{"orpha":251674,"name":"Chordoid glioma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare central nervous system tumor characterized by a non-infiltrative and well-circumscribed WHO grade 2 glial neoplasm occurring in the third ventricle, often extending to hypothalamus. Chordoid glioma presents most frequently in middle-aged women with symptoms of memory deficits, headaches and visual loss, related to its location. Virtually all chordoid gliomas exhibit positivity for GFAP and TTF1 immunostaining, <i>PRKCA</i>p.D463H mutation, and a specific chordoid glioma DNA methylation class.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251674/","orphanet_url":"https://www.orpha.net/en/disease/detail/251674","names":{"fr":{"name":"Gliome chordoïde","definition":"Tumeur rare du système nerveux central caractérisée par une lésion tumorale gliale non infiltrante et bien circonscrite de grade&nbsp;2 selon la classification de l'OMS, survenant dans le troisième ventricule et s'étendant souvent à l'hypothalamus. Le gliome chordoïde touche le plus souvent les femmes d'âge moyen et se manifeste par des symptômes liés à sa localisation, tels que des troubles de la mémoire, des maux de tête et une perte de la vision. Pratiquement tous les gliomes chordoïdes présentent un immunomarquage positif à la GFAP et au TTF1, une mutation <i>PRKCA</i> p.D463H et un profil de méthylation de l'ADN spécifique aux gliomes chordoïdes."},"de":{"name":"Chordoidgliom","definition":"Ein seltener Tumor des Zentralnervensystems, der durch eine nicht infiltrative und gut abgegrenzte Glia-Neoplasie des WHO-Grades 2 gekennzeichnet ist, die im dritten Ventrikel auftritt und sich häufig bis zum Hypothalamus ausbreitet. Das Chordoidgliom tritt am häufigsten bei Frauen mittleren Alters mit Symptomen wie Gedächtnisstörungen, Kopfschmerzen und Sehverlust auf, die mit seiner Lage zusammenhängen. Praktisch alle chordoidalen Gliome sind positiv für GFAP- und TTF1-Immunfärbung, die <i>PRKCA</i>p.D463H-Mutation und eine spezifische DNA-Methylierungsklasse für chordoidale Gliome."},"es":{"name":"Glioma cordoide","definition":"Es un tumor poco frecuente del sistema nervioso central caracterizado por una neoplasia glial no infiltrante y bien delimitada, de grado 2 según la OMS, que se origina en el tercer ventrículo y a menudo se extiende al hipotálamo. El glioma cordoide se presenta con mayor frecuencia en mujeres de mediana edad, con cefaleas y síntomas de pérdida de memoria y de visión, en función de su localización. Prácticamente todos los gliomas cordoideos presentan positividad para la inmunotinción de GFAP y TTF1, la mutación p.D463H del gen <i>PRKCA</i> y una firma de metilación del ADN específica del glioma cordoide."},"it":{"name":"Glioma cordoide","definition":"Il glioma cordoide è una neoplasia gliale estremamente rara, non infiltrante e ben circoscritta, che insorge nella regione anteriore del terzo ventricolo o nell'ipotalamo. Interessa per lo più le donne di mezza età, nelle quali si può osservare perdita della memoria e cefalee. A causa della localizzazione, la malattia ha una prognosi sfavorevole dovuta alla morbilità chirurgica."},"nl":{"name":"Chordoïd glioom","definition":"Een zeldzame tumor van centraal zenuwstelsel, gekenmerkt door een niet-infiltratief en goed begrensd gliaal neoplasma met WHO-graad 2 in het derde ventrikel, vaak met uitbreiding naar de hypothalamus. Chordoïd glioom presenteert zich het vaakst bij vrouwen van middelbare leeftijd met symptomen of geheugenproblemen, hoofdpijn en verlies van gezichtsvermogen, gerelateerd aan de locatie. Nagenoeg alle chordoïd gliomen vertonen positieve immuunkleuring voor GFAP en TTF1, de mutatie p.D463H in <i>PRKCA</i>, en een profiel van DNA-methylatie specifiek voor chordoïd glioom."},"pt":{"name":"Glioma cordóide"},"pl":{"name":"Glejak struniakowy"},"cs":{"name":"Chordoidní gliom"},"uk":{"name":"Хордоїдна гліома","definition":"Chordoid glioma is an extremely rare glial neoplasm occurring in the region of the anterior third ventricle or hypothalamus, which is non-infiltrative and well-circumscribed and presents most frequently in middle-aged women with symptoms of memory loss and headaches and, because of its location, has a poor prognosis due to surgical morbidity."},"zh":{"name":"脊索样胶质瘤","definition":"脊索样胶质瘤是一种非常罕见的胶质肿瘤，发生在前第三脑室或下丘脑区域，非浸润性，边界清楚，最常见于有记忆力丧失和头痛症状的中年女性，由于其位置的原因，常常出现手术并发症，导致预后很差。"},"tr":{"name":"Kordoid gliom"}},"xrefs":[{"source":"ICD-10","code":"C71.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A00.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"658360943"},{"source":"ICD-11","code":"XH9HV1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1288818911"},{"source":"UMLS","code":"C1322252","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":717268,"name":"Circumscribed astrocytic glioma","classifications":[181,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":80.0,"area":"Worldwide","status":"Validated","source":"25648470[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"25648470[PMID]_ORPHANET"}],"phenotypes":null}