hereditary pulmonary alveolar proteinosis
Findings
No curated finding names hereditary pulmonary alveolar proteinosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0012580), read 2026-09-29. CC BY 4.0.
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating protein concentrationHPOHP:0010876
- Very frequent (80% to 99% of cases)
- Crazy paving patternHPOHP:0025391
- Frequent (30% to 79% of cases)
- Failure to thrive in infancyHPOHP:0001531
- Frequent (30% to 79% of cases)
- HypoxemiaHPOHP:0012418
- Frequent (30% to 79% of cases)
- Respiratory distressHPOHP:0002098
- Frequent (30% to 79% of cases)
- Respiratory failure requiring assisted ventilationHPOHP:0004887
- Frequent (30% to 79% of cases)
Show the remaining 3
- Foam cellsHPOHP:0003651
- Occasional (5% to 29% of cases)
- TachycardiaHPOHP:0001649
- Occasional (5% to 29% of cases)
- TachypneaHPOHP:0002789
- Occasional (5% to 29% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- Narrower terms (8)
- chronic respiratory distress with surfactant metabolism deficiency
- interstitial lung disease due to ABCA3 deficiency
- severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
- SFTPC-related interstitial lung disease
- surfactant metabolism dysfunction, pulmonary, 1
- surfactant metabolism dysfunction, pulmonary, 2
- surfactant metabolism dysfunction, pulmonary, 4
- surfactant metabolism dysfunction, pulmonary, 5
Other names
4 names
Resolves to: hereditary pulmonary alveolar proteinosis
- Also called
- congenital PAPcongenital pulmonary alveolar proteinosisinborn error of pulmonary surfactant metabolisminborn error of surfactant metabolism