VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: von Willebrand Disease, Type 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 GeneticVariation disease BEFREE We report the case of a 6-year-old girl with type 3 von Willebrand disease in whom inhibitors were sought due to ineffective haemostasis together with lower than expected von Willebrand factor (VWF) recoveries after a surgical procedure. 31714257 2020
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 GeneticVariation disease BEFREE In type 3 von Willebrand disease (VWD3), the most severe form with absent von Willebrand factor (VWF), the bleeding phenotype is variable. 30836803 2020
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 Biomarker disease BEFREE Addition of von Willebrand factor to the ristocetin assay of a VWD type 3 patient restored the reaction of the whole blood probe to match the response of a healthy person. 30630422 2019
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 Biomarker disease BEFREE The diagnosis of VWD type 3 was confirmed by VWF antigens less than 5 IU/dL. 31532876 2019
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 Biomarker disease BEFREE Objectives To develop an integrative Sleeping Beauty (SB) transposon-mediated VWF gene transfer approach in a preclinical mouse model of severe VWD. 29288565 2018
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 Biomarker disease BEFREE This evidence is supported by studies on blood outgrowth EC (BOEC) from patients with lack of VWF synthesis (type 3 von Willebrand disease [VWD]). 29866817 2018
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 GeneticVariation disease BEFREE The natural course of the bleeding symptoms of the patient with type-3 vWD was attenuated, with no detectable hemostatic levels of von Willebrand factor antigen (vWF:Ag) after transplantation. 29931985 2018
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 AlteredExpression disease BEFREE VEGF levels were negatively associated with VWF levels as type 3 VWD patients had the highest VEGF levels. 29304535 2018
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 AlteredExpression disease BEFREE Diagnosis of type 3 VWD was based on undetectable VWF antigen levels in the plasma. 29984440 2018
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 Biomarker disease BEFREE The development of inhibitory alloantibodies against VWF is a rare but often severe complication encountered during the treatment of type 3 VWD, which is associated with a lack of hemostatic response to infused VWF concentrates and more rarely with allergic, even anaphylactic, reactions. 29165738 2018
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 AlteredExpression disease BEFREE Moreover, increased clearance also contributes to reduced VWF levels in many patients with type 2 and type 3 VWD. 30378120 2018
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 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: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 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: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 AlteredExpression disease BEFREE In conclusion, VWFpp identified severe type 1 VWD with very low VWF levels in patients who had previously been classified as type 3 VWD. 25673639 2015
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 GeneticVariation disease BEFREE Four cases had VWF:Ag < 3 IU dL(-1) and VWF mutations consistent with Type 3 VWD. 25780857 2015
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 AlteredExpression disease BEFREE Bleeding symptoms in general are more severe with decreasing VWF levels and more severe in type 2 and type 3 VWD compared with type 1 VWD. 25696906 2014
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 GeneticVariation disease BEFREE The development of alloantibodies against von Willebrand factor (VWF) represents a rare but serious complication of treatment of von Willebrand disease (VWD), occurring in ~5% to 10% of type 3 VWD patients. 23297130 2013
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 GeneticVariation disease BEFREE The molecular pathology of type 3 VWD has been similarly well characterized, with an array of different mutation types producing either a null phenotype or the production of VWF that is not secreted. 24065240 2013
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 Biomarker disease BEFREE Severe type 3 VWD (VWD3) is characterised by complete absence or presence of trace amounts of non-functional von Willebrand factor (VWF). 23407766 2013
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 GeneticVariation disease BEFREE The molecular pathology of type 3 VWD has been similarly well characterized, with an array of different mutation types producing either a null phenotype or the production of VWF that is not secreted. 24319188 2013
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 GeneticVariation disease BEFREE In five IC (15%), two mutant VWF alleles were not identified to explain the type 3 VWD phenotype. 23311757 2013
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 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
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 Biomarker disease BEFREE Shear-induced GPVI shedding also occurred in platelet-rich plasma or washed platelets isolated from a von Willebrand disease type 3 patient with no detectable VWF, implying that shear-induced activation of platelet metalloproteinases can occur in the absence of GPVI and GPIbα ligands. 22431567 2012
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 GeneticVariation disease BEFREE This study extends our previous finding that most of the mutations that we identified in VWD3 patients arise independently and are scattered throughout the entire VWF gene. 22674667 2012
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		0.800 Biomarker disease BEFREE Although the incidence of VWD3 is rare, the condition is of considerable interest because of its severe clinical presentation, the need for replacement therapy and the risk of alloantibodies following infusion of plasma-derived VWF concentrates. 22722677 2012