KEGG   DISEASE: Congenital pulmonary alveolar proteinosisHelp
Entry
H01122                      Disease                                

Name
Congenital pulmonary alveolar proteinosis;
Pulmonary surfactant metabolism dysfunction
  Supergrp
Pulmonary alveolar proteinosis [DS:H00217]
Description
Congenital pulmonary alveolar proteinosis is also known as pulmonary surfactant metabolism dysfunction (SMDP). It is caused by one of the three different genes associated with surfactant metabolism in type II epithelial cells and characterized by respiratory distress after birth. Congenital PAP is also associated with mutations in CSF2RA and CSF2RB genes, encoding alpha and beta chains of the GM-CSF receptor.
Category
Respiratory disease
Brite
Human diseases [BR:br08402]
 Respiratory diseases
  Lung diseases
   H01122  Pulmonary alveolar proteinosis (PAP)
BRITE hierarchy
Pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04630  Jak-STAT signaling pathway
Gene
(SMDP1) SFTPB [HSA:6439]
(SMDP2) SFTPC [HSA:6440]
(SMDP3) ABCA3 [HSA:21] [KO:K05643]
(SMDP4) CSF2RA [HSA:1438] [KO:K05066]
(SMDP5) CSF2RB [HSA:1439] [KO:K04738]
Env factor
Inhalation of inorganic dust [CPD:C19572] or toxic fumes, hematologic malignancies, pharmacologic immunosuppression, and certain infections
Comment
A similar but histopathologically distinct disorder of surfactant homeostasis can occur with mutations for the genes encoding surfactant proteins B or C [DS:H00217].
Other DBs
ICD-10: J84.0
MeSH: D011649
OMIM: 265120 610913 610921 300770 614370
Reference
PMID:21632797 (description, gene)
  Authors
Borie R, Danel C, Debray MP, Taille C, Dombret MC, Aubier M, Epaud R, Crestani B
  Title
Pulmonary alveolar proteinosis.
  Journal
Eur Respir Rev 20:98-107 (2011)
DOI:10.1183/09059180.00001311
Reference
PMID:20623372 (description, gene, environmental factor, comment)
  Authors
Martinez-Moczygemba M, Huston DP
  Title
Immune dysregulation in the pathogenesis of pulmonary alveolar proteinosis.
  Journal
Curr Allergy Asthma Rep 10:320-5 (2010)
DOI:10.1007/s11882-010-0134-y
Reference
PMID:5218289
  Authors
Staegemann G
  Title
[The new extension of the Klinik und Poliklinik fur Stomatologie of the Carl Gustav Carus Medical Academy in Dresden].
  Journal
Dtsch Stomatol 16:207-15 (1966)
Reference
  Authors
Khan A, Agarwal R
  Title
Pulmonary alveolar proteinosis.
  Journal
Respir Care 56:1016-28 (2011)
DOI:10.4187/respcare.01125
Reference
  Authors
Tanaka T, Motoi N, Tsuchihashi Y, Tazawa R, Kaneko C, Nei T, Yamamoto T, Hayashi T, Tagawa T, Nagayasu T, Kuribayashi F, Ariyoshi K, Nakata K, Morimoto K
  Title
Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB.
  Journal
J Med Genet 48:205-9 (2011)
DOI:10.1136/jmg.2010.082586

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