{"orpha":251912,"name":"Pineocytoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251912/","orphanet_url":"https://www.orpha.net/en/disease/detail/251912","names":{"fr":{"name":"Pinéocytome","definition":"Le pinéocytome est la forme la moins agressive de tumeur du parenchyme pinéal, se présentant par des signes tels qu'un syndrome de Parinaud (un groupe d'anomalies du mouvement oculaire et de dysfonction pupillaire, incluant un déficit d'élévation du regard et un nystagmus de convergence-rétraction), des céphalées, un trouble de l'équilibre, une incontinence urinaire et des troubles de l'humeur, qui ne se propagent pas de manière diffuse. Il est habituellement associé à un bon pronostic."},"de":{"name":"Pineozytom"},"es":{"name":"Pineocitoma","definition":"El pineocitoma es la forma menos agresiva de los tumores del parénquima pineal. Se manifiesta con síntomas como el síndrome de Parinaud (un grupo de anomalías en el movimiento ocular y disfunción de la pupila, incluyendo anomalías del movimiento ocular hacia arriba y nistagmo de convergencia-retracción), dolores de cabeza, deterioro del equilibrio, incontinencia urinaria y cambios de humor. No parece diseminarse de manera difusa y suele estar asociado con un pronóstico favorable."},"it":{"name":"Pineocitoma","definition":"Il pineocitoma è la forma meno aggressiva di tumore del parenchima pineale, che presenta sintomi come la sindrome di Parinaud (un gruppo di condizioni caratterizzate da anomalie dei movimenti oculari e disfunzione della pupilla, compresa la limitazione dello sguardo verso l'alto e il nistagmo con retrazione e convergenza), cefalee, disturbi dell'equilibrio, incontinenza urinaria e cambiamenti dell'umore. Si ritiene che questi sintomi non si propaghino in maniera diffusa. Il tumore si associa di solito a una buona prognosi."},"nl":{"name":"Pineocytoom","definition":"Pineocytoom is de minst agressieve vorm van pineale parenchymale tumor en manifesteert zich met symptomen als Parinaudsyndroom (een groep van afwijkingen aan de oogbeweging en stoornissen aan de pupil, waaronder moeite om naar boven te kijken en convergentie-retractie nystagmus), hoofdpijn, evenwichtsstoornissen, incontinentie, en stemmingswissels. Deze tumor lijkt zich niet op een diffuse manier te verspreiden en doorgaans is de ziekte geassocieerd met een goede prognose."},"pt":{"name":"Pineocitoma"},"pl":{"name":"Szyszyniak"},"cs":{"name":"Pineocytom"},"uk":{"name":"Пінеоцитома","definition":"Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis."},"zh":{"name":"松果体细胞瘤","definition":"松果体细胞瘤是松果体实质肿瘤中侵袭性最小的一种，表现为帕里诺综合征(一组眼球运动异常和瞳孔功能障碍，包括向上凝视不足和收敛-回缩眼球震颤)、头痛、平衡障碍、小便失禁和情绪变化，该类肿瘤不会以扩散的方式转移。它们通常与良好的预后相关。"},"tr":{"name":"Pineositom"}},"xrefs":[{"source":"ICD-10","code":"D44.5","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2A00.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2055142333"},{"source":"ICD-11","code":"XH1K94","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"629228914"},{"source":"MONDO","code":"0016723","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0917890","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8207","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10035059","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":251905,"name":"Pineal tumor of neuroepithelial tissue","classifications":[181,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult","Elderly"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-12","source":"10668895[PMID]_6986979[PMID]_20136388[PMID]_19329860[PMID]","terms":[{"hpo":"HP:0002315","label":"Headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030531","label":"Altitudinal visual field defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002131","label":"Episodic ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Occasional (29-5%)","criteria":null}]}}