{"orpha":1359,"name":"Carney complex","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Carney syndrome","Myxoma-spotty pigmentation-endocrine overactivity syndrome"],"definition":"A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1359/","orphanet_url":"https://www.orpha.net/en/disease/detail/1359","names":{"fr":{"name":"Complexe de Carney","synonyms":["Syndrome de Carney","Syndrome de myxome-hyperpigmentation-hyperactivité endocrinienne"],"definition":"Maladie endocrinienne rare caractérisée par des lentigines péri-orificielles spécifiques, des naevi bleus, des myxomes, diverses tumeurs endocriniennes dont la maladie corticosurrénalienne nodulaire pigmentée primaire, l'acromégalie, les tumeurs thyroïdiennes et un large éventail d'autres tumeurs."},"de":{"name":"Carney-Komplex","synonyms":["Carney-Syndrom","Myxom-fleckförmige Hautpigmentierung-endokrine Überaktivität-Syndrom"],"definition":"Eine seltene endokrine Erkrankung, die durch Lentigines mit spezifischer peri-orifikaler Verteilung, blaue Nävus, Myxome, verschiedene endokrine Tumoren einschließlich der primär pigmentierten nodulären adrenokortikalen Erkrankung (PPNAD), Akromegalie, Schilddrüsentumore und eine Vielzahl anderer Tumore gekennzeichnet ist."},"es":{"name":"Complejo de Carney","synonyms":["Síndrome de Carney","Síndrome de mixoma-pigmentación irregular-hiperactividad endocrina"],"definition":"Es una enfermedad endocrina poco frecuente caracterizada por lentigos de distribución periorificial característica, nevus azul, mixomas, diversos tumores endocrinos, incluyendo la enfermedad corticosuprarrenal nodular pigmentada primaria (PPNAD), acromegalia, tumores tiroideos y una amplia gama de otros tumores."},"it":{"name":"Complesso di Carney","synonyms":["Mixoma - macchie pigmentarie - iperattività endocrina","Sindrome di Carney","Sindrome mixoma-pigmentazione a chiazze-iperattività endocrina"]},"nl":{"name":"Carney-complex","synonyms":["Myxoom - gevlekte pigmentatie - endocriene overactiviteit-syndroom","Syndroom van Carney"],"definition":"Een zeldzame endocriene aandoening, gekenmerkt door lentigines met een specifieke periorificiale distributie, blauwe naevus, myxomen, verschillende endocriene tumoren waaronder primaire gepigmenteerde nodulaire adrenocorticale ziekte (PPNAD), acromegalie, schildkliertumoren, en een brede waaier van andere tumoren."},"pt":{"name":"Complexo Carney","synonyms":["Síndrome Carney","Síndrome de mixoma-pigmentação ponteada-hiperfuncionalidade endócrina"],"definition":"Doença endócrina rara caracterizada por lentigos com distribuição periorificial específica, nevo azul, mixomas, vários tumores endócrinos, incluindo doença adrenocortical nodular pigmentada primária (PPNAD), acromegalia, tumores da tiroide e uma ampla gama de outros tumores."},"pl":{"name":"Kompleks Carney'a","synonyms":["Śluzak - plamista pigmentacja skóry - nadmierna aktywność enokrynologiczna","Zespół Carney'a"]},"cs":{"name":"Carneyův komplex","synonyms":["Syndrom zahrnující myxom, skvrnitou pigmentaci a endokrinní hyperaktivitu","Carneyův syndrom"]},"uk":{"name":"Комплекс Карнея","synonyms":["Синдром Карнея","Синдром міксоми-плямистої пігментації-ендокринної гіперактивності"],"definition":"A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors."},"zh":{"name":"Carney综合征","synonyms":["黏液瘤-斑点样色素沉着-内分泌过度活动综合征"]},"tr":{"name":"Carney kompleksi","synonyms":["Carney sendromu","Miksoma-benekli pigmentasyon-endokrin aşırı aktivite sendromu"]}},"xrefs":[{"source":"OMIM","code":"160980","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605244","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610489","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D44.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A70.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1051158630"},{"source":"MONDO","code":"0015285","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D056733","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406810","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1119","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10076601","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":623,"name":"NAME syndrome","status":"inactive"}],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":100091,"name":"Adrenal/paraganglial tumor","classifications":[193,202]},{"orpha":271841,"name":"Genetic cardiac tumor","classifications":[156]},{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":100094,"name":"Multiple polyglandular tumor","classifications":[156,193,202]},{"orpha":168194,"name":"Rare cardiac tumor","classifications":[146,202]},{"orpha":314749,"name":"Rare disease with adrenal Cushing syndrome as a major feature","classifications":[193]}],"children":[],"genes":[{"symbol":"PRKAR1A","name":"protein kinase cAMP-dependent type I regulatory subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301463[PMID]","hgnc":"9388","ensembl":"ENSG00000108946","omim":"188830","loci":["17q24.2"]},{"symbol":"PDE11A","name":"phosphodiesterase 11A","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"21047926[PMID]","hgnc":"8773","ensembl":"ENSG00000128655","omim":"604961","loci":["2q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":750.0,"area":"Worldwide","status":"Validated","source":"34167977[PMID]_35165607[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":"2021-10-29","source":"20301463[PMID]_29939654[PMID]","terms":[{"hpo":"HP:0001580","label":"Pigmented micronodular adrenocortical disease","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001074","label":"Atypical nevi in non-sun exposed areas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100814","label":"Blue nevus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011672","label":"Cardiac myxoma","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0030428","label":"Cutaneous myxoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000845","label":"Elevated circulating growth hormone concentration","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000866","label":"Euthyroid multinodular goiter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010785","label":"Gonadal neoplasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003118","label":"Increased circulating cortisol level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030269","label":"Increased circulating insulin-like growth factor 1 concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001003","label":"Multiple lentigines","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000138","label":"Ovarian cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011760","label":"Pituitary growth hormone cell adenoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100619","label":"Sertoli cell neoplasm","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0005585","label":"Spotty hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010788","label":"Testicular neoplasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012743","label":"Abdominal obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100737","label":"Abnormal hard palate morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000008","label":"Abnormal morphology of female internal genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012206","label":"Abnormal sperm motility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012041","label":"Decreased fertility in males","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025383","label":"Dorsocervical fat pad","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030075","label":"Ductal carcinoma in situ","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030038","label":"Enchondroma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100751","label":"Esophageal neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010619","label":"Fibroadenoma of the breast","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001507","label":"Growth abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004324","label":"Increased body weight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100618","label":"Leydig cell neoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0500011","label":"Moon facies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100013","label":"Neoplasm of the breast","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100638","label":"Neoplasm of the pharynx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006753","label":"Neoplasm of the stomach","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010732","label":"Nodular changes affecting the eyelids","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000798","label":"Oligozoospermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025318","label":"Ovarian carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025274","label":"Ovarian dermoid cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012887","label":"Ovarian serous cystadenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030072","label":"Paranasal sinus neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100008","label":"Schwannoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001065","label":"Striae distensae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025451","label":"Testicular adrenal rest tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001907","label":"Thromboembolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000199","label":"Tongue nodules","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004944","label":"Dilatation of the cerebral artery","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006731","label":"Follicular thyroid carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002894","label":"Neoplasm of the pancreas","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100743","label":"Neoplasm of the rectum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002895","label":"Papillary thyroid carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002890","label":"Thyroid carcinoma","frequency":"Very rare (<4-1%)","criteria":"Diagnostic criterion"}]}}