Congenital anomaly of the great arteries

Summary

Congenital anomaly of the great arteries (MONDO:0020292) is a disease (an umbrella term covering 15 Mondo subtypes) with 1 GWAS associations across 5 studies. A subtype of congenital heart malformation — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 15 Mondo subtypes
• GWAS associations: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital anomaly of the great arteries
Mondo ID	MONDO:0020292
Orphanet	98724
UMLS	C0948632
MedGen	798768
GARD	0019556
MedDRA	10061080
Is cancer (heuristic)	no

Also known as: congenital aorta, aortic arch or pulmonary arteries anomaly

Data availability: 1 GWAS association (5 studies).

Disease family

This is a subtype of congenital heart malformation. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › congenital anomaly of cardiovascular system › congenital heart malformation › congenital anomaly of the great arteries

Related subtypes (25): transposition of the great arteries, congenital left-sided heart lesions, interventricular septum aneurysm, congenital heart defects, multiple types, 2, coronary artery congenital malformation, criss-cross heart, triatrial heart, familial idiopathic dilatation of the right atrium, cardiac diverticulum, conotruncal heart malformations, congenital mitral malformation, congenital pericardium anomaly, ectopia cordis, visceral heterotaxy, mesocardia, univentricular cardiopathy, Laubry-Pezzi syndrome, congenital Gerbode defect, juxtaposition of the atrial appendages, ectasia of the right atrial appendage, ectasia of the left appendage, atrial septal aneurysm, congenital acardia, congenital right-sided heart lesions, congenital heart defects, multiple types, 1, X-linked

Subtypes (15): aortic arch interruption, aortic arch defects, idiopathic pulmonary artery dilatation, scimitar syndrome, fixed subaortic stenosis, congenital pulmonary veins atresia or stenosis, congenital pulmonary valve stenosis, aorto-ventricular tunnel, aneurysm or dilatation of ascending aorta, premature closure of the arterial duct, absence of the pulmonary artery, congenital patent ductus arteriosus aneurysm, pulmonary artery hypoplasia, pulmonary branch stenosis, primary pulmonary vein stenosis

Genetics & variants

GWAS landscape

1 GWAS associations across 5 studies. Top hits map to 0 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
chr17:57813495	3e-07		?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90436748	Zhou W	2018	1,799	406,165	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90044604	Jiang L	2021	919	455,429	A generalized linear mixed model association tool for biobank-scale data.
GCST90652043	Liu TY	2025	468	234,318	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90482448	Verma A	2024	367	450,140	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90474263	UK Biobank Whole-Genome Sequencing Consortium	2025	261	458,179	Whole-genome sequencing of 490,640 UK Biobank participants.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	1

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
unknown	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
chr17:57813495							3e-07	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.