{"orpha":60033,"name":"Idiopathic bronchiectasis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Idiopathic bronchiectasis&#160;(IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-60033/","orphanet_url":"https://www.orpha.net/en/disease/detail/60033","names":{"fr":{"name":"Bronchiectasie idiopathique","synonyms":["Dilatation des bronches idiopathique","DDB idiopathique"],"definition":"Maladie pulmonaire progressive rare caractérisée par une dilatation chronique des bronches et une destruction des parois bronchiques en l'absence de toute cause sous-jacente (telle qu'une maladie post-infectieuse, une aspiration, une immunodéficience, des anomalies congénitales et des anomalies ciliaires)."},"de":{"name":"Bronchiektasie, idiopathische","definition":"Die idiopathische Bronchiektasie (IB) ist eine fortschreitende Lungenerkrankung, die durch eine chronische Erweiterung der Bronchien und eine Zerstörung der Bronchialwände ohne zugrunde liegende Ursache (wie z. B. nach einer Infektionskrankheit, Aspiration, Immunschwäche, angeborenen Anomalien und Zilienanomalien) gekennzeichnet ist."},"es":{"name":"Bronquiectasia idiopática","definition":"Es una enfermedad pulmonar progresiva caracterizada por la dilatación crónica de los bronquios y la destrucción de las paredes bronquiales en ausencia de cualquier causa subyacente (como enfermedad posinfecciosa, aspiración, inmunodeficiencia, anomalías congénitas y anomalías ciliares)."},"it":{"name":"Bronchiectasia idiopatica"},"nl":{"name":"Idiopathische bronchiëctasie","definition":"Idiopathische bronchiëctasie (IB) is een progressieve longaandoening die gekarakteriseerd wordt door chronische dilatatie van de luchtpijpvertakkingen en afbraak van de bronchiale wanden zonder enige onderliggende oorzaak (zoals post-infectueuze ziekte, aspiratie, immuundeficiëntie, congenitale afwijkingen en ciliaire defecten)."},"pt":{"name":"Bronquiectasia idiopática"},"pl":{"name":"Idiopatyczne rozstrzenie oskrzeli"},"cs":{"name":"Idiopatické bronchiektázie"},"uk":{"name":"Ідіопатичний бронхоектаз","definition":"Idiopathic bronchiectasis&#160;(IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies)."},"zh":{"name":"特发性支气管扩张症"},"tr":{"name":"İdiyopatik bronşektazi"}},"xrefs":[{"source":"OMIM","code":"211400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613021","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613071","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"J47","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CA24","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1935524933"},{"source":"MONDO","code":"0018956","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0339985","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":156610,"name":"Rare genetic respiratory disease","classifications":[156]},{"orpha":101944,"name":"Rare pulmonary disease","classifications":[184]}],"children":[],"genes":[{"symbol":"CFTR","name":"CF transmembrane conductance regulator","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"23781395[PMID]_25797027[PMID]","hgnc":"1884","ensembl":"ENSG00000001626","omim":"602421","loci":["7q31.2"]},{"symbol":"SCNN1A","name":"sodium channel epithelial 1 subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19462466[PMID]","hgnc":"10599","ensembl":"ENSG00000111319","omim":"600228","loci":["12p13.31"]},{"symbol":"SCNN1B","name":"sodium channel epithelial 1 subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21658649[PMID]_18507830[PMID]","hgnc":"10600","ensembl":"ENSG00000168447","omim":"600760","loci":["16p12.2"]},{"symbol":"SCNN1G","name":"sodium channel epithelial 1 subunit gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21658649[PMID]_18507830[PMID]","hgnc":"10602","ensembl":"ENSG00000166828","omim":"600761","loci":["16p12.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.8,"area":"Finland","status":"Validated","source":"9787927[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":29.0,"area":"Finland","status":"Validated","source":"9787927[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":29.0,"area":"Europe","status":"Validated","source":"9787927[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-27","source":"31086836[PMID]_28630359[PMID]_29247616[PMID]","terms":[{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002795","label":"Abnormal respiratory system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031245","label":"Productive cough","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011947","label":"Respiratory tract infection","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030830","label":"Crackles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005376","label":"Recurrent Haemophilus influenzae infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002783","label":"Recurrent lower respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030877","label":"Reduced FEV1/FVC ratio","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030828","label":"Wheezing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011949","label":"Acute infectious pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002097","label":"Emphysema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100812","label":"Halitosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001217","label":"Clubbing","frequency":"Very rare (<4-1%)","criteria":null}]}}