MCID: TYP016
MIFTS: 29

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:
20GeneTests, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Type 2m Von Willebrand Disease:

Name: Type 2m Von Willebrand Disease 20
 
Von Willebrand Disease Type 2m 48 22 61


Classifications:



Characteristics (Orphanet epidemiological data):

48
von willebrand disease type 2m:
Inheritance: Autosomal dominant


External Ids:

Orphanet48 166090
ICD10 via Orphanet26 D68.0
UMLS via Orphanet62 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 factor xi deficiency, autosomal recessive and factor viii deficiency. 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+. The compounds recombinate and tributylphosphate have been mentioned in the context of this disorder.

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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Drug clinical trials:

Search ClinicalTrials for Type 2m Von Willebrand Disease

Search 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 Disease20
2 Von Willebrand Disease Type 2m22

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1F8, VWF
2
Show member pathways
9.1F8, VWF
3
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
9.1F8, VWF
4
Show member pathways
9.1F8, VWF

Compounds for genes affiliated with Type 2m Von Willebrand Disease

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

(show all 42)
idCompoundScoreTop Affiliating Genes
1recombinate449.6VWF, F8
2tributylphosphate449.6F8, VWF
3kogenate449.6F8, VWF
4rfviii449.6VWF, F8
5hydroxyethyl starch449.6F8, VWF
6tranexamic acid44 1110.5VWF, F8
7ristocetin449.5VWF, F8
8desmopressin44 60 28 1112.5VWF, F8
9hirudin449.5F8, VWF
10ivig449.5F8, VWF
11warfarin44 50 24 1112.5VWF, F8
12rituximab44 50 1111.5F8, VWF
13acetaminophen44 1 50 24 1113.5VWF, F8
14thromboxane a244 2410.5VWF, F8
15latex449.5VWF, F8
16homocysteine44 2410.5F8, VWF
17prednisolone44 28 1111.5VWF, F8
18citrate449.5F8, VWF
19agarose449.5VWF, F8
20cyclophosphamide44 50 1111.5F8, VWF
21prostacyclin449.5F8, VWF
22phosphatidylserine44 28 1111.5F8, VWF
23aspirin44 50 28 2412.5F8, VWF
24epinephrine44 24 1111.5F8, VWF
25methionine449.5F8, VWF
26fibrinogen449.4VWF, F8
27norepinephrine44 24 1111.4VWF, F8
28phospholipid449.4VWF, F8
29cyclosporin a44 28 6011.4F8, VWF
30glutamine449.4F8, VWF
31lactate449.4F8, VWF
32creatinine449.4VWF, F8
33aspartate449.4VWF, F8
34heparin44 28 24 1112.3F8, VWF
35cholesterol44 28 24 1112.3F8, VWF
36oligonucleotide449.3F8, VWF
37dexamethasone44 50 28 1112.2F8, VWF
38vegf449.2F8, VWF
39arginine449.1F8, VWF
40adp44 28 2411.1VWF, F8
41nitric oxide44 24 1111.0F8, VWF
42alanine448.8F8, VWF

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:00075979.2F8, VWF
2platelet degranulationGO:00025769.1F8, VWF
3blood coagulationGO:00075969.1F8, VWF
4platelet activationGO:00301689.0VWF, F8
5cell adhesionGO:00071558.8F8, VWF

Sources for Type 2m Von Willebrand Disease

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet