{"Name":"Infantile liver failure","DiseaseID__c":"GARD:0017820","id":17820,"encodedName":"infantile-liver-failure","IsDeleted":false,"Disease_Name_Full__c":"Infantile liver failure","Xref_IDs__c":"C5681094; DOID:0080716; MEDGEN:1813021; MONDO:0000023; OMIMPS:615438; ORPHA:464724","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":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:464724","Disease_Description__c":"A rare genetic parenchymatous liver disease characterized by infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice, as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment.","GARD_Name__c":"Infantile liver failure","GARD_Synonym__c":"fever-associated acute infantile liver failure syndrome; infantile liver failure syndrome; liver failure, infantile","Curated_Disease_Description_Source__c":"ORPHA:464724","Curated_Disease_Description__c":"A rare genetic parenchymatous liver disease characterized by infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice, as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:464724","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0000023","ORPHANET_ID__c":"ORPHA:464724","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de insuficiencia hepática aguda infantil asociada a fiebre","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de insuficiencia hepática aguda infantil asociada a fiebre","Spanish_GARD_Synonym__c":"síndrome de fallo hepático agudo infantil asociado a fiebre","Category_Linearization__c":"ORPHA:57146","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 genetic parenchymatous liver disease characterized by infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice, as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment.","Curated_Disease_Description_Source__c":"ORPHA:464724","GARD_Synonym__c":"fever-associated acute infantile liver failure syndrome; infantile liver failure syndrome; liver failure, infantile","Name":"Infantile liver failure","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Liver Disease Foundation","Website__c":"https://childliverdisease.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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":"Infancy","Provided_By__c":"ORPHA:464724"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080716","Source__c":"MONDO:0000023","Xref__c":"DOID:0080716"},{"URL__c":"https://www.orpha.net/en/disease/detail/464724","Source__c":"C5681094; MONDO:0000023; ORPHA:464724","Xref__c":"ORPHA:464724"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1813021","Source__c":"C5681094","Xref__c":"MEDGEN:1813021"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS615438","Source__c":"MONDO:0000023","Xref__c":"OMIMPS:615438"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5681094","Source__c":"C5681094","Xref__c":"C5681094"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1208726006","Source__c":"C5681094","Xref__c":"1208726006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0000023","Source__c":"GARD:0017820","Xref__c":"MONDO:0000023"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RINT1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NBAS","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["fever-associated acute infantile liver failure syndrome"," infantile liver failure syndrome"," liver failure, infantile"]}