{"orpha":1332,"name":"Medullary thyroid carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MTC"],"definition":"Medullary thyroid carcinoma (MTC) is developed from thyroid C cells that secrete calcitonin (CT).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1332/","orphanet_url":"https://www.orpha.net/en/disease/detail/1332","names":{"fr":{"name":"Cancer médullaire de la thyroïde","synonyms":["MTC"],"definition":"Le cancer médullaire de la thyroïde (CMT) est un cancer rare qui se développe aux dépens des cellules C parafolliculaires thyroïdiennes responsables de la sécrétion de calcitonine."},"de":{"name":"Schilddrüsenkarzinom, medulläres","definition":"Das Medulläre Schilddrüsenkarzinom (MTC) entsteht aus C-Zellen der Schilddrüse. Dieser Zelltyp sezerniert Calcitonin (CT)."},"es":{"name":"Carcinoma medular de tiroides","synonyms":["MTC"],"definition":"El carcinoma medular de tiroides (CMT) se desarrolla a partir de células C tiroideas secretoras de calcitonina (CT)."},"it":{"name":"Carcinoma midollare della tiroide","synonyms":["MTC"]},"nl":{"name":"Medullair schildkliercarcinoom","synonyms":["MTC"],"definition":"Medullair schildkliercarcinoom (MTC) ontwikkelt uit C-cellen van schildklier die calcitonine (CT) uitscheiden."},"pt":{"name":"Cancro medular da tiroide"},"pl":{"name":"Rak rdzeniasty tarczycy","synonyms":["MTC"]},"cs":{"name":"Medulární karcinom štítné žlázy","synonyms":["MTC"]},"uk":{"name":"Медулярна карцинома щитоподібної залози","synonyms":["MTC"],"definition":"Medullary thyroid carcinoma (MTC) is developed from thyroid C cells that secrete calcitonin (CT)."},"zh":{"name":"甲状腺髓样癌","synonyms":["MTC"]},"tr":{"name":"Medüller tiroid karsinomu","synonyms":["MTC"]}},"xrefs":[{"source":"ICD-10","code":"C73","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2D10.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"578519098"},{"source":"MONDO","code":"0015277","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536914","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0238462","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7004","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10027101","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":100088,"name":"Rare thyroid carcinoma","classifications":[193,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2018[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.17,"area":"United States","status":"Validated","source":"21186939[PMID]_National Cancer OTHERitute 1992-2006[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.22,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe 2011[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-13","source":"25810047[PMID]_23744408[PMID]_21346073[PMID]_21717441[PMID]_24261394[PMID]_24942936[PMID]_25490273[PMID]_22170709[PMID]_22162466[PMID]_20943788[PMID]","terms":[{"hpo":"HP:0002865","label":"Medullary thyroid carcinoma","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003528","label":"Elevated calcitonin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005994","label":"Nodular goiter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030146","label":"Abnormal liver parenchyma morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010622","label":"Neoplasm of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002666","label":"Pheochromocytoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008200","label":"Primary hyperparathyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null}]}}