MCID: TYP014
MIFTS: 19

Type 2a Von Willebrand Disease malady

Category: Genetic diseases (common)

Aliases & Classifications for Type 2a Von Willebrand Disease

About this section

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 67

Classifications:



Summaries for Type 2a Von Willebrand Disease

About this section
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 Diseases for Type 2a Von Willebrand Disease

About this section

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
5type 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

About this section

Drugs & Therapeutics for Type 2a Von Willebrand Disease

About this section

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Natriuretic AgentsPhase 41645
2VasopressinsPhase 4286
3HemostaticsPhase 41359
4Deamino Arginine VasopressinPhase 472
5Arginine VasopressinPhase 4290
6CoagulantsPhase 41428
7arginineNutraceuticalPhase 4408

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

About this section

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

About this section

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

About this section

Publications for Type 2a Von Willebrand Disease

About this section

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

About this section

Clinvar genetic disease variations for Type 2a Von Willebrand Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1VWFNM_000552.4(VWF): c.4883T> C (p.Ile1628Thr)SNVPathogenicrs61750584GRCh37Chr 12, 6127701: 6127701
2VWFNM_000552.4(VWF): c.4789C> T (p.Arg1597Trp)SNVPathogenicrs61750117GRCh37Chr 12, 6127795: 6127795
3VWFNM_000552.4(VWF): c.4820T> A (p.Val1607Asp)SNVPathogenicrs61750579GRCh37Chr 12, 6127764: 6127764
4VWFNM_000552.4(VWF): c.4837T> C (p.Ser1613Pro)SNVPathogenicrs61750581GRCh37Chr 12, 6127747: 6127747
5VWFNM_000552.4(VWF): c.3814T> C (p.Cys1272Arg)SNVPathogenicrs61749372GRCh37Chr 12, 6128770: 6128770
6VWFNM_000552.4(VWF): c.4541T> G (p.Phe1514Cys)SNVPathogenicrs61750101GRCh37Chr 12, 6128043: 6128043
7VWFNM_000552.4(VWF): c.1648G> A (p.Gly550Arg)SNVPathogenicrs61754011GRCh37Chr 12, 6167096: 6167096
8VWFNM_000552.4(VWF): c.8317T> C (p.Cys2773Arg)SNVPathogenicrs61751310GRCh37Chr 12, 6058306: 6058306
9VWFVWF, 6-BP INS, NT1212insertionPathogenicChr na, -1: -1
10VWFNM_000552.4(VWF): c.1583A> G (p.Asn528Ser)SNVPathogenicrs61754010GRCh37Chr 12, 6167161: 6167161

Expression for genes affiliated with Type 2a Von Willebrand Disease

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

Pathways for genes affiliated with Type 2a Von Willebrand Disease

About this section

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

About this section

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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet