{"orpha":616,"name":"Medulloblastoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare embryonic tumor of the neuroepithelial tissue characterized clinically by increased intracranial pressure and cerebellar dysfunction, with the most common presenting symptoms being headache, vomiting, and ataxia. The disease can be classified according to histological (classic, anaplastic, large-cell, or desmoplatic medulloblastoma, or medulloblastoma with extensive nodularity) and molecular criteria (WNT-activated, sonic-hedgehog-activated, group 3, group 4).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-616/","orphanet_url":"https://www.orpha.net/en/disease/detail/616","names":{"fr":{"name":"Médulloblastome","definition":"Tumeur embryonnaire rare du tissu neuro-épithélial caractérisée cliniquement par une augmentation de la pression intracrânienne et une dysfonction cérébelleuse, dont les symptômes les plus courants sont les céphalées, les vomissements et l'ataxie. La maladie peut être classée selon les critères histologiques (médulloblastome classique, anaplasique, à grandes cellules ou desmoplatique, ou médulloblastome avec nodularité étendue) et moléculaires (caractérisé par une activation de la voie, activation de la signalisation Sonic Hedgehog, groupe 3, groupe 4)."},"de":{"name":"Medulloblastom","definition":"Ein seltener embryonaler Tumor des Neuroepithelgewebes, der klinisch durch einen erhöhten Hirndruck und zerebelläre Funktionsstörungen gekennzeichnet ist, wobei Kopfschmerzen, Erbrechen und Ataxie die häufigsten Symptome sind. Die Krankheit kann nach histologischen (klassisches, anaplastisches, großzelliges oder desmoplatisches Medulloblastom oder Medulloblastom mit ausgedehnter Nodularität) und molekularen Kriterien (WNT-aktiviert, sonic-hedgehoc-aktiviert, Gruppe 3, Gruppe 4) klassifiziert werden."},"es":{"name":"Meduloblastoma","definition":"Es un tumor embrionario poco frecuente del tejido neuroepitelial caracterizado clínicamente por un aumento de la presión intracraneal y disfunción cerebelosa, siendo la cefalea, los vómitos y la ataxia los síntomas de presentación más comunes. La enfermedad se puede clasificar en base a criterios histológicos (meduloblastoma clásico, anaplásico, de células grandes o desmoplásico, o meduloblastoma con nodularidad extensa) y moleculares (WNT activado, Sonic hedgehog activado, grupo 3, grupo 4)."},"it":{"name":"Medulloblastoma","definition":"Il medulloblastoma (MB) è un tumore embrionale raro del tessuto neuroepiteliale, caratterizzato, dal punto di vista clinico, da un aumento della pressione intracranica e dalla disfunzione cerebellare. I sintomi d'esordio più comuni sono la cefalea, il vomito e l'atassia. La malattia viene classificata sulla base dei criteri istologici (forma classica, anaplastica, a grandi cellule, medulloblastoma desmoplastico, medulloblastoma con estesa nodularità) e molecolari (con attivazione di WNT, con attivazione di sonic hedgehog, gruppo 3 e gruppo 4)."},"nl":{"name":"Medulloblastoom","definition":"Een zeldzame embryonale tumor van neuro-epitheliaal weefsel, klinisch gekarakteriseerd door verhoogde intracraniële druk en cerebellaire disfunctie, met als meest gangbare symptomen hoofdpijn, braken en ataxie. De ziekte kan geclassificeerd worden volgens histologische (klassiek, anaplastisch, grootcellig, of desmoplastisch medulloblastoom, of medulloblastoom met extensieve nodulariteit) en moleculaire criteria (WNT-geactiveerd, 'sonic hedgehog'-geactiveerd, groep 3 of groep 4)."},"pt":{"name":"Meduloblastoma","synonyms":["Tumor neuro-ectodérmico primitivo"]},"pl":{"name":"Rdzeniak"},"cs":{"name":"Meduloblastom"},"uk":{"name":"Медулобластома","definition":"A rare embryonic tumor of the neuroepithelial tissue characterized clinically by increased intracranial pressure and cerebellar dysfunction, with the most common presenting symptoms being headache, vomiting, and ataxia. The disease can be classified according to histological (classic, anaplastic, large-cell, or desmoplatic medulloblastoma, or medulloblastoma with extensive nodularity) and molecular criteria (WNT-activated, sonic-hedgehog-activated, group 3, group 4)."},"zh":{"name":"髓母细胞瘤"},"tr":{"name":"Medulloblastom"}},"xrefs":[{"source":"OMIM","code":"155255","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C71.6","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2A00.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"290815825"},{"source":"MONDO","code":"0007959","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008527","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0025149","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7005","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10027107","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":251852,"name":"Embryonal tumor of neuroepithelial tissue","classifications":[181,202]}],"children":[{"orpha":251855,"name":"Anaplastic/large cell medulloblastoma","type":"Histopathological subtype"},{"orpha":251867,"name":"Classic medulloblastoma","type":"Histopathological subtype"},{"orpha":251863,"name":"Desmoplastic/nodular medulloblastoma","type":"Histopathological subtype"},{"orpha":251858,"name":"Medulloblastoma with extensive nodularity","type":"Histopathological subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":251858,"name":"Medulloblastoma with extensive nodularity"}},{"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"],"via":{"orpha":251863,"name":"Desmoplastic/nodular medulloblastoma"}}],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.11,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2010[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.74,"area":"United States","status":"Validated","source":"Central Brain Tumor OTHERistry of the United States 2004-2007[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-17","source":"18031705[PMID]_1599290[PMID]_7661930[PMID]","terms":[{"hpo":"HP:0002885","label":"Medulloblastoma","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0012658","label":"Abnormal brain FDG positron emission tomography","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001291","label":"Abnormal cranial nerve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009878","label":"Cerebellar ataxia associated with quadrupedal gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007129","label":"Cerebellar medulloblastoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004481","label":"Progressive macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005561","label":"Abnormality of bone marrow cell morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005227","label":"Adenomatous colonic polyposis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007352","label":"Cerebellar calcifications","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002350","label":"Cerebellar cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011695","label":"Cerebellar hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010302","label":"Spinal cord tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007824","label":"Total ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003006","label":"Neuroblastoma","frequency":"Very rare (<4-1%)","criteria":null}]}}