Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

MONDO:0014206

Also known as: PAP, Reunion island type, hereditary pulmonary alveolar proteinosis with hepatic involvement, interstitial lung and liver disease, pulmonary alveolar proteinosis, Reunion island type, ILLD, infantile liver failure syndrome 2, infantile liver failure syndrome 2, formerly, pulmonary alveolar proteinosis, Reunion Island

3 clinical trials for this condition and its sub-types, 3 tagged with Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency itself.

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Where it sits in the disease tree

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↑ Hereditary pulmonary alveolar proteinosis (6)

Including sub-types (3) Tagged with Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency (3)

Not yet finished but already full! 1 Completed 2

Rare disease study pulled before starting: scientists sought clues in cell stress

Knowledge-focused Cancelled

This study was planned to learn how certain rare genetic mutations disrupt protein production and cause severe diseases affecting the lungs, liver, brain, and digestion. Researchers would have used cells from patients to measure protein levels and stress responses. However, the s…

Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:51 UTC

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Where it sits in the disease tree

Rare disease study pulled before starting: scientists sought clues in cell stress