Details of Disease | DrugMAP

General Information of Disease (ID: DISS44AR)

Disease Name	Surfactant metabolism dysfunction, pulmonary, 5
Synonyms	Pap due to Csf2Rb deficiency; pulmonary alveolar proteinosis 5; Csf2Rb deficiency; SMDP5; surfactant metabolism dysfunction, pulmonary, type 5; surfactant metabolism dysfunction, pulmonary, 5; hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB; CSF2RB hereditary pulmonary alveolar proteinosis
Definition	Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene.
Disease Hierarchy	DISQC53I: Hereditary pulmonary alveolar proteinosis DISS44AR: Surfactant metabolism dysfunction, pulmonary, 5
Disease Identifiers	MONDO ID MONDO_0013712 UMLS CUI C3280574 OMIM ID 614370 MedGen ID 482204

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
CSF2RB	TTPYS82	Moderate	Autosomal recessive	[1]
CSF2RB	TTPYS82	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CSF2RB	OTGEZR0L	Moderate	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2	Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB. J Med Genet. 2011 Mar;48(3):205-9. doi: 10.1136/jmg.2010.082586. Epub 2010 Nov 12.