Congenital mitral valve insufficiency and/or stenosis

Summary

Congenital mitral valve insufficiency and/or stenosis (MONDO:0019817) is a disease (an umbrella term covering 10 Mondo subtypes). A subtype of congenital mitral malformation — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 10 Mondo subtypes

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital mitral valve insufficiency and/or stenosis
Mondo ID	MONDO:0019817
Orphanet	95464
ICD-10-CM	Q23
UMLS	C5681577
MedGen	1842574
GARD	0019266
Is cancer (heuristic)	no

Disease family

An umbrella term covering 10 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › congenital anomaly of cardiovascular system › congenital heart malformation › congenital mitral malformation › congenital mitral valve insufficiency and/or stenosis

Related subtypes (1): cleft mitral valve

Subtypes (10): familial mitral valve prolapse, congenital anomaly of the mitral subvalvular apparatus, mitral atresia disorder, congenital mitral stenosis, congenital hypoplasia of the mitral valve annulus, congenital supravalvular mitral ring, congenital unguarded mitral orifice, congenital accessory mitral valve tissue, congenital mitral valve agenesis, shone complex

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.