{"orpha":3471,"name":"Young syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Azoospermia-sinopulmonary infections syndrome","Sinusitis-infertility syndrome"],"definition":"A rare respiratory disease characterized by recurrent sinopulmonary infections and bronchiectasis predominantly in the lower lung fields, as well as azoospermia with reduced fertility, due to production of thick, viscous mucus which causes mild airflow obstruction in the respiratory tract and obstruction of sperm transport in the genital tract. Patients commonly present in adulthood. Sweat gland and pancreatic function are normal. The cause of the syndrome is unknown, however mercury exposure had been proposed as a potential cause.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3471/","orphanet_url":"https://www.orpha.net/en/disease/detail/3471","names":{"fr":{"name":"Syndrome de Young","synonyms":["Syndrome d'azoospermie-infections pulmonaires-sinusite","Syndrome de sinusite-infertilité"],"definition":"Maladie respiratoire rare caractérisée par des infections sinopulmonaires récurrentes et des bronchectasies affectant principalement les champs pulmonaires inférieurs, ainsi que par une azoospermie et une fertilité réduite, due à la production d'un mucus épais et visqueux qui provoque une légère obstruction de la circulation de l'air dans les voies respiratoires et une obstruction du transport des spermatozoïdes dans les voies génitales. La maladie se déclare généralement à l'âge adulte. Les fonctions des glandes sudoripares et du pancréas sont normales. La cause du syndrome est inconnue, mais l'exposition au mercure a été avancée comme cause potentielle."},"de":{"name":"Young-Syndrom","synonyms":["Azoospermie-sinopulmonale Infektionen-Syndrom","Syndrom der Sinusitis und Unfruchtbarkeit"],"definition":"Eine seltene Atemwegserkrankung, die durch rezidivierende sinopulmonale Infektionen und Bronchiektasen, hauptsächlich in den unteren Lungenabschnitten, sowie durch Azoospermie mit verminderter Fertilität gekennzeichnet ist, die auf die Produktion von zähem, viskosem Schleim zurückzuführen ist, der den Luftstrom in den Atemwegen und den Spermientransport im Genitaltrakt leicht behindert. Die Erkrankung tritt meist im Erwachsenenalter auf. Schweißdrüsen- und Bauchspeicheldrüsenfunktion sind normal. Die Ursache des Syndroms ist unbekannt, jedoch wurde eine Quecksilberbelastung als mögliche Ursache vorgeschlagen."},"es":{"name":"Síndrome de Young","synonyms":["Síndrome de azoospermia-infecciones sinopulmonares","Síndrome de sinusitis-infertilidad"],"definition":"Es una enfermedad respiratoria poco frecuente caracterizada por infecciones sinopulmonares recurrentes y bronquiectasias predominantemente en los campos pulmonares inferiores, así como azoospermia con fertilidad reducida, debido a la producción de mucosidad espesa y viscosa que causa una ligera obstrucción del flujo de aire en el tracto respiratorio y del transporte de espermatozoides en el tracto genital. La enfermedad suele debutar en la edad adulta. La función de las glándulas sudoríparas y del páncreas no se ve alterada. La causa del síndrome es desconocida, aunque se ha propuesto la exposición al mercurio como una causa potencial."},"it":{"name":"Sindrome di Young","synonyms":["Sindrome azoospermia-infezioni sinopolmonari","Sindrome sinusite-infertilità"]},"nl":{"name":"Syndroom van Young","synonyms":["Azoöspermie - sinopulmonale infecties-syndroom","Sinusitis - infertiliteit-syndroom"],"definition":"Een zeldzame respiratoire aandoening, gekenmerkt door recidiverende sinopulmonale infecties en bronchiëctasie in hoofdzakelijk onderste delen van long, alsook azoöspermie met verminderde fertiliteit, als gevolg van productie van dikke, viskeuze mucus die leidt tot milde obstructie van de luchtstroom in de luchtwegen en obstructie van transport van sperma in het genitale stelsel. Patiënten presenteren zich doorgaans in de volwassenheid. De functies van zweetklieren en pancreas zijn normaal. De oorzaak van het syndroom is niet gekend, maar blootstelling aan kwik werd geopperd als een mogelijke oorzaak."},"pt":{"name":"Síndrome Young","synonyms":["Síndrome de azoospermia-infeções sinopulmonares","Síndrome de sinusite-infertilidade"],"definition":"Doença respiratória rara caracterizada por infeções sinopulmonares recorrentes e bronquiectasias predominantemente nos campos pulmonares inferiores, bem como azoospermia com fertilidade reduzida, devido à produção de muco espesso e viscoso que causa obstrução ligeira do fluxo de ar no trato respiratório e obstrução do transporte de espermatozoides no trato genital. Os doentes habitualmente são diagnosticados na idade adulta. As glândulas sudoríparas e a função pancreática são normais. A causa da síndrome é desconhecida, no entanto a exposição ao mercúrio tem sido proposta como uma potencial causa."},"pl":{"name":"Zespół Younga","synonyms":["Azoospermia - infekcje zatoki płuc"],"definition":"Rzadka choroba układu oddechowego charakteryzująca się nawracającymi infekcjami zatok i płuc oraz rozstrzeniami oskrzeli, głównie w dolnych polach płuc, a także azoospermią objawiającą się obniżoną płodnością na skutek wytwarzania gęstego, lepkiego śluzu, który powoduje łagodne utrudnienie przepływu powietrza w drogach oddechowych oraz zaburzenia transportu plemników w drogach rodnych. Pacjenci często zgłaszają się w wieku dorosłym. Funkcja gruczołów potowych i trzustki jest prawidłowa."},"cs":{"name":"Youngův syndrom","synonyms":["Syndrom zahrnující azoospermii a sinopulmonární infekci"]},"uk":{"name":"Синдром Юнга","synonyms":["Синдром азооспермії та синьо-легеневих інфекцій","Синдром синуситу-безпліддя"],"definition":"A rare respiratory disease characterized by recurrent sinopulmonary infections and bronchiectasis predominantly in the lower lung fields, as well as azoospermia with reduced fertility, due to production of thick, viscous mucus which causes mild airflow obstruction in the respiratory tract and obstruction of sperm transport in the genital tract. Patients commonly present in adulthood. Sweat gland and pancreatic function are normal. The cause of the syndrome is unknown, however mercury exposure had been proposed as a potential cause."},"zh":{"name":"Young 综合征","synonyms":["无精子症-窦肺感染综合征"]},"tr":{"name":"Young sendromu","synonyms":["Azospermi-sinopulmoner enfeksiyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"279000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N46","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CB40.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1628320490"},{"source":"MONDO","code":"0010220","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536718","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0340037","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"341","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10063689","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1301,"name":"Bronchiectasis-oligospermia syndrome","status":"inactive"}],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"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":101944,"name":"Rare pulmonary disease","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-10-02","source":"30969689[PMID]_36196705[PMID]","terms":[{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011962","label":"Obstructive azoospermia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002837","label":"Recurrent bronchitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005425","label":"Recurrent sinopulmonary infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006536","label":"Airway obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034315","label":"Chronic cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002257","label":"Chronic rhinitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011109","label":"Chronic sinusitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100582","label":"Nasal polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032341","label":"Reduced forced vital capacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003251","label":"Male infertility","frequency":"Occasional (29-5%)","criteria":null}]}}