classification. 29202604 2018
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease 		0.100 Biomarker disease BEFREE Twelve patients, whose blood samples were analyzed for aVWS before CPB and immediately after discontinuation of CPB on a routine basis, were eligible for the analysis. von Willebrand factor antigen (VWF:Ag), ristocetin cofactor activity (VWF:RCo), collagen binding activity (VWF:CB), VWF:multimers and factor VIII activity (FVIII:C) were determined. 29908036 2018
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease 		0.100 GeneticVariation disease BEFREE Methods VWD evaluations for patients with LVAD or TAH (2013-14) were retrospectively analyzed and included: VWF activity (ristocetin cofactor, VWF:RCo), VWF antigen (VWF:Ag), ratio of VWF:RCo to VWF:Ag, and quantitative VWF multimeric analysis. 28586149 2017
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease 		0.100 AlteredExpression disease BEFREE The diagnosis of acquired von Willebrand syndrome was made based on decreased ristocetin cofactor activity to von Willebrand factor antigen ratio and/or abnormal multimer analysis. 31246745 2019
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease 		0.100 Biomarker disease BEFREE In this article, we review the evidence showing that VWF is involved in blood vessel formation, discuss the role of VWF high-molecular-weight multimers in regulating angiogenesis, and review the value of studies on BOEC in developing a precision medicine approach to validate novel treatments for angiodysplasia in congenital VWD and acquired von Willebrand syndrome. 29866817 2018
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease 		0.100 Biomarker disease BEFREE The ORs of VWF:CB/VWF:Ag < 0.7 (a marker of acquired von Willebrand syndrome) in the UC and CD groups were 11.9 (95%CI: 4.4-32.4) and 13.3 (95%CI: 4.6-38.1), respectively. 28765701 2017
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease 		0.100 GeneticVariation disease BEFREE Severe forms are associated with acquired von Willebrand syndrome (aVWS) with loss of the largest von Willebrand factor (VWF) multimers. 27481874 2017
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease 		0.100 Biomarker disease BEFREE This ELISA was assessed successively in a LVAD-model, healthy subjects (n=39), acquired TTP-patients (n=4), VWD-patients (including VWD-2A(IIA), n=22; VWD-2B, n=26; VWD-2A(IIE), n=21; and VWD-1C, n=8) and in AVWS-patients (AS, n=9; LVAD, n=9; and MGUS, n=8). 26791163 2016
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease 		0.100 GeneticVariation disease BEFREE Thrombocytopenia, hemolysis, factor XIII deficiency and acquired von Willebrand syndrome (loss of high-molecular-weight von Willebrand factor multimers) were typical findings, and the patients spontaneously recovered after discontinuation of the extracorporeal system. 28187047 2018
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease 		0.100 GeneticVariation disease BEFREE These cause excessive cleavage of VWF multimers resulting in a loss of HMW multimers, known as acquired von Willebrand syndrome (AVWS), a hemostatic disorder similar to VWD type 2A. 30867356 2019
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease 		0.100 Biomarker disease BEFREE This study was performed to determine the onset of AVWS after implantation and the recovery of von Willebrand factor (VWF) parameters after explantation of ECMO in a large cohort of patients. 29650295 2018
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease 		0.100 Biomarker disease BEFREE A receiver operating characteristic curve was used to identify the optimal cutoff of VWFpp/VWF:Ag for discrimination of patients with a modestly increased (most VWD cases) versus those with a markedly increased clearance (AVWS and VWD type 1 Vicenza), and this cutoff was identified at the value of 3.9 (sensitivity: 0.70, specificity: 0.97). 29913537 2019
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease 		0.100 AlteredExpression disease BEFREE Acquired von Willebrand syndrome (AVWS) is a rare, potentially fatal bleeding disorder caused by low activity of von Willebrand factor (VWF) in patients without congenital deficiency. 31029024 2019
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease 		0.100 GeneticVariation disease BEFREE Acquired von Willebrand Syndrome (AVWS) in patients undergoing continuous-flow left ventricular assist device support is due to the loss of von Willebrand factor (vWF) high molecular weight multimers (HMWMs) by shear-mediated mechanisms. 29863626 2019
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease 		0.100 Biomarker disease BEFREE We report a case of severe autoimmune AVWS in a woman with SLE who presented with clinical and laboratory features of type 3 VWD (undetectable VWF antigen, ristocetin cofactor activity, and VWF multimers). 28512017 2017
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease 		0.100 AlteredExpression disease BEFREE Seventy-six (84.4%) patients had HeartWare (Medtronic, Mounds View, MN) and 14 (15.5%) had Heartmate II (Thoratec, Pleasanton, CA) implanted. vWF level, ristocetin cofactor level, and platelet count were measured before and after implantation to determine the presence of acquired von Willebrand Syndrome; aortic valve movement and postoperative RHF were evaluated to compare the difference in bleeding and nonbleeding patient groups. 28957820 2019