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, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Type 2m Von Willebrand Disease, Aliases & Descriptions:

Name: Type 2m Von Willebrand Disease 20
 
Von Willebrand Disease Type 2m 47 22 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

47
von willebrand disease type 2m:
Inheritance: Autosomal dominant


External Ids:

Orphanet47 166090
ICD10 via Orphanet26 D68.0
UMLS via Orphanet61 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
1recombinate439.6F8, VWF
2tributylphosphate439.6VWF, F8
3kogenate439.6VWF, F8
4rfviii439.6F8, VWF
5hydroxyethyl starch439.6F8, VWF
6tranexamic acid43 1210.5VWF, F8
7ristocetin439.5F8, VWF
8desmopressin43 59 28 1212.5F8, VWF
9hirudin439.5VWF, F8
10ivig439.5F8, VWF
11warfarin43 49 24 1212.5VWF, F8
12rituximab43 49 1211.5F8, VWF
13acetaminophen43 2 49 24 1213.5F8, VWF
14thromboxane a243 2410.5VWF, F8
15latex439.5F8, VWF
16homocysteine43 2410.5F8, VWF
17prednisolone43 28 1211.5VWF, F8
18citrate439.5F8, VWF
19agarose439.5F8, VWF
20cyclophosphamide43 49 1211.5VWF, F8
21prostacyclin439.5F8, VWF
22phosphatidylserine43 28 1211.5VWF, F8
23aspirin43 49 28 2412.5F8, VWF
24epinephrine43 24 1211.5F8, VWF
25methionine439.5VWF, F8
26fibrinogen439.4F8, VWF
27norepinephrine43 24 1211.4VWF, F8
28phospholipid439.4F8, VWF
29cyclosporin a43 28 5911.4F8, VWF
30glutamine439.4VWF, F8
31lactate439.4F8, VWF
32creatinine439.4VWF, F8
33aspartate439.4F8, VWF
34heparin43 28 24 1212.3F8, VWF
35cholesterol43 28 24 1212.3VWF, F8
36oligonucleotide439.3F8, VWF
37dexamethasone43 49 28 1212.2VWF, F8
38vegf439.2F8, VWF
39arginine439.1F8, VWF
40adp43 28 2411.1F8, VWF
41nitric oxide43 24 1211.0VWF, F8
42alanine438.8F8, 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:00075979.2VWF, F8
2platelet degranulationGO:00025769.1F8, VWF
3blood coagulationGO:00075969.1F8, VWF
4platelet activationGO:00301689.0F8, VWF
5cell adhesionGO:00071558.8VWF, F8

Products for genes affiliated with Type 2m Von Willebrand Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Type 2m Von Willebrand Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet