{"orpha":100084,"name":"Middle ear neuroendocrine tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Middle ear neuroendocrine tumor is a rare, otorhinolaryngologic tumor characterized by a mixed glandular and non-glandular histological features and positive immunostaining for pancytokeratin, vimentin, synaptophysin and islet-1 protein. Common signs and symptoms are hearing loss, mass, pain, discharge, equilibrium disturbances, tinnitus and nerve paralysis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100084/","orphanet_url":"https://www.orpha.net/en/disease/detail/100084","names":{"fr":{"name":"Tumeur neuroendocrine de l'oreille moyenne","definition":"Tumeur otorhinolaryngologique rare caractérisée par un mélange de signes histologiques glandulaires et non glandulaires, ainsi que par une immunocoloration positive pour la pancytokératine, la vimentine, la synaptophysine et la protéine islet-1. Les signes et symptômes courants sont une perte auditive, une masse, des douleurs, un écoulement, des troubles de l'équilibre, des acouphènes et une paralysie du nerf."},"de":{"name":"Tumor, neuroendokriner, des Mittelohrs"},"es":{"name":"Tumor neuroendocrino del oído medio","definition":"Es un tumor otorrinolaringológico poco frecuente caracterizado por rasgos histológicos mixtos glandulares y no glandulares e inmunotinción positiva para la pancitoqueratina, vimentina, sinaptofisina y proteína del islote-1. Los signos y síntomas comunes son pérdida de audición y presencia de una masa, dolor, secreción, trastornos del equilibrio, acúfenos y parálisis nerviosa."},"it":{"name":"Tumore neuroendocrino dell'orecchio medio","definition":"Il tumore neuroendocrino dell'orecchio medio è una neoplasia rara di interesse otorinolaringoiatrico, che associa caratteristiche istologiche ghiandolari e non-ghiandolari ed è positiva all'immunocolorazione per pancitocheratina, vimentina, sinaptofisina e proteina dell'isoletta 1. I segni clinici più comuni sono la perdita dell'udito, la presenza di una massa, il dolore, le perdite, i deficit dell'equilibrio, gli acufeni e la paralisi dei nervi."},"nl":{"name":"Neuro-endocriene tumor van middenoor","definition":"Neuro-endocriene tumor van het middenoor is een zeldzame, otorinolaryngologische tumor die gekarakteriseerd wordt door gemengde glandulaire en niet-glandulaire histologische kenmerken en positieve immuunkleuring met pancytokeratine, vimentine, synaptofysine en islet-1 proteïne. Gangbare tekenen en symptomen zijn gehoorverlies, gezwel, pijn, uitscheiding, evenwichtsstoornissen, tinnitus en zenuwverlamming."},"pt":{"name":"Tumor endócrino do ouvido médio"},"pl":{"name":"Guz neuroendokrynny ucha środkowego"},"cs":{"name":"Endokrinní nádor středouší"},"uk":{"name":"Нейроендокринна пухлина середнього вуха","definition":"Middle ear neuroendocrine tumor is a rare, otorhinolaryngologic tumor characterized by a mixed glandular and non-glandular histological features and positive immunostaining for pancytokeratin, vimentin, synaptophysin and islet-1 protein. Common signs and symptoms are hearing loss, mass, pain, discharge, equilibrium disturbances, tinnitus and nerve paralysis."},"zh":{"name":"中耳神经内分泌肿瘤","definition":"中耳神经内分泌肿瘤是一种罕见的耳鼻咽喉科肿瘤，以腺体和非腺体混合组织学特征为特征，泛角蛋白、波形蛋白、突触素和islet-1蛋白免疫染色阳性。常见的体征和症状有听力丧失、肿块、疼痛、放电、平衡障碍、耳鸣和神经瘫痪。"},"tr":{"name":"Orta kulak nöroendokrin tümörü"}},"xrefs":[{"source":"ICD-10","code":"C30.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F00.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1437498002"},{"source":"MONDO","code":"0015071","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305468","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19759","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":100101,"name":"Neuroendocrine tumor with other location","classifications":[193,202]},{"orpha":98061,"name":"Rare otorhinolaryngologic tumor","classifications":[200,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Elderly"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-08-22","source":"23401045[PMID]_16618645[PMID]_20345079[PMID]_16148713[PMID]_18358680[PMID]_6243385[PMID]_15635584[PMID]_3585164[PMID]","terms":[{"hpo":"HP:0100570","label":"Carcinoid tumor","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0100634","label":"Neuroendocrine neoplasm","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0040119","label":"Unilateral conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040090","label":"Abnormality of the tympanic membrane","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000372","label":"Abnormality of the auditory canal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002730","label":"Chronic noninfectious lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very rare (<4-1%)","criteria":null}]}}