{"orpha":586,"name":"Cystic fibrosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CF","Mucoviscidosis"],"definition":"A rare, genetic pulmonary disorder characterized by sweat, thick mucus secretions causing multisystem disease, chronic infections of the lungs, bulky diarrhea and short stature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-586/","orphanet_url":"https://www.orpha.net/en/disease/detail/586","names":{"fr":{"name":"Mucoviscidose","synonyms":["CF","Fibrose kystique du pancréas"],"definition":"Maladie pulmonaire rare d'origine génétique, caractérisée par la production de sueur et de sécrétions muqueuses ayant une viscosité anormale, donnant lieu à des maladies multisystémiques, des infections pulmonaires chroniques, des diarrhées volumineuses et une petite taille."},"de":{"name":"Zystische Fibrose","synonyms":["CF","Mukoviszidose"],"definition":"Die Zystische Fibrose (CF) ist eine genetisch bedingte Erkrankung, die gekennzeichnet ist durch die Produktion von Schweiß mit hohem Salzgehalt und die Sekretion von Schleim mit abnormaler Viskosität. Sie kann zu Multisystemerkrankungen, chronischen Lungeninfektionen, voluminösen Durchfällen und Kleinwuchs führen."},"es":{"name":"Fibrosis quística","synonyms":["FQ","Mucoviscidosis"],"definition":"Es un trastorno pulmonar de origen genético poco frecuente, caracterizado por sudoración salada y secreciones mucosas espesas que resultan en enfermedad multisistémica, infecciones pulmonares crónicas, diarrea voluminosa y talla baja."},"it":{"name":"Fibrosi cistica","synonyms":["FC","Mucoviscidosi"],"definition":"La fibrosi cistica (FC) è una pneumopatia genetica rara, caratterizzata da sudorazione e secrezioni mucose dense che causano una malattia multisistemica, infezioni polmonari croniche, diarrea massiva e bassa statura."},"nl":{"name":"Taaislijmziekte","synonyms":["CF","Cystische fibrose","Mucoviscidose"],"definition":"Een zeldzame, genetische aandoening van long, gekarakteriseerd door zweet, secretie van dikke mucus die multisystemische ziekte veroorzaakt, chronische longinfecties, volumineuze diarree, en kleine gestalte."},"pt":{"name":"Fibrose quística","synonyms":["Mucoviscidose"],"definition":"A fibrose cística (FC) é uma doença genética caracterizada pela produção de suor com alta concentração de sal e de secreções mucosas com uma viscosidade anormal."},"pl":{"name":"Mukowiscydoza","synonyms":["CF"],"definition":"Rzadka, genetyczna choroba płuc charakteryzująca się nadmiernym poceniem, obecnością gęstej wydzieliny powodującej chorobę wieloukładową, przewlekłe infekcje płuc, masywną biegunkę i niski wzrost."},"cs":{"name":"Cystická fibróza","synonyms":["CF","Mukoviscidóza"],"definition":"Vzácné genetické plicní onemocnění charakterizované pocením, hustou hlenovou sekrecí způsobující multisystémové onemocnění, chronické infekce plic, objemné průjmy a nízký vzrůst."},"uk":{"name":"Кістозний фіброз","synonyms":["CF","Муковісцидоз"],"definition":"A rare, genetic pulmonary disorder characterized by sweat, thick mucus secretions causing multisystem disease, chronic infections of the lungs, bulky diarrhea and short stature."},"zh":{"name":"囊性纤维化","synonyms":["粘液粘稠病"]},"tr":{"name":"Kistik fibrozis","synonyms":["CF","Mukovisidoz"]}},"xrefs":[{"source":"OMIM","code":"219700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E84","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"E84.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"E84.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"E84.8","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"CA25","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"514403112"},{"source":"MONDO","code":"0009061","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D003550","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0010674","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6233","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10011762","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98113,"name":"OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly","status":"inactive"}],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":156607,"name":"Genetic biliary tract disease","classifications":[156]},{"orpha":165661,"name":"Genetic pancreatic disease","classifications":[156]},{"orpha":101941,"name":"Rare biliary tract disease","classifications":[183]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":506222,"name":"Rare disorder potentially indicated for lung transplant","classifications":[233]},{"orpha":399824,"name":"Rare disorder with obstructive azoospermia","classifications":[201]},{"orpha":400003,"name":"Rare genetic disorder with obstructive azoospermia","classifications":[156]},{"orpha":156610,"name":"Rare genetic respiratory disease","classifications":[156]},{"orpha":101937,"name":"Rare pancreatic disease","classifications":[152]},{"orpha":101944,"name":"Rare pulmonary disease","classifications":[184]}],"children":[],"genes":[{"symbol":"CFTR","name":"CF transmembrane conductance regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22214395[PMID]","hgnc":"1884","ensembl":"ENSG00000001626","omim":"602421","loci":["7q31.2"]},{"symbol":"CEACAM3","name":"CEA cell adhesion molecule 3","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"20047061[PMID]","hgnc":"1815","ensembl":"ENSG00000170956","omim":"609142","loci":["19q13.2"]},{"symbol":"CEACAM6","name":"CEA cell adhesion molecule 6","gene_type":"gene with protein product","association":"Modifying germline mutation 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subunit","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"16690975[PMID]","hgnc":"4311","ensembl":"ENSG00000001084","omim":"606857","loci":["6p12.1"]},{"symbol":"GSTM3","name":"glutathione S-transferase mu 3","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"28289476[PMID]","hgnc":"4635","ensembl":"ENSG00000134202","omim":"138390","loci":["1p13.3"]},{"symbol":"HFE","name":"homeostatic iron regulator","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"30291871[PMID]","hgnc":"4886","ensembl":"ENSG00000010704","omim":"613609","loci":["6p22.2"]},{"symbol":"HMOX1","name":"heme oxygenase 1","gene_type":"gene with protein product","association":"Modifying germline mutation 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member A3","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"28756021[PMID]","hgnc":"11073","ensembl":"ENSG00000066230","omim":"182307","loci":["5p15.33"]},{"symbol":"STX1A","name":"syntaxin 1A","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"23572023[PMID]","hgnc":"11433","ensembl":"ENSG00000106089","omim":"186590","loci":["7q11.23"]},{"symbol":"TGFB1","name":"transforming growth factor beta 1","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"18424453[PMID]","hgnc":"11766","ensembl":"ENSG00000105329","omim":"190180","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-5 / 10 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class","class":"1-5 / 10 000","value":15.29,"area":"Czech Republic","status":"Validated","source":"31241292[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.7775,"area":"Czech Republic","status":"Validated","source":"31241292[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":17.41,"area":"Denmark","status":"Validated","source":"31682332[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.9946,"area":"Denmark","status":"Validated","source":"31682332[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":22.2222,"area":"Estonia","status":"Validated","source":"18442953[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.18,"area":"Estonia","status":"Validated","source":"18442953[PMID]_ORPHANET"},{"type":"Prevalence at 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000","value":11.1954,"area":"Germany","status":"Validated","source":"25914230[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":28.5714,"area":"Greece","status":"Validated","source":"18442953[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.21,"area":"Greece","status":"Validated","source":"18442953[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Class only","class":"Unknown","value":0.0,"area":"Hungary","status":"Validated","source":"18442953[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.09,"area":"Hungary","status":"Validated","source":"18442953[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":36.36,"area":"Ireland","status":"Validated","source":"32483343[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.8733,"area":"Ireland","status":"Validated","source":"32483343[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":17.809,"area":"Italy","status":"Validated","source":"31005549[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.2236,"area":"Italy","status":"Validated","source":"31005549[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Class only","class":"Unknown","value":0.0,"area":"Latvia","status":"Validated","source":"18442953[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.04,"area":"Latvia","status":"Validated","source":"18442953[PMID]"},{"type":"Prevalence at birth","qualification":"Class only","class":"Unknown","value":0.0,"area":"Lithuania","status":"Validated","source":"18442953[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 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000","value":9.5181,"area":"Netherlands","status":"Validated","source":"30146269[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.5474,"area":"Norway","status":"Validated","source":"26795017[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.629,"area":"Norway","status":"Validated","source":"26795017[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":17.4881,"area":"Poland","status":"Validated","source":"22892530[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0394,"area":"Poland","status":"Validated","source":"22892530[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.549,"area":"Portugal","status":"Validated","source":"33072945[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.204,"area":"Portugal","status":"Validated","source":"33072945[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":48.6381,"area":"Romania","status":"Validated","source":"18442953[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.06,"area":"Romania","status":"Validated","source":"18442953[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.7119,"area":"Russian Federation","status":"Validated","source":"ECFS Neonatal Screening Working Group[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.5753,"area":"Russian Federation","status":"Validated","source":"ECFS Neonatal Screening Working Group[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":15.38,"area":"Slovakia","status":"Validated","source":"28544683[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.8292,"area":"Slovakia","status":"Validated","source":"28544683[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":33.3333,"area":"Slovenia","status":"Validated","source":"18442953[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.28,"area":"Slovenia","status":"Validated","source":"18442953[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":16.5048,"area":"Spain","status":"Validated","source":"25680858[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.4749,"area":"Spain","status":"Validated","source":"25680858[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and 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(99-80%)","criteria":null},{"hpo":"HP:0006536","label":"Airway obstruction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012236","label":"Elevated sweat chloride","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001738","label":"Exocrine pancreatic insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003251","label":"Male infertility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045082","label":"Decreased body mass index","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004401","label":"Meconium ileus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002035","label":"Rectal prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002724","label":"Recurrent Aspergillus infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005376","label":"Recurrent Haemophilus influenzae infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002726","label":"Recurrent Staphylococcus aureus infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002783","label":"Recurrent lower respiratory tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032342","label":"Reduced forced expiratory volume in one second","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002570","label":"Steatorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100582","label":"Nasal polyposis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032261","label":"Nontuberculous mycobacterial pulmonary infection","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002107","label":"Pneumothorax","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002842","label":"Recurrent Burkholderia cepacia infections","frequency":"Very rare (<4-1%)","criteria":null}]}}