Details of Disease

General Information of Disease (ID: DIS91ZNC)

Disease Name Interstitial lung disease due to SP-C deficiency
Synonyms interstitial lung disease due to surfactant protein C deficiency
Disease Hierarchy
DISQC53I: Hereditary pulmonary alveolar proteinosis
DIS91ZNC: Interstitial lung disease due to SP-C deficiency

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SFTPC OTIZJD09 Supportive Autosomal dominant [1]
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References

1 Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations. Eur J Hum Genet. 2015 Aug;23(8):1033-41. doi: 10.1038/ejhg.2015.45. Epub 2015 Mar 18.