| H01299 | |
| H number | H01299 |
| Name | Idiopathic pulmonary fibrosis |
| 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 |
| Network | - |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Prednisolone sodium phosphate [DR:D00981] Prednisone [DR:D00473] Nintedanib esylate [DR:D10396] Pirfenidone [DR:D01583] |
| Comment | - |
| Other DBs | ICD-11: CB03.4 ICD-10: J84.1 OMIM: 614742 614743 619611 178500 |
| Reference | PMID:17168848 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 PMID:21613931 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 PMID:26846335 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 PMID:24032382 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 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 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 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 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 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 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 |