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severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Uniprot Description An autosomal recessive, life-threatening disorder characterized by respiratory insufficiency and progressive liver disease with onset in infancy or early childhood. Clinical features include failure to thrive, hypotonia, intermittent lactic acidosis, aminoaciduria, hypothyroidism, interstitial lung disease, pulmonary alveolar proteinosis, anemia, and liver canalicular cholestasis, steatosis, and iron deposition.
Mondo Term and Equivalent IDs
MONDO:0014206:  severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Orphanet:440427: 
UMLS:C3809651: