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GTR Home > Conditions/Phenotypes > Interstitial lung disease due to ABCA3 deficiency

Interstitial lung disease due to ABCA3 deficiency

Synonyms
ABCA3-Related Pulmonary Surfactant Metabolism Dysfunction; PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 3; Surfactant metabolism dysfunction, pulmonary, 3
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120). [from OMIM]

Available tests

37 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (37 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABC-C, ABC3, EST111653, LBM180, SMDP3, ABCA3
    Summary: ATP binding cassette subfamily A member 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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