VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: von Willebrand Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 GeneticVariation disease BEFREE von Willebrand disease (VWD) is the most common inherited bleeding disorder caused by defective or deficient von Willebrand factor (VWF). 31793247 2020
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 GeneticVariation disease BEFREE Limited trypsinolysis mass spectrometry (LTMS) and hydrogen-deuterium exchange mass spectrometry (HXMS) are applied to wild-type and VWD variants of the single A1, A2, and A3 domains, an A1A2A3 tridomain fragment of VWF, plasmin-cleaved dimers of VWF, multimeric recombinant VWF, and normal VWF plasma concentrates. 31628947 2020
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 GeneticVariation disease BEFREE Patients with von Willebrand disease (VWD) often require treatment with supplemental von Willebrand factor (VWF) prior to procedures or to treat bleeding. 31496264 2020
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 Biomarker disease BEFREE von Willebrand disease (VWD) is an inherited bleeding disorder caused by a quantitative or qualitative dysfunction of von Willebrand factor. 31769905 2020
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 AlteredExpression disease BEFREE According to the current concept, we reclassified VWD and low VWF by VWF levels ≤30 and 30 to 50 IU/dL, respectively. 31359769 2020
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 AlteredExpression disease BEFREE Evidence-based guidelines recommend that von Willebrand factor (VWF) levels be obtained in the third trimester of pregnancy to facilitate peri-partum planning for women with von Willebrand disease (VWD). 31808272 2020
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 Biomarker disease BEFREE Patients with VWD undergoing surgery in Academic Haemophilia Treatment Centers in the Netherlands between 2000 and 2018 treated with a FVIII/VWF plasma-derived concentrate (Haemate® P/Humate P®) were included in this study. 31557387 2020
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 GeneticVariation disease BEFREE Replacement therapy in patients with VWD shall be individualised considering VWD type, history and risk of bleeding and risk of thrombosis, as well as indication and the individually variable VWF and FVIII increase. 31364093 2019
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 Biomarker disease BEFREE We modified the routine ROTEM assay by adding a preincubation with ristocetin and commercially available plasma-derived von Willebrand factor to identify clinically relevant von Willebrand disease (VWD). 30630422 2019
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 Biomarker disease BEFREE This review describes personalization of treatment selection for desmopressin (DDAVP), VWF replacement concentrates, including the newly available recombinant VWF (rVWF) and prophylaxis as a treatment approach in VWD. 31466808 2019
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 Biomarker disease BEFREE However, because of the significant technical challenges associated with accurate assessment of VWF glycan composition, the importance of carbohydrates in human VWD pathogenesis remains largely unexplored. 30770394 2019
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 Biomarker disease BEFREE Hemostatic supplementation is more complex in VWD than in other bleeding disorders owing to the combined but variable deficiency of both plasma VWF and factor VIII (FVIII) levels. 31808837 2019
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 Biomarker disease BEFREE The Course of von Willebrand Factor and Factor VIII Activity in Patients with von Willebrand Disease during Pregnancy. 31085919 2019
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 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: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 Biomarker disease BEFREE The diagnostic algorithm for VWD is complex, but advances continue to be made in improving VWF functional assays and diagnostic pathways. 31808831 2019
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 GeneticVariation disease BEFREE Quantitative and qualitative variations in VWF sialylation have been reported in patients with von Willebrand Disease, as well as in a number of other physiological and pathological states. 31055873 2019
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 Biomarker disease BEFREE More recently, the treatment of VWD has undergone a slow yet significant change from plasma-derived VWF/FVIII concentrates with VWF:ristocetin cofactor (RCo)/FVIII ratios ≤1, to those with VWF:RCo/FVIII ratios >10, to a recombinant VWF. 31229334 2019
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 Biomarker disease BEFREE The natural rise in von Willebrand factor (VWF) during pregnancy is discussed, but the fact that women with VWD do not achieve the same VWF levels as women without VWD is emphasized and the implications are presented. 31808870 2019
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 Biomarker disease BEFREE Partial quantitative deficiency of plasma von Willebrand factor (VWF) is responsible for the majority of cases of von Willebrand disease (VWD), the most common inherited human bleeding disorder. 30578256 2019
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 Biomarker disease BEFREE This will definitely be beneficial in acute situations such as evaluation of and management of acute bleeding in patients with acquired deficiencies of VWF and may play an important role in the surgical management of patients with VWD. 30945453 2019
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 GeneticVariation disease BEFREE Characterization of VWF gene conversions causing von Willebrand disease. 30488424 2019
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 AlteredExpression disease BEFREE The management of von Willebrand disease (VWD) is based upon the dual correction of the primary hemostasis defect, due to the inherited deficiency of von Willebrand factor (VWF), and of the secondary defect of factor VIII coagulant activity (FVIII:C), due to the loss of binding and stabilization by VWF of this intrinsic coagulation factor in flowing blood. 31808884 2019
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 AlteredExpression disease BEFREE In two-hundred adolescents, a bleeding disorder was diagnosed in 33%(n=67): Low von Willebrand factor levels in 16%; von Willebrand disease in 11% and qualitative platelet dysfunction in 4.5%. 31624107 2019
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 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: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 Biomarker disease BEFREE Recombinant Von Willebrand factor concentrate in 2A Von Willebrand disease: comparison to plasma-derived Von Willebrand factor concentrate therapy. 31090598 2019