{"orpha":251899,"name":"Choroid plexus carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251899/","orphanet_url":"https://www.orpha.net/en/disease/detail/251899","names":{"fr":{"name":"Carcinome des plexus choroïdes","definition":"Le carcinome des plexus choroïdes est un type rare, malin et très agressif de tumeur des plexus choroïdes survenant presque exclusivement chez l'enfant. Il se présente par une obstruction du liquide céphalo-rachidien dans les ventricules latéraux (le plus souvent), les troisièmes et quatrièmes ventricules ou dans des ventricules multiples. Il conduit à une hydrocéphalie et une augmentation de la pression intracrânienne, et se manifeste par des nausées, des vomissements, des mouvements oculaires anormaux, une démarche anormale, des convulsions et une macrocéphalie."},"de":{"name":"Choroid-Plexuskarzinom","synonyms":["Plexuskarzinom"]},"es":{"name":"Carcinoma del plexo coroideo","definition":"El carcinoma de los plexos coroideos es una forma maligna, poco frecuente y extremadamente agresiva del tumor del plexo coroideo (consulte este término) que se da casi exclusivamente en niños, presentándose con obstrucción del líquido cefalorraquídeo en los ventrículos laterales (más común), los ventrículos tercero y cuarto o en múltiples ventrículos. D lugar a hidrocefalia y aumento de la presión intracraneal. Se manifiesta con náuseas, vómitos, movimientos anormales de los ojos, deterioro de la marcha, convulsiones y agrandamiento de la circunferencia de la cabeza."},"it":{"name":"Carcinoma del plesso corioideo","definition":"Il carcinoma del plesso corioideo è una forma rara estremamente aggressiva di tumore del plesso corioideo (si veda questo termine), che interessa quasi esclusivamente i bambini e si caratterizza per l'ostruzione al flusso del liquido cefalorachidiano nei ventricoli laterali (forma più comune), nel terzo e nel quarto ventricolo o in altri ventricoli, che causa idrocefalo e aumento della pressione intracranica. Si manifesta con nausea, anomalie dei movimenti oculari, anomalie della deambulazione, crisi epilettiche e aumento della circonferenza cranica."},"nl":{"name":"Carcinoom van plexus choroideus","synonyms":["Plexus choroideus-carcinoom"],"definition":"Plexus choroideus-carcinoom is een zeldzaam en zeer agressief, kwaadaardig type plexus choroideus-tumor (zie deze term) dat bijna alleen voorkomt bij kinderen en obstructie vertoont van het hersenvocht in de laterale ventrikels (meest voorkomend), het vierde en derde ventrikel of in meerdere ventrikels. Dit leidt tot hydrocefalus en verhoogde druk in de schedel en uit zich met misselijkheid, braken, abnormale oogbewegingen, abnormale tred, insulten en grotere hoofdomtrek."},"pt":{"name":"Carcinoma do plexo coróide"},"pl":{"name":"Rak splotu naczyniówkowego"},"cs":{"name":"Karcinom choroidálního plexu"},"uk":{"name":"Карцинома судинного сплетіння","definition":"Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference."},"zh":{"name":"脉络丛癌","definition":"脉络丛癌是一种罕见的高度侵袭性的脉络丛肿瘤(见本词条)，几乎只发生在儿童中，表现为侧脑室(最常见)、第四和第三脑室或多个脑室的脑脊液阻塞，导致脑积水和颅内压升高，并表现为恶心、呕吐、眼球运动异常、步态障碍、癫痫发作和头围增大。"},"tr":{"name":"Koroid pleksus karsinomu"}},"xrefs":[{"source":"OMIM","code":"260500","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C71.7","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2A00.22","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1128449352"},{"source":"ICD-11","code":"XH3M77","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1687223897"},{"source":"MONDO","code":"0016718","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562943","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0431109","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8238","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067478","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic 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":"21445348[PMID]","hgnc":"11998","ensembl":"ENSG00000141510","omim":"191170","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.01,"area":"Europe","status":"Validated","source":"2033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"2033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Lifetime Prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.35,"area":"Europe","status":"Validated","source":"2033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}