Congenital pulmonary venous return anomaly

Summary

Congenital pulmonary venous return anomaly (MONDO:0017705) is a disease and 1 clinical trial. A subtype of congenital pulmonary veins anomaly — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital pulmonary venous return anomaly
Mondo ID	MONDO:0017705
Orphanet	3090
UMLS	C0265916
MedGen	539577
GARD	0004599
Is cancer (heuristic)	no

Also known as: anomalous pulmonary venous return · APVR · congenital pulmonary venous connection anomaly · pulmonary venous return anomaly · scimitar anomaly · scimitar syndrome · TAPVR · TAPVR1 · total anomalous pulmonary venous return

Data availability: 1 cell line.

Disease family

This is a subtype of congenital pulmonary veins anomaly. 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 › congenital pulmonary veins anomaly › congenital pulmonary venous return anomaly

Related subtypes (3): alveolar capillary dysplasia with misalignment of pulmonary veins, congenital alveolar dysplasia, alveolar capillary dysplasia without misalignment of pulmonary veins

Subtypes (3): congenital total pulmonary venous return anomaly, scimitar syndrome, congenital partial pulmonary venous return anomaly

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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04452188	Not specified	COMPLETED	Targeting Normoxia in Neonates With Cyanotic Congenital Heart Disease in the Intra-operative and Immediate Post-operative Period