{"orpha":1501,"name":"Adrenocortical carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ACC"],"definition":"A rare malignant adrenal disease characterized by a tumor that arises from the adrenal cortex. The clinical presentation depends on the hormones secreted; in children virilization is a predominant feature; other manifestations can include symptoms of Cushing syndrome or symptoms related to tumor volume or metastases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1501/","orphanet_url":"https://www.orpha.net/en/disease/detail/1501","names":{"fr":{"name":"Corticosurrénalome","synonyms":["Carcinome corticosurrénalien"],"definition":"Maladie rare et maligne des surrénales caractérisée par une tumeur développée à partir du cortex surrénalien. Le tableau clinique dépend des hormones sécrétées ; chez les enfants, la virilisation est une caractéristique prédominante ; d'autres manifestations peuvent inclure des symptômes du syndrome de Cushing ou des symptômes liés au volume de la tumeur ou aux métastases."},"de":{"name":"Adrenokortikales Karzinom","synonyms":["ACC","Nebennierenrinden-Karzinom"],"definition":"Eine seltene maligne Nebennierenerkrankung, die durch einen Tumor gekennzeichnet ist, der von der Nebennierenrinde ausgeht. Das klinische Erscheinungsbild hängt von den ausgeschütteten Hormonen ab; bei Kindern ist Virilisierung ein vorherrschendes Merkmal; andere Manifestationen können Symptome des Cushing-Syndroms oder Symptome im Zusammenhang mit dem Tumorvolumen oder Metastasen umfassen."},"es":{"name":"Carcinoma adrenocortical","definition":"Es una enfermedad maligna poco frecuente de la glándula suprarrenal caracterizada por un tumor que se origina en la corteza suprarrenal. La presentación clínica depende de las hormonas secretadas; en niños, la virilización es una característica predominante; otras manifestaciones pueden incluir síntomas del síndrome de Cushing o síntomas relacionados con el volumen tumoral o las metástasis."},"it":{"name":"Carcinoma adrenocorticale","synonyms":["ACC"]},"nl":{"name":"Bijnierschorscarcinoom","synonyms":["ACC","Adrenocorticaal carcinoom"],"definition":"Een zeldzame maligne adrenale aandoening, gekenmerkt door een tumor die ontstaat uit de bijnierschors. De klinische presentatie hangt af van de hormonen die worden afgescheiden; bij kinderen is virilisatie een hoofdkenmerk; mogelijke andere manifestaties zijn symptomen van syndroom van Cushing of symptomen gerelateerd aan tumorvolume of uitzaaiingen."},"pt":{"name":"Carcinoma adrenocortical","synonyms":["ACC"]},"pl":{"name":"Rak kory nadnerczy","synonyms":["ACC"]},"cs":{"name":"Adrenokortikální karcinom","synonyms":["ACC"]},"uk":{"name":"Адренокортикальна карцинома","synonyms":["ACC"],"definition":"A rare cancer that arises from the adrenal cortex."},"zh":{"name":"肾上腺皮质癌"},"tr":{"name":"Adrenokortikal karsinom"}},"xrefs":[{"source":"OMIM","code":"202300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C74.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2D11.Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"114092945"},{"source":"MONDO","code":"0006639","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"6639","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018268","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0206686","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"558","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10001388","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":100091,"name":"Adrenal/paraganglial tumor","classifications":[193,202]},{"orpha":314749,"name":"Rare disease with adrenal Cushing syndrome as a major feature","classifications":[193]}],"children":[],"genes":[{"symbol":"TP53","name":"tumor protein p53","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11600572[PMID]","hgnc":"11998","ensembl":"ENSG00000141510","omim":"191170","loci":["17p13.1"]},{"symbol":"CDKN2A","name":"cyclin dependent kinase inhibitor 2A","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"25490274[PMID]","hgnc":"1787","ensembl":"ENSG00000147889","omim":"600160","loci":["9p21.3"]},{"symbol":"CTNNB1","name":"catenin beta 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"24747642[PMID]","hgnc":"2514","ensembl":"ENSG00000168036","omim":"116806","loci":["3p22.1"]},{"symbol":"PRKAR1A","name":"protein kinase cAMP-dependent type I regulatory subunit alpha","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"31147626[PMID]","hgnc":"9388","ensembl":"ENSG00000108946","omim":"188830","loci":["17q24.2"]},{"symbol":"TERT","name":"telomerase reverse transcriptase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"25490274[PMID]","hgnc":"11730","ensembl":"ENSG00000164362","omim":"187270","loci":["5p15.33"]},{"symbol":"TP53","name":"tumor protein p53","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"25490274[PMID]","hgnc":"11998","ensembl":"ENSG00000141510","omim":"191170","loci":["17p13.1"]},{"symbol":"ZNRF3","name":"zinc and ring finger 3","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"24747642[PMID]","hgnc":"18126","ensembl":"ENSG00000183579","omim":"612062","loci":["22q12.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.75,"area":"Europe","status":"Validated","source":"European Medicines Agency[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.03,"area":"Europe","status":"Not yet validated","source":"22796286[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.082,"area":"Portugal","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.173,"area":"Austria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.18,"area":"Belgium","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.249,"area":"Bulgaria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.547,"area":"Croatia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.271,"area":"Czech Republic","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.314,"area":"Estonia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.225,"area":"Finland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.173,"area":"Germany","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.17,"area":"Iceland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.133,"area":"Ireland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.288,"area":"Italy","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.514,"area":"Latvia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.464,"area":"Lithuania","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.188,"area":"Malta","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.226,"area":"Norway","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.433,"area":"Poland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.234,"area":"Slovakia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.244,"area":"Slovenia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.215,"area":"Spain","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.141,"area":"Switzerland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.167,"area":"Netherlands","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.183,"area":"United Kingdom","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-06","source":"26191527[PMID]_29087170[PMID]","terms":[{"hpo":"HP:0006744","label":"Adrenocortical carcinoma","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0500022","label":"Abnormal serum dehydroepiandrosterone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000080","label":"Abnormality of reproductive system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011748","label":"Adrenocorticotropic hormone deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025436","label":"Elevated serum 11-deoxycortisol","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004324","label":"Increased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000859","label":"Increased circulating aldosterone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030348","label":"Increased circulating androgen concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025380","label":"Increased circulating androstenedione concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003118","label":"Increased circulating cortisol level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025134","label":"Increased serum estradiol","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012030","label":"Increased urinary cortisol level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030078","label":"Lung adenocarcinoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025269","label":"Panic attack","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003466","label":"Paradoxical increased cortisol secretion on dexamethasone suppression test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001065","label":"Striae distensae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003110","label":"Abnormality of urine homeostasis","frequency":"Occasional (29-5%)","criteria":null}]}}