Congenital aortic valve stenosis

Summary

Congenital aortic valve stenosis (MONDO:0017735) is a disease. A subtype of aortic valve stenosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Phenotypes (HPO): 17

Clinical features

Signs & symptoms

Clinical features (HPO)

17 HPO clinical features (Orphanet curated; top 17 by frequency):

HPO ID	Term	Frequency
HP:0001650	Aortic valve stenosis	Obligate (100%)
HP:0002875	Exertional dyspnea	Very frequent (80-99%)
HP:0030148	Heart murmur	Very frequent (80-99%)
HP:0001712	Left ventricular hypertrophy	Frequent (30-79%)
HP:0004380	Aortic valve calcification	Frequent (30-79%)
HP:0005135	Abnormal T-wave	Frequent (30-79%)
HP:0005176	Dysplastic aortic valve	Frequent (30-79%)
HP:0010883	Aortic valve atresia	Frequent (30-79%)
HP:0025075	Increased QRS voltage	Frequent (30-79%)
HP:0001681	Angina pectoris	Occasional (5-29%)
HP:0001706	Endocardial fibroelastosis	Occasional (5-29%)
HP:0005162	Abnormal left ventricular function	Occasional (5-29%)
HP:0012664	Reduced left ventricular ejection fraction	Occasional (5-29%)
HP:0030850	Abnormal pulse pressure	Occasional (5-29%)
HP:0100584	Endocarditis	Occasional (5-29%)
HP:0001645	Sudden cardiac death	Very rare (<1-4%)
HP:0012727	Thoracic aortic aneurysm	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital aortic valve stenosis
Mondo ID	MONDO:0017735
Orphanet	3093
ICD-11	1824398514
SNOMED CT	18546004
UMLS	C0152417
MedGen	509030
GARD	0018786
MedDRA	10010371
Is cancer (heuristic)	no

Disease family

This is a subtype of aortic 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 › heart disorder › heart valve disorder › aortic valve disorder › aortic valve stenosis › congenital aortic valve stenosis

Related subtypes (3): subvalvular aortic stenosis, supravalvular aortic stenosis, childhood aortic valve stenosis

Subtypes (2): aortic valve dysplasia, aortic valve atresia

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.