{"orpha":254898,"name":"Deafness-encephaloneuropathy-obesity-valvulopathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome"],"definition":"Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254898/","orphanet_url":"https://www.orpha.net/en/disease/detail/254898","names":{"fr":{"name":"Syndrome de surdité-encéphaloneuropathie-obésité-valvulopathie","definition":"Le syndrome de surdité-encéphaloneuropathie-obésité-valvulopathie est une maladie mitochondriale rare à variabilité clinique importante. Il se caractérise par une encéphalomyopathie, une maladie rénale (syndrome néphrotique), une atrophie optique, une surdité précoce, une pancytopénie, une obésité et une cardiopathie (valvulopathie). Ont aussi été associés une macrocéphalie, un déficit intellectuel, une hyperlactatémie, un ratio lactate/pyruvate élevé, un diabète insulino-dépendant, un livédo réticulaire, une atteinte hépatique et des convulsions."},"de":{"name":"Schwerhörigkeit-Enzephaloneuropathie-Adipositas-Valvulopathie-Syndrom","definition":"Das Schwerhörigkeit-Enzephaloneuropathie-Adipositas-Valvulopathie-Syndrom ist eine seltene mitochondriale Erkrankung mit ausgeprägter klinischer Variabilität, die typischerweise durch Enzephalomyopathie, Nierenerkrankungen (nephrotisches Syndrom), Optikusatrophie, früh einsetzende Taubheit, Panzytopenie, Fettleibigkeit und Herzerkrankungen (Valvulopathie) gekennzeichnet ist. Darüber hinaus wurden auch Makrozephalie, Intelligenzminderung, Hyperlaktatämie, erhöhtes Laktat/Pyruvat-Verhältnis, insulinabhängiger Diabetes, Livedo reticularis, Leberfunktionsstörungen und Anfälle assoziiert."},"es":{"name":"Síndrome de sordera-encefaloneuropatía-obesidad-valvulopatía","synonyms":["Síndrome de hipoacusia-encefaloneuropatía-obesidad-valvulopatía"],"definition":"El síndrome de sordera-encefaloneuropatía-obesidad-valvulopatía es una enfermedad mitocondrial poco frecuente con una marcada variabilidad clínica caracterizada típicamente por encefalomiopatía, enfermedad renal (síndrome nefrótico), atrofia óptica, sordera de inicio temprano, pancitopenia, obesidad y enfermedad cardíaca (valvulopatía). También se ha asociado a macrocefalia, discapacidad intelectual, hiperlactacidemia con la relación lactato/piruvato elevada, diabetes insulinodependiente, livedo reticularis, disfunción hepática y crisis."},"it":{"name":"Sordità - encefaloneuropatia - obesità - valvulopatia","synonyms":["Perdita dell'udito - encefaloneuropatia - obesità - valvulopatia"],"definition":"La sindrome da sordità-encefaloneuropatia-obesità-valvulopatia è una malattia rara dei mitocondri caratterizzata da un quadro clinico molto variabile. Di solito esordisce con encefalomiopatia, malattia renale (sindrome nefrosica), atrofia ottica, sordità ad esordio precoce, pancitopenia, obesità e cardiopatia (valvulopatia). Possono associarsi la macrocefalia, la disabilità intellettiva, l'iperlattatemia, un aumento del rapporto lattato/piruvato, il diabete insulinodipendente, la livedo reticolare, la disfunzione epatica e le crisi epilettiche."},"nl":{"name":"Doofheid - encefaloneuropathie - obesitas - valvulopathie-syndroom","synonyms":["Gehoorverlies - encefaloneuropathie - obesitas - valvulopathie-syndroom"],"definition":"Doofheid - encefaloneuropathie - obesitas - valvulopathie-syndroom is een zeldzame mitochondriale ziekte met een grote klinische variabiliteit die typisch wordt gekarakteriseerd door encefalomyopathie, nierziekte (nefrotisch syndroom), opticusatrofie, doofheid met vroege aanvang, pancytopenie, obesitas, en hartziekte (valvulopathie). Bijkomend werden ook macrocefalie, intellectuele beperkingen, hyperlactatemie, verhoogde lactaat/pyruvaat-verhouding, insuline-afhankelijke diabetes, livedo reticularis, dysfunctie van de lever en insulten geassocieerd."},"pt":{"name":"Surdez - encefaloneuropatia - obesidade - valvulopatia","synonyms":["Perda auditiva - encefaloneuropatia - obesidade - valvulopatia"]},"pl":{"name":"Głuchota - encefaloneuropatia - otyłość - walwulopatia","synonyms":["Utrata słuchu - encefaloneuropatia - otyłość - walwulopatia"]},"cs":{"name":"Syndrom zahrnující hluchotu, encefaloneuropatii, obezitu a onemocnění chlopní","synonyms":["Syndrom zahrnující ztrátu sluchu, encefaloneuropatii, obezitu a onemocnění chlopní"]},"uk":{"name":"Синдром глухоти-енцефалоневропатії-ожиріння-вальвулопатії","synonyms":["Синдром втрати слуху-енцефалоневропатії-ожиріння-вальвулопатії"],"definition":"Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated."},"zh":{"name":"耳聋-脑神经病变-肥胖-心脏瓣膜病综合征","synonyms":["耳聋-脑神经病变-肥胖-心脏瓣膜病综合征"],"definition":"Deafness-encephaloneuropathy-obesity-valvulopathy综合征是一种罕见的线粒体疾病，具有显著的临床异质性，其典型特征是脑肌病、肾病(肾病综合征)、视神经萎缩、早发性耳聋、全血细胞减少、肥胖和心脏病(瓣膜病)。此外，巨颅畸形、智力障碍、高乳酸血症、乳酸/丙酮酸比值升高、胰岛素依赖型糖尿病、网状肝纤维化、肝功能障碍和癫痫发作也与此有关。"},"tr":{"name":"Sağırlık-ensefalonöropati-obezite-valvülopati sendromu","synonyms":["İşitme kaybı-ensefalonöropati-obezite-valvülopati sendromu"]}},"xrefs":[{"source":"OMIM","code":"614651","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.22","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1199266019"},{"source":"MONDO","code":"0013837","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706538","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":35656,"name":"Coenzyme Q10 deficiency","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"PDSS1","name":"decaprenyl diphosphate synthase subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17332895[PMID]","hgnc":"17759","ensembl":"ENSG00000148459","omim":"607429","loci":["10p12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"17332895[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17332895[PMID]"}],"phenotypes":null}