Congenital esophageal diverticulum

Summary

Congenital esophageal diverticulum (MONDO:0019620) is a disease. A subtype of esophageal disorder — 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	congenital esophageal diverticulum
Mondo ID	MONDO:0019620
Orphanet	91358
ICD-10-CM	Q39.6
ICD-11	42183618
SNOMED CT	204667006
UMLS	C0266133
MedGen	539704
GARD	0019165
Is cancer (heuristic)	no

Also known as: congenital esophageal pouch

Disease family

This is a subtype of esophageal disorder. 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 › digestive system disorder › upper digestive tract disorder › esophageal disorder › congenital esophageal diverticulum

Related subtypes (19): esophageal atresia, esophageal varices, esophagitis, megaesophagus, esophageal tuberculosis, esophageal leukoplakia, dyskinesia of esophagus, esophageal diverticulosis, gastroesophageal reflux disease, esophageal atresia/tracheoesophageal fistula, achalasia, Barrett esophagus, esophageal duplication cyst, tubular duplication of the esophagus, laryngotracheoesophageal cleft, isolated tracheo-esophageal fistula, neoplasm of esophagus, esophageal ulcer, congenital esophageal 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.