KEGG   DISEASE: Idiopathic pulmonary fibrosisHelp
Entry
H01299                      Disease                                

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
Lung disease
Brite
Human diseases [BR:br08402]
 Respiratory diseases
  Lung diseases
   H01299  Idiopathic pulmonary fibrosis
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
BRITE hierarchy
Gene
TERC [HSA:7012] [KO:K22183]
TERT [HSA:7015] [KO:K11126]
SFTPA1 [HSA:653509] [KO:K10067]
SFTPA2 [HSA:729238] [KO:K10067]
SFTPC [HSA:6440]
MUC5B [HSA:727897] [KO:K13908]
Drug
Prednisolone sodium phosphate [DR:D00981]
Prednisone [DR:D00473]
Nintedanib esylate [DR:D10396]
Pirfenidone [DR:D01583]
Other DBs
ICD-11: CB03.4
ICD-10: J84.1
OMIM: 178500
Reference
  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
  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
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
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:26846335 (drug)
  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
PMID:24032382 (marker)
  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

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