MCID: CMP104
MIFTS: 23

Complete Atrioventricular Septal Defect with Ventricular Hypoplasia

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Complete Atrioventricular Septal Defect with Ventricular...

MalaCards integrated aliases for Complete Atrioventricular Septal Defect with Ventricular Hypoplasia:

Name: Complete Atrioventricular Septal Defect with Ventricular Hypoplasia 58
Complete Atrioventricular Canal Defect with Ventricular Hypoplasia 58
Complete Atrioventricular Septal Defect with Ventricular Imbalance 58
Unbalanced Complete Atrioventricular Canal 58
Complete Avsd with Ventricular Hypoplasia 58
Cavc with Ventricular Hypoplasia 58

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q21.2
Orphanet 58 ORPHA99067

Summaries for Complete Atrioventricular Septal Defect with Ventricular...

MalaCards based summary : Complete Atrioventricular Septal Defect with Ventricular Hypoplasia, also known as complete atrioventricular canal defect with ventricular hypoplasia, is related to double outlet right ventricle and complete atrioventricular canal. An important gene associated with Complete Atrioventricular Septal Defect with Ventricular Hypoplasia 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 Septal Defect with Ventricular...

Diseases related to Complete Atrioventricular Septal Defect with Ventricular Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 double outlet right ventricle 29.8 GATA6 GATA4
2 complete atrioventricular canal 10.1
3 malignant childhood germ cell neoplasm 9.9 GATA6 GATA4
4 pulmonic stenosis 9.9 NR2F2 GATA4
5 hypogonadotropic hypogonadism 5 with or without anosmia 9.8 GATA6 GATA4
6 tricuspid atresia 9.8 GATA6 GATA4
7 pulmonary valve disease 9.8 GATA6 GATA4
8 pancreatic agenesis 9.8 GATA6 GATA4
9 germ cell and embryonal cancer 9.7 GATA6 GATA4
10 inguinal hernia 9.7 GATA6 GATA4
11 46,xy sex reversal 9.7 NR2F2 GATA4
12 total anomalous pulmonary venous return 1 9.7 GATA4 CRELD1
13 teratoma 9.7 GATA6 GATA4
14 dextro-looped transposition of the great arteries 9.6 GATA4 CRELD1
15 familial atrial fibrillation 9.5 GATA6 GATA4
16 ventricular septal defect 9.5 NR2F2 GATA6 GATA4
17 diaphragm disease 9.5 NR2F2 GATA6 GATA4
18 diaphragmatic hernia, congenital 9.5 NR2F2 GATA6 GATA4
19 complete atrioventricular septal defect-tetralogy of fallot 9.4 NR2F2 GATA4 CRELD1
20 holt-oram syndrome 9.3 GATA6 GATA4 CRELD1
21 patent ductus arteriosus 1 9.3 GATA6 GATA4 CRELD1
22 heart septal defect 9.3 GATA6 GATA4 CRELD1
23 hypoplastic left heart syndrome 9.2 GATA6 GATA4 CRELD1
24 atrial heart septal defect 9.2 GATA6 GATA4 CRELD1
25 patent foramen ovale 9.2 GATA6 GATA4 CRELD1
26 atrioventricular septal defect 8.9 NR2F2 GATA6 GATA4 CRELD1
27 partial atrioventricular canal 8.9 NR2F2 GATA6 GATA4 CRELD1
28 tetralogy of fallot 8.9 NR2F2 GATA6 GATA4 CRELD1
29 heart disease 8.8 GATA6 GATA4 CRELD1

Graphical network of the top 20 diseases related to Complete Atrioventricular Septal Defect with Ventricular Hypoplasia:



Diseases related to Complete Atrioventricular Septal Defect with Ventricular Hypoplasia

Symptoms & Phenotypes for Complete Atrioventricular Septal Defect with Ventricular...

MGI Mouse Phenotypes related to Complete Atrioventricular Septal Defect with Ventricular Hypoplasia:

45
# 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 Septal Defect with Ventricular...

Search Clinical Trials , NIH Clinical Center for Complete Atrioventricular Septal Defect with Ventricular Hypoplasia

Genetic Tests for Complete Atrioventricular Septal Defect with Ventricular...

Anatomical Context for Complete Atrioventricular Septal Defect with Ventricular...

MalaCards organs/tissues related to Complete Atrioventricular Septal Defect with Ventricular Hypoplasia:

40
Heart

Publications for Complete Atrioventricular Septal Defect with Ventricular...

Articles related to Complete Atrioventricular Septal Defect with Ventricular Hypoplasia:

# Title Authors PMID Year
1
Rare Occurrence of Absent Pulmonary Valve Syndrome in the Setting of Double-Outlet Right Ventricle with Unbalanced Complete Atrioventricular Canal Defect. 61
31049480 2019
2
Major Aortopulmonary Collateral Arteries With Anatomy Other Than Pulmonary Atresia/Ventricular Septal Defect. 61
28527961 2017
3
Outcomes of total cavopulmonary connection for single ventricle palliation. 61
26904211 2016
4
Impact of pharmacotherapy on interstage outcomes in single ventricle infants. 61
21696551 2011
5
Biventricular repair in patients with heterotaxy syndrome. 61
19185155 2009
6
Results of Norwood stage I operation: comparison of hypoplastic left heart syndrome with other malformations. 61
10649212 2000
7
Double-outlet right ventricle with complete atrioventricular canal. 61
9768963 1998

Variations for Complete Atrioventricular Septal Defect with Ventricular...

Expression for Complete Atrioventricular Septal Defect with Ventricular...

Search GEO for disease gene expression data for Complete Atrioventricular Septal Defect with Ventricular Hypoplasia.

Pathways for Complete Atrioventricular Septal Defect with Ventricular...

Pathways related to Complete Atrioventricular Septal Defect with Ventricular Hypoplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.52 GATA6 GATA4
2 11.42 NR2F2 GATA6
3 10.78 GATA6 GATA4
4 10.64 GATA6 GATA4
5 10.29 GATA6 GATA4

GO Terms for Complete Atrioventricular Septal Defect with Ventricular...

Biological processes related to Complete Atrioventricular Septal Defect with Ventricular Hypoplasia according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.58 NR2F2 GATA6 GATA4
2 in utero embryonic development GO:0001701 9.49 NR2F2 GATA6
3 blood coagulation GO:0007596 9.48 GATA6 GATA4
4 positive regulation of angiogenesis GO:0045766 9.46 GATA6 GATA4
5 male gonad development GO:0008584 9.43 GATA6 GATA4
6 cell fate commitment GO:0045165 9.37 GATA6 GATA4
7 cardiac muscle cell differentiation GO:0055007 9.32 GATA6 GATA4
8 cardiac muscle tissue development GO:0048738 9.26 GATA6 GATA4
9 endocardial cushion development GO:0003197 9.16 GATA4 CRELD1
10 intestinal epithelial cell differentiation GO:0060575 8.96 GATA6 GATA4
11 positive regulation of cardioblast differentiation GO:0051891 8.62 GATA6 GATA4

Molecular functions related to Complete Atrioventricular Septal Defect with Ventricular Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.43 NR2F2 GATA6 GATA4
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.33 NR2F2 GATA6 GATA4
3 zinc ion binding GO:0008270 9.13 NR2F2 GATA6 GATA4
4 sequence-specific DNA binding GO:0043565 8.8 NR2F2 GATA6 GATA4

Sources for Complete Atrioventricular Septal Defect with Ventricular...

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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