Congenital lobar emphysema
diseaseOn this page
Also known as CLEcongenital lobar hyperinflationEmphysema, Congenital Lobarinfantile lobar hyperinflation
Summary
Congenital lobar emphysema (MONDO:0007536) is a disease and 2 clinical trials. A subtype of pulmonary emphysema — 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): 13
- Clinical trials: 2
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | Worldwide | Validated | |
| Prevalence at birth | 1-9 / 100 000 | 4 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
13 HPO clinical features (Orphanet curated; top 13 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002097 | Emphysema | Very frequent (80-99%) |
| HP:0002098 | Respiratory distress | Very frequent (80-99%) |
| HP:0000961 | Cyanosis | Frequent (30-79%) |
| HP:0001649 | Tachycardia | Frequent (30-79%) |
| HP:0002094 | Dyspnea | Frequent (30-79%) |
| HP:0010978 | Abnormality of immune system physiology | Frequent (30-79%) |
| HP:0030828 | Wheezing | Frequent (30-79%) |
| HP:6000012 | Mediastinal shift | Frequent (30-79%) |
| HP:0001508 | Failure to thrive | Occasional (5-29%) |
| HP:0001555 | Asymmetry of the thorax | Occasional (5-29%) |
| HP:0011968 | Feeding difficulties | Occasional (5-29%) |
| HP:0030680 | Abnormal cardiovascular system morphology | Occasional (5-29%) |
| HP:0100750 | Atelectasis | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | congenital lobar emphysema |
| Mondo ID | MONDO:0007536 |
| MeSH | C535735 |
| OMIM | 130710 |
| Orphanet | 1928 |
| ICD-11 | 685349915 |
| NCIT | C98895 |
| SNOMED CT | 66987001 |
| UMLS | C0265797 |
| MedGen | 120557 |
| GARD | 0002104 |
| MedDRA | 10010456 |
| NORD | 1085 |
| Is cancer (heuristic) | no |
Also known as: CLE · congenital lobar hyperinflation · Emphysema, Congenital Lobar · emphysema, congenital lobar · infantile lobar hyperinflation
Disease family
This is a subtype of pulmonary emphysema. 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 › lung disorder › obstructive lung disease › chronic obstructive pulmonary disease › pulmonary emphysema › congenital lobar emphysema
Related subtypes (4): interstitial emphysema, compensatory emphysema, hyperlucent lung, emphysema, hereditary pulmonary
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: 2.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE2 | 1 |
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT07260877 | PHASE2 | RECRUITING | A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Phase 2a Study With an Open-Label Extension Evaluating the Efficacy and Safety of VENT-03 in Adult Participants With Active Cutaneous Lupus Erythematosus With or Without Systemic Lupus Erythematosus |
| NCT05273593 | Not specified | COMPLETED | Confocal Laser Endomicroscopy During TransUrethral Resection for Improving BC Diagnosis and Treatment |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.