VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: von Willebrand Disease, Type 2N ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		0.500 Biomarker disease BEFREE Type 2N von Willebrand disease (VWD) is characterized by impaired factor VIII (FVIII) binding to von Willebrand factor (VWF). 31741138 2020
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		0.500 GeneticVariation disease BEFREE In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N). 31028847 2019
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		0.500 Biomarker disease BEFREE Accordingly, we always recommend VWF:FVIIIB assay in the diagnostic workup of VWD. 29115006 2018
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		0.500 Biomarker disease BEFREE The impaired capacity of von Willebrand factor to carry factor VIII is identified as type 2N von Willebrand's disease. 22875612 2013
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		0.500 Biomarker disease BEFREE We evaluated the first commercial ELISA (Asserachrom® VWF:FVIIIB; Stago) comparated to a reference method in a multicentric study involving 205 subjects: 60 healthy volunteers, 37 haemophiliacs A, 17 haemophilia A carriers, 37 patients with type 2N VWD, 9 heterozygous carriers for a 2N mutation and 45 patients with miscellaneous other types of VWD (all previously characterized). 21371195 2011
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		0.500 GeneticVariation disease BEFREE Our aim was to assess the utility of the in-house VWF-FVIII binding assay in the investigation of patients with suspected VWD2N. 19298374 2009
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		0.500 Biomarker disease BEFREE The defective FVIII carrier function of von Willebrand factor (VWF) identifies type 2N von Willebrand disease (VWD), a variant with a pattern resembling hemophilia A. 17456630 2007
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		0.500 GeneticVariation disease BEFREE We conclude that R763G is a new type 2N VWD mutation located in the VWF propeptide which alters the proteolytic processing of VWF and consequently its binding to FVIII. 16953269 2006
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		0.500 Biomarker disease BEFREE Type 2N von Willebrand disease (VWD) is characterized by a markedly decreased affinity of von Willebrand factor (VWF) for factor VIII (FVIII). 15461624 2004
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		0.500 Biomarker disease BEFREE In type 2N von Willebrand disease (VWD), von Willebrand factor (VWF) is characterized by a markedly decreased affinity for Factor VIII (FVIII), and the mutations responsible are essentially located in the D' domain of VWF. 12588349 2003
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		0.500 AlteredExpression disease BEFREE Most of them induce a classical type 2N von Willebrand disease phenotype with factor VIII deficiency but a normal level and multimeric pattern of von Willebrand factor. 11686103 2001
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		0.500 GeneticVariation disease BEFREE The majority of patients with type 2N von Willebrand disease (VWD type 2N) have mutations in the region of the von Willebrand factor (VWF) gene encoding the factor VIII binding domain of VWF. 9684781 1998
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		0.500 Biomarker disease BEFREE In this report, we describe the case of a vWD patient who has an abnormal vWF multimers distribution associated with a markedly decreased vWF ability to bind FVIII. 9845532 1998
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		0.500 GeneticVariation disease BEFREE Type 2N von Willebrand disease due to Arg91Gln substitution and a cytosine deletion in exon 18 of the von Willebrand factor gene. 9792286 1998
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		0.500 AlteredExpression disease BEFREE Changes in factor VIII binding capacity of von Willebrand factor and factor VIII coagulant activity in two patients with type 2N von Willebrand disease after hemostatic treatment and during pregnancy. 8854570 1996
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		0.500 Biomarker disease BEFREE A screening program for the detection of patients with von Willebrand disease type 2N (VWD 2N) was carried out in 177 unrelated patients previously diagnosed with haemophilia A and in 199 unrelated patients with VWD type 1 in comparison. 8903002 1996
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		0.500 GeneticVariation disease BEFREE Type 2N von Willebrand disease (vWD) is caused by a mutation in the vWF gene that results in vWF with a normal multimeric pattern, but with reduced binding to FVIII. 8822593 1996
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		0.500 CausalMutation disease CLINVAR
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		0.500 Biomarker disease CTD_human