MCID: TYP016
MIFTS: 18

Type 2m Von Willebrand Disease malady

Categories: Genetic diseases

Aliases & Classifications for Type 2m Von Willebrand Disease

Aliases & Descriptions for Type 2m Von Willebrand Disease:

Name: Type 2m Von Willebrand Disease 24
Von Willebrand Disease Type Iim 24
Von Willebrand Disease Type 2m 69

Classifications:



Summaries for Type 2m Von Willebrand Disease

MalaCards based summary : Type 2m Von Willebrand Disease, also known as von willebrand disease type iim, is related to von willebrand disease, types 2a, 2b, 2m, and 2n and vcl-related familial hypertrophic cardiomyopathy. An important gene associated with Type 2m Von Willebrand Disease is VWF (Von Willebrand Factor), and among its related pathways/superpathways are Formation of Fibrin Clot (Clotting Cascade) and Complement and coagulation cascades.

Related Diseases for Type 2m Von Willebrand Disease

Graphical network of the top 20 diseases related to Type 2m Von Willebrand Disease:



Diseases related to Type 2m Von Willebrand Disease

Symptoms & Phenotypes for Type 2m Von Willebrand Disease

Drugs & Therapeutics for Type 2m Von Willebrand Disease

Search Clinical Trials , NIH Clinical Center for Type 2m Von Willebrand Disease

Genetic Tests for Type 2m Von Willebrand Disease

Genetic tests related to Type 2m Von Willebrand Disease:

id Genetic test Affiliating Genes
1 Type 2m Von Willebrand Disease 24

Anatomical Context for Type 2m Von Willebrand Disease

Publications for Type 2m Von Willebrand Disease

Articles related to Type 2m Von Willebrand Disease:

(show all 15)
id Title Authors Year
1
Type 2M von Willebrand disease - more often misidentified than correctly identified. ( 27029718 )
2016
2
Acute coronary syndrome and coronary intervention in a patient with type 2M von Willebrand disease. ( 25127978 )
2014
3
Variability in platelet- and collagen-binding defects in type 2M von Willebrand disease. ( 23496210 )
2013
4
Biologic response to subcutaneous and intranasal therapy with desmopressin in a large Amish kindred with Type 2M von Willebrand disease. ( 18312368 )
2008
5
Type 2M von Willebrand disease: a variant of type 2A? ( 18036186 )
2008
6
Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study. ( 17596142 )
2007
7
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
8
Factor VIII and von Willebrand factor changes after desmopressin and during pregnancy in type 2M von Willebrand disease Vicenza: a prospective study comparing patients with single (R1205H) and double (R1205H-M740I) defect. ( 16420565 )
2006
9
The Y/C1584 mutation of von Willebrand factor in type 2M von Willebrand disease: frequency and clearance of von Willebrand factor. ( 16042701 )
2005
10
A new mutation, S1285F, within the A1 loop of von Willebrand factor induces a conformational change in A1 loop with abnormal binding to platelet GPIb and botrocetin causing type 2M von Willebrand disease. ( 12588351 )
2003
11
Use of the collagen-binding assay for von Willebrand factor in the analysis of type 2M von Willebrand disease: a comparison with the ristocetin cofactor assay. ( 11841416 )
2002
12
Time for a redefinition of type 2M von Willebrand disease. ( 12181067 )
2002
13
Identification of a new type 2M von Willebrand disease mutation also at position 1324 of von Willebrand factor. ( 12008946 )
2002
14
Type 2M von Willebrand disease variant characterized by abnormal von willebrand factor multimerization. ( 11150026 )
2001
15
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

Variations for Type 2m Von Willebrand Disease

ClinVar genetic disease variations for Type 2m Von Willebrand Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 VWF NM_000552.4(VWF): c.3970G> A (p.Gly1324Ser) single nucleotide variant Pathogenic rs61749398 GRCh37 Chromosome 12, 6128614: 6128614
2 VWF NM_000552.4(VWF): c.3854C> T (p.Ser1285Phe) single nucleotide variant Pathogenic rs61749380 GRCh37 Chromosome 12, 6128730: 6128730

Expression for Type 2m Von Willebrand Disease

Search GEO for disease gene expression data for Type 2m Von Willebrand Disease.

Pathways for Type 2m Von Willebrand Disease

Pathways related to Type 2m Von Willebrand Disease according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.16 F8 VWF
2 10.77 F8 VWF

GO Terms for Type 2m Von Willebrand Disease

Cellular components related to Type 2m Von Willebrand Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 platelet alpha granule lumen GO:0031093 8.62 F8 VWF

Biological processes related to Type 2m Von Willebrand Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.32 F8 VWF
2 platelet degranulation GO:0002576 9.26 F8 VWF
3 platelet activation GO:0030168 9.16 F8 VWF
4 hemostasis GO:0007599 8.96 F8 VWF
5 blood coagulation, intrinsic pathway GO:0007597 8.62 F8 VWF

Sources for Type 2m Von Willebrand Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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