Details of Disease

General Information of Disease (ID: DIS7FMIG)

Disease Name Conotruncal heart malformations
Synonyms
Double-outlet right ventricle; persistent truncus arteriosus; conotruncal cardiac defects; conotruncal anomaly face syndrome; CTHM; truncus arteriosus communis; interrupted aortic Arch; conotruncal heart malformations, variable; conotruncal heart malformations; Taussig-Bing syndrome or defect
Definition
Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).
Disease Hierarchy
DIS7LR56: Congenital heart malformation
DIS7FMIG: Conotruncal heart malformations
Disease Identifiers
MONDO ID
MONDO_0016581
MESH ID
C535464
UMLS CUI
C1857586
OMIM ID
217095
MedGen ID
341803
Orphanet ID
2445

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KCNJ4 TTXF0ZW Strong Genetic Variation [1]
SLC38A3 TTMAVJQ Strong Genetic Variation [2]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GATA6 OTO2BC0F Limited Autosomal recessive [3]
GDF1 OTZ1VRBH Limited Autosomal dominant [4]
NKX2-6 OTPPKGTE Moderate Autosomal recessive [3]
SLC22A10 OTUVJI3H Strong Genetic Variation [1]
NKX2-5 OTS1SAWM Definitive Semidominant [3]
TBX1 OTQLBPRA Definitive Autosomal dominant [3]
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⏷ Show the Full List of 6 DOT(s)

References

1 Genome-wide association study of maternal and inherited loci for conotruncal heart defects.PLoS One. 2014 May 6;9(5):e96057. doi: 10.1371/journal.pone.0096057. eCollection 2014.
2 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.Circ Cardiovasc Genet. 2017 Jun;10(3):e001449. doi: 10.1161/CIRCGENETICS.116.001449.
3 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
4 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.