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congenital lobar emphysema (CLE) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital lobar emphysema

MONDO:0007536

Also known as:CLEEmphysema, Congenital Lobarcongenital lobar hyperinflation

Overview

Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.

GeneticsAutosomal dominant

Clinical Presentation

Features include: Bronchial cartilage hypoplasia and Respiratory distress.

Organ System	Phenotype Count	Example Features
Lungs and breathing	2	Bronchial cartilage hypoplasia, Respiratory distress

Explore clinical features

Diagnosis

Biomarker and diagnostic research for congenital lobar emphysema has been reported in the published literature.

Prognosis

Estimated prevalence: 1-9 in 100,000 (Uncommon).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for congenital lobar emphysema.

33 publications have been identified in PubMed for congenital lobar emphysema. Research spans Case Report / Case Series (58%), Epidemiology / Natural History (18%), and Diagnostic / Biomarker (9%).

Research Type	Count	% of Total
Patient case studies	19	58%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 2:46 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:130710

Orphanet

European rare disease database

Orphanet:1928

GARD

Genetic and Rare Diseases Info Center

GARD:2104

Questions for Your Care Team

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congenital lobar emphysema

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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