von Willebrand disease type 2M
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of a missense mutation (p.Leu1733Pro) in the A3 domain of von Willebrand factor in a family with type 2M von Willebrand disease.
|
31605304 |
2020 |
von Willebrand disease type 2M
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Objectives Through the Zimmerman Program for the Molecular and Clinical Biology for VWD, five VWF sequence variations were studied in subjects diagnosed with type 2M VWD.
|
28544236 |
2017 |
von Willebrand disease type 2M
|
0.500 |
Biomarker
|
disease |
BEFREE |
Both type 2B and type 2M von Willebrand disease (VWD) result in bleeding disorders with the diathesis of increased and decreased binding affinity between GPIbα and VWF, respectively.
|
26345337 |
2015 |
von Willebrand disease type 2M
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Four novel VWF A1 domain mutations were found in individuals with type 2M VWD: S1358N, S1387I, S1394F and Q1402P.
|
23496210 |
2013 |
von Willebrand disease type 2M
|
0.500 |
Biomarker
|
disease |
BEFREE |
Both type 2B and type 2M von Willebrand disease result in bleeding disorders; however, whereas type 2B has increased binding affinity between platelet glycoprotein Ibα and von Willebrand factor (vWF), type 2M has decreased binding affinity between these two molecules.
|
21244826 |
2011 |
von Willebrand disease type 2M
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report here on the spurious diagnosis of VWD in a patient with a sequence variation in the ristocetin-binding domain of VWF.
|
19694940 |
2009 |
von Willebrand disease type 2M
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.
|
19506361 |
2009 |
von Willebrand disease type 2M
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to characterize the adequacy and longevity of biological response to desmopressin (DDAVP) in a large Amish kindred of Type 2M von Willebrand disease (VWD) possessing C-to-T transition at nucleotide 4120 in exon 28 of A1 domain of von Willebrand factor (VWF) gene.
|
18312368 |
2008 |
von Willebrand disease type 2M
|
0.500 |
Biomarker
|
disease |
BEFREE |
In order to better characterize the genotype-phenotype correlation in type 2M von Willebrand disease (VWD), we sequenced the coding region for the mature subunit of the von Willebrand factor (VWF) gene (exons 18-52, including exon/intron boundaries) in 16 index cases originally submitted to the Canadian Type 1 VWD Study as type 1 VWD, but reclassified as type 2M VWD on the basis of phenotype (excessive mucocutaneous bleeding and von Willebrand factor: antigen (VWF:Ag) and/or von Willebrand factor: ristocetin cofactor (VWF:RCo) between 0.05 and 0.50 IU mL(-1) on at least two occasions and RCo/Ag ratio < 0.6 and no loss of high molecular weight multimers).
|
17596142 |
2007 |
von Willebrand disease type 2M
|
0.500 |
Biomarker
|
disease |
BEFREE |
To evaluate biological responsiveness to desmopressin, the FVIII/VWF changes during pregnancy and the clinical outcome in pregnancies and deliveries of six primipara with type 2M VWD Vicenza prospectively followed.
|
16420565 |
2006 |
von Willebrand disease type 2M
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The interaction of von Willebrand factor-A1 domain with collagen: mutation G1324S (type 2M von Willebrand disease) impairs the conformational change in A1 domain induced by collagen.
|
16420575 |
2006 |
von Willebrand disease type 2M
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus, the new S1285F mutation within the A1 loop was responsible for the type 2M VWD observed in these patients, and was involved in the binding of VWF to botrocetin and to platelet glycoprotein Ib (GPIb).
|
12588351 |
2003 |
von Willebrand disease type 2M
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of a new type 2M von Willebrand disease mutation also at position 1324 of von Willebrand factor.
|
12008946 |
2002 |
von Willebrand disease type 2M
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Von Willebrand disease type 2M "Vicenza" (VWD 2M V) is characterised by autosomal dominant inheritance, low von Willebrand factor (VWF) and the presence of "supranormal" multimers in plasma.
|
10669167 |
2000 |
von Willebrand disease type 2M
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Type 2M von Willebrand disease: F606I and I662F mutations in the glycoprotein Ib binding domain selectively impair ristocetin- but not botrocetin-mediated binding of von Willebrand factor to platelets.
|
9473222 |
1998 |
von Willebrand disease type 2M
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The patients with vWd type 2M (Vicenza) could be allocated into two subgroups: type "platelet normal" with normal vWf properties in platelets and type "platelet low" with reduced vWf: Ag levels in platelets.
|
9253800 |
1997 |
von Willebrand disease type 2M
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
von Willebrand disease type 2M
|
0.500 |
Biomarker
|
disease |
CTD_human |
|
|
|