{"orpha":255235,"name":"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy"],"definition":"A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of hypotonia, failure to thrive, global developmental delay, and persistent lactic acidosis. The disease course is variable and ranges from intractable diarrhea and respiratory failure with fatal outcome in early infancy to a milder phenotype with survival into childhood. Additional reported features include sensorineural hearing loss, microcephaly, seizures, pigmentary retinopathy, and renal tubulopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-255235/","orphanet_url":"https://www.orpha.net/en/disease/detail/255235","names":{"fr":{"name":"Déplétion de l'ADN mitochondrial, forme encéphalomyopathique avec tubulopathie rénale","synonyms":["Déplétion de l'ADNmt, forme encéphalomyopathique avec tubulopathie rénale"],"definition":"Syndrome rare de déplétion de l'ADN mitochondrial caractérisé par l'apparition néonatale ou infantile d'une hypotonie, d'un retard de croissance, d'un retard de développement global et d'une acidose lactique persistante. L'évolution de la maladie est variable et oscille entre une diarrhée rebelle et une insuffisance respiratoire avec issue fatale dans la petite enfance et un phénotype plus léger avec une survie dans l'enfance. Parmi les autres caractéristiques rapportées figurent une perte auditive neurosensorielle, une microcéphalie, des crises d'épilepsie, une rétinopathie pigmentaire et une tubulopathie rénale."},"de":{"name":"Mitochondriales DNA-Depletionssyndrom, enzephalomyopathische Form mit renaler Tubulopathie","synonyms":["mtDNA-Depletionssyndrom, enzephalomyopathische Form mit renaler Tubulopathie"],"definition":"Ein mitochondriales DNA-Depletionssyndrom, das durch Hypotonie, Gedeihstörung, globale Entwicklungsverzögerung und anhaltende Laktatazidose im Neugeborenen- oder Säuglingsalter gekennzeichnet ist. Der Krankheitsverlauf ist variabel und reicht von hartnäckiger Diarrhöe und respiratorischem Versagen mit tödlichem Ausgang im frühen Säuglingsalter bis hin zu einem milderen Phänotyp mit Überleben bis ins Kindesalter. Darüber hinaus wird über Schallempfindungsschwerhörigkeit, Mikrozephalie, Krampfanfälle, Pigmentretinopathie und Nierentubulopathie berichtet."},"es":{"name":"Síndrome de depleción del ADN mitocondrial, forma encefalomiopática con tubulopatía renal","synonyms":["Síndrome de depleción del ADNmt, forma encefalomiopática con tubulopatía renal"],"definition":"Es un síndrome poco frecuente de depleción del ADN mitocondrial caracterizado por el inicio neonatal o en el lactante de hipotonía, fallo de medro, retraso global del desarrollo y acidosis láctica persistente. El curso de la enfermedad es variable y va desde la diarrea intratable y la insuficiencia respiratoria, con resultado fatal en el periodo de lactancia temprana, hasta un fenotipo más leve con supervivencia en la infancia. Otras características descritas incluyen pérdida auditiva neurosensorial, microcefalia, crisis, retinopatía pigmentaria y tubulopatía renal."},"it":{"name":"Sindrome da deplezione del DNA mitocondriale, forma encefalomiopatica con tubulopatia renale","synonyms":["Sindrome da deplezione del mtDNA, forma encefalomiopatica con tubulopatia renale"],"definition":"Si tratta di una malattia rara da deplezione del DNA mitocondriale, caratterizzata da ipotonia ad esordio neonatale o infantile, ritardo della crescita e dello sviluppo globale, e acidosi lattica persistente. Il decorso della malattia è variabile e comprende la diarrea non trattabile e l'insufficienza respiratoria letale nella prima infanzia, fino ad un fenotipo più lieve con pazienti che sopravvivono fino all'infanzia. I pazienti possono presentare anche sordità neurosensoriale, microcefalia, crisi epilettiche, retinite pigmentosa e tubulopatia renale."},"nl":{"name":"Mitochondriaal DNA-depletiesyndroom, encefalomyopathische vorm met renale tubulopathie","synonyms":["mtDNA-depletiesyndroom, encefalomyopathische vorm met renale tubulopathie"],"definition":"Een zeldzaam mitochondriaal DNA-depletiesyndroom, gekarakteriseerd door neonatale of infantiele aanvang van hypotonie, groeifalen, algehele ontwikkelingsachterstand, en persisterende lactaatacidose. Het ziekteverloop is variabel, gaande van refractaire diarree en respiratoir falen met fatale uitkomst in de vroege zuigelingentijd tot een milder fenotype met overleving tot in de kindertijd. Bijkomend gerapporteerde kenmerken zijn onder meer sensorineuraal gehoorverlies, microcefalie, insulten, pigmentretinopathie, en niertubulopathie."},"pt":{"name":"Síndrome de depleção de ADN mitocondrial, forma encefalomiopática com tubulopatia renal","synonyms":["Síndrome de depleção de ADNmt, forma encefalomiopática com tubulopatia renal"]},"pl":{"name":"Zespół deplecji mitochondrialnego DNA, postać encefalomiopatyczna z tubulopatią","synonyms":["Zespół deplecji mtDNA, postać encefalomiopatyczna z tubulopatią"]},"cs":{"name":"Syndrom mitochondriální deplece DNA, encefalomyopatická forma s renální tubulopatií","synonyms":["Syndrom deplece mtDNA, encefalomyopatická forma s renální tubulopatií"]},"uk":{"name":"Синдром виснаження мітохондріальної ДНК, енцефаломіопатична форма з нирковою тубулопатією","synonyms":["Синдром виснаження мтДНК, енцефаломіопатична форма з нирковою тубулопатією"],"definition":"A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of hypotonia, failure to thrive, global developmental delay, and persistent lactic acidosis. The disease course is variable and ranges from intractable diarrhea and respiratory failure with fatal outcome in early infancy to a milder phenotype with survival into childhood. Additional reported features include sensorineural hearing loss, microcephaly, seizures, pigmentary retinopathy, and renal tubulopathy."},"zh":{"name":"脑肌病型线粒体DNA缺失综合征伴肾小管病变","synonyms":["脑肌病型线粒体DNA缺失综合征伴肾小管病变"]},"tr":{"name":"Mitokondriyal DNA tükenme sendromu, renal tübülopati ile seyreden ensefalomiyopatik form","synonyms":["mtDNA tükenme sendromu, böbrek tübülopatili ensefalomiyopatik form"]}},"xrefs":[{"source":"OMIM","code":"612075","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"802186282"},{"source":"MONDO","code":"0012792","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2749861","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13200","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254803,"name":"Mitochondrial DNA depletion syndrome, encephalomyopathic form","classifications":[150,156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"RRM2B","name":"ribonucleotide reductase regulatory TP53 inducible subunit M2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24741716[PMID]","hgnc":"17296","ensembl":"ENSG00000048392","omim":"604712","loci":["8q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"17486094[PMID]_19138848[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17486094[PMID]_19138848[PMID]"}],"phenotypes":null}