Bronchogenic cyst

Summary

Bronchogenic cyst (MONDO:0016523) is a disease and 1 clinical trial. Top therapeutic interventions include ropivacaine. A subtype of respiratory system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• ClinVar variants: 1
• Phenotypes (HPO): 33
• Clinical trials: 1

Clinical features

Signs & symptoms

Clinical features (HPO)

33 HPO clinical features (Orphanet curated; top 33 by frequency):

HPO ID	Term	Frequency
HP:0100730	Bronchogenic cyst	Obligate (100%)
HP:0031983	Abnormal pulmonary thoracic imaging finding	Frequent (30-79%)
HP:0045026	Abnormality of the mediastinum	Frequent (30-79%)
HP:0001945	Fever	Occasional (5-29%)
HP:0002031	Abnormal esophagus morphology	Occasional (5-29%)
HP:0002090	Pneumonia	Occasional (5-29%)
HP:0002094	Dyspnea	Occasional (5-29%)
HP:0003319	Abnormality of the cervical spine	Occasional (5-29%)
HP:0012735	Cough	Occasional (5-29%)
HP:0031035	Chronic infection	Occasional (5-29%)
HP:0032016	Abnormal sputum	Occasional (5-29%)
HP:0032445	Pulmonary cyst	Occasional (5-29%)
HP:0100749	Chest pain	Occasional (5-29%)
HP:0000464	Abnormality of the neck	Very rare (<1-4%)
HP:0000775	Abnormality of the diaphragm	Very rare (<1-4%)
HP:0001324	Muscle weakness	Very rare (<1-4%)
HP:0001637	Abnormal myocardium morphology	Very rare (<1-4%)
HP:0001697	Abnormal pericardium morphology	Very rare (<1-4%)
HP:0002015	Dysphagia	Very rare (<1-4%)
HP:0002027	Abdominal pain	Very rare (<1-4%)
HP:0002103	Abnormality of the pleura	Very rare (<1-4%)
HP:0002105	Hemoptysis	Very rare (<1-4%)
HP:0002315	Headache	Very rare (<1-4%)
HP:0002577	Abnormal stomach morphology	Very rare (<1-4%)
HP:0002585	Abnormality of the peritoneum	Very rare (<1-4%)
HP:0002699	Abnormality of the foramen magnum	Very rare (<1-4%)
HP:0003396	Syringomyelia	Very rare (<1-4%)
HP:0003401	Paresthesia	Very rare (<1-4%)
HP:0003418	Back pain	Very rare (<1-4%)
HP:0010766	Ectopic calcification	Very rare (<1-4%)
HP:0030833	Neck pain	Very rare (<1-4%)
HP:0100712	Abnormal lumbar spine morphology	Very rare (<1-4%)
HP:0100750	Atelectasis	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	bronchogenic cyst
Mondo ID	MONDO:0016523
MeSH	D001994
Orphanet	2357
ICD-11	355400995
UMLS	C0006281
MedGen	668
GARD	0001025
MedDRA	10064585
Is cancer (heuristic)	no

Also known as: bronchogenic cyst · bronchogenic cyst (disease)

Data availability: 1 ClinVar variant · 1 HPO phenotype.

Disease family

This is a subtype of respiratory system 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 › bronchogenic cyst

Related subtypes (58): lower respiratory tract disorder, respiratory system cancer, respiratory system benign neoplasm, allergic respiratory disease, paranasal sinus disorder, upper respiratory tract disorder, pertussis, severe acute respiratory syndrome, sleep apnea syndrome, diaphragm disorder, pulmonary tuberculosis, altitude sickness, perinatal asphyxia, pulmonary nodular lymphoid hyperplasia, tracheobronchopathia osteochondroplastica, Williams-Campbell syndrome, cystic fibrosis, growth delay-hydrocephaly-lung hypoplasia syndrome, laryngo-onycho-cutaneous syndrome, congenital pulmonary lymphangiectasia, familial primary pulmonary hypoplasia, Mounier-Kuhn syndrome, Young syndrome, lung agenesis-heart defect-thumb anomalies syndrome, sudden infant death-dysgenesis of the testes syndrome, alpha 1-antitrypsin deficiency, hereditary sclerosing poikiloderma with tendon and pulmonary involvement, autoimmune interstitial lung disease-arthritis syndrome, mucopolysaccharidosis-plus syndrome, congenital bronchobiliary fistula, primary ciliary dyskinesia, congenital pulmonary airway malformation, transient hyperammonemia of the newborn, congenital pulmonary sequestration, Siegler-Brewer-Carey syndrome, tracheal agenesis, 16q24.1 microdeletion syndrome, staphylococcal necrotizing pneumonia, pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis, plastic bronchitis, recurrent respiratory papillomatosis, IgG4-related mediastinitis, bronchopulmonary dysplasia, infantile apnea, diffuse alveolar hemorrhage, respiratory or thoracic malformation, pulmonary agenesis, eosinophilic granuloma, disorder of pharynx, respiratory tract neoplasm, pulmonary alveolar proteinosis with hypogammaglobulinemia, respiratory tract infectious disorder, Middle East respiratory syndrome, reactive airway disease, acinar dysplasia, pulmonary hypoplasia, isolated left bronchial isomerism, bronchiectasis and nasal polyposis

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

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
267908	46;XY;t(3;18)(q13.2;q11.2)dn		Uncertain significance	criteria provided, single submitter

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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06498583	Not specified	COMPLETED	Effect of Ultrasound-guided Erector Spinae Plane Block on Postoperative Pain and Sleep Quality of Infants With Congenital Pulmonary Cystic Disease After Thoracoscopic Surgery

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ROPIVACAINE	4	1