{"orpha":91352,"name":"Germinoma of the central nervous system","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare primary germ cell tumor of central nervous system characterized by a space-occupying lesion usually arising in structures around the third ventricle, most commonly the region of the pineal gland and the suprasellar compartment. It is composed of uniform cells resembling primitive germ cells. Clinical manifestations depend on the tumor site and include hydrocephalus, visual disturbances, and endocrine abnormalities. Prognosis is favorable in pure germinomas due to high radiosensitivity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91352/","orphanet_url":"https://www.orpha.net/en/disease/detail/91352","names":{"fr":{"name":"Germinome du système nerveux central","definition":"Tumeur germinale primaire rare du système nerveux central, caractérisée par une lésion expansive apparaissant généralement dans les structures situées autour du troisième ventricule, le plus souvent dans la région de la glande pinéale et dans le compartiment suprasellaire. Elle se compose de cellules uniformes dont l'aspect rappelle celui des cellules germinales primitives. En fonction de la région touchée, les manifestations cliniques sont : hydrocéphalie, troubles visuels et anomalies endocriniennes. Le pronostic est favorable dans les germinomes purs en raison d'une radiosensibilité élevée."},"de":{"name":"Germinom des Zentralnervensystems","definition":"Ein primärer Keimzelltumor des Zentralnervensystems, der durch eine raumfordernde Läsion gekennzeichnet ist, die in der Regel in Strukturen um den dritten Ventrikel herum entsteht, am häufigsten in der Region der Zirbeldrüse und des suprasellaren Kompartiments. Er besteht aus einheitlichen Zellen, die primitiven Keimzellen ähneln. Die klinischen Manifestationen hängen von der Tumorstelle ab und umfassen Hydrozephalus, Sehstörungen und endokrine Anomalien. Die Prognose ist bei reinen Germinomen aufgrund der hohen Strahlensensitivität günstig."},"es":{"name":"Germinoma del sistema nervioso central","definition":"Es un tumor poco frecuente de células germinales del sistema nervioso primario caracterizado por una lesión ocupante de espacio que, por lo general, se origina en las estructuras adyacentes al tercer ventrículo, principalmente en la región de la glándula pineal y del compartimento supraselar. Está compuesto por células uniformes similares a las células germinales primitivas. Las manifestaciones clínicas dependen de la localización del tumor, e incluyen hidrocefalia, trastornos visuales y anomalías endocrinas. El pronóstico es favorable en los germinomas puros debido a la alta radiosensibilidad."},"it":{"name":"Germinoma del sistema nervoso centrale","synonyms":["Germinoma intracranico"],"definition":"Si tratta di un tumore primitivo raro a cellule germinali del sistema nervoso centrale, caratterizzato da una lesione voluminosa che di solito origina dalle strutture attorno al terzo ventricolo, per lo più nella regione della ghiandola pineale nel compartimento soprasellare. È composto da cellule uniformi che assomigliano alle cellule germinali primitive. Il quadro clinico dipende dalla localizzazione del tumore e comprende l'idrocefalo, i deficit visivi e le anomalie endocrine. La prognosi dei germinomi puri è buona a causa della loro elevata radiosensibilità."},"nl":{"name":"Germinoom van centraal zenuwstelsel","definition":"Een zeldzame, primaire kiemceltumor van centraal zenuwstelsel, gekarakteriseerd door een ruimte-innemende laesie die meestal ontstaat in structuren rond het derde ventrikel, doorgaans ter hoogte van pijnappelklier en suprasellair compartiment. De tumor bestaat uit uniforme cellen die lijken op primitieve kiemcellen. Klinische manifestaties zijn afhankelijk van de locatie van de tumor, en omvatten hydrocefalie, visuele stoornissen, en endocriene afwijkingen. De prognose is gunstig in geval van zuivere germinomen vanwege de hoge gevoeligheid voor bestraling."},"pt":{"name":"Germinoma do cérebro"},"pl":{"name":"Zarodczak centralnego układu nerwowego","synonyms":["Wewnątrzczaszkowa germinoma"]},"cs":{"name":"Germinom centrálního nervového systému","synonyms":["Intrakraniální germinom"]},"uk":{"name":"Гермінома центральної нервової системи","definition":"A rare primary germ cell tumor of central nervous system characterized by a space-occupying lesion usually arising in structures around the third ventricle, most commonly the region of the pineal gland and the suprasellar compartment. It is composed of uniform cells resembling primitive germ cells. Clinical manifestations depend on the tumor site and include hydrocephalus, visual disturbances, and endocrine abnormalities. Prognosis is favorable in pure germinomas due to high radiosensitivity."},"zh":{"name":"中枢神经系统生殖细胞瘤"},"tr":{"name":"Merkezi sinir sistemi germinomu"}},"xrefs":[{"source":"ICD-10","code":"C72.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A00.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"191840017"},{"source":"UMLS","code":"C1333813","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10065852","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":182127,"name":"Extragonadal germinoma","classifications":[202,233]},{"orpha":95503,"name":"Pituitary hormone deficiency of tumoral origin","classifications":[193]},{"orpha":251995,"name":"Primary germ cell tumor of central nervous system","classifications":[181,202,233]}],"children":[],"genes":[{"symbol":"JMJD1C","name":"jumonji domain containing 1C","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24896186[PMID]","hgnc":"12313","ensembl":"ENSG00000171988","omim":"604503","loci":["10q21.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[],"phenotypes":null}