MCID: CMP069
MIFTS: 19

Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome

MalaCards integrated aliases for Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome:

Name: Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome 56
Complete Atrioventricular Canal Type B 56
Cavc-Ventricle Hypoplasia Syndrome 56
Cavc Type B 56

Classifications:



External Ids:

Orphanet 56 ORPHA99067
ICD10 via Orphanet 34 Q21.2

Summaries for Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome

MalaCards based summary : Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome, also known as complete atrioventricular canal type b, is related to complete atrioventricular canal-left heart obstruction syndrome and persistent eustachian valve. An important gene associated with Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome is GATA4 (GATA Binding Protein 4), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Factors involved in megakaryocyte development and platelet production.

Related Diseases for Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome

Graphical network of the top 20 diseases related to Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome:



Diseases related to Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome

Symptoms & Phenotypes for Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome

Drugs & Therapeutics for Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome

Search Clinical Trials , NIH Clinical Center for Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome

Genetic Tests for Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome

Anatomical Context for Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome

Publications for Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome

Variations for Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome

Expression for Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome

Search GEO for disease gene expression data for Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome.

Pathways for Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome

Pathways related to Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.8 GATA4 GATA6
2 11.45 GATA4 GATA6
3 10.78 GATA4 GATA6
4 10.64 GATA4 GATA6
5 10.29 GATA4 GATA6

GO Terms for Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome

Biological processes related to Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.46 GATA4 GATA6
2 blood coagulation GO:0007596 9.43 GATA4 GATA6
3 positive regulation of angiogenesis GO:0045766 9.4 GATA4 GATA6
4 male gonad development GO:0008584 9.37 GATA4 GATA6
5 positive regulation of BMP signaling pathway GO:0030513 9.32 GATA4 GATA6
6 cardiac muscle cell differentiation GO:0055007 9.26 GATA4 GATA6
7 endocardial cushion development GO:0003197 9.16 CRELD1 GATA4
8 intestinal epithelial cell differentiation GO:0060575 8.96 GATA4 GATA6
9 positive regulation of cardioblast differentiation GO:0051891 8.62 GATA4 GATA6

Molecular functions related to Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.37 GATA4 GATA6
2 transcription regulatory region DNA binding GO:0044212 9.32 GATA4 GATA6
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.26 GATA4 GATA6
4 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.16 GATA4 GATA6
5 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 8.96 GATA4 GATA6
6 RNA polymerase II transcription factor binding GO:0001085 8.62 GATA4 GATA6

Sources for Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome

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
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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