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Start free with EleplanSevere early-onset pulmonary alveolar proteinosis due to MARS deficiency
ORPHA:440427Disease
Also called Hereditary pulmonary alveolar proteinosis with hepatic involvement · Interstitial lung and liver disease · PAP, Reunion island type · Pulmonary alveolar proteinosis, Reunion island type
What it is
A rare, genetic interstitial lung disease characterized by accumulation of lipoproteins in the pulmonary alveoli leading to restrictive lung disease and respiratory failure. Patients present with dyspnea, tachypnea, cough, failure to thrive, and digital clubbing. Liver disease have been described in some cases including hepatomegaly, steatosis, fibrosis or cirrhosis.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood, Infancy
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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