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GTR Home > Conditions/Phenotypes > Surfactant metabolism dysfunction, pulmonary, 5

Surfactant metabolism dysfunction, pulmonary, 5

Synonyms
CSF2RB DEFICIENCY; PAP DUE TO CSF2RB DEFICIENCY; PULMONARY ALVEOLAR PROTEINOSIS 5

Summary

Pulmonary surfactant metabolism dysfunction-5 (SMDP5) is an autosomal recessive lung disorder manifest clinically and pathologically as pulmonary alveolar proteinosis (PAP). PAP is a rare lung disease characterized by the ineffective clearance of surfactant by alveolar macrophages. This results in the accumulation of surfactant-derived lipoproteinaceous material in the alveoli and terminal bronchioles, causing respiratory failure (summary by Greenhill and Kotton, 2009). For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120). [from OMIM]

Available tests

25 tests are in the database for this condition.

Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD131, CDw131, IL3RB, IL5RB, SMDP5, betaGMR, CSF2RB
    Summary: colony stimulating factor 2 receptor subunit beta

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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