Supravalvular pulmonary stenosis

Summary

Supravalvular pulmonary stenosis (MONDO:0017870) is a disease. A subtype of congenital pulmonary valve stenosis — 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	supravalvular pulmonary stenosis
Mondo ID	MONDO:0017870
Orphanet	3192
UMLS	C3280212
MedGen	481842
GARD	0004594
Is cancer (heuristic)	no

Also known as: pulmonary supravalvular stenosis

Disease family

This is a subtype of congenital pulmonary valve stenosis. 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 › congenital pulmonary valve stenosis › supravalvular pulmonary stenosis

Related subtypes (3): pulmonic stenosis, subpulmonary stenosis, valvar pulmonary 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.