MCID: TYP014
MIFTS: 29

Type 2a Von Willebrand Disease malady

Genetic diseases, Blood diseases, Rare diseases categories

Summaries for Type 2a Von Willebrand Disease

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MalaCards based summary: Type 2a Von Willebrand Disease, also known as von willebrand disease type 2a, is related to myocardial infarction and von willebrand disease, types 2a, 2b, 2m, and 2n. An important gene associated with Type 2a Von Willebrand Disease is VWF (von Willebrand factor), and among its related pathways are Response to elevated platelet cytosolic Ca2+ and Complement and coagulation cascades. The compounds recombinate and kogenate have been mentioned in the context of this disorder.

Aliases & Classifications for Type 2a Von Willebrand Disease

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Sources:
20GeneTests, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Type 2a Von Willebrand Disease, Aliases & Descriptions:

Name: Type 2a Von Willebrand Disease 20
Von Willebrand Disease Type 2a 47 22
 
Von Willebrand Disease, Type 2a 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 2a:
Inheritance: Autosomal dominant,Autosomal recessive


External Ids:

Orphanet47 166084
ICD10 via Orphanet26 D68.0
UMLS via Orphanet61 C1282968

Related Diseases for Type 2a Von Willebrand Disease

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



Diseases related to type 2a von willebrand disease

Symptoms for Type 2a Von Willebrand Disease

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Drugs & Therapeutics for Type 2a Von Willebrand Disease

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Drug clinical trials:

Search ClinicalTrials for Type 2a Von Willebrand Disease

Search NIH Clinical Center for Type 2a Von Willebrand Disease

Genetic Tests for Type 2a Von Willebrand Disease

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Genetic tests related to Type 2a Von Willebrand Disease:

id Genetic test Affiliating Genes
1 Type 2a Von Willebrand Disease20
2 Von Willebrand Disease, Type 2a22

Anatomical Context for Type 2a Von Willebrand Disease

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

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Publications for Type 2a Von Willebrand Disease

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Articles related to Type 2a Von Willebrand Disease:

(show all 19)
idTitleAuthorsYear
1
Structural basis of type 2A von Willebrand disease investigated by molecular dynamics simulations and experiments. (23110044)
2012
2
Modeling ADAMTS13-von Willebrand factor interaction: Implications for oxidative stress-related cardiovascular diseases and type 2A von Willebrand disease. (21937160)
2012
3
Identification and Functional Analysis of a Novel von Willebrand Factor Mutation in a Family with Type 2A von Willebrand Disease. (22479377)
2012
4
No excess surgical blood loss in patients with acquired type 2A von Willebrand disease. (21189095)
2011
5
Bleeding management of uterine conization using a pasteurized FVIII/VWF Concentrate in a woman affected by type 2A von willebrand disease. (18160560)
2009
6
L1503R is a member of group I mutation and has dominant-negative effect on secretion of full-length VWF multimers: an analysis of two patients with type 2A von Willebrand disease. (18397285)
2008
7
Diagnostic and therapeutic difficulties in type 2A von Willebrand disease: resolution. (16708129)
2006
8
Theoretical structural explanation for Group I and Group II, type 2A von Willebrand disease mutations. (15842374)
2005
9
Molecular modeling of the von Willebrand factor A2 Domain and the effects of associated type 2A von Willebrand disease mutations. (15322948)
2004
10
Myocardial infarction following recombinant activated factor VII in a patient with type 2A von Willebrand disease. (15311160)
2004
11
C1272S: a new candidate mutation in type 2A von Willebrand disease that disrupts the disulfide loop responsible for the interaction of VWF with platelet GP Ib-IX. (14755371)
2004
12
Study on genetic mutations of the vWF in type 2A von Willebrand disease]. (10932002)
2000
13
A new mutation, Ala1500-->Glu, responsible for type 2A von Willebrand disease. (11197223)
2000
14
Identification of a new candidate mutation, G1629R, in a family with type 2A von Willebrand disease. (10203106)
1999
15
Mutation (Ala737-->Glu) in type 2A von Willebrand disease]. (11601234)
1999
16
Two novel mutations (Pro864His, Val867Glu) causing type 2A von Willebrand disease and affecting a single restriction site in exon 28. (9858250)
1998
17
Intranasal administration of demopressin (DDAVP) for type 1 and type 2A von Willebrand disease. (9608359)
1998
18
A novel mutation (Leu817Pro) causing type 2A von Willebrand disease. (8562403)
1996
19
Analysis of Arg834Gln and Val902Glu type 2A von Willebrand disease mutations: studies with recombinant von Willebrand factor and correlation with patient characteristics. (8639896)
1996

Variations for Type 2a Von Willebrand Disease

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Expression for genes affiliated with Type 2a Von Willebrand Disease

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

Pathways for genes affiliated with Type 2a Von Willebrand Disease

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0F8, VWF
2
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
9.0F8, VWF
3
Show member pathways
9.0F8, VWF

Compounds for genes affiliated with Type 2a Von Willebrand Disease

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

(show all 31)
idCompoundScoreTop Affiliating Genes
1recombinate439.4F8, VWF
2kogenate439.4F8, VWF
3tributylphosphate439.4F8, VWF
4rfviii439.4VWF, F8
5hydroxyethyl starch439.4F8, VWF
6tranexamic acid43 1210.4F8, VWF
7ristocetin439.4F8, VWF
8desmopressin43 59 28 1212.4F8, VWF
9tgf beta1439.4ADAMTS1, F8
10hirudin439.4F8, VWF
11ivig439.4F8, VWF
12warfarin43 49 24 1212.4VWF, F8
13rituximab43 49 1211.4F8, VWF
14acetaminophen43 2 49 24 1213.4F8, VWF
15thromboxane a243 2410.3F8, VWF
16latex439.3VWF, F8
17homocysteine43 2410.3F8, VWF
18prednisolone43 28 1211.3F8, VWF
19citrate439.3F8, VWF
20agarose439.3F8, VWF
21cyclophosphamide43 49 1211.3F8, VWF
22prostacyclin439.2F8, VWF
23phosphatidylserine43 28 1211.2F8, VWF
24aspirin43 49 28 2412.1F8, VWF
25epinephrine43 24 1211.1F8, VWF
26methionine439.0VWF, F8
27phospholipid439.0F8, VWF
28fibrinogen438.9F8, VWF
29heparin43 28 24 1211.9VWF, ADAMTS1, F8
30norepinephrine43 24 1210.7F8, VWF
31serine438.7VWF, ADAMTS1, F8

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

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Cellular components related to Type 2a Von Willebrand Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.0F8, VWF

Biological processes related to Type 2a Von Willebrand Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet activationGO:00301689.0F8, VWF
2blood coagulation, intrinsic pathwayGO:00075978.9F8, VWF
3platelet degranulationGO:00025768.7F8, VWF

Products for genes affiliated with Type 2a Von Willebrand Disease

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

Sources for Type 2a 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