{"orpha":276148,"name":"Benign epithelial tumor of salivary glands","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Benign epithelial tumor of salivary glands is a rare neoplastic disease characterized by the presence of a tumor located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, usually manifesting as a slow-growing, painless, commonly solitary mass, rarely associated with facial nerve palsy or nasal/airway obstruction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276148/","orphanet_url":"https://www.orpha.net/en/disease/detail/276148","names":{"fr":{"name":"Tumeur épithéliale bénigne des glandes salivaires","definition":"Maladie néoplasique rare caractérisée par la présence d'une tumeur située dans la glande parotide, la glande sublinguale, la glande sous mandibulaire et/ou les glandes salivaires accessoires, se manifestant par divers signes cliniques en fonction de sa localisation, de sa taille et du type de glandes salivaires touchées mais généralement par une masse solitaire indolore à progression lente, rarement associée à une paralysie du nerf facial ou une obstruction nasale/des voies respiratoires."},"de":{"name":"Speicheldrüsentumor, epithelialer benigner"},"es":{"name":"Tumor epitelial benigno de las glándulas salivales","definition":"Es una enfermedad neoplásica poco frecuente caracterizada por la presencia de un tumor localizado en las glándulas salivales parótidas, sublinguales, submandibulares y/o menores. Se presenta con un amplio espectro de hallazgos clínicos en función de la ubicación, el tamaño y el tipo de glándula salival afectada que, por lo general, se manifiesta como una masa de crecimiento lento, indolora, típicamente aislada, que asocia ocasionalmente parálisis del nervio facial u obstrucción nasal / de las vías aéreas."},"it":{"name":"Tumore epiteliale benigno delle ghiandole salivari","definition":"Il tumore epiteliale benigno delle ghiandole salivari è una neoplasia rara caratterizzata da una tumefazione a livello delle ghiandole salivari parotidee, sottolinguali, sottomandibolari e/o minori, che esordisce con un'ampia gamma di segni clinici, a seconda della localizzazione, delle dimensioni e della ghiandola salivare interessata. Di solito esordisce con una massa solitaria indolore a crescita lenta, raramente associata a paralisi dei nervi facciali o ad ostruzione del naso o delle vie aeree."},"nl":{"name":"Goedaardige epitheliale tumor van speekselklieren","definition":"Goedaardige epitheliale tumor van de speekselklieren is een zeldzame, neoplastische ziekte gekarakteriseerd door de aanwezigheid van een tumor in de oorspeekselklier, sublinguale, submandibulaire en/of kleine speekselklieren die zich presenteert met een breed spectrum van klinische kenmerken, afhankelijk van locatie, omvang en type van aangetaste speekselklier, en zich meestal manifesteert als een traag groeiende, pijnloze, doorgaans solitaire massa, zelden geassocieerd met verlamming van de nervus facialis of obstructie van de neus/luchtwegen."},"pt":{"name":"Tumor epitelial benigno das glândulas salivares"},"pl":{"name":"Łagodny guz nabłonkowy ślinianek"},"cs":{"name":"Benigní epiteliální nádor slinných žláz"},"uk":{"name":"Доброякісна епітеліальна пухлина слинних залоз","definition":"Benign epithelial tumor of salivary glands is a rare neoplastic disease characterized by the presence of a tumor located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, usually manifesting as a slow-growing, painless, commonly solitary mass, rarely associated with facial nerve palsy or nasal/airway obstruction."},"zh":{"name":"唾液腺良性上皮性肿瘤","definition":"唾液腺良性上皮性肿瘤是一种少见的肿瘤性疾病，肿瘤位于腮腺、舌下腺、颌下腺和/或小唾液腺，根据受累唾液腺的位置、大小和类型表现出广泛的临床表型谱，通常表现为生长缓慢、无痛、孤立性的肿块，很少伴有面神经麻痹或鼻/气道阻塞。"},"tr":{"name":"Tükürük bezlerinin selim epitel tümörü"}},"xrefs":[{"source":"OMIM","code":"181030","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D11.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"D11.7","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2E91","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"467275964"},{"source":"ICD-11","code":"2E91.0","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1688299444"},{"source":"ICD-11","code":"2E91.1","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"391115808"},{"source":"MONDO","code":"0017168","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190858","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":454821,"name":"OBSOLETE: Pleomorphic salivary gland adenoma","status":"inactive"}],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":276142,"name":"Rare tumor of salivary glands","classifications":[152,202]}],"children":[],"genes":[{"symbol":"HMGA2","name":"high mobility group AT-hook 2","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"23821214[PMID]","hgnc":"5009","ensembl":"ENSG00000149948","omim":"600698","loci":["12q14.3"]},{"symbol":"PLAG1","name":"PLAG1 zinc finger","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"21394649[PMID]_23821214[PMID]","hgnc":"9045","ensembl":"ENSG00000181690","omim":"603026","loci":["8q12.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}