{"orpha":251858,"name":"Medulloblastoma with extensive nodularity","type":"Histopathological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MBEN"],"definition":"Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251858/","orphanet_url":"https://www.orpha.net/en/disease/detail/251858","names":{"fr":{"name":"Médulloblastome à nodularité extensive","synonyms":["MBEN"],"definition":"Le médulloblastome à nodularité extensive est un variant histologique du médulloblastome, une malignité embryonnaire située le plus souvent dans le voile médullaire inférieur et progressant ensuite dans le quatrième ventricule. Il se manifeste chez le nourrisson et le jeune enfant par des signes d'augmentation de la pression intracrânienne, tels que des céphalées, une apathie, des vomissements, une diplopie et un papilloedème. Il est souvent associé au syndrome de Gorlin et a un pronostic relativement bon."},"de":{"name":"Medulloblastom mit extensiver Nodularität","synonyms":["MBEN","Neuroblastom, zerebelläres"]},"es":{"name":"Meduloblastoma con nodularidad extensa","synonyms":["MBEN"],"definition":"El meduloblastoma con nodularidad extensa (MBEN) es una variante histológica del meduloblastoma (consulte este término), una neoplasia embrionaria. Se localiza con mayor frecuencia en el velo medular inferior, creciendo a continuación en el cuarto ventrículo. Se presenta en bebes y niños pequeños con síntomas de aumento de la presión intracraneal como dolor de cabeza, languidez, vómitos, diplopía y papiledema. Se asocia con frecuencia con el síndroma de Gorlin (consulte este término) y tiene un pronóstico relativamente favorable."},"it":{"name":"Medulloblastoma con nodularità diffusa","synonyms":["Neuroblastoma cerebrale"],"definition":"Il medulloblastoma con nodularità diffusa (MBEN) è una variante istologica del medulloblastoma (si veda questo termine), un tumore embrionale maligno, più comunemente localizzato nel velo midollare inferiore, che si estende successivamente nel quarto ventricolo. Esordisce nei neonati e nei bambini piccoli con i sintomi dell'aumento della pressione intracranica, compresa la cefalea, l'apatia, il vomito, la diplopia e il papilledema. Si associa alla sindrome di Gorlin (si veda questo termine) e ha una prognosi relativamente buona."},"nl":{"name":"Medulloblastoom met extensieve nodulariteit","synonyms":["MBEN"],"definition":"Medulloblastoom met extensieve nodulariteit (MBEN) is een histologische variant van de embryonale aandoening medulloblastoom (zie deze term) die meestal is gesitueerd in inferieure medullaire velum en verder groeit in het vierde ventrikel. MBEN komt voor in zuigelingen en jonge kinderen met symptomen van verhoogde druk in de schedel zoals hoofdpijn, lusteloosheid, braken, diplopie en papiloedeem. Het is vaak geassocieerd met Gorlinsyndroom (zie deze term) en heeft een relatief gunstige prognose."},"pt":{"name":"Meduloblastoma com nodularidade extensa","synonyms":["MBEN"]},"pl":{"name":"Rdzeniak zarodkowy o zwiększonej guzkowatości","synonyms":["Nerwiak zarodkowy móżdżku"]},"cs":{"name":"Meduloblastom s extenzivní nodularitou","synonyms":["Cerebelární neuroblastom"]},"uk":{"name":"Медулобластома з великими вузликами","synonyms":["MBEN"],"definition":"Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma (see this term), an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome (see this term) and has a relatively good prognosis."},"zh":{"name":"成神经管细胞瘤伴广泛性结节","synonyms":["MBEN"],"definition":"具有广泛结节的髓母细胞瘤(MBEN)是髓母细胞瘤(见该词条)的组织学变体，是一种胚胎恶性肿瘤，最常位于下髓膜，然后生长到第四脑室，表现为婴幼儿头痛、乏力、呕吐、复视和乳头水肿等颅内压升高的症状。它通常与Gorlin综合征有关(见该词条)，且预后相对较好。"},"tr":{"name":"Geniş nodülerite ile seyreden medulloblastom","synonyms":["MBEN"]}},"xrefs":[{"source":"OMIM","code":"155255","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C71.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A00.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1113706745"},{"source":"ICD-11","code":"XH6JN6","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1162549306"},{"source":"MONDO","code":"0016710","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1334970","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":616,"name":"Medulloblastoma","classifications":[181,202]}],"children":[],"genes":[{"symbol":"SUFU","name":"SUFU negative regulator of hedgehog signaling","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"21188540[PMID]_22508808[PMID]_12068298[PMID]_19833601[PMID]","hgnc":"16466","ensembl":"ENSG00000107882","omim":"607035","loci":["10q24.32"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood","Infancy"],"prevalence":[],"phenotypes":null}