MCID: TYP016
MIFTS: 29

Type 2m Von Willebrand Disease malady

Genetic diseases (common) category

Summaries for Type 2m Von Willebrand Disease

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34MalaCards
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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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21GeneTests, 23GTR, 63UMLS
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Classifications:

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


Aliases & Descriptions:

type 2m von willebrand disease 21 23
von willebrand disease type 2m 63


Related Diseases for Type 2m Von Willebrand Disease

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Type 2m Von Willebrand Disease

Search CenterWatch for Type 2m Von Willebrand Disease

Genetic Tests for Type 2m Von Willebrand Disease

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21GeneTests, 23GTR
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Genetic tests related to Type 2m Von Willebrand Disease:

id Genetic test Affiliating Genes
1 Type 2m Von Willebrand Disease21
2 Von Willebrand Disease Type 2m23

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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53PubMed
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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, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Type 2m Von Willebrand Disease

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Pathways for genes affiliated with Type 2m Von Willebrand Disease

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Sources:
51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database, 54QIAGEN, 55R&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 Pathway39
Complement and Coagulation Cascades39
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:
46Novoseek, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 52PharmGKB, 25HMDB, 3BitterDB
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Compounds related to Type 2m Von Willebrand Disease according to GeneCards/GeneDecks:

(show all 42)
idCompoundScoreTop Affiliating Genes
1recombinate469.6F8, VWF
2tributylphosphate469.6VWF, F8
3kogenate469.6VWF, F8
4rfviii469.6F8, VWF
5hydroxyethyl starch469.6F8, VWF
6tranexamic acid46 1210.5VWF, F8
7ristocetin469.5F8, VWF
8desmopressin46 62 30 1212.5F8, VWF
9hirudin469.5VWF, F8
10ivig469.5F8, VWF
11warfarin46 52 25 1212.5VWF, F8
12rituximab46 52 1211.5F8, VWF
13acetaminophen46 3 52 25 1213.5F8, VWF
14thromboxane a246 2510.5VWF, F8
15latex469.5F8, VWF
16homocysteine46 2510.5F8, VWF
17prednisolone46 30 1211.5VWF, F8
18citrate469.5F8, VWF
19agarose469.5F8, VWF
20cyclophosphamide46 52 1211.5VWF, F8
21prostacyclin469.5F8, VWF
22phosphatidylserine46 30 1211.5VWF, F8
23aspirin46 52 30 2512.5F8, VWF
24epinephrine46 25 1211.5F8, VWF
25methionine469.5VWF, F8
26fibrinogen469.4F8, VWF
27norepinephrine46 25 1211.4VWF, F8
28phospholipid469.4F8, VWF
29cyclosporin a46 30 6211.4F8, VWF
30glutamine469.4VWF, F8
31lactate469.4F8, VWF
32creatinine469.4VWF, F8
33aspartate469.4F8, VWF
34heparin46 30 25 1212.3F8, VWF
35cholesterol46 30 25 1212.3VWF, F8
36oligonucleotide469.3F8, VWF
37dexamethasone46 52 30 1212.2VWF, F8
38vegf469.2F8, VWF
39arginine469.1F8, VWF
40adp46 30 2511.1F8, VWF
41nitric oxide46 25 1211.0VWF, F8
42alanine468.8F8, VWF

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

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet