MCID: TYP014
MIFTS: 24

Type 2a Von Willebrand Disease malady

Genetic diseases, Blood diseases, Rare diseases categories

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 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 2a 65


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet51 166084
ICD10 via Orphanet28 D68.0
UMLS via Orphanet66 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 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).

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
1myocardial infarction10.4
2von willebrand disease, types 2a, 2b, 2m, and 2n10.4
3leukemia10.4
4chronic myelocytic leukemia10.4
5type 2b von willebrand disease9.8ADAMTS1, 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
1VasopressinsPhase 4159
2Deamino Arginine VasopressinPhase 465
3CoagulantsPhase 4983
4Arginine VasopressinPhase 4163
5arginineNutraceuticalPhase 4346

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
2 Von Willebrand Disease, Type 2a24

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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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 19)
idTitleAuthorsYear
1
Structural basis of type 2A von Willebrand disease investigated by molecular dynamics simulations and experiments. (23110044)
2012
2
Identification and Functional Analysis of a Novel von Willebrand Factor Mutation in a Family with Type 2A von Willebrand Disease. (22479377)
2012
3
No excess surgical blood loss in patients with acquired type 2A von Willebrand disease. (21189095)
2011
4
Bleeding management of uterine conization using a pasteurized FVIII/VWF Concentrate in a woman affected by type 2A von willebrand disease. (18160560)
2009
5
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
6
Diagnostic and therapeutic difficulties in type 2A von Willebrand disease: resolution. (16708129)
2006
7
Theoretical structural explanation for Group I and Group II, type 2A von Willebrand disease mutations. (15842374)
2005
8
Molecular modeling of the von Willebrand factor A2 Domain and the effects of associated type 2A von Willebrand disease mutations. (15322948)
2004
9
Myocardial infarction following recombinant activated factor VII in a patient with type 2A von Willebrand disease. (15311160)
2004
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
Study on genetic mutations of the vWF in type 2A von Willebrand disease]. (10932002)
2000
12
A new mutation, Ala1500-->Glu, responsible for type 2A von Willebrand disease. (11197223)
2000
13
Identification of a new candidate mutation, G1629R, in a family with type 2A von Willebrand disease. (10203106)
1999
14
Mutation (Ala737-->Glu) in type 2A von Willebrand disease]. (11601234)
1999
15
Two novel mutations (Pro864His, Val867Glu) causing type 2A von Willebrand disease and affecting a single restriction site in exon 28. (9858250)
1998
16
Intranasal administration of demopressin (DDAVP) for type 1 and type 2A von Willebrand disease. (9608359)
1998
17
Acquired type 2A von Willebrand disease in chronic myelocytic leukemia. (8878731)
1996
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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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:00310129.1ADAMTS1, VWF
2proteinaceous extracellular matrixGO:00055789.0ADAMTS1, VWF

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