{"orpha":97286,"name":"Carney-Stratakis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Carney dyad","Carney-Stratakis dyad","GIST-paraganglioma dyad","Paraganglioma and gastric stromal sarcoma"],"definition":"Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97286/","orphanet_url":"https://www.orpha.net/en/disease/detail/97286","names":{"fr":{"name":"Syndrome de Carney-Stratakis","synonyms":["Dyade GIST-paragangliome","Dyade de Carney","Dyade de Carney-Stratakis","Paragangliome et sarcome stromal gastrique"],"definition":"Le syndrome de Carney-Stratakis, récemment décrit, est caractérisé par la survenue, souvent en de multiples sites, à la fois de tumeurs stromales gastrointestinales (GIST) et de paragangliomes."},"de":{"name":"Carney-Stratakis-Syndrom","synonyms":["Carney-Stratakis-Dyade","GIST-Paragangliom-Dyade","Paragangliom und Magenstroma-Sarkom"],"definition":"Das Carney-Stratakis-Syndrom ist ein erst kürzlich beschriebenes familiäres Syndrom mit gastro-intestinalen Stromatumoren (GIST) und Paragangliomen, oft gleichzeitig an mehreren Orten."},"es":{"name":"Síndrome de Carney-Stratakis","synonyms":["Díada Carney","Díada Carney-Stratakis","Díada GIST-paraganglioma","Díada de Carney","Díada de Carney-Stratakis","Paraganglioma y sarcoma del estroma gástrico","Paraganglioma y sarcoma estromal gástrico"],"definition":"El síndrome de Carney-Stratakis es un síndrome familiar descrito recientemente y que se caracteriza por tumores del estroma gástrico intestinal (GIST, en sus siglas en inglés) y paragangliomas que, a menudo, se localizan en varios sitios."},"it":{"name":"Sindrome di Carney-Stratakis","synonyms":["Associazione GIST - paraganglioma","Diade di Carney","Diade di Carney-Stratakis","Paraganglioma e sarcoma stromale gastrico"]},"nl":{"name":"Syndroom van Carney-Stratakis","synonyms":["Dyade van Carney","Dyade van Carney-Stratakis","GIST-paraganglioom-dyade","Paraganglioom en gastrisch stromaal sarcoom"],"definition":"Een familiaal syndroom, gekenmerkt door gastro-intestinale stromale tumoren (GIST) en paragangliomen, vaak op meerdere plaatsen."},"pt":{"name":"Síndrome Carney-Stratakis","synonyms":["Díade Carney","Díade Carney-Stratakis","Díade GIST-paraganglioma","Paraganglioma e sarcoma do estroma gástrico"]},"pl":{"name":"Zespół Carneya i Stratakisa","synonyms":["Diada Carneya","Diada Carneya i Stratakisa","Diada GIST-paraganglioma","Paraganglioma i mięsak podścieliskowy żołądka"]},"cs":{"name":"Carneyův-Stratakisův syndrom","synonyms":["Carneyho dyáda","Carneyho-Stratakisova dyáda","Dyáda GIST-paragangliom","Paragangliom a gastrický stromální sarkom","Carney-Stratakisův syndrom","Carney-Stratakisova dyáda"]},"uk":{"name":"Синдром Карні-Стратакіса","synonyms":["Діада Карні","Діада Карні-Стратакіс","Діада GIST-парагангліома","Парагангліома та стромальна саркома шлунка"],"definition":"Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites."},"zh":{"name":"Carney-Stratakis综合征","synonyms":["副神经节瘤并胃间质肉瘤"],"definition":"Carney-Stratakis综合征是最近被报道的一种家族性综合征，其特征是胃肠道间质瘤（GIST）和副神经节瘤，通常位于多个部位。"},"tr":{"name":"Carney-Stratakis sendromu","synonyms":["Carney çifti","Carney-Stratakis çifti","GIST-paragangliyom çifti","Paragangliyom ve gastrik stromal sarkom"]}},"xrefs":[{"source":"OMIM","code":"606864","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D44.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F7A.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1797208660"},{"source":"MONDO","code":"0011740","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564650","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847319","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10643","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":100094,"name":"Multiple polyglandular tumor","classifications":[156,193,202]}],"children":[],"genes":[{"symbol":"SDHB","name":"succinate dehydrogenase complex iron sulfur subunit B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17667967[PMID]","hgnc":"10681","ensembl":"ENSG00000117118","omim":"185470","loci":["1p36.13"]},{"symbol":"SDHC","name":"succinate dehydrogenase complex subunit C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17667967[PMID]","hgnc":"10682","ensembl":"ENSG00000143252","omim":"602413","loci":["1q23.3"]},{"symbol":"SDHD","name":"succinate dehydrogenase complex subunit D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17667967[PMID]","hgnc":"10683","ensembl":"ENSG00000204370","omim":"602690","loci":["11q23.1"]},{"symbol":"SDHA","name":"succinate dehydrogenase complex flavoprotein subunit A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31413764[PMID]_23282968[PMID]","hgnc":"10680","ensembl":"ENSG00000073578","omim":"600857","loci":["5p15.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100723","label":"Gastrointestinal stroma tumor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002668","label":"Paraganglioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005214","label":"Intestinal obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null}]}}