MCID: TYP014
MIFTS: 27

Type 2a Von Willebrand Disease malady

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Type 2a Von Willebrand Disease

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Sources:
22GeneTests, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Type 2a Von Willebrand Disease:

Name: Type 2a Von Willebrand Disease 22
Von Willebrand Disease Type 2a 51 24
 
Von Willebrand Disease Type Iia 22
Von Willebrand Disease, Type 2a 65

Characteristics:

Orphanet epidemiological data:

51
von willebrand disease type 2a:
Inheritance: Autosomal dominant,Autosomal recessive

Classifications:



External Ids:

Orphanet51 166084
ICD10 via Orphanet28 D68.0
UMLS via Orphanet66 C1282968
UMLS65 C1282968

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 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). Affiliated tissues include neutrophil, endothelial and ovary.

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 2n11.4
2myocardial infarction10.0
3leukemia10.0
4chronic myelocytic leukemia10.0
5type 2b 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):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Natriuretic AgentsPhase 41403
2VasopressinsPhase 4260
3HemostaticsPhase 41082
4Deamino Arginine VasopressinPhase 468
5Arginine VasopressinPhase 4264
6CoagulantsPhase 41042
7arginineNutraceuticalPhase 4364

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 Disease22

Anatomical Context for Type 2a Von Willebrand Disease

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MalaCards organs/tissues related to Type 2a Von Willebrand Disease:

33
Neutrophil, Endothelial, Ovary, Kidney

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

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MGI Mouse Phenotypes related to Type 2a Von Willebrand Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Type 2a Von Willebrand Disease

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Articles related to Type 2a Von Willebrand Disease:

(show all 22)
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
Molecular modeling of the von Willebrand factor A2 Domain and the effects of associated type 2A von Willebrand disease mutations. (15322948)
2004
11
Myocardial infarction following recombinant activated factor VII in a patient with type 2A von Willebrand disease. (15311160)
2004
12
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
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
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
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
A novel mutation (Leu817Pro) causing type 2A von Willebrand disease. (8562403)
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
22

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

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Sources for Type 2a Von Willebrand Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet