Details of Disease | DrugMAP

General Information of Disease (ID: DISRYUG0)

Disease Name	Surfactant metabolism dysfunction, pulmonary, 1
Synonyms	interstitial lung disease, nonspecific, due to surfactant Protein B deficiency; pulmonary surfactant protein B, deficiency of; surfactant metabolism dysfunction, pulmonary, 1; pulmonary alveolar proteinosis, congenital, 1; surfactant metabolism dysfunction, pulmonary, type 1; SMDP1; interstitial lung disease due to surfactant Protein B deficiency; interstitial lung disease due to SP-B dysfunction; neonatal acute respiratory distress due to SP-B deficiency; neonatal acute respiratory distress due to surfactant protein B deficiency
Disease Hierarchy	DISQC53I: Hereditary pulmonary alveolar proteinosis DISBV50J: Acute disease DISRYUG0: Surfactant metabolism dysfunction, pulmonary, 1
Disease Identifiers	MONDO ID MONDO_0009929 MESH ID C566882 UMLS CUI C1968602 OMIM ID 265120 MedGen ID 368844 Orphanet ID 217563

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
SFTPB	OTOHS07E	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.