Atrioventricular septal defect

Summary

Atrioventricular septal defect (MONDO:0859565) is a disease and 3 clinical trials. Top therapeutic interventions include l-citrulline and plasmalyte a. A subtype of familial atrioventricular septal defect — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	atrioventricular septal defect
Mondo ID	MONDO:0859565
OMIM	606215
UMLS	C1389018
MedGen	501123
GARD	0026743
Is cancer (heuristic)	no

Data availability: 3 cell lines.

Disease family

This is a subtype of familial atrioventricular septal defect. 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 › familial atrioventricular septal defect › atrioventricular septal defect

Related subtypes (5): atrioventricular septal defect 4, atrioventricular septal defect 5, congenital heart defects, multiple types, 4, complete atrioventricular canal, partial atrioventricular canal

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: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE3	1
PHASE1/PHASE2	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05253209	PHASE3	TERMINATED	A Study Evaluating the Efficacy and Safety of IV L-Citrulline for the Prevention of Clinical Sequelae of Acute Lung Injury Induced by Cardiopulmonary Bypass in Pediatric Patients Undergoing Surgery for Congenital Heart Defects
NCT01120964	PHASE1/PHASE2	COMPLETED	Intravenous L-Citrulline to Treat Children Undergoing Heart Bypass Surgery : Revised Protocol
NCT01825369	PHASE1	WITHDRAWN	Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
L-CITRULLINE	3	2
PLASMALYTE A	3	1