{"Name":"Pediatric hepatocellular carcinoma","DiseaseID__c":"GARD:0009331","id":9331,"encodedName":"pediatric-hepatocellular-carcinoma","IsDeleted":false,"Disease_Name_Full__c":"Pediatric hepatocellular carcinoma","Xref_IDs__c":"1208349005; C0279606; C7955; DOID:0070322; MEDGEN:75999; MONDO:0018055; ORPHA:33402","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018055","Disease_Description__c":"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).","GARD_Name__c":"Pediatric hepatocellular carcinoma","GARD_Synonym__c":"childhood carcinoma of the liver cell; childhood hepatocellular carcinoma; childhood-onset hcc; childhood-onset hcc (hepatocellular carcinoma); childhood-onset hepatocellular carcinoma; paediatric carcinoma of the liver cell; paediatric hcc; pediatric carcinoma of the liver cell; pediatric hcc; pediatric hcc (hepatocellular carcinoma)","Curated_Disease_Description_Source__c":"GARD:0009331","Curated_Disease_Description__c":"Childhood hepatocellular carcinoma (childhood HCC) is a rare type of malignant (cancerous) tumor that forms in the cells and tissues of the liver. Childhood HCC is usually found in older children and adolescents (10-14 years), but has been found in children younger than 5. Symptoms may include a mass in the abdomen, a swollen and painful abdomen, weight loss, poor appetite, yellowing of the skin and eyes (jaundice), vomiting, fever, itchy skin, and a decreased number of red blood cells (anemia). The cause of childhood HCC is not well understood; however, underlying disorders that cause liver dysfunction (ex. hepatitis B) and congenital or genetic disorders that affect the liver (ex. tyrosinemia type 1) may increase the risk for childhood HCC to occur.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:33402","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018055","ORPHANET_ID__c":"ORPHA:33402","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Carcinoma hepatocelular pediátrico","Spanish_Description_Source__c":"ORPHA:33402","Spanish_Description__c":"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).","Spanish_Disease_Name__c":"carcinoma hepatocelular pediátrico","Spanish_GARD_Synonym__c":"carcinoma hepatocelular de inicio en la infancia; hcc de inicio en la infancia; hcc pediátrico; hepatocarcinoma de inicio en la infancia; hepatocarcinoma pediátrico","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":"Childhood hepatocellular carcinoma (childhood HCC) is a rare type of malignant (cancerous) tumor that forms in the cells and tissues of the liver. Childhood HCC is usually found in older children and adolescents (10-14 years), but has been found in children younger than 5. Symptoms may include a mass in the abdomen, a swollen and painful abdomen, weight loss, poor appetite, yellowing of the skin and eyes (jaundice), vomiting, fever, itchy skin, and a decreased number of red blood cells (anemia). The cause of childhood HCC is not well understood; however, underlying disorders that cause liver dysfunction (ex. hepatitis B) and congenital or genetic disorders that affect the liver (ex. tyrosinemia type 1) may increase the risk for childhood HCC to occur.","Curated_Disease_Description_Source__c":"GARD:0009331","GARD_Synonym__c":"childhood carcinoma of the liver cell; childhood hepatocellular carcinoma; childhood-onset hcc; childhood-onset hcc (hepatocellular carcinoma); childhood-onset hepatocellular carcinoma; paediatric carcinoma of the liver cell; paediatric hcc; pediatric carcinoma of the liver cell; pediatric hcc; pediatric hcc (hepatocellular carcinoma)","Name":"Pediatric hepatocellular carcinoma","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"American Liver Foundation","Website__c":"https://liverfoundation.org/"},{"Account_Name__c":"Blue Faery The Adrienne Wilson Liver Cancer Association","Website__c":"https://www.bluefaery.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":"Adolescent","Provided_By__c":"ORPHA:33402"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:33402"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009331","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0279606","Source__c":"C0279606","Xref__c":"C0279606"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C7955","Source__c":"C0279606; MONDO:0018055","Xref__c":"C7955"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75999","Source__c":"C0279606","Xref__c":"MEDGEN:75999"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070322","Source__c":"MONDO:0018055","Xref__c":"DOID:0070322"},{"URL__c":"https://www.orpha.net/en/disease/detail/33402","Source__c":"C0279606; MONDO:0018055; ORPHA:33402","Xref__c":"ORPHA:33402"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1208349005","Source__c":"C0279606","Xref__c":"1208349005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018055","Source__c":"GARD:0009331","Xref__c":"MONDO:0018055"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MET","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:33402","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pain that is localized to the region of the upper abdomen immediately below the ribs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410019","HPO_Synonym__c":"Epigastrium pain","HPO_Name__c":"Epigastric pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33402","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030242","HPO_Synonym__c":"Blood clot in portal vein","HPO_Name__c":"Portal vein thrombosis","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33402","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33402","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006254","HPO_Synonym__c":"Increased levels of alpha fetoprotein; Increased serum alpha-fetoprotein; Serum alpha-fetoprotein increased","HPO_Name__c":"Elevated circulating alpha-fetoprotein concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:33402","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33402","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001395","HPO_Synonym__c":"Liver fibrosis","HPO_Name__c":"Hepatic fibrosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33402","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33402","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33402","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of cell death (necrosis) affecting the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002605","HPO_Name__c":"Hepatic necrosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Gastroenterology","Pediatrics"],"Disease Category":["Cancer","Gastroenterology"]},"synonyms":["childhood carcinoma of the liver cell"," childhood hepatocellular carcinoma"," childhood-onset hcc"," childhood-onset hcc (hepatocellular carcinoma)"," childhood-onset hepatocellular carcinoma"," paediatric carcinoma of the liver cell"," paediatric hcc"," pediatric carcinoma of the liver cell"," pediatric hcc"," pediatric hcc (hepatocellular carcinoma)"]}