MCID: TYP014
MIFTS: 20

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 24
Von Willebrand Disease Type Iia 24
 
Von Willebrand Disease, Type 2a 68

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 myocardial infarction. An important gene associated with Type 2a Von Willebrand Disease is VWF (Von Willebrand Factor), and among its related pathways is Angiogenesis (CST). Related mouse phenotypes are Decreased NANOG protein expression and Decreased OCT4 protein expression.

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 2n11.5
2myocardial infarction9.9
3leukemia9.9
4chronic myelocytic leukemia9.9
5vapb-related amyotrophic lateral sclerosis9.8ADAMTS1, VWF

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



Diseases related to type 2a von willebrand disease

Symptoms & Phenotypes for Type 2a Von Willebrand Disease

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00184-A-68.5ADAMTS1, VWF, ADAMTS1, VWF
2GR00184-A-58.5ADAMTS1, VWF, ADAMTS1, VWF
3GR00184-A-47.8ADAMTS1, VWF, ADAMTS1, VWF

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):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Natriuretic AgentsPhase 41697
2VasopressinsPhase 4294
3HemostaticsPhase 41443
4Deamino Arginine VasopressinPhase 477
5Arginine VasopressinPhase 4299
6CoagulantsPhase 41500
7arginineNutraceuticalPhase 4425

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 Disease24

Anatomical Context for Type 2a Von Willebrand Disease

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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
Identification and Functional Analysis of a Novel von Willebrand Factor Mutation in a Family with Type 2A von Willebrand Disease. (22479377)
2012
4
Modeling ADAMTS13-von Willebrand factor interaction: Implications for oxidative stress-related cardiovascular diseases and type 2A von Willebrand disease. (21937160)
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
Myocardial infarction following recombinant activated factor VII in a patient with type 2A von Willebrand disease. (15311160)
2004
12
Molecular modeling of the von Willebrand factor A2 Domain and the effects of associated type 2A von Willebrand disease mutations. (15322948)
2004
13
A new mutation, Ala1500-->Glu, responsible for type 2A von Willebrand disease. (11197223)
2000
14
Study on genetic mutations of the vWF in type 2A von Willebrand disease]. (10932002)
2000
15
Identification of a new candidate mutation, G1629R, in a family with type 2A von Willebrand disease. (10203106)
1999
16
Mutation (Ala737-->Glu) in type 2A von Willebrand disease]. (11601234)
1999
17
Intranasal administration of demopressin (DDAVP) for type 1 and type 2A von Willebrand disease. (9608359)
1998
18
Two novel mutations (Pro864His, Val867Glu) causing type 2A von Willebrand disease and affecting a single restriction site in exon 28. (9858250)
1998
19
A novel mutation (Leu817Pro) causing type 2A von Willebrand disease. (8562403)
1996
20
Acquired type 2A von Willebrand disease in chronic myelocytic leukemia. (8878731)
1996
21
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 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
1extracellular matrixGO:00310129.8ADAMTS1, VWF
2proteinaceous extracellular matrixGO:00055789.1ADAMTS1, VWF

Sources for Type 2a Von Willebrand Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet