{"orpha":276145,"name":"Malignant epithelial tumor of salivary glands","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"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, ranging from clinically asymptomatic, slow-growing, painless mass(es), that may or may not be fixed to underlying skin or muscles, to rapidly growing mass(es) associated with pain, facial weakness/nerve palsy, otorrhoea, dysphagia, palatal/parapharyngeal fullness, nasal obstruction/bleeding, voice hoarseness/change, dyspnea, trismus, palate bone erosion, telangiectasia, mucosal/skin ulceration and/or cervical adenopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276145/","orphanet_url":"https://www.orpha.net/en/disease/detail/276145","names":{"fr":{"name":"Tumeur épithéliale maligne 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, présentant un large spectre clinique en fonction de la localisation, de la taille et du type de glandes salivaires impliquées, allant d'une absence de signes cliniques, d'une ou de plusieurs masses indolores à progression lente pouvant ou non être fixées à la peau ou aux muscles sous-jacents, à la présence d'une ou de plusieurs masses à progression rapide associées à des douleurs, une faiblesse des muscles faciaux/paralysie du nerf facial, une otorrhée, une dysphagie, une compression de l'espace parapharyngé/du palais, une obstruction nasale/des saignements nasaux, une raucité/des modifications de la voix, une dyspnée, un trismus, une érosion des os du palais, une télangiectasie, une ulcération des muqueuses/de la peau et/ou une adénopathie cervicale."},"de":{"name":"Maligner epithelialer Tumor der Speicheldrüsen"},"es":{"name":"Tumor epitelial maligno 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. Presenta un amplio espectro de hallazgos clínicos en función de la ubicación, el tamaño y el tipo de la glándula salivar afectada, que varían desde una o más masas clínicamente asintomáticas, de crecimiento lento e indoloras, que pueden o no estar fijadas a la piel o músculos subyacentes, hasta masas de crecimiento rápido asociadas con dolor, debilidad facial / parálisis nerviosa, otorrea, disfagia, dilatación palatal / parafaríngea, obstrucción / sangrado nasal, ronquera / cambios en la voz, disnea, trismo, erosión ósea del paladar, telangiectasia, ulceración de la mucosa / piel y/o adenopatía cervical."},"it":{"name":"Tumore epiteliale maligno delle ghiandole salivari","definition":"Il tumore epiteliale maligno delle ghiandole salivari è una neoplasia rara caratterizzata dalla presenza di un tumore localizzato nelle ghiandole salivari paratiroidee, sottolinguali, sottomandibolari e/o minori. Esordisce con un'ampia gamma di segni clinici, che dipendono dalla localizzazione, dalle dimensioni e dalla ghiandola salivare interessata. I pazienti presentano una o più masse indolori, a crescita lenta, asintomatiche dal punto di vista clinico, ancorate o meno alla cute o ai muscoli sottostanti, oppure una o più masse a crescita rapida associate a dolore, debolezza facciale e paralisi dei nervi facciali, otorrea, disfagia, sensazione di pienezza del palato o del faringe, ostruzione/emorragia nasale, raucedine o alterazioni della voce, dispnea, trisma, erosione dell'osso palatino, telangectasia, ulcere della mucosa e della cute e/o adenopatia cervicale."},"nl":{"name":"Maligne epitheliale tumor van speekselklieren","definition":"Maligne epitheliale tumor van de speekselklieren is een zeldzame, neoplastische ziekte die gekarakteriseerd wordt door de aanwezigheid van een tumor in de oorspeekselklier, sublinguale, submandibulaire en/of kleine speekselklieren, en die zich presenteert met een breed spectrum van klinische kenmerken, afhankelijk van locatie, omvang en type van de aangetaste speekselklier, en gaande van klinisch asymptomatische, traag groeiende, pijnloze massa(s) al dan niet vastgehecht aan onderliggende huid of spieren, tot snelgroeiende massa(s) geassocieerd met pijn, gezichtszwakte/zenuwverlamming, otorroe, dysfagie, zwelling van verhemelte/parafarynx, nasale obstructie/bloeding, heesheid/verandering van de stem, dyspneu, trismus (mondklem), boterosie van het verhemelte, teleangiëctasie, ulceratie van slijmvlies/huid, en/of cervicale adenopathie."},"pt":{"name":"Tumor epitelial maligno das glândulas salivares"},"pl":{"name":"Złośliwy guz nabłonkowy ślinianek"},"cs":{"name":"Maligní epiteliální nádor slinných žláz"},"uk":{"name":"Злоякісна епітеліальна пухлина слинних залоз","definition":"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, ranging from clinically asymptomatic, slow-growing, painless mass(es), that may or may not be fixed to underlying skin or muscles, to rapidly growing mass(es) associated with pain, facial weakness/nerve palsy, otorrhoea, dysphagia, palatal/parapharyngeal fullness, nasal obstruction/bleeding, voice hoarseness/change, dyspnea, trismus, palate bone erosion, telangiectasia, mucosal/skin ulceration and/or cervical adenopathy."},"zh":{"name":"唾液腺恶性上皮性肿瘤","definition":"唾液腺恶性上皮性肿瘤是一种罕见的肿瘤性疾病，其特征是肿瘤位于腮腺、舌下腺、颌下腺和/或小唾液腺，其临床表现广泛，取决于所累及的唾液腺的位置、大小和类型，从无临床症状到生长缓慢、无痛的肿块(可能固定或不固定在下面的皮肤或肌肉)到快速增长的肿块，可伴随疼痛、面瘫/神经麻痹、耳鸣、吞咽困难、腭部/咽旁饱满、鼻塞/出血、声音嘶哑/改变、呼吸困难、痉挛、腭骨侵蚀、毛细血管扩张、粘膜/皮肤溃疡和/或颈部腺病。"},"tr":{"name":"Tükürük bezlerinin habis epitel tümörü"}},"xrefs":[{"source":"ICD-10","code":"C07","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C08.0","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C08.1","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C08.8","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B67.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B68.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017167","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190832","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":500481,"name":"OBSOLETE: Squamous cell carcinoma of salivary glands","status":"inactive"}],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":276142,"name":"Rare tumor of salivary glands","classifications":[152,202]}],"children":[],"genes":[{"symbol":"PRKD1","name":"protein kinase D1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"25240283[PMID]","hgnc":"9407","ensembl":"ENSG00000184304","omim":"605435","loci":["14q12"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.73,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.85,"area":"Austria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.986,"area":"Germany","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.809,"area":"Iceland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.737,"area":"Ireland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.98,"area":"Latvia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.817,"area":"Malta","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.864,"area":"Norway","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.937,"area":"Poland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.899,"area":"Portugal","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.99,"area":"Slovakia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.657,"area":"Slovenia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.919,"area":"Spain","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.906,"area":"Switzerland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.786,"area":"Netherlands","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.906,"area":"United Kingdom","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.121,"area":"Belgium","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.026,"area":"Bulgaria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.261,"area":"Croatia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.113,"area":"Czech Republic","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.127,"area":"Estonia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.093,"area":"Finland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.227,"area":"Italy","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.213,"area":"Lithuania","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}