Congenital tricuspid stenosis

Summary

Congenital tricuspid stenosis (MONDO:0019813) is a disease. A subtype of congenital tricuspid malformation — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Phenotypes (HPO): 9

Clinical features

Signs & symptoms

Clinical features (HPO)

9 HPO clinical features (Orphanet curated; top 9 by frequency):

HPO ID	Term	Frequency
HP:0010446	Tricuspid stenosis	Obligate (100%)
HP:0030148	Heart murmur	Very frequent (80-99%)
HP:0005180	Tricuspid regurgitation	Frequent (30-79%)
HP:0001635	Congestive heart failure	Occasional (5-29%)
HP:0002092	Pulmonary arterial hypertension	Occasional (5-29%)
HP:0002615	Hypotension	Occasional (5-29%)
HP:0001370	Rheumatoid arthritis	Excluded (0%)
HP:0006689	Bacterial endocarditis	Excluded (0%)
HP:0100570	Carcinoid tumor	Excluded (0%)

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital tricuspid stenosis
Mondo ID	MONDO:0019813
Orphanet	95459
ICD-10-CM	Q22.4
ICD-11	1996822362
SNOMED CT	36233006
UMLS	C0265836
MedGen	539527
GARD	0019262
MedDRA	10010656
Is cancer (heuristic)	no

Disease family

This is a subtype of congenital tricuspid malformation. 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 › tricuspid valve disorder › congenital tricuspid malformation › congenital tricuspid stenosis

Related subtypes (9): tricuspid valve prolapse, Ebstein anomaly, cardiac valvular dysplasia, X-linked, tricuspid atresia, tricuspid valve agenesis, straddling or overriding tricuspid valve, accessory tricuspid valve tissue, anomaly of the tricuspid valve chordae, parachute tricuspid valve

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.