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Diseases associated with surfactant metabolism
Stable Identifier
R-HSA-5687613
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases associated with surfactant metabolism (Homo sapiens)
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The reactions annotated here describe genetic defects in genes regulating surfactant homeostasis which are associated with severe acute and chronic lung diseases in newborns and older infants (Whitsett et al. 2015).
Literature References
PubMed ID
Title
Journal
Year
25621661
Diseases of pulmonary surfactant homeostasis
Whitsett, JA
,
Weaver, TE
,
Wert, SE
Annu Rev Pathol
2015
Participants
Events
Defective SLC34A2 causes PALM
(Homo sapiens)
Defective SFTPA2 causes IPF
(Homo sapiens)
Defective pro-SFTPB causes SMDP1 and RDS
(Homo sapiens)
Defective pro-SFTPC causes SMDP2 and RDS
(Homo sapiens)
Defective ABCA3 causes SMDP3
(Homo sapiens)
Defective CSF2RA causes SMDP4
(Homo sapiens)
Defective CSF2RB causes SMDP5
(Homo sapiens)
Participates
as an event of
Diseases of metabolism (Homo sapiens)
Disease
Name
Identifier
Synonyms
lung disease
DOID:850
Non-neoplastic pulmonary disorder, non-neoplastic lung disorder
Authored
Jassal, B (2015-04-08)
Reviewed
D'Eustachio, P (2015-08-17)
Created
Jassal, B (2015-04-08)
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