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 The corresponding mutant recombinant protein, rvWF(G561S), formed normal multimers and exhibited the same functional defect as the patient's plasma vWF, confirming that this mutation causes von Willebrand disease type B. 1409710 1992
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 GeneticVariation disease BEFREE An Arg760Cys mutation in the consensus sequence of the von Willebrand factor propeptide cleavage site is responsible for a new von Willebrand disease variant. 12393698 2003
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 AlteredExpression disease BEFREE The influence of several genetic and acquired conditions on the level of von Willebrand factor is however, widely appreciated and represents the major obstacle in correctly identifying von Willebrand disease as the cause of a bleeding diathesis in several families. 11686102 2001
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 GeneticVariation disease BEFREE We observed that decreased binding to collagen 4 was associated with select VWF A1 domain sequence variations in type 1 and type 2M VWD. 25662333 2015
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 Biomarker disease BEFREE A 30-question survey constituted the input to discuss (i) optimisation of the diagnostic workflow for vWD, (ii) the characteristics of patients who may benefit from secondary long-term prophylaxis (in particular with the purified von Willebrand factor concentrate with a low content of factor VIII), (iii) the key elements to consider when selecting a concentrate and (iv) the pre-operative and post-operative management of vWD patients. 29313798 2018
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 AlteredExpression disease BEFREE Liver-expressed vWF was fully multimerized and able to restore proper platelet plug formation in severe vWD. 18556568 2008
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 Biomarker disease BEFREE While von Willebrand disease has long been known to result from qualitative and quantitative deficiencies of VWF, it is recently that contribution of elevated levels of VWF to various pathological conditions including thrombosis, inflammation, angiogenesis, and cancer metastasis has been appreciated. 30365187 2018
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 Biomarker disease BEFREE The phenotype of von Willebrand disease is determined by the properties of the dysfunctional subunits which become incorporated into heteropolymeric forms of vWF. 8767102 1996
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 Biomarker disease BEFREE The various forms of canine von Willebrand's disease can be categorized into one of three major types: in type I canine von Willebrand's disease, all sizes of von Willebrand factor multimers can be detected in the plasma; in type II canine von Willebrand's disease, only the smaller von Willebrand factor multimers are found in the plasma (larger multimers are absent); and in type III canine von Willebrand's disease, von Willebrand factor is completely absent from the plasma or present in only trace amounts. 3282380 1988
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 GeneticVariation disease BEFREE Currently, studies investigating the health-related quality of life (HR-QoL) in VWD using standardized tools are limited, particularly among patients with mild decreases in von Willebrand factor or activity. 27611464 2017
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 GeneticVariation disease BEFREE Type 2b VWD is a less common subtype caused by a gain-of-function mutation in von Willebrand factor (VWF) that leads to the formation of large, ineffective VWF-platelet multimers in circulation. 27468167 2017
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 GeneticVariation disease BEFREE In conclusion, VWD phenotype can be recapitulated in BOECs, and thus BOECs provide a feasible bona fide cell model to study the pathogenic effects of VWF mutations. 23426949 2013
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 GeneticVariation disease BEFREE The arginine-552-cysteine (R1315C) mutation within the A1 loop of von Willebrand factor induces an abnormal folding with a loss of function resulting in type 2A-like phenotype of von Willebrand disease: study of 10 patients and mutated recombinant von Willebrand factor. 11159522 2001
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 GeneticVariation disease BEFREE However, vWF(R53W) exhibited the same defect in FVIII binding as did plasma vWF from patients with vWD Normandy, confirming that this mutation is responsible for the vWD Normandy phenotype. 1732004 1992
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 GeneticVariation disease BEFREE A novel type 2A (Group II) von Willebrand disease mutation (L1503Q) associated with loss of the highest molecular weight von Willebrand factor multimers. 15219197 2004
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 AlteredExpression disease BEFREE High and long-term von Willebrand factor expression after Sleeping Beauty transposon-mediated gene therapy in a mouse model of severe von Willebrand disease. 29288565 2018
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 Biomarker disease BEFREE von Willebrand disease (VWD) type 3 is a rare disorder characterized by absent or <0.1 UmL(-1) of ristocetin cofactor (VWF:RCo), and a very low level of factor VIII (FVIII:C). 19563498 2009
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 Biomarker disease BEFREE von Willebrand disease (VWD) type 1 is difficult to diagnose because of bleeding variability and low heritability of von Willebrand factor (VWF) levels. 15226188 2004
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 AlteredExpression disease BEFREE Knowing the VWF:RCo activity is essential for identifying, subtyping and monitoring VWD, but the assay is poorly standardized and many protocols do not fulfil the clinical need in all situations. 24762278 2014
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 GeneticVariation disease BEFREE The cloning of the gene encoding VWF has allowed numerous breakthroughs, and our knowledge of the epidemiology, genetics and molecular basis of VWD has been rapidly expanding since then. 23020315 2012
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 GeneticVariation disease BEFREE This third meeting held over 3 days covered the structure and function of von Willebrand factor (VWF); type 1 VWD, the most common form of the disease; a lifespan of pharmacokinetics in VWD; detecting inhibitors in VWD patients; and special challenges in understanding and treating the female VWD patient. 23383607 2013
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 Biomarker disease BEFREE VWF appears to play a role in tumor biology, but it is unclear whether cancer behavior differs in Von Willebrand Disease. 28587726 2018
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.200 GeneticVariation disease BEFREE Here, we have studied a large VWD type3 pedigree with a premature termination codon (PTC) causing insertion mutation (c.7674-7675insC) in VWF exon 45. 22503077 2012