MCID: CMP070
MIFTS: 12

Complete Atrioventricular Canal-Left Heart Obstruction Syndrome

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Complete Atrioventricular Canal-Left Heart Obstruction Syndrome

MalaCards integrated aliases for Complete Atrioventricular Canal-Left Heart Obstruction Syndrome:

Name: Complete Atrioventricular Canal-Left Heart Obstruction Syndrome 58
Cavc-Left Heart Obstruction Syndrome 58

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q21.2
Orphanet 58 ORPHA99066

Summaries for Complete Atrioventricular Canal-Left Heart Obstruction Syndrome

MalaCards based summary : Complete Atrioventricular Canal-Left Heart Obstruction Syndrome, also known as cavc-left heart obstruction syndrome, is related to ventricular septal defect and diaphragm disease. An important gene associated with Complete Atrioventricular Canal-Left Heart Obstruction Syndrome is GATA4 (GATA Binding Protein 4). Affiliated tissues include heart, and related phenotype is embryo.

Related Diseases for Complete Atrioventricular Canal-Left Heart Obstruction Syndrome

Graphical network of the top 20 diseases related to Complete Atrioventricular Canal-Left Heart Obstruction Syndrome:



Diseases related to Complete Atrioventricular Canal-Left Heart Obstruction Syndrome

Symptoms & Phenotypes for Complete Atrioventricular Canal-Left Heart Obstruction Syndrome

MGI Mouse Phenotypes related to Complete Atrioventricular Canal-Left Heart Obstruction Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 8.8 CRELD1 GATA4 NR2F2

Drugs & Therapeutics for Complete Atrioventricular Canal-Left Heart Obstruction Syndrome

Search Clinical Trials , NIH Clinical Center for Complete Atrioventricular Canal-Left Heart Obstruction Syndrome

Genetic Tests for Complete Atrioventricular Canal-Left Heart Obstruction Syndrome

Anatomical Context for Complete Atrioventricular Canal-Left Heart Obstruction Syndrome

MalaCards organs/tissues related to Complete Atrioventricular Canal-Left Heart Obstruction Syndrome:

40
Heart

Publications for Complete Atrioventricular Canal-Left Heart Obstruction Syndrome

Variations for Complete Atrioventricular Canal-Left Heart Obstruction Syndrome

Expression for Complete Atrioventricular Canal-Left Heart Obstruction Syndrome

Search GEO for disease gene expression data for Complete Atrioventricular Canal-Left Heart Obstruction Syndrome.

Pathways for Complete Atrioventricular Canal-Left Heart Obstruction Syndrome

GO Terms for Complete Atrioventricular Canal-Left Heart Obstruction Syndrome

Biological processes related to Complete Atrioventricular Canal-Left Heart Obstruction Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endocardial cushion development GO:0003197 8.62 GATA4 CRELD1

Molecular functions related to Complete Atrioventricular Canal-Left Heart Obstruction Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.62 NR2F2 GATA4

Sources for Complete Atrioventricular Canal-Left Heart Obstruction Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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