Details of Disease | DrugMAP

General Information of Disease (ID: DISQC53I)

Disease Name	Hereditary pulmonary alveolar proteinosis
Synonyms	sufactant metabolism dysfunction, pulmonary; pulmonary alveolar proteinosis, congenital; inborn error of surfactant metabolism; congenital pulmonary alveolar proteinosis; inborn error of pulmonary surfactant metabolism; congenital PAP; hereditary pulmonary alveolar proteinosis
Definition	Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.\|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'immune system disorder' (MONDO:0005046) ontology branch (https://orcid.org/0000-0001-8216-5084)
Disease Hierarchy	DISGC6JB: Pulmonary alveolar proteinosis DISYKSRF: Genetic disease DISQC53I: Hereditary pulmonary alveolar proteinosis
Disease Identifiers	MONDO ID MONDO_0012580 MESH ID C580477 UMLS CUI C3711368 MedGen ID 777976 Orphanet ID 264675 SNOMED CT ID 3.29E+14

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TST	TT51OTS	Limited	Genetic Variation	[1]
CSF2RA	TT6MP2Z	Supportive	Autosomal recessive	[2]
CSF2RB	TTPYS82	Supportive	Autosomal recessive	[3]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCA3	DT2T6VQ	Definitive	Genetic Variation	[4]
------------------------------------------------------------------------------------

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRPH2	OTNH2G5H	Limited	Genetic Variation	[1]
SFTPC	OTIZJD09	Limited	Genetic Variation	[5]
CSF2RA	OTUOO2XS	Supportive	Autosomal recessive	[2]
CSF2RB	OTGEZR0L	Supportive	Autosomal recessive	[3]
ADGRF5	OTWU7AOO	Strong	Biomarker	[6]
------------------------------------------------------------------------------------

References

1	Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome.J Perinatol. 2018 Apr;38(4):337-344. doi: 10.1038/s41372-017-0018-2. Epub 2017 Dec 19.
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.
3	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.
4	ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.Hum Mutat. 2018 Jun;39(6):841-850. doi: 10.1002/humu.23416. Epub 2018 Mar 25.
5	Genetic basis of surfactant dysfunction in Chinese children: A retrospective study.Pediatr Pulmonol. 2019 Aug;54(8):1173-1181. doi: 10.1002/ppul.24334. Epub 2019 May 12.
6	Epithelial Gpr116 regulates pulmonary alveolar homeostasis via Gq/11 signaling.JCI Insight. 2017 Jun 2;2(11):e93700. doi: 10.1172/jci.insight.93700. eCollection 2017 Jun 2.