KEGG DISEASE: Congenital pulmonary alveolar proteinosis

KEGG

DISEASE: Congenital pulmonary alveolar proteinosis

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 system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
12 Diseases of the respiratory system
  Respiratory diseases principally affecting the lung interstitium
   CB04  Primary interstitial lung diseases specific to infancy or childhood
    H01122  Congenital pulmonary alveolar proteinosis
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06518  JAK-STAT signaling
   H01122  Congenital pulmonary alveolar proteinosis

Pathway

Cytokine-cytokine receptor interaction

JAK-STAT signaling pathway

Network

nt06518 JAK-STAT signaling

Gene

(SMDP1) SFTPB [HSA:6439] [KO:K26067]
(SMDP2) SFTPC [HSA:6440] [KO:K26068]
(SMDP3) ABCA3 [HSA:21] [KO:K05643]
(SMDP4) CSF2RA [HSA:1438] [KO:K05066]
(SMDP5) CSF2RB [HSA:1439] [KO:K04738]

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-11:

MeSH:

OMIM:

265120 610913 610921 300770 614370

Reference

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

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

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

PMID:8163685 (SMDP1)

Authors

Nogee LM, Garnier G, Dietz HC, Singer L, Murphy AM, deMello DE, Colten HR

Title

A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.

Journal

J Clin Invest 93:1860-3 (1994)
DOI:10.1172/JCI117173

Reference

PMID:11207353 (SMDP2)

Authors

Nogee LM, Dunbar AE 3rd, Wert SE, Askin F, Hamvas A, Whitsett JA

Title

A mutation in the surfactant protein C gene associated with familial interstitial lung disease.

Journal

N Engl J Med 344:573-9 (2001)
DOI:10.1056/NEJM200102223440805

Reference

PMID:15044640 (SMDP3)

Authors

Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M

Title

ABCA3 gene mutations in newborns with fatal surfactant deficiency.

Journal

N Engl J Med 350:1296-303 (2004)
DOI:10.1056/NEJMoa032178

Reference

PMID:18955567 (SMDP4)

Authors

Martinez-Moczygemba M, Doan ML, Elidemir O, Fan LL, Cheung SW, Lei JT, Moore JP, Tavana G, Lewis LR, Zhu Y, Muzny DM, Gibbs RA, Huston DP

Title

Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1.

Journal

J Exp Med 205:2711-6 (2008)
DOI:10.1084/jem.20080759

Reference

PMID:21075760 (SMDP5)

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

LinkDB

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