VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: Von Willebrand disease, platelet type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		0.100 Biomarker disease BEFREE Anaphylactic reaction to VWF preparations may be related to PT-VWD and the development of HLA antibodies is not uncommon. 27819553 2017
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		0.100 Biomarker disease BEFREE We herein describe a patient with severe bleeding symptoms, macrothrombocytopenia, mild spontaneous platelet aggregation, positive RIPA at 0.3 and 0.4 mg/mL, von Willebrand factor ristocetin cofactor (VWF:RCo) to antigen (VWF:Ag) < 0.2, normal VWF propeptide/VWF:Ag ratio, and RIPA mixing tests and cryoprecipitate challenge positive for PT-VWD. 24474090 2014
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		0.100 Biomarker disease BEFREE Examination of this theory by surveying all the available GPIbα structures showed that a distinct conformation predominates for the R-loop when GPIbα is not bound to VWF-A1 and this provides the framework of a new hypothesis for the molecular basis of PT-VWD. 23934752 2013
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		0.100 Biomarker disease BEFREE In this report we identify a novel Asp235Tyrmutation in the GP1BA gene of two Iranian patients showing the PT-VWD phenotype who were originally misdiagnosed as type 2B VWD. 23014764 2012
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		0.100 Biomarker disease BEFREE Treatment is based on making a correct diagnosis of PT-VWD where platelet concentrates instead of VWF/factor VIII preparations should be administered. 22102188 2011
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		0.100 Biomarker disease BEFREE This is the first large international study to investigate the occurrence of PT-VWD and type 2B VWD worldwide and to evaluate DNA analysis as a diagnostic tool for a large cohort of patients. 21301777 2011
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		0.100 GeneticVariation disease BEFREE Platelet-type von Willebrand disease (PT-VWD) is a rare autosomal dominant bleeding disorder which is due to a mutation in the gene encoding for platelet glycoprotein Ibalpha (GPIbalpha) resulting in enhanced affinity for von Willebrand factor (VWF). 19951970 2010
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		0.100 GeneticVariation disease BEFREE Visualizing the von Willebrand factor/glycoprotein Ib-IX axis with a platelet-type von Willebrand disease mutation. 19808696 2009
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		0.100 Biomarker disease BEFREE A limited number of mutations within the glycoprotein Ib-IX complex have been described that permit a structurally altered receptor to interact with soluble von Willebrand factor, and this is the molecular basis of platelet-type von Willebrand disease. 18187573 2008
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		0.100 Biomarker disease BEFREE As PT-VWD shares most of the clinical and laboratory features of subtype 2B VWD, the differential diagnosis between these two inherited bleeding disorders requires either platelet-mixing or molecular genetic studies. 18333841 2008
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		0.100 Biomarker disease BEFREE This article provides a review of PT-VWD-related literature and an overview of a phenotypic laboratory test process that should enable the effective identification of PT-VWD and its discrimination from 2B-VWD. 18393148 2008
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		0.100 GeneticVariation disease BEFREE Platelet-type von Willebrand disease (PT-VWD, or pseudo-VWD) and type 2B VWD share a common bleeding phenotype with different etiologies. 18175283 2007
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		0.100 GeneticVariation disease BEFREE Fourteen individuals from five families with a historical diagnosis of type 2B VWD but with no mutation in the von Willebrand factor gene were re-investigated for the possibility of p-VWD, using platelet aggregation in the presence of cryoprecipitate. p-VWD was confirmed by targeted DNA sequencing of the glycoprotein Ibalpha gene, identifying a heterozygous Glycine 233 Valine substitution. 16704444 2006
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		0.100 GeneticVariation disease BEFREE The present study aimed to determine whether G233S of GPIbalpha, a new mutation observed in plt-VWD patients, causes the plt-VWD phenotype and to examine whether conversions to other residues at this position affect VWF binding. 14521605 2003
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		0.100 GeneticVariation disease BEFREE Alterations in the intrinsic properties of the GPIbalpha-VWF tether bond define the kinetics of the platelet-type von Willebrand disease mutation, Gly233Val. 12637314 2003
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		0.100 Biomarker disease BEFREE Pseudo (or platelet-type)- von Willebrand disease (vWD) is a very rare autosomal dominant bleeding disorder caused by an abnormal hyper-responsiveness of the platelet membrane glycoprotein (GP) Ib/IX complex, the receptor for von Willebrand factor. 9282797 1997
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		0.100 Biomarker disease BEFREE Platelet-type von Willebrand disease (vWD) is a congenital bleeding disorder characterized by heightened ristocetin-induced platelet aggregation caused by abnormally high affinity between the platelet membrane glycoprotein (GP) Ib/IX complex and von Willebrand factor (vWF). 9226170 1997
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		0.100 Biomarker disease BEFREE The amphipathic surfaces in the 228-238 region of the Val 233-containing GPIb alpha protein may associate strongly with complementary surfaces during vWF binding to the GPIb/IX receptor complex and may help explain heightened association of vWF with this receptor in PT-vWD. 1911886 1991
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		0.100 Biomarker disease BEFREE Absence in the normal population, tight linkage with phenotypic expression of disease, and absence of any additional abnormality of GP Ib alpha in these patients identify the glycine-to-valine substitution as a point mutation underlying functional abnormality of the vWF receptor in PT-vWD. 2052556 1991
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		0.100 Biomarker disease BEFREE The defect in the patients was localized to their vWF, which had an enhanced capacity for aggregating washed normal platelets in the presence of low concentrations of ristocetin and for aggregating pseudo-vWD platelets (in the absence of ristocetin). 3487353 1986