Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy

Summary

Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy (MONDO:0018499) is a disease. A subtype of double outlet right ventricle — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
Mondo ID	MONDO:0018499
Orphanet	423712
UMLS	C5680071
MedGen	1842277
GARD	0021756
Is cancer (heuristic)	no

Also known as: DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy

Disease family

This is a subtype of double outlet right ventricle. 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 › heart disorder › congenital heart disease › heart septal defect › ventricular septal defect › double outlet right ventricle › double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy

Related subtypes (4): double outlet right ventricle with subaortic or doubly committed ventricular septal defect, double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis, double outlet right ventricle with subpulmonary ventricular septal defect, double outlet right ventricle with non-committed subpulmonary ventricular septal defect

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

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.