|
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
Typical laboratory features of VWD type 2 M are decreased ristocetin-induced platelet aggregation in the presence of a normal or near normal VWF multimeric pattern on a low-resolution agarose gel, a poor response to desmopressin (DDAVP) of VWF:RCo, and a good response of both VWF:CB and VWF:Ag to DDAVP.
|
19506360 |
2009 |
|
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
The Von Willebrand Factor A1-Collagen III Interaction Is Independent of Conformation and Type 2 Von Willebrand Disease Phenotype.
|
27889474 |
2017 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Defect of heparin binding in plasma and recombinant von Willebrand factor with type 2 von Willebrand disease mutations.
|
11776314 |
2001 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Additional resources include references linked to sequence variation entries, descriptors of each VWD type, genomic and cDNA sequences, nomenclature for VWF and its attributes, Human Genome Variation Society sequence variant nomenclature recommendations, multimer images, and related densitometry traces for type 2 VWD.
|
22102189 |
2011 |
|
von Willebrand Disease, Type 2
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Caused by mutations in the von Willebrand factor (VWF) gene, these defects result in qualitatively abnormal variants of VWF (classi#ed as type 2 VWD) or a decrease in VWF levels (types 1 and 3 VWD).
|
24914743 |
2014 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Eight single amino acid substitutions were found in nine kindreds, four of which were novel candidate VWF mutations and four previously described in association with type 2 VWD.
|
11154147 |
2000 |
|
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
Type 2 von Willebrand disease (VWD) includes a wide range of qualitative abnormalities of von Willebrand factor structure and function resulting in a variable bleeding tendency.
|
25477497 |
2015 |
|
von Willebrand Disease, Type 2
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
As the bleeding tendency is moderate in VWD type 2 and severe in type 3 and because the FVIII:C levels are subnormal in type 2 but very low in type 3 VWD patients, new guidelines using VWF:RCo unit dosing for the acute and prophylactic treatment of bleeding episodes are proposed.
|
19506363 |
2009 |
|
von Willebrand Disease, Type 2
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
There was no association between comorbidities and VWF/FVIII levels or bleeding phenotype in type 2 VWD patients.
|
29767844 |
2018 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The cause of this was subsequently shown to be the Normandy variant of type-2 von Willebrand's disease due to a homozygous Arg854Gln mutation in the von Willebrand factor gene.
|
15113383 |
2004 |
|
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
Type II von Willebrand disease (vWD) is characterized by qualitative abnormality of von Willebrand factor (vWF).
|
8011991 |
1994 |
|
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
Functional analysis of three recombinant A1-VWF domain mutants in comparison to wild type and plasma-derived VWF facilitates subtyping in type 2 von Willebrand disease.
|
21094983 |
2011 |
|
von Willebrand Disease, Type 2
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Levels of VWF mRNA and protein were normal in BOECs from 3 type 2 VWD patients, supporting the dysfunctional VWF model.
|
23355534 |
2013 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers.
|
28696025 |
2017 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
von Willebrand disease (VWD) type 2 is associated with mutations in von Willebrand factor (VWF) that affect its secretion, multimeric pattern, affinity for platelet receptors and clearance of the protein.
|
17087728 |
2007 |
|
von Willebrand Disease, Type 2
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Basic classification of quantitative (type 1 and 3) and qualitative (type 2) VWD variants requires determination of VWF antigenic (VWF:Ag) levels and assaying of VWF ristocetin cofactor (VWF:RCo) activity, determining the capacity of VWF to interact with the platelet GPIb-receptor.
|
24762278 |
2014 |
|
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
Influence of mutations and size of multimers in type II von Willebrand disease upon the function of von Willebrand factor.
|
8204881 |
1994 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
New mass spectrometry strategies are applied to resolve the structural effects of 2B and 2M mutations in VWF to verify the presence of A1 domain structural disorder in multimeric VWF harboring type 2 VWD mutations.
|
31628947 |
2020 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gastrointestinal angiodysplasia in a patient with type 2 von Willebrand's disease and analysis of exon 28 of the von Willebrand factor gene.
|
15571600 |
2004 |
|
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
Patients with VWD type 2 showed a significant increase of VWF:Ag (p = 0.003) and FVIII:C (p = 0.011), and a non-significant increase of VWF:RCo (p = 0.097).
|
31085919 |
2019 |
|
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
The gold standard to differentiate VWD type 2 from type 1 and between diverse type 2 subtypes is the electrophoretic analysis of VWF multimers, a demanding technique that itself is not easily standardized but of crucial relevance for correct classification.
|
15662612 |
2005 |
|
von Willebrand Disease, Type 2
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Similarly, women with type 2 VWD who maintain reduced VWF activity throughout pregnancy require replacement therapy with FVIII/VWF concentrates.
|
31107984 |
2019 |
|
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
Results Based on the three most used VWD parameters (FVIII:C, VWF:Ag and VWF:GPIb-binding activity) and using a cut-off of <0.70 for type 2 VWD revealed sensitivity and specificity of, respectively, 92% and 72.4% for VWF:RCo/VWF:Ag, 84% and 89.7% for VWF:GPIbR/VWF:Ag, and 92% and 85.1% for VWF:GPIbM/VWF:Ag, whereas a lowered cut-off of < 0.60 resulted in reduced sensitivity with increased specificity for all assays.
|
29742318 |
2018 |
|
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
The VWF multimer assay by Sebia is easy to perform and can be successfully implemented in any clinical laboratory for second-stage evaluation of VWD.
|
29453814 |
2018 |
|
von Willebrand Disease, Type 2
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The diagnosis of type 2 von Willebrand disease may be guided by the observation of a disproportionately low level of ristocetin cofactor activity or collagen-binding activity relative to the von Willebrand factor antigen level.
|
11686104 |
2001 |