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: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M
0.500 GeneticVariation disease BEFREE Identification of a missense mutation (p.Leu1733Pro) in the A3 domain of von Willebrand factor in a family with type 2M von Willebrand disease. 31605304 2020
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M
0.500 GeneticVariation disease BEFREE Objectives Through the Zimmerman Program for the Molecular and Clinical Biology for VWD, five VWF sequence variations were studied in subjects diagnosed with type 2M VWD. 28544236 2017
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M
0.500 Biomarker disease BEFREE Both type 2B and type 2M von Willebrand disease (VWD) result in bleeding disorders with the diathesis of increased and decreased binding affinity between GPIbα and VWF, respectively. 26345337 2015
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M
0.500 GeneticVariation disease BEFREE Four novel VWF A1 domain mutations were found in individuals with type 2M VWD: S1358N, S1387I, S1394F and Q1402P. 23496210 2013
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M
0.500 Biomarker disease BEFREE Both type 2B and type 2M von Willebrand disease result in bleeding disorders; however, whereas type 2B has increased binding affinity between platelet glycoprotein Ibα and von Willebrand factor (vWF), type 2M has decreased binding affinity between these two molecules. 21244826 2011
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M
0.500 GeneticVariation disease BEFREE We report here on the spurious diagnosis of VWD in a patient with a sequence variation in the ristocetin-binding domain of VWF. 19694940 2009
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M
0.500 GeneticVariation disease BEFREE Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene. 19506361 2009
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M
0.500 GeneticVariation disease BEFREE The aim of this study was to characterize the adequacy and longevity of biological response to desmopressin (DDAVP) in a large Amish kindred of Type 2M von Willebrand disease (VWD) possessing C-to-T transition at nucleotide 4120 in exon 28 of A1 domain of von Willebrand factor (VWF) gene. 18312368 2008
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M
0.500 Biomarker disease BEFREE In order to better characterize the genotype-phenotype correlation in type 2M von Willebrand disease (VWD), we sequenced the coding region for the mature subunit of the von Willebrand factor (VWF) gene (exons 18-52, including exon/intron boundaries) in 16 index cases originally submitted to the Canadian Type 1 VWD Study as type 1 VWD, but reclassified as type 2M VWD on the basis of phenotype (excessive mucocutaneous bleeding and von Willebrand factor: antigen (VWF:Ag) and/or von Willebrand factor: ristocetin cofactor (VWF:RCo) between 0.05 and 0.50 IU mL(-1) on at least two occasions and RCo/Ag ratio < 0.6 and no loss of high molecular weight multimers). 17596142 2007
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M
0.500 Biomarker disease BEFREE To evaluate biological responsiveness to desmopressin, the FVIII/VWF changes during pregnancy and the clinical outcome in pregnancies and deliveries of six primipara with type 2M VWD Vicenza prospectively followed. 16420565 2006
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M
0.500 GeneticVariation disease BEFREE The interaction of von Willebrand factor-A1 domain with collagen: mutation G1324S (type 2M von Willebrand disease) impairs the conformational change in A1 domain induced by collagen. 16420575 2006
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M
0.500 GeneticVariation disease BEFREE Thus, the new S1285F mutation within the A1 loop was responsible for the type 2M VWD observed in these patients, and was involved in the binding of VWF to botrocetin and to platelet glycoprotein Ib (GPIb). 12588351 2003
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M
0.500 GeneticVariation disease BEFREE Identification of a new type 2M von Willebrand disease mutation also at position 1324 of von Willebrand factor. 12008946 2002
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M
0.500 GeneticVariation disease BEFREE Von Willebrand disease type 2M "Vicenza" (VWD 2M V) is characterised by autosomal dominant inheritance, low von Willebrand factor (VWF) and the presence of "supranormal" multimers in plasma. 10669167 2000
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M
0.500 GeneticVariation disease BEFREE Type 2M von Willebrand disease: F606I and I662F mutations in the glycoprotein Ib binding domain selectively impair ristocetin- but not botrocetin-mediated binding of von Willebrand factor to platelets. 9473222 1998
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M
0.500 AlteredExpression disease BEFREE The patients with vWd type 2M (Vicenza) could be allocated into two subgroups: type "platelet normal" with normal vWf properties in platelets and type "platelet low" with reduced vWf: Ag levels in platelets. 9253800 1997
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M
0.500 CausalMutation disease CLINVAR
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M
0.500 Biomarker disease CTD_human