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GTR Home > Conditions/Phenotypes > Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Synonyms
Interstitial lung and liver disease; PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Interstitial lung and liver disease is an autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis (summary by Hadchouel et al., 2015). [from OMIM]

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT2U, ILFS2, ILLD, MARS, METRS, MRS, MTRNS, SPG70, TTD9, MARS1
    Summary: methionyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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