MCID: TYP014
MIFTS: 17

Type 2a Von Willebrand Disease malady

Category: Genetic diseases (common)

Aliases & Classifications for Type 2a Von Willebrand Disease

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Aliases & Descriptions for Type 2a Von Willebrand Disease:

Name: Type 2a Von Willebrand Disease 23
Von Willebrand Disease Type Iia 23
 
Von Willebrand Disease, Type 2a 66

Classifications:



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 iia, is related to von willebrand disease, types 2a, 2b, 2m, and 2n and von willebrand disease. An important gene associated with Type 2a Von Willebrand Disease is VWF (Von Willebrand Factor), and among its related pathways is Angiogenesis (CST).

Related Diseases for Type 2a Von Willebrand Disease

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Diseases related to Type 2a Von Willebrand Disease via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1von willebrand disease, types 2a, 2b, 2m, and 2n11.6
2von willebrand disease10.7
3myocardial infarction10.0
4leukemia10.0
5chronic myelocytic leukemia10.0
6type 2m von willebrand disease9.5ADAMTS1, VWF

Graphical network of 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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Drugs for Type 2a Von Willebrand Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1arginineNutraceuticalPhase 4393

Interventional clinical trials:

idNameStatusNCT IDPhase
1Severe Aortic Stenosis and Acquired Von Willebrand┬┤s Disease: The Impact of Desmopressin in Valve-Replacement SurgeryCompletedNCT01994330Phase 4

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 Disease23

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 21)
idTitleAuthorsYear
1
Type 2M and Type 2A von Willebrand Disease: Similar but Different. (27148841)
2016
2
Structural basis of type 2A von Willebrand disease investigated by molecular dynamics simulations and experiments. (23110044)
2012
3
Modeling ADAMTS13-von Willebrand factor interaction: Implications for oxidative stress-related cardiovascular diseases and type 2A von Willebrand disease. (21937160)
2012
4
Identification and Functional Analysis of a Novel von Willebrand Factor Mutation in a Family with Type 2A von Willebrand Disease. (22479377)
2012
5
No excess surgical blood loss in patients with acquired type 2A von Willebrand disease. (21189095)
2011
6
Bleeding management of uterine conization using a pasteurized FVIII/VWF Concentrate in a woman affected by type 2A von willebrand disease. (18160560)
2009
7
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
8
Diagnostic and therapeutic difficulties in type 2A von Willebrand disease: resolution. (16708129)
2006
9
Theoretical structural explanation for Group I and Group II, type 2A von Willebrand disease mutations. (15842374)
2005
10
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
11
Molecular modeling of the von Willebrand factor A2 Domain and the effects of associated type 2A von Willebrand disease mutations. (15322948)
2004
12
Myocardial infarction following recombinant activated factor VII in a patient with type 2A von Willebrand disease. (15311160)
2004
13
Study on genetic mutations of the vWF in type 2A von Willebrand disease]. (10932002)
2000
14
A new mutation, Ala1500-->Glu, responsible for type 2A von Willebrand disease. (11197223)
2000
15
Mutation (Ala737-->Glu) in type 2A von Willebrand disease]. (11601234)
1999
16
Identification of a new candidate mutation, G1629R, in a family with type 2A von Willebrand disease. (10203106)
1999
17
Two novel mutations (Pro864His, Val867Glu) causing type 2A von Willebrand disease and affecting a single restriction site in exon 28. (9858250)
1998
18
Intranasal administration of demopressin (DDAVP) for type 1 and type 2A von Willebrand disease. (9608359)
1998
19
Acquired type 2A von Willebrand disease in chronic myelocytic leukemia. (8878731)
1996
20
Analysis of Arg834Gln and Val902Glu type 2A von Willebrand disease mutations: studies with recombinant von Willebrand factor and correlation with patient characteristics. (8639896)
1996
21
A novel mutation (Leu817Pro) causing type 2A von Willebrand disease. (8562403)
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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1ADAMTS1, VWF

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
1proteinaceous extracellular matrixGO:00055789.1ADAMTS1, VWF

Sources for Type 2a Von Willebrand Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet