{"orpha":3347,"name":"Mounier-Kühn syndrome","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital tracheobronchomegaly","Idiopathic tracheobronchomegaly","Tracheobronchomegaly"],"definition":"A rare congenital respiratory disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3347/","orphanet_url":"https://www.orpha.net/en/disease/detail/3347","names":{"fr":{"name":"Syndrome de Mounier-Kühn","synonyms":["Trachéobronchomégalie","Trachéobronchomégalie congénitale","Trachéobronchomégalie idiopathique"],"definition":"Maladie respiratoire congénitale rare caractérisée par une dilatation importante de la trachée et des bronches proximales entraînant une altération de la clairance des sécrétions respiratoires et à des infections récurrentes des voies respiratoires inférieures."},"de":{"name":"Mounier-Kühn-Syndrom","synonyms":["Tracheobronchomegalie","Tracheobronchomegalie, idiopathische","Tracheobronchomegalie, kongenitale"],"definition":"Eine seltene angeborene Atemwegserkrankung, die durch eine ausgeprägte Dilatation der Luftröhre und der proximalen Bronchien gekennzeichnet ist und zu einer Beeinträchtigung des Sekretabflusses in den Atemwegen und wiederkehrenden Infektionen der unteren Atemwege führt."},"es":{"name":"Síndrome de Mounier-Kühn","synonyms":["Traqueobroncomegalia","Traqueobroncomegalia congénita","Traqueobroncomegalia idiopática"],"definition":"Es un trastorno respiratorio congénito poco frecuente caracterizado por una acusada dilatación de la tráquea y los bronquios proximales que provoca problemas en el aclaramiento de las secreciones de las vías respiratorias e infecciones recurrentes del tracto respiratorio inferior."},"it":{"name":"Sindrome di Mounier-Kühn","synonyms":["Tracheobroncomegalia","Tracheobroncomegalia congenita","Tracheobroncomegalia idiopatica"],"definition":"Si tratta di una malattia respiratoria congenita rara, caratterizzata da marcata dilatazione della trachea e del segmento prossimale dei bronchi, che comporta la compromissione della clearance delle secrezioni nelle vie aeree e infezioni ricorrenti delle vie aeree inferiori."},"nl":{"name":"Syndroom van Mounier-Kühn","synonyms":["Congenitale tracheobronchomegalie","Idiopathische tracheobronchomegalie","Tracheobronchomegalie"],"definition":"Een zeldzame, congenitale respiratoire aandoening, gekarakteriseerd door aanzienlijke dilatatie van de luchtpijp en proximale luchtpijpvertakkingen, wat leidt tot verstoorde verwijdering van secreten uit de luchtwegen en terugkerende infecties van onderste luchtwegen."},"pt":{"name":"Síndrome Mounier-Kühn","synonyms":["Traqueo-broncomegalia","Traqueo-broncomegalia congénita","Traqueo-broncomegalia idiopática"]},"pl":{"name":"Zespół Mouniera i Kuhna","synonyms":["Tracheobronchomegalia","Tracheobronchomegalia idiopatyczna","Tracheobronchomegalia wrodzona"]},"cs":{"name":"Mounierův-Kühnův syndrom","synonyms":["Vrozená tracheobronchomegalie","Idiopatická tracheobronchomegalie","Tracheobronchomegalie","Mounier-Kühnův syndrom"]},"uk":{"name":"Синдром Муньє-Кюна","synonyms":["Вроджена трахеобронхомегалія","Ідіопатична трахеобронхомегалія","Трахеобронхомегалія"],"definition":"A rare congenital respiratory disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections."},"zh":{"name":"Mounier-K³hn 综合征","synonyms":["特发性气管支气管肥大症"]},"tr":{"name":"Mounier-Kühn sendromu","synonyms":["Trakeobronkomegali","Doğumsal trakeobronkomegali","İdiyopatik trakeobronkomegali"]}},"xrefs":[{"source":"OMIM","code":"275300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q32.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CA27.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"230363847"},{"source":"MONDO","code":"0010148","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D014137","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0040587","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3793","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10044316","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":97955,"name":"Rare respiratory disease","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_25130790[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25130790[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012387","label":"Bronchitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006538","label":"Recurrent bronchopulmonary infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002777","label":"Tracheal stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010776","label":"Tracheobronchmegaly","frequency":"Very frequent (99-80%)","criteria":null}]}}