MCID: TYP016
MIFTS: 18

Type 2m Von Willebrand Disease malady

Category: Genetic diseases (common)

Aliases & Classifications for Type 2m Von Willebrand Disease

About this section

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 68

Classifications:



Summaries for Type 2m Von Willebrand Disease

About this section
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 are Formation of Fibrin Clot (Clotting Cascade) and Complement and coagulation cascades.

Related Diseases for Type 2m Von Willebrand Disease

About this section

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

About this section

Drugs & Therapeutics for Type 2m Von Willebrand Disease

About this section

Interventional clinical trials:

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

Genetic Tests for Type 2m Von Willebrand Disease

About this section

Genetic tests related to Type 2m Von Willebrand Disease:

id Genetic test Affiliating Genes
1 Type 2m Von Willebrand Disease24

Anatomical Context for Type 2m Von Willebrand Disease

About this section

Publications for Type 2m Von Willebrand Disease

About this section

Articles related to Type 2m Von Willebrand Disease:

(show all 15)
idTitleAuthorsYear
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

About this section

Expression for genes affiliated with Type 2m Von Willebrand Disease

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

Pathways for genes affiliated with Type 2m Von Willebrand Disease

About this section

GO Terms for genes affiliated with Type 2m Von Willebrand Disease

About this section

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

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.1F8, VWF

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

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00075969.8F8, VWF
2blood coagulation, intrinsic pathwayGO:00075979.7F8, VWF
3hemostasisGO:00075999.7F8, VWF
4platelet activationGO:00301689.7F8, VWF
5platelet degranulationGO:00025769.1F8, VWF

Sources for Type 2m Von Willebrand Disease

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet