Details of Disease | DrugMAP

General Information of Disease (ID: DISYD0O0)

Disease Name	Surfactant metabolism dysfunction, pulmonary, 4
Synonyms	SMDP4; Pap due to Csf2Ra deficiency; Csf2Ra deficiency; pulmonary alveolar proteinosis, congenital, 4; surfactant metabolism dysfunction, pulmonary, 4; surfactant metabolism dysfunction, pulmonary, type 4
Disease Hierarchy	DISQC53I: Hereditary pulmonary alveolar proteinosis DISYD0O0: Surfactant metabolism dysfunction, pulmonary, 4
Disease Identifiers	MONDO ID MONDO_0010424 MESH ID C567461 UMLS CUI C2677877 OMIM ID 300770 MedGen ID 393858

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CSF2RA	TT6MP2Z	Limited	Biomarker	[1]
CSF2RA	TT6MP2Z	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CSF2RA	OTUOO2XS	Strong	Autosomal recessive	[2]
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References

1	Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.Orphanet J Rare Dis. 2014 Nov 26;9:171. doi: 10.1186/s13023-014-0171-z.
2	Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. J Exp Med. 2008 Nov 24;205(12):2703-10. doi: 10.1084/jem.20080990. Epub 2008 Oct 27.