{"orpha":97290,"name":"Familial papillary thyroid carcinoma with renal papillary neoplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PTC-RCC"],"definition":"An extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97290/","orphanet_url":"https://www.orpha.net/en/disease/detail/97290","names":{"fr":{"name":"Cancer familial papillaire de la thyroïde avec néoplasie rénale papillaire","synonyms":["PTC-RCC"],"definition":"Syndrome tumoral héréditaire extrêmement rare qui appartient au groupe du carcinome non médullaire familial de la thyroïde."},"de":{"name":"Papilläres Schilddrüsenkarzinom mit papillärem Nierenzellkarzinom","synonyms":["PTC-RCC"],"definition":"Ein äußerst seltenes hereditäres Tumorsyndrom innerhalb der Gruppe des familiären nicht-medullären Schilddrüsenkarzinoms."},"es":{"name":"Carcinoma tiroideo papilar familiar con neoplasia renal papilar","synonyms":["PTC-RCC"],"definition":"Es un síndrome tumoral hereditario extremadamente infrecuente perteneciente al grupo de cáncer de tiroides familiar no medular."},"it":{"name":"Carcinoma papillare familiare della tiroide associato a neoplasia papillare renale","synonyms":["PTC-RCC"]},"nl":{"name":"Familiaal papillair schildkliercarcinoom met renale papillaire neoplasie","synonyms":["PTC-RCC"],"definition":"Een uiterst zeldzaam erfelijk tumorsyndroom, behorende tot de groep van familiale niet-medullaire schildklierkankers."},"pt":{"name":"Carcinoma papilar da tiroide com neoplasia papilar renal"},"pl":{"name":"Rodzinny rak brodawkowaty tarczycy z nowotworem brodawkowatym nerki","synonyms":["PTC-RCC"]},"cs":{"name":"Familiární papilární karcinom štítné žlázy s renální papilární neoplázií","synonyms":["PTC-RCC"]},"uk":{"name":"Сімейна папілярна карцинома щитоподібної залози з нирковою папілярною неоплазією","synonyms":["PTC-RCC"],"definition":"An extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group."},"zh":{"name":"家族性乳头状甲状腺癌伴发肾乳头瘤","synonyms":["PTC-RCC"],"definition":"家族性甲状腺乳头状癌合并肾乳头状瘤变（fPTC/PRN）是家族性非髓性甲状腺癌（fNMTC，见该词条）中极为罕见的遗传性肿瘤综合征。"},"tr":{"name":"Renal papiller neoplazi ile seyreden ailesel papiller tiroid karsinomu","synonyms":["PTC-RCC"]}},"xrefs":[{"source":"OMIM","code":"605642","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C64","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C73","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"592241909"},{"source":"MONDO","code":"0011578","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274358","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":319494,"name":"Familial nonmedullary thyroid carcinoma","classifications":[156,193,202]},{"orpha":319328,"name":"Inherited renal cancer-predisposing syndrome","classifications":[156,188,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"10843148[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-10-14","source":"10843148[PMID]_10211600[PMID]","terms":[{"hpo":"HP:3000037","label":"Abnormality of neck blood vessel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012288","label":"Neoplasm of head and neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005994","label":"Nodular goiter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006766","label":"Papillary renal cell carcinoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002895","label":"Papillary thyroid carcinoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002733","label":"Abnormality of the lymph nodes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002730","label":"Chronic noninfectious lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006528","label":"Chronic lung disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003003","label":"Colon cancer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006735","label":"Renal cortical adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011798","label":"Renal oncocytoma","frequency":"Occasional (29-5%)","criteria":null}]}}