Isolated tracheo-esophageal fistula

Summary

Isolated tracheo-esophageal fistula (MONDO:0018694) is a disease and 10 clinical trials. A subtype of tracheal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 100 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 10
• Clinical trials: 10

Clinical features

Epidemiology

Prevalence records

4 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000	2.2	Worldwide	Validated
Prevalence at birth	1-9 / 100 000	2.2	Worldwide	Validated
Point prevalence	1-9 / 100 000	4.2	Australia	Validated
Prevalence at birth	1-9 / 100 000	4.2	Australia	Validated

Signs & symptoms

Clinical features (HPO)

10 HPO clinical features (Orphanet curated; top 10 by frequency):

HPO ID	Term	Frequency
HP:0006532	Recurrent pneumonia	Frequent (30-79%)
HP:0008872	Feeding difficulties in infancy	Frequent (30-79%)
HP:0030842	Choking episodes	Frequent (30-79%)
HP:0033362	Recurrent coughing spasms	Frequent (30-79%)
HP:0001508	Failure to thrive	Occasional (5-29%)
HP:0002020	Gastroesophageal reflux	Occasional (5-29%)
HP:0002098	Respiratory distress	Occasional (5-29%)
HP:0002788	Recurrent upper respiratory tract infections	Occasional (5-29%)
HP:0003270	Abdominal distention	Occasional (5-29%)
HP:0200048	Cyanotic episode	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	isolated tracheo-esophageal fistula
Mondo ID	MONDO:0018694
Orphanet	454750
NCIT	C35080
GARD	0021895
Is cancer (heuristic)	no

Also known as: H-type tracheoesophageal fistula · tracheo-esophageal fistula · tracheoesophageal fistula

Disease family

This is a subtype of tracheal 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 › respiratory system disorder › lower respiratory tract disorder › tracheal disorder › isolated tracheo-esophageal fistula

Related subtypes (7): tracheal calcification, tracheal stenosis, chronic obstructive pulmonary disease, tracheitis, laryngotracheoesophageal cleft, congenital tracheomalacia, trachea neoplasm

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: 10.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	8
PHASE4	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01153061	PHASE4	TERMINATED	Endoscopic Closure of Tracheoesophageal Fistulas With Occluder Device
NCT03792360	PHASE1	WITHDRAWN	Adipose Derived SVF for Aero-digestive & Enterocutaneous Fistulae
NCT03730454	Not specified	ACTIVE_NOT_RECRUITING	Transanastomotic Tube for Proximal Esophageal Atresia With Distal Tracheoesophageal Fistula Repair
NCT01287312	Not specified	UNKNOWN	Trichloroacetic Acid for Endoscopic Tracho-esophageal Fistula Repair
NCT02033772	Not specified	COMPLETED	Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery
NCT02364843	Not specified	TERMINATED	A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months
NCT03455881	Not specified	UNKNOWN	Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients
NCT04507295	Not specified	UNKNOWN	Cerebral Blood Flow in Neonates During Thoracoscopic Surgeries
NCT05150600	Not specified	COMPLETED	Inverse Ratio Ventilation in Neonatal Open Repair of Tracheoesophageal Fistula.
NCT05847101	Not specified	UNKNOWN	Outcome Predictors of Trachea-esophageal Fistula