MCID: CMP103
MIFTS: 14

Complete Atrioventricular Septal Defect-Tetralogy of Fallot

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Complete Atrioventricular Septal Defect-Tetralogy of Fallot

MalaCards integrated aliases for Complete Atrioventricular Septal Defect-Tetralogy of Fallot:

Name: Complete Atrioventricular Septal Defect-Tetralogy of Fallot 58
Complete Atrioventricular Canal Defect-Tetralogy of Fallot 58
Complete Avsd-Tetralogy of Fallot 58
Cavc-Tetralogy of Fallot 58

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q21.2
Orphanet 58 ORPHA99068

Summaries for Complete Atrioventricular Septal Defect-Tetralogy of Fallot

MalaCards based summary : Complete Atrioventricular Septal Defect-Tetralogy of Fallot, also known as complete atrioventricular canal defect-tetralogy of fallot, is related to ventricular septal defect and pulmonic stenosis. An important gene associated with Complete Atrioventricular Septal Defect-Tetralogy of Fallot is GATA4 (GATA Binding Protein 4). Affiliated tissues include heart, and related phenotype is embryo.

Related Diseases for Complete Atrioventricular Septal Defect-Tetralogy of Fallot

Graphical network of the top 20 diseases related to Complete Atrioventricular Septal Defect-Tetralogy of Fallot:



Diseases related to Complete Atrioventricular Septal Defect-Tetralogy of Fallot

Symptoms & Phenotypes for Complete Atrioventricular Septal Defect-Tetralogy of Fallot

MGI Mouse Phenotypes related to Complete Atrioventricular Septal Defect-Tetralogy of Fallot:

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

Drugs & Therapeutics for Complete Atrioventricular Septal Defect-Tetralogy of Fallot

Search Clinical Trials , NIH Clinical Center for Complete Atrioventricular Septal Defect-Tetralogy of Fallot

Genetic Tests for Complete Atrioventricular Septal Defect-Tetralogy of Fallot

Anatomical Context for Complete Atrioventricular Septal Defect-Tetralogy of Fallot

MalaCards organs/tissues related to Complete Atrioventricular Septal Defect-Tetralogy of Fallot:

40
Heart

Publications for Complete Atrioventricular Septal Defect-Tetralogy of Fallot

Articles related to Complete Atrioventricular Septal Defect-Tetralogy of Fallot:

# Title Authors PMID Year
1
The Pediatric Heart Network Residual Lesion Score Study: Design and objectives. 61
31870553 2020
2
Results with the freestyle porcine aortic root for right ventricular outflow tract reconstruction in children. 61
14667606 2003

Variations for Complete Atrioventricular Septal Defect-Tetralogy of Fallot

Expression for Complete Atrioventricular Septal Defect-Tetralogy of Fallot

Search GEO for disease gene expression data for Complete Atrioventricular Septal Defect-Tetralogy of Fallot.

Pathways for Complete Atrioventricular Septal Defect-Tetralogy of Fallot

GO Terms for Complete Atrioventricular Septal Defect-Tetralogy of Fallot

Biological processes related to Complete Atrioventricular Septal Defect-Tetralogy of Fallot 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 Septal Defect-Tetralogy of Fallot 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 Septal Defect-Tetralogy of Fallot

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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