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GTR Home > Conditions/Phenotypes > Surfactant metabolism dysfunction, pulmonary, 2

Surfactant metabolism dysfunction, pulmonary, 2

Synonyms
DESQUAMATIVE INTERSTITIAL PNEUMONITIS DUE TO SURFACTANT PROTEIN C DEFICIENCY; INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN C DEFICIENCY; PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 2; SFTPC-Related Pulmonary Surfactant Metabolism Dysfunction

Summary

Pulmonary surfactant metabolism dysfunction-2 (SMDP2) is a rare autosomal dominant disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course. The pathophysiology of the disorder is postulated to involve intracellular accumulation of a structurally defective SPC protein (Thomas et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120). [from OMIM]

Available tests

34 tests are in the database for this condition.

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Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BRICD6, PSP-C, SFTP2, SMDP2, SP-C, SP5, SFTPC
    Summary: surfactant protein C

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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