{"orpha":139411,"name":"Carney triad","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139411/","orphanet_url":"https://www.orpha.net/en/disease/detail/139411","names":{"fr":{"name":"Triade de Carney","definition":"La triade de Carney est une maladie non héréditaire caractérisée par la présence de tumeurs stromales gastro-intestinales (GIST, tumeurs mésenchymateuses intra-murales des voies gastro-intestinales affectant les cellules de la crête neurale ou les neurones), de chondromes pulmonaires et de paragangliomes extra-surrénaliens."},"de":{"name":"Carney-Trias (Triade)"},"es":{"name":"Tríada de Carney","definition":"Es un trastorno no hereditario poco frecuente caracterizado por tumores del estroma gastrointestinal (TEGI, tumores mesenquimales intramurales del tracto gastrointestinal de origen neuronal o en las células de la cresta neural), condromas pulmonares y paragangliomas extra-adrenales."},"it":{"name":"Triade di Carney"},"nl":{"name":"Carney-triade","definition":"Een zeldzame, niet-erfelijke aandoening, gekenmerkt door gastro-intestinale stromale tumoren (GIST, intramurale mesenchymale tumoren van maag-darmstelsel afkomstig van neuronen of cellen van de neurale lijst), pulmonale chondromen en extra-adrenale paragangliomen."},"pt":{"name":"Tríade de Carney","definition":"A tríade de Carney é uma doença rara não hereditária caracterizada por tumores no estroma gastrointestinal (GIST, tumores mesenquimais intramurais do tracto gastrointestinal com origem nas células neuronais ou da crista neural), condromas pulmonares e paragangliomas extra-suprarrenais."},"pl":{"name":"Traida Carney'a"},"cs":{"name":"Carneyho trias"},"uk":{"name":"Тріада Карні","definition":"A rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas."},"zh":{"name":"Carney三联病","definition":"一种罕见的非遗传性疾病，其特征是胃肠道间质瘤（GIST，起源于神经元或神经嵴细胞的胃肠道壁内间叶肿瘤）、肺软骨瘤和肾上腺外副神经节瘤。"},"tr":{"name":"Carney üçlüsü"}},"xrefs":[{"source":"OMIM","code":"604287","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":"1771169701"},{"source":"MONDO","code":"0011424","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565803","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858592","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10924","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":"SDHA","name":"succinate dehydrogenase complex flavoprotein subunit A","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"26173966[PMID]","hgnc":"10680","ensembl":"ENSG00000073578","omim":"600857","loci":["5p15.33"]},{"symbol":"SDHB","name":"succinate dehydrogenase complex iron sulfur subunit B","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"26173966[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":"Major susceptibility factor in","status":"Assessed","source":"26173966[PMID]","hgnc":"10682","ensembl":"ENSG00000143252","omim":"602413","loci":["1q23.3"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"23652673[PMID]"},{"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:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100723","label":"Gastrointestinal stroma tumor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100243","label":"Leiomyosarcoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002666","label":"Pheochromocytoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002717","label":"Adrenal overactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008256","label":"Adrenocortical adenoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100721","label":"Mediastinal lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002668","label":"Paraganglioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002113","label":"Pulmonary infiltrates","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null}]}}