{"orpha":2807,"name":"Papilloma of choroid plexus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CPP","Choroid plexus papilloma"],"definition":"A rare benign type of choroid plexus tumor often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2807/","orphanet_url":"https://www.orpha.net/en/disease/detail/2807","names":{"fr":{"name":"Papillome des plexus choroïdes","synonyms":["CPP"],"definition":"Type rare et bénin de tumeur des plexus choroïdes. Il survient souvent dans le quatrième ventricule (chez l'adulte) et le ventricule latéral (chez l'enfant), mais il apparaît parfois de manière ectopique dans le parenchyme cérébral. Il se manifeste par des nausées, des vomissements, un papilloedème, des mouvements oculaires anormaux, ainsi qu'une macrocéphalie, des convulsions et une démarche anormale, du fait d'une augmentation de la pression intracrânienne."},"de":{"name":"Choroid-Plexus-Papillom","synonyms":["CPP","Plexuspapillom, choroidales"],"definition":"Eine seltene gutartige Form eines Plexustumors, der häufig im vierten Ventrikel (bei Erwachsenen) und im Seitenventrikel (bei Kindern), gelegentlich aber auch ektopisch im Hirnparenchym auftritt und sich durch Übelkeit, Erbrechen, Papillenödem, abnorme Augenbewegungen, vergrößerten Kopfumfang, Krampfanfälle und Gangstörungen infolge erhöhten intrakraniellen Drucks äußert."},"es":{"name":"Papiloma del plexo coroideo","definition":"Es una forma benigna y poco frecuente de tumor del plexo coroideo que suele afectar al cuarto ventrículo (adultos) y al ventrículo lateral (niños), aunque en ocasiones se origina ectópicamente en el parénquima cerebral. Se presenta con náuseas, vómitos, papiledema y movimientos oculares anómalos, así como con aumento del perimetro cefálico, crisis epilépticas y afectación de la marcha debido a un incremento de la presión intracraneal."},"it":{"name":"Papilloma del plesso corioideo","definition":"Il papilloma del plesso corioideo è una forma rara benigna di tumore del plesso corioideo (si veda questo termine), che rappresenta l'1% di tutti i tumori cerebrali. Spesso si manifesta nel quarto ventricolo (negli adulti) e nel ventricolo laterale (nei bambini), ma occasionalmente origina ectopicamente nel parenchima cerebrale. Esordisce con nausea, vomito, papilledema, anomalie dei movimenti oculari, aumento della circonferenza cranica, crisi epilettiche e anomalie della deambulazione da aumento della pressione intracranica."},"nl":{"name":"Papilloom van plexus choroideus","synonyms":["CPP","plexus choroideus-papilloom"],"definition":"Een zeldzaam goedaardig type van tumor van plexus choroideus, dat vaak voorkomt in vierde ventrikel (bij volwassenen) en zijventrikel (bij kinderen) maar soms ook ectopisch kan ontstaan in hersenparenchym, en zich presenteert met misselijkheid, braken, papiloedeem, abnormale oogbewegingen, alsook grotere hoofdomtrek, insulten en gangstoornis als gevolg van verhoogde intracraniële druk."},"pt":{"name":"Papiloma do plexo coroideu"},"pl":{"name":"Brodawczak splotu naczyniówkowego","synonyms":["CPP","Choroid plexus papilloma"],"definition":"Rzadki, łagodny typ guza splotu naczyniówkowego, często występujący w czwartej komorze (u dorosłych) i w komorze bocznej (u dzieci), ale czasami rozwijający się ektopowo w miąższu mózgu i objawiający się nudnościami, wymiotami, obrzękiem tarczy nerwu wzrokowego, nieprawidłowymi ruchami gałek ocznych, a także jak powiększeniem obwodu głowy, drgawkami i zaburzeniami chodu z powodu wzrostu ciśnienia wewnątrzczaszkowego."},"cs":{"name":"Papilom choroidálního plexu","synonyms":["CPP","Choroid plexus papilloma"]},"uk":{"name":"Папілома судинного сплетіння","synonyms":["Папілома судинного сплетіння","CPP"],"definition":"A rare benign type of choroid plexus tumor often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure."},"zh":{"name":"脉络丛乳头状瘤","synonyms":["脉络膜丛乳头状瘤"]},"tr":{"name":"Koroid pleksus papilloması","synonyms":["CPP","Koroid pleksus papillomu"]}},"xrefs":[{"source":"OMIM","code":"260500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D33.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A00.22","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1696749652"},{"source":"MONDO","code":"0009837","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020288","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0205770","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4214","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10008777","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":251896,"name":"Choroid plexus tumor","classifications":[181,202]}],"children":[],"genes":[{"symbol":"TP53","name":"tumor protein p53","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12085209[PMID]","hgnc":"11998","ensembl":"ENSG00000141510","omim":"191170","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.003,"area":"Worldwide","status":"Validated","source":"23172371[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0012639","label":"Abnormal nervous system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200022","label":"Choroid plexus papilloma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}