{"orpha":876,"name":"Yolk sac tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Endodermal sinus tumor"],"definition":"A rare germ cell tumor characterized by multiple patterns reflecting endodermal extraembryonal differentiation (secondary yolk sac and allantois) or endodermal somatic tissues (intestine, liver, and mesenchyme). The tumors most commonly occur in the second or third decade of life. They are typically located in the gonads, occasionally also in other regions. Patients present with a pelvic mass and/or abdominal pain (females) or an often painless, unilateral testicular mass (males). Elevated serum alpha fetoprotein is a common laboratory finding.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-876/","orphanet_url":"https://www.orpha.net/en/disease/detail/876","names":{"fr":{"name":"Tumeur du sac vitellin","synonyms":["Tumeur du sinus endodermique"],"definition":"Tumeur germinale rare différenciée dans le sens extra-embryonnaire reproduisant les structures endodermiques (sac vitellin secondaire et allantoïde) ou les tissus somatiques endodermiques (intestin, foie et mésenchyme). Les tumeurs apparaissent le plus souvent au cours de la deuxième ou troisième décennie de vie. Elles sont généralement situées dans les gonades, mais parfois aussi dans d'autres régions du corps. Les femmes présentent une masse pelvienne et/ou des douleurs abdominales et les hommes une masse testiculaire unilatérale, souvent indolore. Un taux élevé d'alpha-foetoprotéine au dosage sérique est courant."},"de":{"name":"Dottersacktumor","synonyms":["Tumor des Sinus endodermalis"],"definition":"Ein seltener Keimzelltumor, der durch mehrere Strukturmerkmale gekennzeichnet ist, die eine endodermale extraembryonale Differenzierung (sekundärer Dottersack und Allantois) oder endodermale somatische Gewebe (Darm, Leber und Mesenchym) widerspiegeln. Die Tumoren treten am häufigsten im zweiten oder dritten Lebensjahrzehnt auf. Sie sind typischerweise in den Keimdrüsen lokalisiert, gelegentlich auch in anderen Regionen. Die Patienten stellen sich mit einer Gewebeverdichtung im Becken und/oder Unterleibsschmerzen (bei Frauen) oder einer oft schmerzlosen, einseitigen Hodenverdichtung (bei Männern) vor. Erhöhtes Alpha-Fetoprotein im Serum ist ein häufiger Laborbefund."},"es":{"name":"Tumor de saco vitelino","synonyms":["Tumor de seno endodérmico"],"definition":"Es un tumor de células germinales poco frecuente caracterizado por múltiples patrones que muestran diferenciación extraembrionaria endodérmica (saco vitelino secundario y alantoides) o tejidos somáticos endodérmicos (intestino, hígado y mesénquima). Los tumores aparecen con mayor frecuencia en la segunda o tercera década de la vida. Por lo general, se localizan en las gónadas aunque, ocasionalmente, pueden desarrollarse en otras regiones. Los pacientes se presentan con una masa pélvica y/o dolor abdominal (mujeres) o una masa testicular unilateral a menudo indolora (varones). Los niveles elevados de alfafetoproteína sérica son un hallazgo de laboratorio frecuente."},"it":{"name":"Tumore del sacco vitellino","synonyms":["Tumore del seno endodermico"],"definition":"Si tratta di un tumore raro a cellule germinali, caratterizzato da differenziazione extraembrionale endodermica (sacco vitellino secondario e allantoide) o dei tessuti somatici endodermici (intestino, fegato e mesenchima). Di solito i tumori si manifestano nella seconda o terza decade di vita; si localizzano nelle gonadi e solo occasionalmente in altre regioni. I pazienti presentano una massa pelvica e/o dolore addominale (femmine), oppure una massa testicolare monolaterale, spesso indolore (maschi). È comune l'aumento dell'alfa-fetoproteina nel siero."},"nl":{"name":"Dooierzaktumor","synonyms":["Tumor van endodermale sinus"],"definition":"Een zeldzame kiemceltumor, gekarakteriseerd door verschillende patronen die endodermale extra-embryonale differentiatie (secundaire dooierzak en allantoïs) of endodermale somatische weefsels (darm, lever, en mesenchym) weerspiegelen. De tumoren treden doorgaans op in het tweede of derde levensdecennium. Doorgaans zijn ze gesitueerd in de gonaden, maar soms ook in andere lichaamsdelen. Patiënten present eren zich met een massa in het bekken en/of abdominale pijn (vrouwen) of een vaak pijnloze, unilaterale massa in een teelbal (mannen). Verhoogd gehalte van alfafoetoproteïne is een gangbare laboratoriumbevinding."},"pt":{"name":"Tumor do saco vitelino","synonyms":["Tumor do seio endodérmico"]},"pl":{"name":"Guz pęcherzyka żółtkowego","synonyms":["guz pęcherzyka żółtkowego"]},"cs":{"name":"Nádor ze žloutkového váčku","synonyms":["Endodermální nádor dutiny nosní"]},"uk":{"name":"Пухлина жовткового мішка","synonyms":["Ендодермальна пухлина пазухи"],"definition":"A rare germ cell tumor characterized by multiple patterns reflecting endodermal extraembryonal differentiation (secondary yolk sac and allantois) or endodermal somatic tissues (intestine, liver, and mesenchyme). The tumors most commonly occur in the second or third decade of life. They are typically located in the gonads, occasionally also in other regions. Patients present with a pelvic mass and/or abdominal pain (females) or an often painless, unilateral testicular mass (males). Elevated serum alpha fetoprotein is a common laboratory finding."},"zh":{"name":"卵黄囊瘤","synonyms":["内胚窦瘤"]},"tr":{"name":"Yolk kesesi tümörü","synonyms":["Endodermal sinüs tümörü"]}},"xrefs":[{"source":"OMIM","code":"273300","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C56","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-10","code":"C62.9","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2C73.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1857446965"},{"source":"ICD-11","code":"2F34","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1179897801"},{"source":"ICD-11","code":"XH09W7","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1084215767"},{"source":"MONDO","code":"0005744","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018240","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0014145","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"348","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10048251","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":99913,"name":"Extragonadal non-dysgerminomatous germ cell tumor","classifications":[202,233]}],"children":[{"orpha":252006,"name":"Yolk sac tumor of central nervous system","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}