Congenital pulmonary airway malformation

Summary

Congenital pulmonary airway malformation (MONDO:0016580) is a disease (an umbrella term covering 5 Mondo subtypes) and 5 clinical trials. Top therapeutic interventions include fentanyl. 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 (Europe) [Orphanet-validated]
• Umbrella term: 5 Mondo subtypes
• Phenotypes (HPO): 5
• Clinical trials: 5

Clinical features

Epidemiology

Prevalence records

14 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Prevalence at birth	1-9 / 100 000	8.2	Europe	Validated
Prevalence at birth	1-9 / 100 000	2.9	Belgium	Validated
Prevalence at birth	1-5 / 10 000	17.7	France	Validated
Prevalence at birth	1-9 / 100 000	5.9	Germany	Validated
Prevalence at birth	1-9 / 100 000	1	Hungary	Validated
Prevalence at birth	1-9 / 100 000	7.2	Ireland	Validated
Prevalence at birth	1-9 / 100 000	1.4	Italy	Validated
Prevalence at birth	1-5 / 10 000	17.1	Netherlands	Validated
Prevalence at birth	1-9 / 100 000	4.9	Norway	Validated
Prevalence at birth	1-9 / 1 000 000	0.7	Poland	Validated
Prevalence at birth	1-9 / 100 000	3.8	Spain	Validated
Prevalence at birth	1-5 / 10 000	12.3	Switzerland	Validated
Prevalence at birth	1-5 / 10 000	18.1	United Kingdom	Validated
Prevalence at birth	1-9 / 100 000	3.2	Ukraine	Validated

Signs & symptoms

Clinical features (HPO)

5 HPO clinical features (Orphanet curated; top 5 by frequency):

HPO ID	Term	Frequency
HP:0002086	Abnormality of the respiratory system	Very frequent (80-99%)
HP:0001561	Polyhydramnios	Occasional (5-29%)
HP:0001622	Premature birth	Occasional (5-29%)
HP:0002093	Respiratory insufficiency	Occasional (5-29%)
HP:0002103	Abnormality of the pleura	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital pulmonary airway malformation
Mondo ID	MONDO:0016580
MeSH	D015615
Orphanet	2444
ICD-11	2091138945
NCIT	C98892
SNOMED CT	111318005
UMLS	C0010668
MedGen	8225
GARD	0018772
Is cancer (heuristic)	no

Also known as: CCAM · congenital cystic adenomatoid malformation · congenital cystic adenomatoid malformation of lung · congenital cystic adenomatoid malformation of the lung · congenital cystic adenomatous malformation of the lung · congenital cystic disease of the lung · CPAM · cystic adenomatoid malformation of lung

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 › congenital pulmonary airway malformation

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, bronchogenic cyst, primary ciliary dyskinesia, 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

Subtypes (5): congenital pulmonary airway malformation type 0, congenital pulmonary airway malformation type 1, congenital pulmonary airway malformation type 2, congenital pulmonary airway malformation type 3, congenital pulmonary airway malformation type 4

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: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3
PHASE3	1
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00286143	PHASE3	COMPLETED	Effects of Additional Fentanyl to Epidural Bupivacaine for Post-Thoracotomy Pain in Neonates
NCT00670956	PHASE1/PHASE2	TERMINATED	Prenatal Steroids for Treatment of Congenital Cystic Adenomatoid Malformations (CCAM)
NCT05701514	Not specified	RECRUITING	The COllaborative Neonatal Network for the First CPAM Trial
NCT06302985	Not specified	RECRUITING	Atomized Inhalation ICG for Treatment of Congenital Lung Malformations
NCT01732185	Not specified	COMPLETED	Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
FENTANYL	4	1