VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: Purpura, Thrombotic Thrombocytopenic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 Biomarker disease BEFREE Compared with the already established critical role of VWF in VWD and TTP pathophysiology, additional clinical studies have clarified and reinforced the association of elevated plasma levels of VWF with an increased risk of stroke, myocardial infarction, venous thrombosis, and diabetic thrombotic complications. 26771163 2016
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 Biomarker disease BEFREE A speed-dependent increase in VWF-proteolysis was assessed in the LVAD model whereas no proteolysis was observed in TTP-patients. 26791163 2016
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 Biomarker disease BEFREE ADAMTS13 and von Willebrand factor in thrombotic thrombocytopenic purpura. 25587650 2015
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 GeneticVariation disease BEFREE Furthermore, mice expressing the murine VWF/p.S1494C-p.A1534C mutant present with symptoms characteristics of acute TTP such as thrombocytopenia, red cell shredding, accumulation of VWF-rich thrombi in the microvasculature, and advanced TTP symptoms such as renal dysfunction and splenomegaly. 24713928 2014
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 Biomarker disease BEFREE A functional deficiency of ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif), a von-Willebrand factor (VWF) cleaving protease, is central to the pathogenesis of congenital and acquired thrombotic thrombocytopenic purpura (TTP). 23420593 2013
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 GeneticVariation disease BEFREE The moderate activity of ADAMTS-13-P475S for shear-treated VWF is sufficient to prevent thrombotic thrombocytopenic purpura (TTP) onset. 23621748 2013
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 AlteredExpression disease BEFREE The regulation of VWF multimer size is essential in preventing spontaneous microvascular platelet clumping, a central pathophysiologic finding in thrombotic thrombocytopenic purpura (TTP). 23233642 2012
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 Biomarker disease BEFREE This review discusses potentials of using recombinant ADAMTS-13 and VWF-blocking agents as therapeutics for TTP and other acquired ADAMTS-13 deficiencies. 22022775 2012
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 Biomarker disease BEFREE Here we describe a new animal model in which some TTP-like symptoms can be triggered in ADAMTS13 knockout mice by challenge with 2000 units/kg body weight of recombinant human VWF containing ULVWF multimers. 22529289 2012
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 GeneticVariation disease BEFREE Thrombotic thrombocytopenic purpura (TTP) is a disorder with characteristic von Willebrand factor (VWF)-rich microthrombi affecting the arterioles and capillaries of multiple organs. 20058209 2010
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 Biomarker disease BEFREE In the past 10 years the molecular bases of aHUS and TTP have been discovered that mostly lead to uncontrolled activation of the complement system in aHUS and to abnormal von Willebrand factor processing in TTP. 20807612 2010
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 GeneticVariation disease BEFREE Our results demonstrate that residues within Y658-Y665 of the ADAMTS13 spacer domain that are targeted by autoantibodies in TTP directly interact with a complementary exosite (E1660-R1668) within the VWF A2 domain. 20032502 2010
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 Biomarker disease BEFREE Recent studies demonstrate that Stx also induces von Willebrand factor (VWF) secretion by human endothelial cells and causes thrombotic thrombocytopenic purpura, a disease with similarities to D+HUS, in Adamts13(-/-) mice. 20644116 2010
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 Biomarker disease BEFREE In TTP thrombi formation occurs subsequently to the release of multimers of von Willebrand factor (vWF), and in HUS endothelial cell damage is considered the reason for complement and platelet activation leading to thrombus formation. 20539230 2010
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 GeneticVariation disease BEFREE Hereditary thrombotic thrombocytopenic purpura is caused by mutations in a disintegrin and metalloprotease with thrombospondin motifs (ADAMTS13) resulting in defective processing of von Willebrand factor (VWF) that causes intravascular platelet aggregation culminating in thrombocytopenia with shistocytic anemia. 19786614 2009
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 Biomarker disease BEFREE In TTP thrombi formation occurs subsequently to the release of multimers of von Willebrand Factor (vWF) and in HUS (both typical and atypical) to endothelial cell damage (via toxins or complement dysregulation). 19640589 2009
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 GeneticVariation disease BEFREE Recent studies have demonstrated that thrombotic thrombocytopenic purpura (TTP), a serious thrombotic disorder affecting the arterioles and capillaries of multiple organs, is caused by a profound deficiency in the von Willebrand factor cleaving metalloprotease, ADAMTS13. 19180123 2009
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 Biomarker disease BEFREE Together, these findings shed new light on the potential roles played by ADAMTS13 and VWF in TTP, endotoxemia, and normal hemostasis. 18083848 2008
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 GeneticVariation disease BEFREE Thrombotic thrombocytopenic purpura (TTP) is often associated with acquired or congenital deficiency of the von Willebrand factor-cleaving metalloprotease, ADMATS13 (Lammle B et al., J Thromb Haemost 2005;3:1663-1675; Schneppenheim et al., Blood 2003;101:1845-1850). 18756543 2008
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 Biomarker disease BEFREE Severe deficiency of ADAMTS13, a von Willebrand factor (VWF)-cleaving metalloprotease, causes thrombotic thrombocytopenic purpura. 17426255 2007
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 GeneticVariation disease BEFREE Recent studies have found autoimmune inhibitors or genetic mutations of a von Willebrand factor (VWF) cleaving metalloprotease ADAMTS13 in patients with TTP. 16760911 2006
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 Biomarker disease BEFREE Severely deficient activity of the von Willebrand Factor (VWF) cleaving metalloprotease, ADAMTS13, is associated with thrombotic thrombocytopenic purpura (TTP). 16807643 2006
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 Biomarker disease BEFREE Thrombotic thrombocytopenic purpura (TTP) is associated with congenital and acquired deficiency of ADAMTS-13, a metalloprotease that cleaves von Willebrand factor (VWF) and reduces its adhesive activity. 16796708 2006
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 Biomarker disease BEFREE In fact, while the presence in plasma of unusually large VWF multimers due to a congenital or acquired deficiency of a VWF-cleaving metalloprotease has been implicated in the pathogenesis of thrombotic thrombocytopenic purpura (TTP), high plasma levels of VWF have been associated with a slightly increased risk of arterial thrombosis. 16568319 2006
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		0.100 Biomarker disease BEFREE The presence of unusually large multimers of von Willebrand factor (VWF) is thought to be a major pathogenic factor for thrombotic thrombocytopenic purpura (TTP). 15662617 2005