{"orpha":146,"name":"Differentiated thyroid carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Papillary or follicular thyroid carcinoma","Well-differentiated thyroid carcinoma"],"definition":"A rare, slow-growing, epithelial thyroid carcinoma typically presenting as an asymptomatic thyroid mass and is classed as either papillary thyroid cancer (PTC), follicular thyroid cancer (FTC) or Hurthle cell thyroid cancer (HCTC).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-146/","orphanet_url":"https://www.orpha.net/en/disease/detail/146","names":{"fr":{"name":"Cancer différencié de la thyroïde","synonyms":["Cancer bien différencié de la thyroïde","Cancer papillaire ou folliculaire de la thyroïde"],"definition":"Carcinome épithélial rare de la thyroïde, à progression lente, se manifestant généralement par une masse thyroïdienne asymptomatique. Trois formes ont été décrites : cancer papillaire de la thyroïde (CPT), cancer folliculaire de la thyroïde (CFT) ou cancer thyroïdien à cellules de Hurthle (CTCH)."},"de":{"name":"Schilddrüsenkarzinom, differenziertes","synonyms":["Schilddrüsenkarzinom, gut differenziertes","Schilddrüsenkarzinom, papilläres oder follikuläres"],"definition":"Ein langsam wachsendes epitheliales Schilddrüsenkarzinom, das sich typischerweise als asymptomatische Gewebeverdichtung darstellt und entweder als papilläres Schilddrüsenkarzinom (PTC), follikuläres Schilddrüsenkarzinom (FTC) oder Hurthle-Zell-Schilddrüsenkarzinom (HCTC) klassifiziert wird."},"es":{"name":"Carcinoma diferenciado de tiroides","synonyms":["Carcinoma tiroideo bien diferenciado","Carcinoma tiroideo papilar o folicular"],"definition":"Es un carcinoma epitelial de tiroides poco frecuente, de crecimiento lento, que se presenta típicamente como una masa tiroidea asintomática y se clasifica como carcinoma papilar de tiroides (CPT), carcinoma folicular de tiroides (CFT) o carcinoma de células de Hurthle (CCH)."},"it":{"name":"Carcinoma differenziato della tiroide","synonyms":["Carcinoma ben differenziato della tiroide","Carcinoma papillare o follicolare della tiroide"],"definition":"Il carcinoma differenziato della tiroide (DTC) è un carcinoma tiroideo epiteliale raro a crescita lenta, che in genere si manifesta sotto forma di una massa tiroidea asintomatica. Viene classificato come carcinoma papillare della tiroide (PTC), carcinoma follicolare della tiroide (FTC) o carcinoma della tiroide con cellule di Hurthle (HCTC)."},"nl":{"name":"Gedifferentieerd schildkliercarcinoom","synonyms":["Goed gedifferentieerd schildkliercarcinoom","Papillair of folliculair schildkliercarcinoom"],"definition":"Een zeldzaam, traag groeiend, epitheliaal carcinoom van schildklier dat zich doorgaans presenteert als een asymptomatische massa van schildklier, en dat geclassificeerd wordt als papillaire schildklierkanker (PTC), folliculaire schildklierkanker (FTC) of Hürthle-celcarcinoom van schildklier (HCTC)."},"pt":{"name":"Carcinoma da tiroide diferenciado","synonyms":["Carcinoma papilar da tiroide"]},"pl":{"name":"Zróżnicowany nowotwór tarczycy","synonyms":["Dobrze zróżnicowany rak tarczycy","Rak pęcherzykowy lub brodawkowaty tarczycy"]},"cs":{"name":"Diferencovaný karcinom štítné žlázy","synonyms":["Papilární nebo folikulární karcinom štítné žlázy"]},"uk":{"name":"Диференційована карцинома щитовидної залози","synonyms":["Папілярна або фолікулярна карцинома щитовидної залози","Добре диференційована карцинома щитоподібної залози"],"definition":"A rare, slow-growing, epithelial thyroid carcinoma typically presenting as an asymptomatic thyroid mass and is classed as either papillary thyroid cancer (PTC), follicular thyroid cancer (FTC) or Hurthle cell thyroid cancer (HCTC)."},"zh":{"name":"甲状腺分化癌","synonyms":["乳头状或滤泡性甲状腺癌"]},"tr":{"name":"Diferansiye tiroid karsinomu","synonyms":["İyi diferansiye tiroid karsinomu","Papiller veya foliküler tiroid karsinomu"]}},"xrefs":[{"source":"OMIM","code":"188550","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607464","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C73","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015447","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1337013","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12027","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":[{"symbol":"BRAF","name":"B-Raf proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"12670889[PMID]_17891228[PMID]_25702102[PMID]","hgnc":"1097","ensembl":"ENSG00000157764","omim":"164757","loci":["7q34"]},{"symbol":"EIF1AX","name":"eukaryotic translation initiation factor 1A X-linked","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"25417114[PMID]","hgnc":"3250","ensembl":"ENSG00000173674","omim":"300186","loci":["Xp22.12"]},{"symbol":"GAS8-AS1","name":"GAS8 antisense RNA 1","gene_type":"Non-coding RNA","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"26941397[PMID]","hgnc":"1197","ensembl":"ENSG00000221819","omim":"605179","loci":["16q24.3"]},{"symbol":"HRAS","name":"HRas proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"25132659[PMID]_25648502[PMID]_25109485[PMID]_17891228[PMID]","hgnc":"5173","ensembl":"ENSG00000174775","omim":"190020","loci":["11p15.5"]},{"symbol":"KRAS","name":"KRAS proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"23625203[PMID]_25132659[PMID]_25648502[PMID]","hgnc":"6407","ensembl":"ENSG00000133703","omim":"190070","loci":["12p12.1"]},{"symbol":"LPAR4","name":"lysophosphatidic acid receptor 4","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"26941397[PMID]","hgnc":"4478","ensembl":"ENSG00000147145","omim":"300086","loci":["Xq21.1"]},{"symbol":"NDUFA13","name":"NADH:ubiquinone oxidoreductase subunit A13","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"15841082[PMID]","hgnc":"17194","ensembl":"ENSG00000186010","omim":"609435","loci":["19p13.11"]},{"symbol":"NRAS","name":"NRAS proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"25132659[PMID]_25648502[PMID]_25109485[PMID]_17891228[PMID]","hgnc":"7989","ensembl":"ENSG00000213281","omim":"164790","loci":["1p13.2"]},{"symbol":"TERT","name":"telomerase reverse transcriptase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"27875244[PMID]_27581851[PMID]","hgnc":"11730","ensembl":"ENSG00000164362","omim":"187270","loci":["5p15.33"]},{"symbol":"DIRC3","name":"disrupted in renal carcinoma 3","gene_type":"Non-coding RNA","association":"Major susceptibility factor in","status":"Assessed","source":"23894154[PMID]","hgnc":"17805","ensembl":"ENSG00000231672","omim":"608262","loci":["2q35"]},{"symbol":"FOXE1","name":"forkhead box E1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"21730105[PMID]","hgnc":"3806","ensembl":"ENSG00000178919","omim":"602617","loci":["9q22.33"]},{"symbol":"NKX2-1","name":"NK2 homeobox 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"21730105[PMID]","hgnc":"11825","ensembl":"ENSG00000136352","omim":"600635","loci":["14q13.3"]},{"symbol":"ALK","name":"ALK receptor tyrosine kinase","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"25501013[PMID]_25148236[PMID]","hgnc":"427","ensembl":"ENSG00000171094","omim":"105590","loci":["2p23.2-p23.1"]},{"symbol":"CCDC6","name":"coiled-coil domain containing 6","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"25407564[PMID]","hgnc":"18782","ensembl":"ENSG00000108091","omim":"601985","loci":["10q21.2"]},{"symbol":"ERC1","name":"ELKS/RAB6-interacting/CAST family member 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"10337992[PMID]","hgnc":"17072","ensembl":"ENSG00000082805","omim":"607127","loci":["12p13.33"]},{"symbol":"ETV6","name":"ETS variant transcription factor 6","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"24327398[PMID]","hgnc":"3495","ensembl":"ENSG00000139083","omim":"600618","loci":["12p13.2"]},{"symbol":"GOLGA5","name":"golgin A5","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"9443391[PMID]_17062879[PMID]","hgnc":"4428","ensembl":"ENSG00000066455","omim":"606918","loci":["14q32.12"]},{"symbol":"NCOA4","name":"nuclear receptor coactivator 4","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"8290261[PMID]_25407564[PMID]","hgnc":"7671","ensembl":"ENSG00000266412","omim":"601984","loci":["10q11.22"]},{"symbol":"NTRK1","name":"neurotrophic receptor tyrosine kinase 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"9172002[PMID]_9169129[PMID]_19883730[PMID]","hgnc":"8031","ensembl":"ENSG00000198400","omim":"191315","loci":["1q23.1"]},{"symbol":"NTRK3","name":"neurotrophic receptor tyrosine kinase 3","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"24327398[PMID]","hgnc":"8033","ensembl":"ENSG00000140538","omim":"191316","loci":["15q25.3"]},{"symbol":"PAX8","name":"paired box 8","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"10958784[PMID]_25069464[PMID]_25708358[PMID]_17891228[PMID]","hgnc":"8622","ensembl":"ENSG00000125618","omim":"167415","loci":["2q14.1"]},{"symbol":"PCM1","name":"pericentriolar material 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"10980597[PMID]","hgnc":"8727","ensembl":"ENSG00000078674","omim":"600299","loci":["8p22"]},{"symbol":"PPARG","name":"peroxisome proliferator activated receptor gamma","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"10958784[PMID]_25069464[PMID]_25708358[PMID]_17891228[PMID]","hgnc":"9236","ensembl":"ENSG00000132170","omim":"601487","loci":["3p25.2"]},{"symbol":"RET","name":"ret proto-oncogene","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"25407564[PMID]_17891228[PMID]","hgnc":"9967","ensembl":"ENSG00000165731","omim":"164761","loci":["10q11.21"]},{"symbol":"TFG","name":"trafficking from ER to golgi regulator","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"9172002[PMID]_9169129[PMID]","hgnc":"11758","ensembl":"ENSG00000114354","omim":"602498","loci":["3q12.2"]},{"symbol":"TPR","name":"translocated promoter region, nuclear basket protein","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"9172002[PMID]_1532241[PMID]","hgnc":"12017","ensembl":"ENSG00000047410","omim":"189940","loci":["1q31.1"]},{"symbol":"TRIM24","name":"tripartite motif containing 24","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"10439047[PMID]_17062879[PMID]","hgnc":"11812","ensembl":"ENSG00000122779","omim":"603406","loci":["7q33-q34"]},{"symbol":"TRIM27","name":"tripartite motif containing 27","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"12787916[PMID]_17062879[PMID]","hgnc":"9975","ensembl":"ENSG00000204713","omim":"602165","loci":["6p22.1"]},{"symbol":"TRIM33","name":"tripartite motif containing 33","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"10439047[PMID]_17062879[PMID]","hgnc":"16290","ensembl":"ENSG00000197323","omim":"605769","loci":["1p13.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":5.25,"area":"Worldwide","status":"Validated","source":"[EXPERT]_ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}