MCID: TYP016
MIFTS: 24

Type 2m Von Willebrand Disease malady

Genetic diseases, Blood diseases, Rare diseases categories

Aliases & Classifications for Type 2m Von Willebrand Disease

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Sources:
22GeneTests, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Type 2m Von Willebrand Disease:

Name: Type 2m Von Willebrand Disease 22
Von Willebrand Disease Type 2m 51 24 65
 
Von Willebrand Disease Type Iim 22


Classifications:



Characteristics (Orphanet epidemiological data):

51
von willebrand disease type 2m:
Inheritance: Autosomal dominant


External Ids:

Orphanet51 166090
ICD10 via Orphanet28 D68.0
UMLS via Orphanet66 C1282974

Summaries for Type 2m Von Willebrand Disease

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MalaCards based summary: Type 2m Von Willebrand Disease, also known as von willebrand disease type 2m, is related to von willebrand disease, types 2a, 2b, 2m, and 2n and type 2n von willebrand disease. An important gene associated with Type 2m Von Willebrand Disease is VWF (Von Willebrand Factor), and among its related pathways are Hemostasis and Response to elevated platelet cytosolic Ca2+.

Related Diseases for Type 2m Von Willebrand Disease

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



Diseases related to type 2m von willebrand disease

Symptoms for Type 2m Von Willebrand Disease

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Drugs & Therapeutics for Type 2m Von Willebrand Disease

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Interventional clinical trials:

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

Genetic Tests for Type 2m Von Willebrand Disease

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Genetic tests related to Type 2m Von Willebrand Disease:

id Genetic test Affiliating Genes
1 Type 2m Von Willebrand Disease22
2 Von Willebrand Disease Type 2m24

Anatomical Context for Type 2m Von Willebrand Disease

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Animal Models for Type 2m Von Willebrand Disease or affiliated genes

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Publications for Type 2m Von Willebrand Disease

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Articles related to Type 2m Von Willebrand Disease:

(show all 14)
idTitleAuthorsYear
1
Acute coronary syndrome and coronary intervention in a patient with type 2M von Willebrand disease. (25127978)
2014
2
Variability in platelet- and collagen-binding defects in type 2M von Willebrand disease. (23496210)
2013
3
Type 2M von Willebrand disease: a variant of type 2A? (18036186)
2008
4
Biologic response to subcutaneous and intranasal therapy with desmopressin in a large Amish kindred with Type 2M von Willebrand disease. (18312368)
2008
5
Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study. (17596142)
2007
6
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
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
The Y/C1584 mutation of von Willebrand factor in type 2M von Willebrand disease: frequency and clearance of von Willebrand factor. (16042701)
2005
9
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
10
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
11
Time for a redefinition of type 2M von Willebrand disease. (12181067)
2002
12
Identification of a new type 2M von Willebrand disease mutation also at position 1324 of von Willebrand factor. (12008946)
2002
13
Type 2M von Willebrand disease variant characterized by abnormal von willebrand factor multimerization. (11150026)
2001
14
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

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Expression for genes affiliated with Type 2m Von Willebrand Disease

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

Pathways for genes affiliated with Type 2m Von Willebrand Disease

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

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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 coagulation, intrinsic pathwayGO:00075979.6F8, VWF
2platelet degranulationGO:00025769.5F8, VWF
3platelet activationGO:00301689.1F8, VWF
4blood coagulationGO:00075968.8F8, VWF

Sources for Type 2m Von Willebrand Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet