{"orpha":99361,"name":"Isolated familial medullary thyroid carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary isolated MTC","Isolated familial MTC"],"definition":"A rare thyroid tumor characterized by a malignant neoplasm derived from the calcitonin-secreting parafollicular C-cells of the thyroid and occurring familially, but not as a component of multiple endocrine neoplasia syndromes. The commonly multifocal, bilateral nodules are typically located at the junction of the upper and middle thirds of the thyroid lobes. Clinically, patients may present with diarrhea, flushing, or weight loss caused by excessive secretion of calcitonin by the tumor. In rare cases, the tumor can also cause Cushing syndrome due to ectopic corticotropin production.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99361/","orphanet_url":"https://www.orpha.net/en/disease/detail/99361","names":{"fr":{"name":"Cancer médullaire de la thyroïde familial isolé","synonyms":["MTC familial isolé"],"definition":"Tumeur rare de la thyroïde caractérisée par un néoplasme malin se développant aux dépens des cellules C parafolliculaires thyroïdiennes responsables de la sécrétion de calcitonine. Il s'agit d'un cancer familial et non d'une composante des syndromes de néoplasies endocriniennes multiples. Les nodules bilatéraux, généralement multifocaux, sont le plus souvent localisés à la jonction entre le tiers supérieur et le tiers moyen des lobes thyroïdiens. Sur le plan clinique, les patients peuvent présenter une diarrhée, des bouffées vasomotrices ou une perte de poids due à une sécrétion excessive de calcitonine par la tumeur. Dans de rares cas, la tumeur peut aussi provoquer un syndrome de Cushing en raison d'une sécrétion ectopique de corticotropine."},"de":{"name":"Isoliertes familiäres medulläres Schilddrüsenkarzinom","synonyms":["Isoliertes familiäres MTC"],"definition":"Ein seltener maligner Schilddrüsentumor, der von den Calcitonin sezernierenden parafollikulären C-Zellen der Schilddrüse ausgeht und familiär, aber nicht im Rahmen multipler endokriner Neoplasiensyndrome auftritt. Die meist multifokalen, bilateralen Knoten sind typischerweise an der Grenze zwischen dem oberen und mittleren Drittel des Schilddrüsenlappens lokalisiert. Klinisch können sich die Patienten mit Diarrhoe, Hautrötung oder Gewichtsverlust vorstellen, die durch eine übermäßige Ausschüttung von Calcitonin durch den Tumor verursacht werden. In seltenen Fällen kann der Tumor auch ein Cushing-Syndrom durch ektopische Produktion von Corticotropin auslösen."},"es":{"name":"Carcinoma medular de tiroides familiar aislado","synonyms":["MTC familiar aislado","MTC hereditario aislado"],"definition":"Es un tumor tiroideo poco frecuente caracterizado por una neoplasia maligna derivada de las células C parafoliculares de la tiroides secretoras de calcitonina. Es de carácter familiar, pero no forma parte de los síndromes de neoplasia endocrina múltiple. Los nódulos bilaterales, comúnmente multifocales, se ubican típicamente en la unión de los tercios superior y medio de los lóbulos tiroideos. Clínicamente, los pacientes pueden presentar diarrea, sofocos o pérdida de peso causada por la secreción aumentada de calcitonina por parte del tumor. Excepcionalmente, el tumor puede causar el síndrome de Cushing debido a la producción ectópica de corticotropina."},"it":{"name":"Carcinoma midollare familiare della tiroide","synonyms":["MTC familiare"]},"nl":{"name":"Geïsoleerd familiaal medullair schildkliercarcinoom","synonyms":["Geïsoleerd familiaal MTC"],"definition":"Een zeldzame tumor van schildklier, gekenmerkt door een maligne neoplasma afkomstig van calcitonine-secreterende parafolliculaire C-cellen van de schildklier en een familiaal optreden, maar niet als deel van syndromen van multipele endocriene neoplasie. De doorgaans multifocale, bilaterale noduli zijn doorgaans gesitueerd aan de overgang van het bovenste en middelste derde deel van de schildklierkwabben. Klinisch vertonen patiënten mogelijk diarree, blozen of gewichtsverlies veroorzaakt door overmatige secretie van calcitonine door de tumor. In zeldzame gevallen kan de tumor ook Cushing-syndroom veroorzaken door ectopische productie van corticotropine."},"pt":{"name":"Carcinoma medular da tiroide isolado","synonyms":["MTC isolado familiar","MTC isolado hereditário"],"definition":"Tumor raro da tiróide caracterizado por uma neoplasia maligna derivada das células C parafoliculares secretoras de calcitonina da tiróide e com segregação familiar, mas não como um componente de síndromes da neoplasia endócrina múltipla. Os nódulos bilaterais, comumente multifocais, estão tipicamente localizados na junção dos terços superior e médio dos lobos da tiróide. Clinicamente, os doentes podem apresentar diarreia, rubor ou perda de peso causados pela secreção excessiva de calcitonina pelo tumor. Em casos raros, o tumor também pode causar síndrome Cushing devido à produção ectópica de corticotropina."},"pl":{"name":"Rodzinny rak rdzeniasty tarczycy","synonyms":["Rodzinny MTC"],"definition":"Rzadki nowotwór złośliwy tarczycy charakteryzujący się rozrostem komórek wywodzących się z wydzielających kalcytoninę przypęcherzykowych komórek C tarczycy. Występuje rodzinnie, ale nie jest elementem licznych zespołów gruczolakowatości wewnątrzwydzielniczej. Typowo wieloogniskowe, obustronne guzki są zwykle zlokalizowane na styku górnej i środkowej jednej trzeciej płatów tarczycy. Klinicznie u pacjentów może wystąpić biegunka, uderzenia gorąca lub utrata masy ciała spowodowane nadmiernym wydzielaniem kalcytoniny przez guz. W rzadkich przypadkach guz może również powodować zespół Cushinga z powodu ektopowego wytwarzania kortykotropiny."},"cs":{"name":"Familiární medulární karcinom štítné žlázy","synonyms":["Familiární MTC"]},"uk":{"name":"Сімейна медулярна карцинома щитоподібної залози","synonyms":["Сімейний MTC"],"definition":"A rare thyroid tumor characterized by a malignant neoplasm derived from the calcitonin-secreting parafollicular C-cells of the thyroid and occurring familially, but not as a component of multiple endocrine neoplasia syndromes. The commonly multifocal, bilateral nodules are typically located at the junction of the upper and middle thirds of the thyroid lobes. Clinically, patients may present with diarrhea, flushing, or weight loss caused by excessive secretion of calcitonin by the tumor. In rare cases, the tumor can also cause Cushing syndrome due to ectopic corticotropin production."},"zh":{"name":"家族性甲状腺髓样癌","synonyms":["家族性MTC"]},"tr":{"name":"ailesel medüller tiroid karsinomu","synonyms":["Ailesel MTC"]}},"xrefs":[{"source":"OMIM","code":"155240","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C73","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2D10.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007958","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536911","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833921","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073153","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":425003,"name":"Inherited digestive cancer-predisposing syndrome","classifications":[152,156,202]},{"orpha":100088,"name":"Rare thyroid carcinoma","classifications":[193,202]}],"children":[],"genes":[{"symbol":"ESR2","name":"estrogen receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26945007[PMID]","hgnc":"3468","ensembl":"ENSG00000140009","omim":"601663","loci":["14q23.2-q23.3"]},{"symbol":"NTRK1","name":"neurotrophic receptor tyrosine kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10443680[PMID]","hgnc":"8031","ensembl":"ENSG00000198400","omim":"191315","loci":["1q23.1"]},{"symbol":"RET","name":"ret proto-oncogene","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10443680[PMID]_20833330[PMID]_20301434[PMID]","hgnc":"9967","ensembl":"ENSG00000165731","omim":"164761","loci":["10q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}