{"orpha":363534,"name":"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["mtDNA depletion syndrome, hepatocerebrorenal form"],"definition":"A rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hypore&#64258;exia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363534/","orphanet_url":"https://www.orpha.net/en/disease/detail/363534","names":{"fr":{"name":"Déplétion de l'ADN mitochondrial, forme hépato-cérébro-rénale","synonyms":["Déplétion de l'ADNmt, forme hépato-cérébro-rénale"],"definition":"Syndrome rare de déplétion de l'ADN mitochondrial, d'origine génétique, caractérisé par une hépatopathie débutant pendant la période néonatale ou la petite enfance (se manifestant par une hépatomégalie, une cholestase, des transaminases élevées, une coagulopathie, une hypoalbuminémie, des ascites et/ou une insuffisance hépatique) associée à une tubulopathie rénale et à des manifestations neurodégénératives progressives, comprenant une atrophie musculaire, une hyporéflexie, une ataxie, une neuropathie sensitive, une épilepsie, une déficience auditive neurosensorielle, une régression psychomotrice, une athétose, un nystagmus et/ou une ophtalmoplégie. Les patients présentent généralement des vomissements récurrents, un retard de croissance sévère, des difficultés à s'alimenter et une hypoglycémie à jeun."},"de":{"name":"Mitochondriales DNA-Depletionssyndrom, hepato-zerebro-renale Form","synonyms":["mtDNA-Depletionssyndrom, hepatozerebrorenales"]},"es":{"name":"Síndrome de depleción del ADN mitocondrial, forma hepato-cerebro-renal","synonyms":["Síndrome de depleción del ADNmt, forma hepato-cerebro-renal"],"definition":"El síndrome de depleción del ADN mitocondrial, forma hepato-cerebro-renal, es un síndrome de depleción del ADN mitocondrial genético y poco frecuente, caracterizado por una hepatopatía de inicio neonatal o en la infancia temprana (que se manifiesta con hepatomegalia, colestasis, aumento de las transaminasas, coagulopatía, hipoalbuminemia, ascitis y/o insuficiencia hepática) asociado con tubulopatía renal y manifestaciones neurodegenerativas progresivas que incluyen atrofia muscular, hiporreflexia, ataxia, neuropatía sensitiva , epilepsia, pérdida auditiva neurosensorial, regresión psicomotriz, atetosis, nistagmo y/o oftalmoplejía. Por lo general, los afectados presentan vómitos recurrentes, fallo de medro grave, dificultades para alimentarse e hipoglucemia en ayunas."},"it":{"name":"Sindrome da deplezione del DNA mitocondriale, forma epato-cerebro-renale","synonyms":["Sindrome da deplezione del mtDNA, forma epato-cerebro-renale"],"definition":"La forma epato-cerebro-renale della sindrome da deplezione del DNA mitocondriale è una sindrome genetica rara da deplezione del DNA mitocondriale, che esordisce in epoca neonatale o nella prima infanzia (con epatomegalia, colestasi, aumento dei livelli delle transaminasi, coagulopatia, ipoalbuminemia, ascite e/o insufficienza epatica), associata a tubulopatia renale e sintomi neurodegenerativi progressivi, che comprendono l'atrofia muscolare, l'iporeflessia, l'atassia, la neuropatia sensoriale, l'epilessia, la sordità neurosensoriale, la regressione psicomotoria, l'atetosi, il nistagmo e/o l'oftalmoplegia. Di solito i pazienti presentano vomito ricorrente, grave ritardo della crescita, difficoltà di alimentazione ed ipoglicemia a digiuno."},"nl":{"name":"Mitochondriaal DNA-depletiesyndroom, hepatocerebrorenale vorm","synonyms":["mtDNA-depletiesyndroom, hepatocerebrorenale vorm"],"definition":"Mitochondriaal DNA-depletiesyndroom, hepatocerebrorenale vorm is een zeldzaam, genetisch, mitochondriaal DNA-depletiesyndroom dat gekarakteriseerd wordt door neonatale of vroeg-infantiele aanvang van hepatopathie (die zich manifesteert met hepatomegalie, cholestase, verhoogde transaminasen, coagulopathie, hypoalbuminemie, ascites, en/of leverfalen), geassocieerd met renale tubulopathie en progressieve neurodegeneratieve manifestaties, waaronder musculaire atrofie, hyporeflexie, ataxie, sensorische neuropathie, epilepsie, sensorineuraal gehoorverlies, psychomotorische regressie, athetose, nystagmus, en/of oftalmoplegie. Doorgaans presenteren patiënten zich met recurrent braken, ernstige groeiachterstand, voedingsproblemen, en hypoglycemie bij vasten."},"pt":{"name":"Síndrome de depleção do ADN mitocondrial, forma hepatocerebrorenal","synonyms":["Síndrome de depleção do ADNmt, forma hepatocerebrorenal"]},"pl":{"name":"Zespół deplecji mitochondrialnego DNA, postać wątrobowo-mózgowo-nerkowa","synonyms":["Zespół deplecji mtDNA, postać wątrobowo-mózgowo-nerkowa"]},"cs":{"name":"Syndrom deplece mitochondriální DNA, hepatocerebrorenální forma","synonyms":["Syndrom deplece mtDNA, hepatocerebrorenální forma"]},"uk":{"name":"Синдром виснаження мітохондріальної ДНК, гепатоцереброренальна форма","synonyms":["Синдром виснаження мтДНК, гепатоцереброренальна форма"],"definition":"A rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hypore&#64258;exia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia."},"zh":{"name":"线粒体DNA缺失综合征，肝脑肾型","synonyms":["mtDNA缺失综合征肝脑肾型"]},"tr":{"name":"Mitokondriyal DNA deplesyon sendromu, hepatoserebrorenal formu","synonyms":["mtDNA tükenme sendromu, hepatoserebrorenal formu"]}},"xrefs":[{"source":"OMIM","code":"271245","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1285620325"},{"source":"MONDO","code":"0018197","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190602","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":254871,"name":"Mitochondrial DNA depletion syndrome, hepatocerebral form","classifications":[150,156,183]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]}],"children":[],"genes":[{"symbol":"TWNK","name":"twinkle mtDNA helicase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23375728[PMID]","hgnc":"1160","ensembl":"ENSG00000107815","omim":"606075","loci":["10q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"23375728[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}