MCID: TYP016
MIFTS: 29

Type 2m Von Willebrand Disease malady

Genetic diseases (common) category
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Summaries for Type 2m Von Willebrand Disease

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33MalaCards
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MalaCards: 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 factor xi 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.

Aliases & Classifications for Type 2m Von Willebrand Disease

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20GeneTests, 22GTR, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

type 2m von willebrand disease 20 22
von willebrand disease type 2m 62


Related Diseases for Type 2m Von Willebrand Disease

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Type 2m Von Willebrand Disease

Genetic Tests for Type 2m Von Willebrand Disease

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20GeneTests, 22GTR
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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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52PubMed
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Articles related to Type 2m Von Willebrand Disease:

(show all 13)
idTitleAuthorsYear
1
Variability in platelet- and collagen-binding defects in type 2M von Willebrand disease. (23496210)
2013
2
Type 2M von Willebrand disease: a variant of type 2A? (18036186)
2008
3
Biologic response to subcutaneous and intranasal therapy with desmopressin in a large Amish kindred with Type 2M von Willebrand disease. (18312368)
2008
4
Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study. (17596142)
2007
5
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
6
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
7
The Y/C1584 mutation of von Willebrand factor in type 2M von Willebrand disease: frequency and clearance of von Willebrand factor. (16042701)
2005
8
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
9
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
10
Time for a redefinition of type 2M von Willebrand disease. (12181067)
2002
11
Identification of a new type 2M von Willebrand disease mutation also at position 1324 of von Willebrand factor. (12008946)
2002
12
Type 2M von Willebrand disease variant characterized by abnormal von willebrand factor multimerization. (11150026)
2001
13
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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Type 2m Von Willebrand Disease

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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50PathCards, 55Reactome, 30KEGG, 38NCBI BioSystems Database, 53QIAGEN, 54R&D Systems
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Pathways related to Type 2m Von Willebrand Disease according to GeneCards/GeneDecks:

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 Pathway38
Complement and Coagulation Cascades38
9.1F8, VWF
4
Show member pathways
9.1F8, VWF

Compounds for genes affiliated with Type 2m Von Willebrand Disease

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Sources:
45Novoseek, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 51PharmGKB, 24HMDB, 3BitterDB
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Compounds related to Type 2m Von Willebrand Disease according to GeneCards/GeneDecks:

(show all 42)
idCompoundScoreTop Affiliating Genes
1recombinate459.6F8, VWF
2tributylphosphate459.6VWF, F8
3kogenate459.6VWF, F8
4rfviii459.6F8, VWF
5hydroxyethyl starch459.6F8, VWF
6tranexamic acid45 1110.5VWF, F8
7ristocetin459.5F8, VWF
8desmopressin45 61 29 1112.5F8, VWF
9hirudin459.5VWF, F8
10ivig459.5F8, VWF
11warfarin45 51 24 1112.5VWF, F8
12rituximab45 51 1111.5F8, VWF
13acetaminophen45 3 51 24 1113.5F8, VWF
14thromboxane a245 2410.5VWF, F8
15latex459.5F8, VWF
16homocysteine45 2410.5F8, VWF
17prednisolone45 29 1111.5VWF, F8
18citrate459.5F8, VWF
19agarose459.5F8, VWF
20cyclophosphamide45 51 1111.5VWF, F8
21prostacyclin459.5F8, VWF
22phosphatidylserine45 29 1111.5VWF, F8
23aspirin45 51 29 2412.5F8, VWF
24epinephrine45 24 1111.5F8, VWF
25methionine459.5VWF, F8
26fibrinogen459.4F8, VWF
27norepinephrine45 24 1111.4VWF, F8
28phospholipid459.4F8, VWF
29cyclosporin a45 29 6111.4F8, VWF
30glutamine459.4VWF, F8
31lactate459.4F8, VWF
32creatinine459.4VWF, F8
33aspartate459.4F8, VWF
34heparin45 29 24 1112.3F8, VWF
35cholesterol45 29 24 1112.3VWF, F8
36oligonucleotide459.3F8, VWF
37dexamethasone45 51 29 1112.2VWF, F8
38vegf459.2F8, VWF
39arginine459.1F8, VWF
40adp45 29 2411.1F8, VWF
41nitric oxide45 24 1111.0VWF, F8
42alanine458.8F8, VWF

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

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16Gene Ontology
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Cellular components related to Type 2m Von Willebrand Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.1F8, VWF

Biological processes related to Type 2m Von Willebrand Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulation, intrinsic pathwayGO:0075979.2VWF, F8
2platelet degranulationGO:0025769.1F8, VWF
3blood coagulationGO:0075969.1F8, VWF
4platelet activationGO:0301689.0F8, VWF
5cell adhesionGO:0071558.8VWF, F8

Products for genes affiliated with Type 2m Von Willebrand Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Type 2m Von Willebrand Disease

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet