{"orpha":251975,"name":"Rosette-forming glioneuronal tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["RGNT"],"definition":"Rosette-forming glioneuronal tumor is a rare mixed neuronal-glial tumor characterized by the presence of uniform, rosette- (or pseudorosette-) forming neurocytes with an astrocytic component, together creating a biphasic pattern. It can present with signs of raised intracranial pressure (headache, vomiting, papilledema), hydrocephalus, seizures, ataxia and visual disturbances, or can be diagnosed incidentally in asymptomatic patients. The tumor usually arises in the midline, involving the fourth ventricle or the cerebellum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251975/","orphanet_url":"https://www.orpha.net/en/disease/detail/251975","names":{"fr":{"name":"Tumeur glioneuronale formant des rosettes","synonyms":["RGNT"],"definition":"Tumeur mixte neuronale- gliale rare caractérisée par la présence de neurocytes uniformes formant des rosettes (ou des pseudorosettes) avec une composante astrocytaire, le tout formant un modèle biphasique. Elle peut se manifester par des signes d'élévation de la pression intracrânienne (céphalées, vomissements, oedème papillaire), d'hydrocéphalie, de crises d'épilepsie, d'ataxie et de troubles visuels, ou être diagnostiquée fortuitement chez des patients asymptomatiques. La tumeur se développe généralement sur la ligne médiane, touchant le quatrième ventricule ou le cervelet."},"de":{"name":"Tumor, glioneuronaler rosettenbildender","synonyms":["RGNT"]},"es":{"name":"Tumor glioneuronal formador de rosetas","synonyms":["RGNT"],"definition":"Es un tumor glioneuronal mixto poco frecuente caracterizado por la presencia de neurocitos uniformes formadores de rosetas (o pseudorrosetas) con un componente astrocítico, dando lugar a un patrón bifásico. Puede presentar signos de aumento de la presión intracraneal (cefaleas, vómitos, papiledema), hidrocefalia, convulsiones, ataxia y trastornos visuales, o puede diagnosticarse de forma incidental en pacientes asintomáticos. Por lo general, el tumor surge en la línea media, afectando al cuarto ventrículo o al cerebelo."},"it":{"name":"Tumore glioneuronale formante rosette","synonyms":["DNT del cervelletto","RGNT","Tumore neuroepiteliale disembrioplastico del cervelletto"],"definition":"Il tumore glioneuronale formante rosette è una neoplasia mista rara neuronale-gliale, caratterizzata dalla presenza di neurociti uniformi che formano rosette (o pseudo-rosette) con una componente astrocitaria, con cui crea un disegno bifasico. Esordisce con i segni caratteristici dell'aumento della pressione intracranica (cefalea, vomito, papilledema), idrocefalo, crisi epilettiche, atassia e disturbi della vista, ma può anche essere diagnosticato casualmente nei pazienti asintomatici. Di solito il tumore origina dalla linea mediana e interessa il quarto ventricolo o il cervelletto."},"nl":{"name":"Rozetvormende glioneuronale tumor","synonyms":["RGNT"],"definition":"Rozetvormende glioneuronale tumor is een zeldzame gemengde neuronale-gliale tumor, en wordt gekarakteriseerd door de aanwezigheid van uniforme, rozet- (of pseudorozet-) vormende neurocyten met een astrocytische component die samen voor een bifasisch zorgen. Het kan zich presenteren met tekenen van verhoogde intracraniële druk (hoofdpijn, braken, papiloedeem), hydrocefalie, insulten, ataxie en visuele stoornissen, of kan toevallig gediagnosticeerd worden bij asymptomatische patiënten. De tumor ontstaat meestal in de middellijn, met betrokkenheid van het vierde ventrikel of het cerebellum."},"pt":{"name":"Tumor glioneuronal formador de rosetas do quarto ventrículo","synonyms":["DNT do cerebelo","RGNT","Tumor neuroepitelial disembrioplásico do cerebelo"]},"pl":{"name":"Guz neuronalno-glejowy tworzący rozety","synonyms":["DNT móżdżku","Dysembrioplastyczny guz neuroepitelialny móżdżku","RGNT"],"definition":"*Guz neuronalno-glejowy tworzący rozety jest rzadkim mieszanym guzem neuronalno-glejowym, który charakteryzuje się obecnością jednolitych neurocytów tworzących rozety (lub pseudorozety) ze składową astrocytową, które razem tworzą dwufazowy wzorzec. Mogą wystąpić objawy podwyższonego ciśnienia śródczaszkowego (ból głowy, wymioty, obrzęk tarczy nerwu wzrokowego), wodogłowie, drgawki, ataksja i zaburzenia widzenia lub diagnoza może być postawiona przypadkowo, u pacjentów bezobjawowych. Guz zwykle rośnie w linii pośrodkowej, obejmując czwartą komorę lub móżdżek."},"cs":{"name":"Rosetovitý glioneurální nádor čtvrté komory","synonyms":["RGNT","DNET mozečku","Dysembryoplastický neuroepiteliální tumor mozečku"]},"uk":{"name":"Розеткоподібна гліонейрональна пухлина","synonyms":["RGNT"],"definition":"Rosette-forming glioneuronal tumor is a rare mixed neuronal-glial tumor characterized by the presence of uniform, rosette- (or pseudorosette-) forming neurocytes with an astrocytic component, together creating a biphasic pattern. It can present with signs of raised intracranial pressure (headache, vomiting, papilledema), hydrocephalus, seizures, ataxia and visual disturbances, or can be diagnosed incidentally in asymptomatic patients. The tumor usually arises in the midline, involving the fourth ventricle or the cerebellum."},"zh":{"name":"玫瑰花形神经胶质瘤","synonyms":["RGNT"],"definition":"菊形团形成性神经胶质瘤是一种少见的神经元-神经胶质混合型肿瘤，其双相构造特征是神经细胞伴随均匀星形细胞成分，形成菊形团样结构或假菊形团样结构。它可以表现为颅内压升高(头痛、呕吐、乳头水肿)、脑积水、癫痫发作、共济失调和视力障碍的迹象，或者可以在无症状的患者中被偶然诊断。肿瘤通常发生在中线，累及第四脑室或小脑。"},"tr":{"name":"Rozet oluşturan glionöronal tümör","synonyms":["RGNT"]}},"xrefs":[{"source":"ICD-10","code":"D33.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A00.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"777819208"},{"source":"ICD-11","code":"XH2JU8","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1257410728"},{"source":"UMLS","code":"C4331262","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13593","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":251934,"name":"Mixed neuronal-glial tumor","classifications":[181,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}