{"Name":"Renal tubulopathy-encephalopathy-liver failure syndrome","DiseaseID__c":"GARD:0017231","id":17231,"encodedName":"renal-tubulopathy-encephalopathy-liver-failure-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Renal tubulopathy-encephalopathy-liver failure syndrome","Xref_IDs__c":"C4274075; MEDGEN:900319; MONDO:0016811; ORPHA:254902","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016811","Disease_Description__c":"Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders.","GARD_Name__c":"Renal tubulopathy-encephalopathy-liver failure syndrome","GARD_Synonym__c":"renal tubulopathy with encephalopathy and liver failure syndrome","Curated_Disease_Description_Source__c":"ORPHA:254902","Curated_Disease_Description__c":"Renal tubulopathy-encephalopathy-liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:254902","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016811","ORPHANET_ID__c":"ORPHA:254902","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de tubulopatía renal-encefalopatía-insuficiencia hepática","Spanish_Description_Source__c":"ORPHA:254902","Spanish_Description__c":"La tubulopatía renal-encefalopatía-insuficiencia hepática describe un espectro de fenotipos con manifestaciones similares pero más leves que las observadas en el síndrome GRACILE y que pueden estar asociadas con encefalopatía y trastornos psiquiátricos.","Spanish_Disease_Name__c":"síndrome de tubulopatía renal-encefalopatía-insuficiencia hepática","Spanish_GARD_Synonym__c":"síndrome de tubulopatía renal-encefalopatía-fallo hepático","Category_Linearization__c":"ORPHA:68367","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":"Renal tubulopathy-encephalopathy-liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders.","Curated_Disease_Description_Source__c":"ORPHA:254902","GARD_Synonym__c":"renal tubulopathy with encephalopathy and liver failure syndrome","Name":"Renal tubulopathy-encephalopathy-liver failure syndrome","estimateUsa":""}],"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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:254902"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:254902"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=900319","Source__c":"C4274075","Xref__c":"MEDGEN:900319"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274075","Source__c":"C4274075","Xref__c":"C4274075"},{"URL__c":"https://www.orpha.net/en/disease/detail/254902","Source__c":"C4274075; MONDO:0016811; ORPHA:254902","Xref__c":"ORPHA:254902"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717053007","Source__c":"C4274075","Xref__c":"717053007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016811","Source__c":"GARD:0017231","Xref__c":"MONDO:0016811"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BCS1L","GHR_URL__c":"https://medlineplus.gov/genetics/gene/bcs1l","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Gastroenterology","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":["renal tubulopathy with encephalopathy and liver failure syndrome"]}