{"orpha":143,"name":"Parathyroid carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare endocrine tumor characterized by a malignant neoplasm derived from parathyroid parenchymal cells, localized in one of the normally located parathyroid glands or other sites where parathyroid tissue may be present. Signs and symptoms are predominantly due to excess secretion of parathyroid hormone, with marked hypercalcemia and renal and bone involvement. In rare cases, the tumor may be non-functioning and only present as a palpable mass in the neck region. Recurrent laryngeal nerve paralysis is also observed. The tumor can occur sporadically or on a genetic background. The extent of invasion of adjacent structures positively correlates with the development of recurrent or metastatic disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-143/","orphanet_url":"https://www.orpha.net/en/disease/detail/143","names":{"fr":{"name":"Carcinome parathyroidien","synonyms":["Cancer de la parathyroïde"],"definition":"Tumeur endocrinienne rare caractérisée par un néoplasme malin dérivé des cellules parathyroïdiennes, localisé dans l'une des glandes parathyroïdes normalement situées ou sur d'autres sites envahis par le tissu parathyroïdien. Les signes cliniques et les symptômes sont principalement dus à une sécrétion excessive d'hormone parathyroïdienne, avec une hypercalcémie marquée et une atteinte rénale et osseuse. Dans de rares cas, la tumeur peut être non fonctionnelle et se manifester uniquement sous la forme d'une masse palpable dans la région du cou. Une paralysie récurrente du nerf laryngé est également observée. La tumeur peut se développer de manière sporadique ou peut être d'origine génétique. L'étendue de l'invasion des tissus adjacents est positivement corrélée avec le développement d'une maladie récurrente ou métastatique."},"de":{"name":"Nebenschilddrüsen-Karzinom","definition":"Ein seltener endokriner Tumor, bei dem es sich um eine maligne Neoplasie handelt, die von Parathormonzellen der Nebenschilddrüse ausgeht und in einer der normal gelegenen Nebenschilddrüsen oder an anderen Stellen, an denen Nebenschilddrüsengewebe vorhanden sein kann, lokalisiert ist. Die Anzeichen und Symptome sind in erster Linie auf eine übermäßige Sekretion von Parathormon zurückzuführen, mit ausgeprägter Hyperkalzämie und einer Beteiligung der Nieren und Knochen. In seltenen Fällen kann der Tumor funktionslos sein und sich nur als tastbare Gewebeverdichtung in der Halsregion bemerkbar machen. Auch eine Lähmung des N. laryngeus recurrentis wird beobachtet. Der Tumor kann sporadisch oder genetisch bedingt auftreten. Das Ausmaß der Invasion in benachbarte Strukturen korreliert positiv mit der Entwicklung einer rezidivierenden oder metastasierenden Erkrankung."},"es":{"name":"Carcinoma de paratiroides","definition":"Es un tumor endocrino poco frecuente caracterizado por una neoplasia maligna derivada de células del parénquima paratiroideo, localizada normalmente en una de las glándulas paratiroides o en otros sitios con una posible presencia de tejido paratiroideo. Los signos y síntomas se deben predominantemente a una secreción excesiva de la hormona paratiroidea, con una marcada hipercalcemia y afectación renal y ósea. En algunos casos, el tumor puede ser no funcionante, presentándose únicamente como una masa palpable en la región del cuello. También se observa parálisis del nervio laríngeo recurrente. El tumor puede ocurrir de manera esporádica o por antecedentes genéticos. El grado de invasión de estructuras adyacentes se correlaciona positivamente con el desarrollo de enfermedad recurrente o metastásica."},"it":{"name":"Carcinoma delle paratiroidi","definition":"Si tratta di un tumore endocrino raro, caratterizzato da una neoplasia maligna derivata dalle cellule del parenchima paratiroideo, localizzata in una delle ghiandole paratiroidee in posizione normale o in altri siti in cui è presente del tessuto paratiroideo. I segni clinici sono per lo più secondari all'ipersecrezione dell'ormone paratiroideo, con una marcata ipercalcemia e un interessamento dei reni e dello scheletro. Raramente il tumore non è funzionante e si manifesta solo come massa palpabile localizzata sul collo. I pazienti presentano una paralisi ricorrente del nervo laringeo. Il tumore può insorgere sporadicamente o su base genetica. L'estensione dell'invasione delle strutture adiacenti correla con lo sviluppo di una malattia recidivante o di metastasi."},"nl":{"name":"Bijschildkliercarcinoom","definition":"Een zeldzame endocriene tumor, gekarakteriseerd door een maligne neoplasma afgeleid van parenchymale cellen van bijschildklier, gesitueerd in een van de normaal gelokaliseerde bijschildklieren of op een andere plaats waar weefsel van parathyroïd aanwezig kan zijn. Verschijnselen en symptomen zijn voornamelijk te wijten aan overmatige secretie van parathyroïdhormoon, met aanzienlijke hypercalciëmie en betrokkenheid van nier en bot. In zeldzame gevallen kan de tumor niet-functioneel zijn, en zich enkel presenteren met een palpabele massa ter hoogte van de hals. Verlamming van nervus laryngeus recurrens wordt ook waargenomen. De tumor kan sporadisch of in een genetische context voorkomen. De mate van invasie van aangrenzende structuren is positief gecorreleerd met de ontwikkeling van recidiverende of metastatische ziekte."},"pt":{"name":"Carcinoma das paratiroides"},"pl":{"name":"Rak przytarczyc"},"cs":{"name":"Karcinom příštítných tělísek"},"uk":{"name":"Паратиреоїдна карцинома","definition":"A rare endocrine tumor characterized by a malignant neoplasm derived from parathyroid parenchymal cells, localized in one of the normally located parathyroid glands or other sites where parathyroid tissue may be present. Signs and symptoms are predominantly due to excess secretion of parathyroid hormone, with marked hypercalcemia and renal and bone involvement. In rare cases, the tumor may be non-functioning and only present as a palpable mass in the neck region. Recurrent laryngeal nerve paralysis is also observed. The tumor can occur sporadically or on a genetic background. The extent of invasion of adjacent structures positively correlates with the development of recurrent or metastatic disease."},"zh":{"name":"甲状旁腺癌"},"tr":{"name":"Paratiroid karsinomu"}},"xrefs":[{"source":"OMIM","code":"608266","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C75.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2D12.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"640333269"},{"source":"MONDO","code":"0012004","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D010282","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0687150","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7329","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":181408,"name":"Rare hyperparathyroidism","classifications":[193]},{"orpha":100090,"name":"Rare parathyroid tumor","classifications":[193,202]}],"children":[],"genes":[{"symbol":"CDC73","name":"cell division cycle 73","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"14585940[PMID]_15719375[PMID]","hgnc":"16783","ensembl":"ENSG00000134371","omim":"607393","loci":["1q31.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe 2011[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Lifetime Prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.28,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"United States","status":"Validated","source":"26708847[PMID]_17372919[PMID]_SEER Surveillance Epidemiology and End Results Program 2003[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.015,"area":"Netherlands","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.037,"area":"United Kingdom","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.016,"area":"Norway","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.005,"area":"Poland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.008,"area":"Portugal","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.005,"area":"Slovakia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.006,"area":"Slovenia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.045,"area":"Spain","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.011,"area":"Switzerland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.015,"area":"Austria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.027,"area":"Belgium","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.013,"area":"Bulgaria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.037,"area":"Croatia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.015,"area":"Czech Republic","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.009,"area":"Estonia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.045,"area":"Finland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.017,"area":"Germany","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.043,"area":"Iceland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.031,"area":"Ireland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.052,"area":"Italy","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.011,"area":"Latvia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.008,"area":"Lithuania","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.031,"area":"Malta","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-08","source":"14585940[PMID]_20301744[PMID]_26163537[PMID]_23293331[PMID]_14585940[PMID]_15606373[PMID]","terms":[{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0006780","label":"Parathyroid carcinoma","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008200","label":"Primary hyperparathyroidism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0011766","label":"Abnormality of the parathyroid morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003165","label":"Elevated circulating parathyroid hormone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010614","label":"Fibroma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012232","label":"Shortened QT interval","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000131","label":"Uterine leiomyoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000934","label":"Chondrocalcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200025","label":"Mandibular pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004398","label":"Peptic ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008696","label":"Renal hamartoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012032","label":"Lipoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006725","label":"Pancreatic adenocarcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010788","label":"Testicular neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002890","label":"Thyroid carcinoma","frequency":"Very rare (<4-1%)","criteria":null}]}}