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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.

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Broader categories

Disease (717) Lung disorder (249) Hereditary disease (188) Respiratory system disorder (146) Lower respiratory tract disorder (18) Human disease (15) Pulmonary alveolar proteinosis (9) Hereditary pulmonary alveolar proteinosis (3) Disease of genetic or genomic mechanism (2) Disease by body system or component (0)
Not yet finished but already full! 1 Completed 2
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  • 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

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