{"Name":"Adult hepatocellular carcinoma","DiseaseID__c":"GARD:0006608","id":6608,"encodedName":"adult-hepatocellular-carcinoma","IsDeleted":false,"Disease_Name_Full__c":"Adult hepatocellular carcinoma","Xref_IDs__c":"1197204009; C0279607; C7956; DOID:0070328; MEDGEN:124633; MONDO:0016216; ORPHA:210159","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016216","Disease_Description__c":"A rare carcinoma of the liver characterized by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumors generally have poor prognosis.","GARD_Name__c":"Adult hepatocellular carcinoma","GARD_Synonym__c":"adult hcc; adult hcc (hepatocellular carcinoma); adult hepatoma; adult primary carcinoma of liver cell; adult primary carcinoma of the liver cell; adult primary hepatocellular carcinoma; adult primary hepatoma; adult primary liver cell carcinoma; hepatocellular carcinoma of adults","Curated_Disease_Description_Source__c":"MONDO:0016216","Curated_Disease_Description__c":"A rare carcinoma of the liver characterized by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumors generally have poor prognosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:210159","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016216","ORPHANET_ID__c":"ORPHA:210159","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Carcinoma hepatocelular del adulto","Spanish_Description_Source__c":"ORPHA:210159","Spanish_Description__c":"Es un carcinoma hepático poco frecuente caracterizado por la aparición de uno, varios o múltiples nódulos en cualquier parte del hígado, compuestos por células epiteliales neoplásicas con diferenciación hepatocelular. La gran mayoría de los tumores se asocian a una enfermedad hepática crónica (como la hepatitis B o C, o la esteatohepatitis) o por exposición a diversos agentes exógenos. Los pacientes pueden presentarse con signos y síntomas asociados al tumor o bien con la afección subyacente. Las manifestaciones típicas incluyen dolor abdominal en el cuadrante superior derecho, pérdida de peso, hepatoesplenomegalia, ictericia y ascitis. Por lo general, los tumores sintomáticos presentan peor pronóstico.","Spanish_Disease_Name__c":"carcinoma hepatocelular del adulto","Spanish_GARD_Synonym__c":"chc del adulto","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":"A rare carcinoma of the liver characterized by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumors generally have poor prognosis.","Curated_Disease_Description_Source__c":"MONDO:0016216","GARD_Synonym__c":"adult hcc; adult hcc (hepatocellular carcinoma); adult hepatoma; adult primary carcinoma of liver cell; adult primary carcinoma of the liver cell; adult primary hepatocellular carcinoma; adult primary hepatoma; adult primary liver cell carcinoma; hepatocellular carcinoma of adults","Name":"Adult hepatocellular carcinoma","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Rare Cancers Australia","Website__c":"http://rarecancers.org.au/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"American Liver Foundation","Website__c":"https://liverfoundation.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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:210159"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:210159"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0345904"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006608","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0279607","Source__c":"C0279607","Xref__c":"C0279607"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=124633","Source__c":"C0279607","Xref__c":"MEDGEN:124633"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C7956","Source__c":"C0279607; MONDO:0016216","Xref__c":"C7956"},{"URL__c":"https://www.orpha.net/en/disease/detail/210159","Source__c":"C0279607; MONDO:0016216; ORPHA:210159","Xref__c":"ORPHA:210159"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070328","Source__c":"MONDO:0016216","Xref__c":"DOID:0070328"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016216","Source__c":"GARD:0006608","Xref__c":"MONDO:0016216"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197204009","Source__c":"C0279607","Xref__c":"1197204009"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PIK3CA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pik3ca","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CASP8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"AXIN1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{"Specialist":["Cancer - Oncologist","Gastroenterology"],"Disease Category":["Cancer","Gastroenterology"]},"synonyms":["adult hcc"," adult hcc (hepatocellular carcinoma)"," adult hepatoma"," adult primary carcinoma of liver cell"," adult primary carcinoma of the liver cell"," adult primary hepatocellular carcinoma"," adult primary hepatoma"," adult primary liver cell carcinoma"," hepatocellular carcinoma of adults"]}