MCID: CMP069
MIFTS: 22

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 60
Cavc-Ventricle Hypoplasia Syndrome 60

Classifications:



External Ids:

ICD10 via Orphanet 35 Q21.2
Orphanet 60 ORPHA99067

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 diaphragm disease and donnai-barrow syndrome. 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. Affiliated tissues include heart, and 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:

47
# 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

MalaCards organs/tissues related to Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome:

42
Heart

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 11.52 GATA4 GATA6
2 11.42 GATA6 NR2F2
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:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.54 GATA4 GATA6 NR2F2
2 in utero embryonic development GO:0001701 9.48 GATA6 NR2F2
3 blood coagulation GO:0007596 9.46 GATA4 GATA6
4 positive regulation of angiogenesis GO:0045766 9.43 GATA4 GATA6
5 male gonad development GO:0008584 9.4 GATA4 GATA6
6 cardiac muscle cell differentiation GO:0055007 9.26 GATA4 GATA6
7 endocardial cushion development GO:0003197 9.16 CRELD1 GATA4
8 positive regulation of BMP signaling pathway GO:0030513 9.02 GATA4
9 intestinal epithelial cell differentiation GO:0060575 8.96 GATA4 GATA6
10 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 9.43 GATA4 GATA6 NR2F2
2 zinc ion binding GO:0008270 9.33 GATA4 GATA6 NR2F2
3 transcription regulatory region DNA binding GO:0044212 9.32 GATA4 GATA6
4 sequence-specific DNA binding GO:0043565 9.13 GATA4 GATA6 NR2F2
5 enhancer sequence-specific DNA binding GO:0001158 8.32 GATA4

Sources for Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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