MCID: CMP069
MIFTS: 21

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 59
Cavc-Ventricle Hypoplasia Syndrome 59

Classifications:



External Ids:

Orphanet 59 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 cavc-ventricle hypoplasia syndrome, is related to ebstein anomaly and atrial septal defect 4. An important gene associated with Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome is GATA4 (GATA Binding Protein 4), and among its related pathways/superpathways are Factors involved in megakaryocyte development and platelet production and Ectoderm Differentiation. Related phenotypes are cardiovascular system and embryo

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

MGI Mouse Phenotypes related to Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.26 CRELD1 GATA4 GATA6 NR2F2
2 embryo MP:0005380 8.92 CRELD1 GATA4 GATA6 NR2F2

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:

# Super pathways Score Top Affiliating Genes
1 11.45 GATA4 GATA6
2 11.31 GATA6 NR2F2
3 10.64 GATA4 GATA6
4 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:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.67 GATA4 GATA6 NR2F2
2 in utero embryonic development GO:0001701 9.56 GATA6 NR2F2
3 blood coagulation GO:0007596 9.55 GATA4 GATA6
4 positive regulation of angiogenesis GO:0045766 9.54 GATA4 GATA6
5 animal organ morphogenesis GO:0009887 9.52 GATA4 GATA6
6 male gonad development GO:0008584 9.51 GATA4 GATA6
7 cell fate commitment GO:0045165 9.48 GATA4 GATA6
8 cell development GO:0048468 9.46 GATA4 GATA6
9 digestive tract development GO:0048565 9.43 GATA4 GATA6
10 positive regulation of BMP signaling pathway GO:0030513 9.4 GATA4 GATA6
11 cardiac muscle cell differentiation GO:0055007 9.37 GATA4 GATA6
12 tissue development GO:0009888 9.32 GATA4 GATA6
13 anatomical structure formation involved in morphogenesis GO:0048646 9.26 GATA4 GATA6
14 endocardial cushion development GO:0003197 9.16 CRELD1 GATA4
15 intestinal epithelial cell differentiation GO:0060575 8.96 GATA4 GATA6
16 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:

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.5 GATA4 GATA6 NR2F2
2 zinc ion binding GO:0008270 9.33 GATA4 GATA6 NR2F2
3 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.26 GATA4 GATA6
4 sequence-specific DNA binding GO:0043565 9.13 GATA4 GATA6 NR2F2
5 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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