{"orpha":251636,"name":"Ependymoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Classic ependymoma"],"definition":"Ependymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of the cerebral ventricles, corticle rests and central canal of the spinal cord, and manifest with variable symptoms such headache, vomiting, seizures, focal neurological signs and loss of vision and can cause obstructive hydrocephalus in some cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251636/","orphanet_url":"https://www.orpha.net/en/disease/detail/251636","names":{"fr":{"name":"Ependymome","synonyms":["Ependymome classique"],"definition":"L'épendymome est la tumeur intramédullaire la plus fréquente chez l'adulte (mais il représente seulement 10-12% des tumeurs pédiatriques du système nerveux central), et peut être bénin ou anaplasique. L'épendymome est issu des cellules épendymaires des ventricules cérébraux, des inclusions corticales et du canal central de la moelle épinière. Ses manifestations sont variables et incluent des céphalées, des vomissements, des convulsions, des signes neurologiques focaux et une perte de la vision. Il peut conduire à une hydrocéphalie obstructive dans certains cas."},"de":{"name":"Ependymom","synonyms":["Klassisches Ependymom"],"definition":"Das Ependymom ist der häufigste intramedulläre Tumor bei Erwachsenen (macht aber nur 10-12 % der pädiatrischen Tumoren des zentralen Nervensystems aus) und kann gutartig oder anaplastisch sein. Ependymome entstehen aus den Ependymzellen der Hirnventrikel, der Rindenreste und des zentralen Rückenmarkskanals und äußern sich durch unterschiedliche Symptome wie Kopfschmerzen, Erbrechen, Krampfanfälle, fokale neurologische Symptome und Sehstörungen und können in einigen Fällen einen obstruktiven Hydrozephalus verursachen."},"es":{"name":"Ependimoma","synonyms":["Ependimoma clásico"],"definition":"El ependimoma es el tumor intramedular más frecuente en adultos (mientras que sólo representa el 10-12% de los tumores del sistema nervioso central pediátricos) y puede ser benigno o anaplásico. El ependimoma se origina en las células ependimarias de los ventrículos cerebrales, los restos corticales y el canal central de la médula espinal, y se manifiesta con síntomas variables como dolor de cabeza, vómitos, convulsiones, signos neurológicos focales y pérdida de visión, pudiendo causar hidrocefalia obstructiva en algunos casos."},"it":{"name":"Ependimoma","definition":"L'ependimoma è il tumore intramidollare più frequente negli adulti (10-12% dei tumori pediatrici del sistema nervoso centrale), e può essere benigno o anaplastico. L'ependimoma origina dalle cellule ependimali dei ventricoli cerebrali, dai resti corticali e dal canale centrale del midollo spinale. Si manifesta con sintomi variabili come la cefalea, il vomito, le crisi epilettiche, segni neurologici focali e la perdita della vista. In alcuni casi, può causare idrocefalo ostruttivo."},"nl":{"name":"Ependymoom","synonyms":["Klassiek ependymoom"],"definition":"Ependymoom is de meest voorkomende intramedullaire tumor in volwassenen (maar vertegenwoordigt slechts 10-12% van de pediatrische tumoren van het centrale zenuwstelsel), en kan goedaardig of anaplastisch zijn. Ependymoom ontstaat uit de ependymcellen van de hersenkamers (ventrikels), corticale resten en het centrale kanaal van het ruggenmerg, en manifesteert zich met variabele symptomen zoals hoofdpijn, braken, insulten, focale neurologische symptomen en visuele handicap. In sommige gevallen kan obstructieve hydrocefalus (waterhoofd) veroorzaakt worden."},"pt":{"name":"Ependimona"},"pl":{"name":"Wyściółczak","synonyms":["Classic ependymoma"]},"cs":{"name":"Ependymom","synonyms":["Classic ependymoma"]},"uk":{"name":"Епендимома","synonyms":["Класична епендимома"],"definition":"Ependymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of the cerebral ventricles, corticle rests and central canal of the spinal cord, and manifest with variable symptoms such headache, vomiting, seizures, focal neurological signs and loss of vision and can cause obstructive hydrocephalus in some cases."},"zh":{"name":"室管膜瘤","synonyms":["经典型室管膜瘤"],"definition":"室管膜瘤是成人最常见的髓内肿瘤(但仅占儿童中枢神经系统肿瘤的10-12%)，可以是良性的，也可以是间变性的。室管膜瘤起源于脑室室管膜细胞、早期皮质和脊髓中央管，表现为各种症状，如头痛、呕吐、癫痫、局灶性神经体征和视力丧失，在某些情况下可导致梗阻性脑积水。"},"tr":{"name":"Ependimom","synonyms":["Klasik ependimom"]}},"xrefs":[{"source":"ICD-10","code":"D43.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A00.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016698","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D004806","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0014474","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6353","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10014967","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":301,"name":"Ependymal tumor","classifications":[181,202]}],"children":[],"genes":[{"symbol":"ZFTA","name":"zinc finger translocation associated","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"24553141[PMID]","hgnc":"28449","ensembl":"ENSG00000188070","omim":"615699","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.16,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-19","source":"29054328[PMID]_29309981[PMID]_30102193[PMID]_24615997[PMID]_25957762[PMID]_28895660[PMID]","terms":[{"hpo":"HP:0002888","label":"Ependymoma","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0025461","label":"Abnormal cell morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012534","label":"Dysesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010302","label":"Spinal cord tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030693","label":"Supratentorial neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100013","label":"Neoplasm of the breast","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002896","label":"Neoplasm of the liver","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100615","label":"Ovarian neoplasm","frequency":"Very rare (<4-1%)","criteria":null}]}}