{"orpha":251915,"name":"Papillary tumor of the pineal region","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PTPR"],"definition":"Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251915/","orphanet_url":"https://www.orpha.net/en/disease/detail/251915","names":{"fr":{"name":"Tumeur papillaire de la région pinéale","synonyms":["PTPR"],"definition":"La tumeur papillaire de la région pinéale est un néoplasme très rare de la région pinéale qui serait issu des épendymocytes spécialisés de l'organe sous-commissural. Elle se manifeste par des troubles visuels, des céphalées, une perte de la coordination et de l'équilibre, des nausées et des vomissements, causés par une hydrocéphalie obstructive."},"de":{"name":"Papillärer Tumor der Pinealisregion","synonyms":["PTPR"]},"es":{"name":"Tumor papilar de la región pineal","synonyms":["TPRP"],"definition":"El tumor papilar de la región pineal (PTPR) es una neoplasia muy poco frecuente de la región pineal que se cree que deriva de los ependimocitos especializados del órgano subcomisural y que se manifiesta con alteraciones visuales, dolores de cabeza, pérdida de coordinación y equilibrio, nauseas y vómito debido a una hidrocefalia obstructiva."},"it":{"name":"Tumore papillare della regione pineale","definition":"Il tumore papillare della regione pineale (PTPR) è una neoplasia molto rara della regione pineale, che si ritiene origini dagli ependimociti specializzati dell'organo subcommissurale. Si manifesta con disturbi visivi, cefalee, perdita della coordinazione e dell'equilibrio, nausea e vomito da idrocefalo ostruttivo."},"nl":{"name":"Papillaire tumor van pinealisregio","synonyms":["PTPR"],"definition":"Papillaire tumor van het pineale gebied (PTPR) is een zeer zeldzaam neoplasma van de epifysaire regio dat verondersteld wordt te ontstaan uit gespecialiseerde ependymocyten van het subcommissuraal orgaan en zich manifesteert met visuele stoornissen, hoofdpijn, coördinatie- en evenwichtsverlies, misselijkheid en braken door obstructieve hydrocefalus."},"pt":{"name":"Tumor papilar da região pineal"},"pl":{"name":"Guz brodawkowaty okolicy szyszynki","synonyms":["PTPR"]},"cs":{"name":"Papilární nádor pineální oblasti","synonyms":["PTPR"]},"uk":{"name":"Папілярна пухлина шишкоподібної залози","synonyms":["PTPR"],"definition":"Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus."},"zh":{"name":"松果体乳头状瘤","synonyms":["PTPR"],"definition":"松果体区乳头状瘤(PTPR)是一种非常罕见的松果体区肿瘤，被认为起源于连合下器官的特殊室管膜细胞，表现为视力障碍、头痛、协调和平衡失调、因梗阻性脑积水而恶心和呕吐。"},"tr":{"name":"Pineal bölgenin papiller tümörü","synonyms":["PTPR"]}},"xrefs":[{"source":"ICD-10","code":"D44.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A00.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1307433667"},{"source":"ICD-11","code":"XH3904","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1881658944"},{"source":"MONDO","code":"0016724","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2985219","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":["Not applicable"],"onset":["All ages"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-12","source":"17598824[PMID]_10668895[PMID]_6986979[PMID]_20136388[PMID]_1919667327[PMID]_329860[PMID]_17021405[PMID]","terms":[{"hpo":"HP:0000651","label":"Diplopia","frequency":"Very frequent (99-80%)","criteria":null},{"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}]}}