{"orpha":251643,"name":"Myxopapillary ependymoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251643/","orphanet_url":"https://www.orpha.net/en/disease/detail/251643","names":{"fr":{"name":"Ependymome myxopapillaire","definition":"L'épendymome myxopapillaire décrit un épendydome lentement progressif situé presqu'exclusivement dans la région du cône médullaire - queue de cheval - filum terminal de la moelle épinière, et survenant à toutes les tranches d'âge. Il se manifeste par des signes variables tels qu'une douleur cervicale, des vomissements, une démarche instable et des métastases. Il est observé dans la population pédiatrique et a une évolution plus agressive."},"de":{"name":"Ependymom, myxopapilläres","definition":"Das myxopapilläre Ependymom (MEPN) ist ein langsam wachsendes Ependymom, das fast ausschließlich in der Region Conus medullaris-Cauda equina-Filum terminale des Rückenmarks lokalisiert ist. Es tritt in allen Altersgruppen auf und äußert sich durch unterschiedliche Symptome wie Nackenschmerzen, Erbrechen, Gangunsicherheit und Metastasenbildung. Es hat einen aggressiveren Krankheitsverlauf und kommt in der pädiatrischen Bevölkerung vor."},"es":{"name":"Ependimoma mixopapilar","definition":"El ependimoma mixopapilar (MEPN) es un ependimoma de crecimiento lento (consulte este término) localizado casi exclusivamente en el cono medular, cauda equina y filum terminale de la médula espinal. Se presenta en todos los grupos de edad, manifestándose con síntomas variables tales como dolor de cuello, vómitos y marcha inestable y metástasis. El curso de la enfermedad es más agresivo y ha sido descrito en población pediátrica."},"it":{"name":"Ependimoma mixopapillare","definition":"L'ependimoma mixopapillare (MEPN) definisce un ependimoma a progressione lenta (si veda questo termine), localizzato quasi esclusivamente nella regione cono midollare-cauda equina-filo terminale del midollo spinale. Esordisce a tutte le età con segni variabili come il dolore al collo, il vomito, l'andatura instabile e le metastasi. Ha un decorso più aggressivo e si osserva nella popolazione pediatrica."},"nl":{"name":"Myxopapillair ependymoom","definition":"Myxopapillair ependymoom (MEPN) beschrijft een traag groeiend ependymoom dat bijna altijd in de conus medullaris-cauda equina-filum terminale regio van het ruggenmerg is gesitueerd. MEPN komt voor in alle leeftijdsgroepen en manifesteert zich met variabele symptomen zoals pijn in de nek, braken, onstabiele tred en metastase. Het heeft een agressiever ziekteverloop en wordt waargenomen in de pediatrische populatie."},"pt":{"name":"Ependimona mixopapilar"},"pl":{"name":"Wyściółczak śluzakowobrodawczakowaty"},"cs":{"name":"Myxopapilární ependymom"},"uk":{"name":"Міксопапілярна епендимома","definition":"Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population."},"zh":{"name":"黏液乳头状室管膜瘤","definition":"黏液乳头状室管膜瘤(MEPN)是一种生长缓慢的室管膜瘤，几乎完全位于脊髓的圆锥-马尾-丝状体终末区域，各年龄段均有表现，表现为颈部疼痛、呕吐、步态不稳和转移等。它的病程更具侵袭性，见于儿童人群。"},"tr":{"name":"Miksopapiller ependimom"}},"xrefs":[{"source":"ICD-10","code":"D43.2","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2A00.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"477941577"},{"source":"ICD-11","code":"2A00.5","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2055976319"},{"source":"ICD-11","code":"XH15U1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1847417141"},{"source":"MONDO","code":"0016699","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0205769","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10633","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":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","All ages","Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"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":"2019-03-06","source":"16206735[PMID]_6695856[PMID]_18357830[PMID]_29054328[PMID]_6895163[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:0031938","label":"Abnormal conus terminalis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012700","label":"Abnormal large intestine physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005341","label":"Autonomic bladder dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030833","label":"Neck pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100006","label":"Neoplasm of the central nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005107","label":"Abnormal sacrum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000372","label":"Abnormality of the auditory canal","frequency":"Very rare (<4-1%)","criteria":null}]}}