{"Name":"Hepatoblastoma","DiseaseID__c":"GARD:0002657","id":2657,"encodedName":"hepatoblastoma","IsDeleted":false,"Disease_Name_Full__c":"Hepatoblastoma","Xref_IDs__c":"109843000; 423022745; 45024009; C0206624; C22.2; C3728; D018197; DOID:687; HP:0002884; MEDGEN:61644; MONDO:0018666; ORPHA:449","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0018666","Disease_Description__c":"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).","GARD_Name__c":"Hepatoblastoma","GARD_Synonym__c":"embryonal hepatoma; hbl; hbl - hepatoblastoma; hepatoblastoma of liver; hepatoblastoma, malignant; paediatric embryonal hepatoma; paediatric hepatoblastoma; pediatric embryonal hepatoma; pediatric hepatoblastoma","Curated_Disease_Description_Source__c":"GARD:0002657","Curated_Disease_Description__c":"Hepatoblastoma is a rare malignant (cancerous) tumor of the live, usually affecting young children. In early stages of the condition, there may be no concerning signs or symptoms. As the tumor gets larger, affected children may experience a painful, abdominal lump; swelling of the abdomen; unexplained weight loss; loss of appetite; and/or nausea and vomiting. The exact underlying cause of Hepatoblastoma is poorly understood. Risk factors for the tumor include prematurity with a very low birth weight, early exposure to hepatitis B infection, biliary atresia, and several different genetic conditions (i.e. Beckwith-Wiedemann syndrome, familial adenomatous polyposis, Aicardi syndrome, Glycogen storage disease, and Simpson-Golabi-Behmel syndrome).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:449","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018666","ORPHANET_ID__c":"ORPHA:449","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hepatoblastoma","Spanish_Description_Source__c":"ORPHA:449","Spanish_Description__c":"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).","Spanish_Disease_Name__c":"hepatoblastoma","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:250908","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Hepatoblastoma is a rare malignant (cancerous) tumor of the live, usually affecting young children. In early stages of the condition, there may be no concerning signs or symptoms. As the tumor gets larger, affected children may experience a painful, abdominal lump; swelling of the abdomen; unexplained weight loss; loss of appetite; and/or nausea and vomiting. The exact underlying cause of Hepatoblastoma is poorly understood. Risk factors for the tumor include prematurity with a very low birth weight, early exposure to hepatitis B infection, biliary atresia, and several different genetic conditions (i.e. Beckwith-Wiedemann syndrome, familial adenomatous polyposis, Aicardi syndrome, Glycogen storage disease, and Simpson-Golabi-Behmel syndrome).","Curated_Disease_Description_Source__c":"GARD:0002657","GARD_Synonym__c":"embryonal hepatoma; hbl; hbl - hepatoblastoma; hepatoblastoma of liver; hepatoblastoma, malignant; paediatric embryonal hepatoma; paediatric hepatoblastoma; pediatric embryonal hepatoma; pediatric hepatoblastoma","Name":"Hepatoblastoma","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex's Lemonade Stand Foundation","Website__c":"https://www.alexslemonade.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Cancer Hope Network","Website__c":"https://www.cancerhopenetwork.org/"},{"Account_Name__c":"Rare Cancer Alliance","Website__c":"https://www.rare-cancer.org/"},{"Account_Name__c":"American Liver Foundation","Website__c":"https://liverfoundation.org/"},{"Account_Name__c":"Cancer Support Community","Website__c":"https://www.cancersupportcommunity.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:449"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:449"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:449"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0206624"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3728","Source__c":"C0206624; MONDO:0018666","Xref__c":"C3728"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=61644","Source__c":"C0206624","Xref__c":"MEDGEN:61644"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A687","Source__c":"MONDO:0018666","Xref__c":"DOID:687"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018197","Source__c":"C0206624; MONDO:0018666","Xref__c":"D018197"},{"URL__c":"https://www.orpha.net/en/disease/detail/449","Source__c":"C0206624; MONDO:0018666; ORPHA:449","Xref__c":"ORPHA:449"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0206624","Source__c":"C0206624","Xref__c":"C0206624"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002884","Source__c":"C0206624","Xref__c":"HP:0002884"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=45024009","Source__c":"C0206624","Xref__c":"45024009"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=109843000","Source__c":"C0206624","Xref__c":"109843000"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/C22.2","Source__c":"MONDO:0018666","Xref__c":"C22.2"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018666","Source__c":"GARD:0002657","Xref__c":"MONDO:0018666"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022745","Xref__c":"423022745"}],"tags":{"Specialist":["Cancer - Oncologist","Gastroenterology","Pediatrics"],"Disease Category":["Cancer","Gastroenterology"]},"synonyms":["embryonal hepatoma"," hbl"," hbl - hepatoblastoma"," hepatoblastoma of liver"," hepatoblastoma, malignant"," paediatric embryonal hepatoma"," paediatric hepatoblastoma"," pediatric embryonal hepatoma"," pediatric hepatoblastoma"]}