{"orpha":449,"name":"Hepatoblastoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A malignant hepatic tumor, typically affecting the pediatric population, arising mostly in an otherwise healthy liver. The most common signs are abdominal distension and abdominal mass. Sometimes patients present with anorexia, weight loss, fatigue. Most HBLs are sporadic, but some cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy, and familial adenomatous polyposis (FAP).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-449/","orphanet_url":"https://www.orpha.net/en/disease/detail/449","names":{"fr":{"name":"Hépatoblastome","definition":"Tumeur hépatique maligne, touchant typiquement la population pédiatrique, apparaissant le plus souvent dans un foie par ailleurs sain. Les signes les plus courants sont une distension abdominale et une masse abdominale. On observe quelquefois une anorexie, une perte de poids et de la fatigue. Les HB sont pour la plupart sporadiques, mais certains sont associés à des facteurs génétiques, notamment les syndromes de croissance excessive, tels que le syndrome de Beckwith-Wiedemann (SBW) ou l'hémihypertrophie, et la polypose adénomateuse familiale (PAF)."},"de":{"name":"Hepatoblastom","definition":"Ein maligner Lebertumor, der typischerweise bei Kindern auftritt und meist in einer ansonsten gesunden Leber entsteht. Die häufigsten Symptome sind Blähungen und Verdickungen im Bauchraum. Manchmal leiden die Patienten auch an Anorexie, Gewichtsverlust und Müdigkeit. Die meisten Fälle treten sporadisch auf, einige werden jedoch mit genetischen Faktoren in Verbindung gebracht, insbesondere mit Großwuchssyndromen wie dem Beckwith-Wiedemann-Syndrom (BWS) oder der Hemi-Hypertrophie und der familiären adenomatösen Polyposis (FAP)."},"es":{"name":"Hepatoblastoma","definition":"Es un tumor hepático maligno que afecta habitualmente a la población pediátrica y que se origina mayoritariamente en un hígado que, por lo demás, está sano. Los signos más comunes son la distensión y la presencia de una masa abdominal. En ocasiones, los pacientes presentan anorexia, pérdida de peso y cansancio. La mayoría de los HB son esporádicos, pero algunos casos se asocian a factores genéticos, especialmente a síndromes de sobrecrecimiento, como el síndrome de Beckwith-Wiedemann (SBW) o la hemihipertrofia, y la poliposis adenomatosa familiar (PAF)."},"it":{"name":"Epatoblastoma","definition":"L'epatoblastoma (HB) è un tumore epatico maligno, che di solito colpisce i bambini che presentano un fegato altrimenti sano. I segni clinici più comuni sono la distensione dell'addome e la presenza di una massa addominale. Occasionalmente i pazienti presentano anoressia, perdita di peso e affaticamento. La maggior parte dei casi è sporadica, ma alcuni casi sono associati a condizioni genetiche, in particolare le sindromi da iperaccrescimento, come la sindrome di Beckwith-Wiedemann (BWS), l'emi-ipertrofia e la poliposi adenomatosa familiare (FAP)."},"nl":{"name":"Hepatoblastoom","definition":"Een maligne tumor van lever, die doorgaans de pediatrische populatie treft en meestal ontstaat in een voor de rest gezonde lever. De meest gangbare verschijnselen zijn opgezwollen abdomen en abdominale massa. Soms presenteren patiënten zich met anorexie, gewichtsverlies en vermoeidheid. De meeste gevallen van hepatoblastoom zijn sporadisch, maar sommige gevallen zijn geassocieerd met genetische factoren, vooral overgroeisyndromen zoals syndroom van Beckwith-Wiedemann (BWS) of hemihypertrofie, en familiale adenomateuze polyposis (FAP)."},"pt":{"name":"Hepatoblastoma"},"pl":{"name":"Hepatoblastoma"},"cs":{"name":"Hepatoblastom"},"uk":{"name":"Гепатобластома","definition":"A malignant hepatic tumor, typically affecting the pediatric population, arising mostly in an otherwise healthy liver. The most common signs are abdominal distension and abdominal mass. Sometimes patients present with anorexia, weight loss, fatigue. Most HBLs are sporadic, but some cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy, and familial adenomatous polyposis (FAP)."},"zh":{"name":"肝母细胞瘤"},"tr":{"name":"Hepatoblastom"}},"xrefs":[{"source":"OMIM","code":"114550","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C22.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2C12.01","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1556608523"},{"source":"MONDO","code":"0018666","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018197","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0206624","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2657","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10062001","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":306636,"name":"Rare tumor of liver and intrahepatic biliary tract","classifications":[183,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.017,"area":"Italy","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.022,"area":"Latvia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.004,"area":"Lithuania","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.031,"area":"Malta","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.033,"area":"Norway","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.023,"area":"Poland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.008,"area":"Portugal","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.032,"area":"Slovakia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.025,"area":"Slovenia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.009,"area":"Spain","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.011,"area":"Switzerland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.032,"area":"Netherlands","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.028,"area":"United Kingdom","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.008,"area":"Bulgaria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.042,"area":"Croatia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.005,"area":"Czech Republic","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.046,"area":"Estonia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.031,"area":"Finland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.021,"area":"Germany","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.043,"area":"Ireland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.009,"area":"Austria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.019,"area":"Belgium","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}