{"orpha":363489,"name":"Sex cord-stromal tumor of testis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Testicular sex cord-stromal tumor"],"definition":"A group of rare tumors of testis comprising neoplasms of pure sex cord or pure stromal type, or neoplasms with admixtures of both components in various proportions and degree of differentiation. The tumors usually present as a painless testicular mass, although some may be associated with endocrine manifestations such as precocious puberty, gynecomastia, or erectile dysfunction. Malignant behavior is seen only in a small percentage of these tumors.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363489/","orphanet_url":"https://www.orpha.net/en/disease/detail/363489","names":{"fr":{"name":"Tumeur testiculaire des cordons sexuels et du stroma","definition":"Groupe de tumeurs rares des testicules comprenant des tumeurs pures des cordons sexuels ou du stroma, des tumeurs mixtes composées d'un mélange de ces deux types de cellules cancéreuses dans des proportions variées et des degrés de différentiation variés. Les tumeurs se manifestent généralement par une masse testiculaire indolore, bien que certaines puissent être associées à des manifestations endocriniennes telles qu'une puberté précoce, une gynécomastie ou un trouble de l'érection. Seul un faible pourcentage de ces tumeurs sont malignes."},"de":{"name":"Keimstrang-Stromatumor, testikulärer","synonyms":["Keimstrang-Stromatumor des Hodens"],"definition":"Eine Gruppe von seltenen Hodentumoren, die Neoplasien des reinen Keimstrangtyps, des reinen Stromattyps oder Neoplasien mit Mischformen beider Typen in unterschiedlichen Anteilen und Differenzierungsgraden umfassen. Die Tumoren präsentieren sich in der Regel als schmerzlose Gewebsverdichtung im Hoden, obwohl einige mit endokrinen Manifestationen wie Pubertas praecox, Gynäkomastie oder erektiler Dysfunktion einhergehen können. Nur ein kleiner Prozentsatz dieser Tumoren ist bösartig."},"es":{"name":"Tumor testicular de los cordones sexuales","definition":"Es un grupo de tumores testiculares poco frecuente que comprende neoplasias puras estromales o de los cordones sexuales o bien neoplasias mixtas con ambos componentes en diversas proporciones y grados de diferenciación. Los tumores suelen presentarse como una masa testicular indolora, aunque algunos pueden asociar manifestaciones endocrinas tales como pubertad precoz, ginecomastia o disfunción eréctil. El comportamiento maligno se observa únicamente en un pequeño porcentaje de estos tumores."},"it":{"name":"Tumore testicolare dello stroma e dei cordoni sessuali","synonyms":["Tumore dello stroma e dei cordoni sessuali del testicolo"],"definition":"Si tratta di un gruppo di tumori rari dei testicoli, che comprende le neoplasie pure dei cordoni sessuali o dello stroma, e le neoplasie miste che presentano entrambe le componenti in diverse proporzioni e con differenziazione variabile. In genere i tumori si manifestano sotto forma di massa testicolare indolore, sebbene alcuni si associno a sintomi endocrini come la pubertà precoce, la ginecomastia e la disfunzione erettile. Solo una piccola percentuale di queste neoplasie è maligna."},"nl":{"name":"Sex cord-stromale tumor van testis","synonyms":["Sex cord-stromale tumor van teelbal","Testiculaire sex cord-stromale tumor"],"definition":"Een groep van zeldzame tumoren van testis, bestaande uit neoplasmata van zuiver 'sex cord'-type of zuiver stromaal type, of neoplasmata met beide componenten in verschillende proporties en mate van differentiatie. De tumoren presenteren zich meestal als een pijnloze massa van teelbal, hoewel sommigen kunnen geassocieerd zijn met endocriene manifestaties zoals vroegtijdige puberteit, gynaecomastie of erectiestoornis. Maligne gedrag wordt bij slechts een klein percentage van deze tumoren waargenomen."},"pt":{"name":"Tumor testicular do estroma dos cordões sexuais"},"pl":{"name":"Guz jądra ze sznurów płciowych i podścieliska","synonyms":["Testicular sex cord-stromal tumor"]},"cs":{"name":"Sex cord stromální nádory varlat","synonyms":["Testikulární sex cord stromální nádor"]},"uk":{"name":"Пухлина сімяного канатика-стромальна пухлина яєчка","synonyms":["Стромальна пухлина сімяного канатика яєчка"],"definition":"A group of rare tumors of testis comprising neoplasms of pure sex cord or pure stromal type, or neoplasms with admixtures of both components in various proportions and degree of differentiation. The tumors usually present as a painless testicular mass, although some may be associated with endocrine manifestations such as precocious puberty, gynecomastia, or erectile dysfunction. Malignant behavior is seen only in a small percentage of these tumors."},"zh":{"name":"睾丸性索间质瘤","synonyms":["睾丸性索间质肿瘤"]},"tr":{"name":"Testisin seks kord stromal tümörü","synonyms":["Testis cinsiyet kord stromal tümörü"]}},"xrefs":[{"source":"ICD-10","code":"D40.1","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0003125","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3840076","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":363472,"name":"Tumor of testis and paratestis","classifications":[185,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Europe","status":"Validated","source":"22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Lifetime Prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.44,"area":"Europe","status":"Validated","source":"22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.049,"area":"Austria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.048,"area":"Belgium","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.01,"area":"Bulgaria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.034,"area":"Croatia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.016,"area":"Czech Republic","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.018,"area":"Estonia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.012,"area":"Finland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Germany","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.018,"area":"Ireland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.027,"area":"Italy","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.016,"area":"Latvia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.008,"area":"Lithuania","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.022,"area":"Norway","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.013,"area":"Poland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.01,"area":"Portugal","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.037,"area":"Slovakia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.006,"area":"Slovenia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.021,"area":"Spain","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.023,"area":"Switzerland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.012,"area":"Netherlands","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.023,"area":"United Kingdom","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}