{"orpha":255249,"name":"Leigh syndrome with nephrotic syndrome","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Infantile subacute necrotizing encephalopathy with nephrotic syndrome","Leigh disease with nephrotic syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Leigh syndrome","url":"https://raremap.alftech.space/d/ORPHA-255249/","orphanet_url":"https://www.orpha.net/en/disease/detail/255249","names":{"fr":{"name":"Syndrome de Leigh avec syndrome néphrotique","synonyms":["Encéphalomyopathie nécrosante subaiguë avec syndrome néphrotique","Maladie de Leigh avec syndrome néphrotique"]},"de":{"name":"Leigh-Syndrom mit nephrotischem Syndrom","synonyms":["Encephalomyelopathie, infantile nekrotisierende subakute, mit nephrotischem Syndrom","Enzephalomyelopathie, infantile nekrotisierende subakute, mit nephrotischem Syndrom","Leigh-Krankheit mit nephrotischem Syndrom"]},"es":{"name":"Síndrome de Leigh con síndrome nefrótico","synonyms":["Encefalopatía necrotizante subaguda infantil con síndrome nefrótico","Enfermedad de Leigh con síndrome nefrótico"]},"it":{"name":"Sindrome di Leigh con sindrome nefrosica","synonyms":["Encefalopatia necrotizzante subacuta infantile con sindrome nefrosica","Malattia di Leigh con sindrome nefrosica"]},"nl":{"name":"Syndroom van Leigh met nefrotisch syndroom","synonyms":["Infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom","Ziekte van Leigh met nefrotisch syndroom"]},"pt":{"name":"Síndrome de Leigh com síndrome nefrótico","synonyms":["Doença de Leigh com síndrome nefrótico","Encefalopatia necrotizante subaguda infantil com síndrome nefrótico"]},"pl":{"name":"Zespół Leigha z zespołem nerczycowym","synonyms":["Choroba Leigha z zespołem nerczycowym","Dziecięca podostra encefalopatia martwicza z zespołem nerczycowym"]},"cs":{"name":"Leighův syndrom s nefrotickým syndromem","synonyms":["Leighova choroba s nefrotickým syndromem","Dětská subakutní nekrotizující encefalopatie s nefrotickým syndromem"]},"uk":{"name":"Синдром Лі з нефротичним синдромом","synonyms":["Дитяча підгостра некротична енцефалопатія з нефротичним синдромом","Хвороба Лі з нефротичним синдромом"]},"zh":{"name":"Leigh综合征伴肾病综合征","synonyms":["婴儿亚急性坏死性脑病伴肾病综合征"],"definition":"一种罕见的遗传性神经代谢疾病，以脑肌病(包括发育迟缓、眼球震颤、进行性共济失调、肌张力障碍、肌萎缩、视力丧失、感音神经性聋、癫痫发作)和双侧对称性基底节或脑干病变为特征，与肾病综合征有关。"},"tr":{"name":"Nefrotik sendrom ile seyreden Leigh sendromu","synonyms":["Nefrotik sendromlu Leigh hastalığı","Nefrotik sendromlu infantil subakut nekrotizan ensefalopati"]}},"xrefs":[{"source":"UMLS","code":"C5190833","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":506,"name":"Leigh syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}