Pulmonary artery hypoplasia

Summary

Pulmonary artery hypoplasia (MONDO:0020419) is a disease. A subtype of congenital anomaly of the great arteries — 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	pulmonary artery hypoplasia
Mondo ID	MONDO:0020419
Orphanet	99083
SNOMED CT	54682008
UMLS	C0265910
MedGen	75585
GARD	0019642
Is cancer (heuristic)	no

Also known as: pulmonary artery hypoplasia · pulmonary artery hypoplasia (disease)

Data availability: 1 HPO phenotype.

Disease family

This is a subtype of congenital anomaly of the great arteries. 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 › pulmonary artery hypoplasia

Related subtypes (14): 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 branch stenosis, primary pulmonary vein stenosis

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.