MCID: TYP014
MIFTS: 20

Type 2a Von Willebrand Disease malady

Categories: Genetic diseases

Aliases & Classifications for Type 2a Von Willebrand Disease

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 69

Classifications:



Summaries for Type 2a Von Willebrand Disease

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/superpathways is Angiogenesis (CST). The drugs Natriuretic Agents and Coagulants have been mentioned in the context of this disorder. Related phenotype is Decreased NANOG protein expression.

Related Diseases for Type 2a Von Willebrand Disease

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

id Related Disease Score Top Affiliating Genes
1 von willebrand disease, types 2a, 2b, 2m, and 2n 11.5
2 myocardial infarction 9.9
3 leukemia 9.9
4 chronic myelocytic leukemia 9.9
5 vapb-related amyotrophic lateral sclerosis 9.8 ADAMTS1 VWF

Graphical network of the top 20 diseases related to Type 2a Von Willebrand Disease:



Diseases related to Type 2a Von Willebrand Disease

Symptoms & Phenotypes for Type 2a Von Willebrand Disease

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased NANOG protein expression GR00184-A-3 9.85 ADAMTS1
2 Decreased NANOG protein expression GR00184-A-6 9.85 ADAMTS1 VWF
3 Decreased NANOG protein expression GR00184-A-8 9.85 ADAMTS1 VWF
4 Decreased OCT4 protein expression GR00184-A-2 9.65 ADAMTS1
5 Decreased OCT4 protein expression GR00184-A-5 9.65 ADAMTS1 VWF
6 Decreased OCT4 protein expression GR00184-A-7 9.65 ADAMTS1 VWF
7 Decreased POU5F1-GFP protein expression GR00184-A-1 9.23 ADAMTS1 VWF
8 Decreased POU5F1-GFP protein expression GR00184-A-4 9.23 ADAMTS1 VWF

Drugs & Therapeutics for Type 2a Von Willebrand Disease

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

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Natriuretic Agents Phase 4
2 Coagulants Phase 4
3 Hemostatics Phase 4
4 Deamino Arginine Vasopressin Phase 4
5 Vasopressins Phase 4
6 Arginine Vasopressin Phase 4
7 arginine Nutraceutical Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase
1 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4

Search NIH Clinical Center for Type 2a Von Willebrand Disease

Genetic Tests for Type 2a Von Willebrand Disease

Genetic tests related to Type 2a Von Willebrand Disease:

id Genetic test Affiliating Genes
1 Type 2a Von Willebrand Disease 24

Anatomical Context for Type 2a Von Willebrand Disease

Publications for Type 2a Von Willebrand Disease

Articles related to Type 2a Von Willebrand Disease:

(show all 21)
id Title Authors Year
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

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 VWF NM_000552.4(VWF): c.4883T> C (p.Ile1628Thr) single nucleotide variant Pathogenic rs61750584 GRCh37 Chromosome 12, 6127701: 6127701
2 VWF NM_000552.4(VWF): c.4789C> T (p.Arg1597Trp) single nucleotide variant Pathogenic rs61750117 GRCh37 Chromosome 12, 6127795: 6127795
3 VWF NM_000552.4(VWF): c.4820T> A (p.Val1607Asp) single nucleotide variant Pathogenic rs61750579 GRCh37 Chromosome 12, 6127764: 6127764
4 VWF NM_000552.4(VWF): c.4837T> C (p.Ser1613Pro) single nucleotide variant Pathogenic rs61750581 GRCh37 Chromosome 12, 6127747: 6127747
5 VWF NM_000552.4(VWF): c.3814T> C (p.Cys1272Arg) single nucleotide variant Pathogenic rs61749372 GRCh37 Chromosome 12, 6128770: 6128770
6 VWF NM_000552.4(VWF): c.4541T> G (p.Phe1514Cys) single nucleotide variant Pathogenic rs61750101 GRCh37 Chromosome 12, 6128043: 6128043
7 VWF NM_000552.4(VWF): c.1648G> A (p.Gly550Arg) single nucleotide variant Pathogenic rs61754011 GRCh37 Chromosome 12, 6167096: 6167096
8 VWF NM_000552.4(VWF): c.8317T> C (p.Cys2773Arg) single nucleotide variant Pathogenic rs61751310 GRCh37 Chromosome 12, 6058306: 6058306
9 VWF VWF, 6-BP INS, NT1212 insertion Pathogenic
10 VWF NM_000552.4(VWF): c.1583A> G (p.Asn528Ser) single nucleotide variant Pathogenic rs61754010 GRCh37 Chromosome 12, 6167161: 6167161

Expression for Type 2a Von Willebrand Disease

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

Pathways for Type 2a Von Willebrand Disease

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

id Super pathways Score Top Affiliating Genes
1 10.56 ADAMTS1 VWF

GO Terms for Type 2a Von Willebrand Disease

Cellular components related to Type 2a Von Willebrand Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 8.96 ADAMTS1 VWF
2 extracellular matrix GO:0031012 8.62 ADAMTS1 VWF

Sources for Type 2a Von Willebrand Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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