KEGG DISEASE: Idiopathic pulmonary fibrosis

KEGG

DISEASE: Idiopathic pulmonary fibrosis

Entry

H01299                      Disease

Name

Idiopathic pulmonary fibrosis

Subgroup

Pulmonary fibrosis and/or bone marrow failure, telomere-related (PEBMFT) [DS:H02569]

Description

Idiopathic pulmonary fibrosis is a scarring lung disease that presents in older adults with shortness of breath and cough. Mutations in surfactant protein C (SFTPC), surfactant protein A (SFTPA), telomerase reverse transcriptase (TERT), and telomerase RNA component (TERC) have been identified in familial cases of pulmonary fibrosis. Recently, promoter variant of MUC5B was confirmed as an idiopathic pulmonary fibrosis risk variant.

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
   CB03  Idiopathic interstitial pneumonitis
    H01299  Idiopathic pulmonary fibrosis

Gene

(PFBMFT1) TERT [HSA:7015] [KO:K11126]
(PFBMFT2) TERC [HSA:7012] [KO:K22183]
(ILD1) SFTPA1 [HSA:653509] [KO:K10067]
(ILD2) SFTPA2 [HSA:729238] [KO:K10067]
(ILD2) MUC5B [HSA:727897] [KO:K13908]
SFTPC [HSA:6440] [KO:K26068]

Drug

Prednisolone sodium phosphate [DR:D00981]
Prednisone [DR:D00473]
Nintedanib esylate [DR:D10396]
Pirfenidone [DR:D01583]

Other DBs

ICD-11:

OMIM:

614742 614743 619611 178500

Reference

Authors

Heinrich S, Hartl D, Griese M

Title

Surfactant protein A--from genes to human lung diseases.

Journal

Curr Med Chem 13:3239-52 (2006)
DOI:10.2174/092986706778773112

Reference

Authors

Lawson WE, Loyd JE, Degryse AL

Title

Genetics in pulmonary fibrosis--familial cases provide clues to the pathogenesis of idiopathic pulmonary fibrosis.

Journal

Am J Med Sci 341:439-43 (2011)
DOI:10.1097/MAJ.0b013e31821a9d7a

Reference

Authors

Lehtonen ST, Veijola A, Karvonen H, Lappi-Blanco E, Sormunen R, Korpela S, Zagai U, Skold MC, Kaarteenaho R

Title

Pirfenidone and nintedanib modulate properties of fibroblasts and myofibroblasts in idiopathic pulmonary fibrosis.

Journal

Respir Res 17:14 (2016)
DOI:10.1186/s12931-016-0328-5

Reference

Authors

Travis WD, Costabel U, Hansell DM, King TE Jr, Lynch DA, Nicholson AG, Ryerson CJ, Ryu JH, Selman M, Wells AU, Behr J, Bouros D, Brown KK, Colby TV, Collard HR, Cordeiro CR, Cottin V, Crestani B, Drent M, Dudden RF, Egan J, Flaherty K, Hogaboam C, Inoue Y, Johkoh T, Kim DS, Kitaichi M, Loyd J, Martinez FJ, Myers J, Protzko S, Raghu G, Richeldi L, Sverzellati N, Swigris J, Valeyre D

Title

An official American Thoracic Society/European Respiratory Society statement: Update of the international multidisciplinary classification of the idiopathic interstitial pneumonias.

Journal

Am J Respir Crit Care Med 188:733-48 (2013)
DOI:10.1164/rccm.201308-1483ST

Reference

PMID:15814878 (TERT)

Authors

Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM, Young NS

Title

Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.

Journal

N Engl J Med 352:1413-24 (2005)
DOI:10.1056/NEJMoa042980

Reference

PMID:12090986 (TERC)

Authors

Vulliamy T, Marrone A, Dokal I, Mason PJ

Title

Association between aplastic anaemia and mutations in telomerase RNA.

Journal

Lancet 359:2168-70 (2002)
DOI:10.1016/S0140-6736(02)09087-6

Reference

PMID:13680361 (SFTPA1)

Authors

Selman M, Lin HM, Montano M, Jenkins AL, Estrada A, Lin Z, Wang G, DiAngelo SL, Guo X, Umstead TM, Lang CM, Pardo A, Phelps DS, Floros J

Title

Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis.

Journal

Hum Genet 113:542-50 (2003)
DOI:10.1007/s00439-003-1015-4

Reference

PMID:19100526 (SFTPA2)

Authors

Wang Y, Kuan PJ, Xing C, Cronkhite JT, Torres F, Rosenblatt RL, DiMaio JM, Kinch LN, Grishin NV, Garcia CK

Title

Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer.

Journal

Am J Hum Genet 84:52-9 (2009)
DOI:10.1016/j.ajhg.2008.11.010

Reference

PMID:21506748 (MUC5B)

Authors

Zhang Y, Noth I, Garcia JG, Kaminski N

Title

A variant in the promoter of MUC5B and idiopathic pulmonary fibrosis.

Journal

N Engl J Med 364:1576-7 (2011)
DOI:10.1056/NEJMc1013504

Reference

PMID:19443464 (SFTPC)

Authors

Guillot L, Epaud R, Thouvenin G, Jonard L, Mohsni A, Couderc R, Counil F, de Blic J, Taam RA, Le Bourgeois M, Reix P, Flamein F, Clement A, Feldmann D

Title

New surfactant protein C gene mutations associated with diffuse lung disease.

Journal

J Med Genet 46:490-4 (2009)
DOI:10.1136/jmg.2009.066829

LinkDB

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