{"orpha":254902,"name":"Renal tubulopathy-encephalopathy-liver failure syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254902/","orphanet_url":"https://www.orpha.net/en/disease/detail/254902","names":{"fr":{"name":"Syndrome de tubulopathie rénale-encéphalopathie-insuffisance hépathique","definition":"Spectre de phénotypes dont les manifestations sont similaires, mais plus légères que celles observées dans le syndrome GRACILE et qui peuvent être associées à une encéphalopathie et à des troubles psychiatriques."},"de":{"name":"Renale Tubulopathie-Enzephalopathie-Leberversagen-Syndrom","synonyms":["Syndrom der renalen Tubulopathie mit Enzephalopathie und Leberversagen"],"definition":"Die Assoziation von renaler Tubulopathie mit Enzephalopathie und Leberversagen umfasst ein Spektrum von Phänotypen mit ähnlichen, aber milderen Manifestationen als beim GRACILE-Syndrom (siehe dort), das mit Enzephalopathie und psychiatrischen Störungen einhergehen kann."},"es":{"name":"Síndrome de tubulopatía renal-encefalopatía-insuficiencia hepática","synonyms":["Síndrome de tubulopatía renal-encefalopatía-fallo hepático"],"definition":"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."},"it":{"name":"Tubulopatia renale - encefalopatia - insufficienza epatica"},"nl":{"name":"Renale tubulopathie - encefalopathie - leverfalen-syndroom","definition":"Renale tubulopathie - encefalopathie - leverfalen beschrijft een spectrum van fenotypes met manifestaties gelijkaardig aan, maar milder dan die bij GRACILE-syndroom (zie deze term) en die kunnen geassocieerd worden met encefalopathie en psychiatrische stoornissen."},"pt":{"name":"Tubulopatia renal - encefalopatia - insuficiência hepática"},"pl":{"name":"Tubulopatia nerkowa - encefalopatia - niewydolność wątroby"},"cs":{"name":"Syndrom zahrnující renální tubulopatii, encefalopatii a selhání jater"},"uk":{"name":"Синдром ниркової тубулопатії-енцефалопатії-печінкової недостатності","definition":"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."},"zh":{"name":"肾小管病变-脑病-肝衰竭综合征","definition":"肾小管病-脑病-肝衰竭描述了一系列的表型，其表现与Gracile综合征(见该词条)相似，但较轻，可有脑病和精神障碍相关表现。"},"tr":{"name":"Renal tübülopati-ensefalopati-karaciğer yetmezliği sendromu"}},"xrefs":[{"source":"OMIM","code":"124000","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1811137713"},{"source":"MONDO","code":"0016811","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274075","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309136,"name":"Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[],"genes":[{"symbol":"BCS1L","name":"BCS1 ubiquinol-cytochrome c reductase complex chaperone","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11528392[PMID]","hgnc":"1020","ensembl":"ENSG00000074582","omim":"603647","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}