{"orpha":33402,"name":"Pediatric hepatocellular carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Childhood-onset HCC","Childhood-onset hepatocellular carcinoma","Pediatric HCC"],"definition":"A rare, aggressive and malignant hepatic tumor arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background (70% of cases).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-33402/","orphanet_url":"https://www.orpha.net/en/disease/detail/33402","names":{"fr":{"name":"Hépatocarcinome de l'enfant","synonyms":["CHC pédiatrique","HCC de l'enfant","Hépatocarcinome pédiatrique"],"definition":"Tumeur maligne rare et agressive du foie qui se développe à partir des hépatocytes, principalement chez l'enfant de plus de 10 ans sur foie cirrhotique ou non cirrhotique, ce dernier cas étant plus fréquent (70 % des cas)."},"de":{"name":"Karzinom, hepatozelluläres, des Kindes","definition":"Ein seltener, aggressiver und bösartiger Lebertumor, der von den Hepatozyten ausgeht. Er entwickelt sich hauptsächlich bei Kindern im Alter von über 10 Jahren, entweder mit zirrhotischem Hintergrund oder häufiger mit nicht zirrhotischem Hintergrund (70 % der Fälle)."},"es":{"name":"Carcinoma hepatocelular pediátrico","synonyms":["Carcinoma hepatocelular de inicio en la infancia","HCC de inicio en la infancia","HCC pediátrico","Hepatocarcinoma de inicio en la infancia","Hepatocarcinoma pediátrico"],"definition":"Es un tumor hepático poco frecuente, agresivo y maligno, que se origina en los hepatocitos. Se desarrolla principalmente en niños a partir de los 10 años de edad en un contexto cirrótico o, con mayor frecuencia, no cirrótico (70% de los casos)."},"it":{"name":"Carcinoma epatocellulare pediatrico","synonyms":["Carcinoma epatocellulare a esordio nell'infanzia","HCC a esordio nell'infanzia","HCC pediatrico"],"definition":"Si tratta di una neoplasia epatica rara, aggressiva e maligna, che origina dagli epatociti. Colpisce per lo più i bambini dopo i 10 anni, talvolta con anamnesi positiva per cirrosi oppure, più spesso, in sua assenza (70% dei pazienti)."},"nl":{"name":"Pediatrisch hepatocellulair carcinoom","synonyms":["HCC met aanvang in de kindertijd","Hepatocellulair carcinoom met aanvang in de kindertijd","Pediatrisch HCC"],"definition":"Een zeldzame, agressieve en maligne levertumor die ontstaat uit hepatocyten. De tumor ontwikkelt vooral bij kinderen ouder dan 10 jaar, ofwel met een achtergrond van cirrose, ofwel, gangbaarder, in een niet-cirrotische context (70% van de gevallen)."},"pt":{"name":"Carcinoma hepatocelular pediátrico","synonyms":["HCC pediátrico","Carcinoma hepatocelular de início na infância","HCC de início na infância"]},"pl":{"name":"Dziecięcy rak wątrobowokomórkowy","synonyms":["Dziecięcy HCC","HCC o początkiem w wieku dziecięcym","Rak wątrobowokomórkowy o początku w wieku dziecięcym"],"definition":"Rzadki, agresywny i złośliwy nowotwór wątroby wywodzący się z hepatocytów. Rozwija się głównie u dzieci powyżej 10 roku życia, albo na tle marskości wątroby, lub częściej bez związku z marskością wątroby (70% przypadków)."},"cs":{"name":"Hepatocelulární karcinom u dětí a adolescentů","synonyms":["HCC u detí a adolescentu","HCC v dětství","Hepatocelulární karcinom u dětí","HCC u dětí a adolescentů"]},"uk":{"name":"Дитяча гепатоцелюлярна карцинома","synonyms":["ГЦК, що розпочалася в дитинстві","Дитяча гепатоцелюлярна карцинома","Дитяча ГЦК"],"definition":"A rare, aggressive and malignant hepatic tumor arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background (70% of cases)."},"zh":{"name":"小儿肝细胞癌","synonyms":["儿童起病型肝细胞癌"]},"tr":{"name":"Pediatrik hepatosellüler karsinom","synonyms":["Pediatrik HCC","Çocukluk çağı başlangıçlı HCC","Çocukluk çağı başlangıçlı hepatosellüler karsinom"]}},"xrefs":[{"source":"OMIM","code":"114550","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C22.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C12.02","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018055","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0279606","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9331","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":88673,"name":"Hepatocellular carcinoma","classifications":[183,202,233]}],"children":[],"genes":[{"symbol":"CTNNB1","name":"catenin beta 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"9927029[PMID]","hgnc":"2514","ensembl":"ENSG00000168036","omim":"116806","loci":["3p22.1"]},{"symbol":"MET","name":"MET proto-oncogene, receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"9927037[PMID]","hgnc":"7029","ensembl":"ENSG00000105976","omim":"164860","loci":["7q31.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"24439603[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"United States","status":"Validated","source":"24439603[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-21","source":"28631359[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006254","label":"Elevated alpha-fetoprotein","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410019","label":"Epigastric pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002605","label":"Hepatic necrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030242","label":"Portal vein thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null}]}}