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hereditary pulmonary alveolar proteinosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary pulmonary alveolar proteinosis

MONDO:0012580

Also known as:congenital PAPcongenital pulmonary alveolar proteinosisinborn error of pulmonary surfactant metabolism

Find Clinical TrialsTrials

Overview

Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.

OnsetJUVENILE, ADULT, NEONATAL

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (9 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Abnormal circulating protein concentration; and common findings: Failure to thrive in infancy, Restrictive ventilatory defect, Respiratory distress, and Respiratory failure requiring assisted ventilation and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	5	Restrictive ventilatory defect, Respiratory distress, Respiratory failure requiring assisted ventilation

Prognosis

Phenotype severity distribution: 1 very common feature, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

1 clinical trial registered, 1 recruiting. Interventions under study include drug therapy. Pipeline includes 1 PHASE1. Research is primarily sponsored by academic and government institutions.

9 publications have been identified in PubMed for hereditary pulmonary alveolar proteinosis. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Other (11%).

Recent Publications

Carrington JM (2026). [PMID: 29493933](https://pubmed.ncbi.nlm.nih.gov/29493933/). *Unknown Journal*. [Review / Meta-Analysis]
Chen Q (2025). [PMID: 41311221](https://pubmed.ncbi.nlm.nih.gov/41311221/). *Mol Genet Genomic Med*. [Review / Meta-Analysis]
Jinson S (2025). [PMID: 40432281](https://pubmed.ncbi.nlm.nih.gov/40432281/). *Pediatr Pulmonol*. [Review / Meta-Analysis]
Sivasubramanian D (2025). [PMID: 40486150](https://pubmed.ncbi.nlm.nih.gov/40486150/). *Radiol Case Rep*. [Case Report / Case Series]
Kimura Y (2025). [PMID: 39872388](https://pubmed.ncbi.nlm.nih.gov/39872388/). *ERJ Open Res*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:264675

GARD

Genetic and Rare Diseases Info Center

GARD:4582

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

hereditary pulmonary alveolar proteinosis

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Inhaled granulocyte-macrophage colony-stimulating for autoimmune pulmonary alveolar proteinosis: From pathogenesis to clinical practice.

Comorbidity of autoimmune diseases in patients with autoimmune pulmonary alveolar proteinosis.

[Autoimmune pulmonary alveolar proteinosis induced by brigatinib: a case report and literature review].

Savara’s Early Access Program

hereditary pulmonary alveolar proteinosis

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Inhaled granulocyte-macrophage colony-stimulating for autoimmune pulmonary alveolar proteinosis: From pathogenesis to clinical practice.

Comorbidity of autoimmune diseases in patients with autoimmune pulmonary alveolar proteinosis.

[Autoimmune pulmonary alveolar proteinosis induced by brigatinib: a case report and literature review].

Savara’s Early Access Program