{"orpha":2032,"name":"Idiopathic pulmonary fibrosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["IPF"],"definition":"An interstitial lung disease with a poor prognosis, that is characterized by the progressive formation of scar tissue within the lungs in the absence of any known cause.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2032/","orphanet_url":"https://www.orpha.net/en/disease/detail/2032","names":{"fr":{"name":"Fibrose pulmonaire idiopathique","synonyms":["FPI","Fibrose interstitielle diffuse idiopathique"],"definition":"Pneumonie interstitielle de pronostic défavorable, caractérisée par la formation progressive de tissu cicatriciel dans les poumons en l'absence de toute cause connue."},"de":{"name":"Lungenfibrose, idiopathische","synonyms":["IPF"],"definition":"Eine interstitielle Lungenerkrankung, die durch die fortschreitende Bildung von Narbengewebe in der Lunge gekennzeichnet ist, ohne dass eine Ursache bekannt ist."},"es":{"name":"Fibrosis pulmonar idiopática","synonyms":["FPI"],"definition":"Es una enfermedad pulmonar intersticial de mal pronóstico que se caracteriza por la formación progresiva de tejido cicatricial intrapulmonar en ausencia de una causa conocida."},"it":{"name":"Fibrosi polmonare idiopatica","synonyms":["Alveolite fibrosante criptogenetica","CFA","Polmonite interstiziale usuale","UIP"],"definition":"La fibrosi polmonare idiopatica (FPI) è una pneumopatia interstiziale con prognosi sfavorevole, caratterizzata dalla formazione progressiva di tessuto cicatriziale all'interno dei polmoni. L'eziologia non è nota."},"nl":{"name":"Idiopathische pulmonale fibrose","synonyms":["IPF","Idiopathische longfibrose"],"definition":"Een interstitiële longziekte met slechte prognose, gekarakteriseerd door progressieve vorming van littekenweefsel in long in afwezigheid van een gekende oorzaak."},"pt":{"name":"Fibrose pulmonar idiopática","synonyms":["Doença intersticial pulmonar"],"definition":"Doença pulmonar intersticial com prognóstico reservado, caracterizada pela formação progressiva de tecido cicatricial nos pulmões na ausência de qualquer causa conhecida."},"pl":{"name":"Idiopatyczne włóknienie płuc","synonyms":["CFA","Kryptogenne włókniejące zapalenie pęcherzyków płucnych","UIP","Zwykłe śródmiąższowe zapalenie płuc"],"definition":"Śródmiąższowa choroba płuc o złym rokowaniu, charakteryzująca się postępującym tworzeniem tkanki bliznowatej w płucach przy braku jakiejkolwiek znanej przyczyny."},"cs":{"name":"Idiopatická plicní fibróza","synonyms":["KFA","Kryptogenní fibrotizující alveolitida","UIP","Obvyklá intersticiální pneumonie"]},"uk":{"name":"Ідіопатичний легеневий фіброз","synonyms":["IPF"],"definition":"An interstitial lung disease with a poor prognosis, that is characterized by the progressive formation of scar tissue within the lungs in the absence of any known cause."},"zh":{"name":"特发性肺纤维化","synonyms":["隐原性致纤维化性肺泡炎"]},"tr":{"name":"İdiyopatik pulmoner fibroz","synonyms":["CFA","UIP","Normal interstisyel pnömoni","Kriptojenik fibrozan alveolit"]}},"xrefs":[{"source":"OMIM","code":"178500","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"616371","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616373","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619611","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"J84.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"CB03.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1074069640"},{"source":"MONDO","code":"800504","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054990","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1800706","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8609","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10021240","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":98300,"name":"Idiopathic interstitial pneumonia","classifications":[184,233]}],"children":[],"genes":[{"symbol":"ABCA3","name":"ATP binding cassette subfamily A member 3","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"25553246[PMID]","hgnc":"33","ensembl":"ENSG00000167972","omim":"601615","loci":["16p13.3"]},{"symbol":"ATP11A","name":"ATPase phospholipid transporting 11A","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23583980[PMID]","hgnc":"13552","ensembl":"ENSG00000068650","omim":"605868","loci":["13q34"]},{"symbol":"DPP9","name":"dipeptidyl peptidase 9","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23583980[PMID]","hgnc":"18648","ensembl":"ENSG00000142002","omim":"608258","loci":["19p13.3"]},{"symbol":"DSP","name":"desmoplakin","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23583980[PMID]","hgnc":"3052","ensembl":"ENSG00000096696","omim":"125647","loci":["6p24.3"]},{"symbol":"FAM13A","name":"family with sequence similarity 13 member A","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23583980[PMID]","hgnc":"19367","ensembl":"ENSG00000138640","omim":"613299","loci":["4q22.1"]},{"symbol":"MUC5B","name":"mucin 5B, oligomeric mucus/gel-forming","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"21506741[PMID]_21506748[PMID]","hgnc":"7516","ensembl":"ENSG00000117983","omim":"600770","loci":["11p15.5"]},{"symbol":"PARN","name":"poly(A)-specific ribonuclease","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25848748[PMID]","hgnc":"8609","ensembl":"ENSG00000140694","omim":"604212","loci":["16p13.12"]},{"symbol":"RTEL1","name":"regulator of telomere elongation helicase 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25848748[PMID]","hgnc":"15888","ensembl":"ENSG00000258366","omim":"608833","loci":["20q13.33"]},{"symbol":"SFTPA1","name":"surfactant protein A1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"13680361[PMID]","hgnc":"10798","ensembl":"ENSG00000122852","omim":"178630","loci":["10q22.3"]},{"symbol":"SFTPA2","name":"surfactant protein A2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"19100526[PMID]","hgnc":"10799","ensembl":"ENSG00000185303","omim":"178642","loci":["10q22.3"]},{"symbol":"SFTPC","name":"surfactant protein C","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"15516475[PMID]","hgnc":"10802","ensembl":"ENSG00000168484","omim":"178620","loci":["8p21.3"]},{"symbol":"STN1","name":"STN1 subunit of CST complex","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23583980[PMID]","hgnc":"26200","ensembl":"ENSG00000107960","omim":"613128","loci":["10q24.33"]},{"symbol":"TERC","name":"telomerase RNA component","gene_type":"Non-coding RNA","association":"Major susceptibility factor in","status":"Assessed","source":"17392301[PMID]_18753630[PMID]","hgnc":"11727","ensembl":"ENSG00000270141","omim":"602322","loci":["3q26.2"]},{"symbol":"TERT","name":"telomerase reverse transcriptase","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"17460043[PMID]","hgnc":"11730","ensembl":"ENSG00000164362","omim":"187270","loci":["5p15.33"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":16.125,"area":"Worldwide","status":"Validated","source":"34233665[PMID]_ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":5.55,"area":"Worldwide","status":"Validated","source":"34233665[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":29.8,"area":"Canada","status":"Validated","source":"34233665[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-5 / 10 000","value":15.35,"area":"Canada","status":"Validated","source":"34233665[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.6,"area":"Finland","status":"Validated","source":"34233665[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"Finland","status":"Validated","source":"34233665[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.2,"area":"France","status":"Validated","source":"34233665[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.8,"area":"France","status":"Validated","source":"34233665[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":21.2,"area":"Italy","status":"Validated","source":"34233665[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.6,"area":"Italy","status":"Validated","source":"34233665[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.9,"area":"Japan","status":"Validated","source":"34233665[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":37.0,"area":"Korea, Republic of","status":"Validated","source":"34233665[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-5 / 10 000","value":13.0,"area":"Korea, Republic of","status":"Validated","source":"34233665[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":11.6,"area":"United Kingdom","status":"Validated","source":"34233665[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"United Kingdom","status":"Validated","source":"34233665[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.7,"area":"United States","status":"Validated","source":"34233665[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.6,"area":"United States","status":"Validated","source":"34233665[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-13","source":"21471066[PMID]_29742380[PMID]","terms":[{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100759","label":"Clubbing of fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030830","label":"Crackles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045051","label":"Decreased DLCO","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025179","label":"Ground-glass opacification on pulmonary HRCT","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025175","label":"Honeycomb lung","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0032341","label":"Reduced forced vital capacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025390","label":"Reticular pattern on pulmonary HRCT","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0031631","label":"Subpleural honeycombing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031950","label":"Usual interstitial pneumonia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033367","label":"Orthodeoxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010444","label":"Pulmonary insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}