{"orpha":255210,"name":"Mitochondrial DNA-associated Leigh syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MILS","Maternally-inherited Leigh disease","Maternally-inherited infantile subacute necrotizing encephalopathy","mtDNA-associated Leigh syndrome"],"definition":"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-255210/","orphanet_url":"https://www.orpha.net/en/disease/detail/255210","names":{"fr":{"name":"Syndrome de Leigh associé à une mutation de l'ADN mitochondrial","synonyms":["Encéphalomyopathie nécrosante subaiguë de transmission maternelle","MILS","Maladie de Leigh de transmission maternelle","Syndrome de Leigh associé à une mutation de l'ADNmt"],"definition":"Le syndrome de Leigh de transmission maternelle est un sous-type rare du syndrome de Leigh , apparaissant chez le nourrisson ou le petit enfant. Il est caractérisé sur le plan clinique par une encéphalopathie, une acidose lactique, des convulsions, une cardiomyopathie, des troubles respiratoires et un retard de développement. Le syndrome de Leigh de transmission maternelle résulte de mutations dans l'ADN mitochondrial, transmises par la mère."},"de":{"name":"Leigh-Syndrom, mitochondriale DNA-assoziiertes","synonyms":["Enzephalopathie, infantile nekrotisierende subakute, maternal vererbte","Leigh-Krankheit, maternal vererbte","MILS","mtDNA-assoziiertes Leigh-Syndrom"],"definition":"Das mütterlich vererbte Leigh-Syndrom ist ein seltener Untertyp des Leigh-Syndroms (s. dort) und klinisch gekennzeichnet durch Enzephalopathie, Laktatazidose, Krämpfe, Kardiomyopathie, Atemstörungen und verzögerte Entwicklung. Die Krankheit beginnt im Säuglings- oder frühen Kindesalter. Ursache sind mütterlich vererbte Mutationen der mitochondrialen DNA."},"es":{"name":"Síndrome de Leigh asociado al ADN mitocondrial","synonyms":["Encefalopatía necrotizante subaguda infantil de herencia materna","Enfermedad de Leigh de herencia materna","MILS","Síndrome de Leigh asociado al ADNmt"],"definition":"El síndrome de Leigh de herencia materna es un subtipo poco frecuente del síndrome de Leigh (consulte este término), clínicamente caracterizado por encefalopatía, acidosis láctica, convulsiones, miocardiopatía, trastornos respiratorios y retraso en el desarrollo, con aparición en la infancia o la niñez temprana. Está causado por mutaciones en el ADN mitocondrial heredadas por vía materna."},"it":{"name":"Sindrome di Leigh a trasmissione materna","synonyms":["Encefalopatia necrotizzante subacuta infantile a trasmissione materna","MILS","Malattia di Leigh a trasmissione materna"],"definition":"La sindrome di Leigh a trasmissione materna è un raro sottotipo della sindrome di Leigh (si veda questo termine) caratterizzato da encefalopatia, acidosi lattica, convulsioni, cardiomiopatia, disturbi respiratori e ritardo dello sviluppo, ad esordio nel periodo neonatale o nella prima infanzia. La sindrome è dovuta a mutazioni nel DNA mitocondriale ereditate per via materna."},"nl":{"name":"Mitochondriaal DNA-geassocieerd syndroom van Leigh","synonyms":["MILS","Maternaal overgeërfde infantiele subacute necrotiserende encefalopathie","Maternaal overgeërfde ziekte van Leigh","mtDNA-geassocieerd syndroom van Leigh"],"definition":"Een zeldzaam subtype van syndroom van Leigh, klinisch gekenmerkt door encefalopathie, lactaatacidose, insulten, cardiomyopathie, respiratoire aandoeningen, en ontwikkelingsachterstand, met aanvang in de zuigelingentijd of vroege kindertijd, en veroorzaakt door van de moeder overgeërfde mutaties in mitochondriaal DNA."},"pt":{"name":"Síndrome Leigh ADN mitocondrial-associado","synonyms":["Doença de Leigh com hereditariedade materna","Encefalopatia necrotizante subaguda infantil com hereditariedade materna","MILS","Síndrome Leigh ADN mitocondrial-associado"]},"pl":{"name":"Zespół Leigha dziedziczony od matki","synonyms":["Choroba Leigha dziedziczona od matki","Dziecięca podostra encefalopatia martwicza dziedziczona od matki","MILS"]},"cs":{"name":"Maternálně zděděný Leighův syndrom","synonyms":["MILS","Leighova choroba zděděná po matce","Dětská subakutní nekrotizující encefalopatie zděděná po matce"]},"uk":{"name":"Мітохондріальна ДНК-асоційована хвороба Лі","synonyms":["Успадкована від матері дитяча підгостра некротична енцефалопатія","Хвороба Лі, що успадковується по материнській лінії","MILS","мтДНК-асоційований синдром Лі"],"definition":"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA."},"zh":{"name":"线粒体DNA相关Leigh综合征","synonyms":["母系遗传的婴儿亚急性坏死性脑病"],"definition":"母系遗传性Leigh综合征是Leigh综合征（见该词条）的一种罕见亚型，临床特征为脑病、乳酸酸中毒、癫痫、心肌病、呼吸障碍和发育迟缓，起病于婴幼儿或儿童早期，由母系遗传性线粒体DNA突变所致。"},"tr":{"name":"Mitokondriyal DNA -ilişkili Leigh sendromu","synonyms":["MILS","mtDNA-ilişkili Leigh sendromu","Maternal-geçişli Leigh hastalığı","Maternal-geçişli infantil subakut nekrotizan ensefalopati"]}},"xrefs":[{"source":"OMIM","code":"500017","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C73.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"617486004"},{"source":"MONDO","code":"0016814","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536035","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931092","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3671","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":255199,"name":"OBSOLETE: Sporadic Leigh syndrome","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254776,"name":"Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MT-ATP6","name":"mitochondrially encoded ATP synthase membrane subunit 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19433277[PMID]_20301352[PMID]","hgnc":"7414","ensembl":"ENSG00000198899","omim":"516060","loci":["mitochondria"]},{"symbol":"MT-ND1","name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301352[PMID]_24830958[PMID]","hgnc":"7455","ensembl":"ENSG00000198888","omim":"516000","loci":["mitochondria"]},{"symbol":"MT-ND2","name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16738010[PMID]_16996290[PMID]_20301352[PMID]","hgnc":"7456","ensembl":"ENSG00000198763","omim":"516001","loci":["mitochondria"]},{"symbol":"MT-ND3","name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16023078[PMID]_20202874[PMID]_20301352[PMID]_22364517[PMID]","hgnc":"7458","ensembl":"ENSG00000198840","omim":"516002","loci":["mitochondria"]},{"symbol":"MT-ND4","name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301352[PMID]_20502985[PMID]","hgnc":"7459","ensembl":"ENSG00000198886","omim":"516003","loci":["mitochondria"]},{"symbol":"MT-ND5","name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11938446[PMID]_14520659[PMID]_20301352[PMID]","hgnc":"7461","ensembl":"ENSG00000198786","omim":"516005","loci":["mitochondria"]},{"symbol":"MT-ND6","name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14595656[PMID]_20301352[PMID]_23813926[PMID]","hgnc":"7462","ensembl":"ENSG00000198695","omim":"516006","loci":["mitochondria"]},{"symbol":"MT-TK","name":"mitochondrially encoded tRNA-Lys (AAA/G)","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301352[PMID]_24374964[PMID]","hgnc":"7489","ensembl":"ENSG00000210156","omim":"590060","loci":["mitochondria"]},{"symbol":"MT-TL1","name":"mitochondrially encoded tRNA-Leu (UUA/G) 1","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9323566[PMID]_10356136[PMID]_20301352[PMID]","hgnc":"7490","ensembl":"ENSG00000209082","omim":"590050","loci":["mitochondria"]},{"symbol":"MT-TV","name":"mitochondrially encoded tRNA-Val (GUN)","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11799391[PMID]_20301352[PMID]_24691472[PMID]","hgnc":"7500","ensembl":"ENSG00000210077","omim":"590105","loci":["mitochondria"]},{"symbol":"MT-TW","name":"mitochondrially encoded tRNA-Trp (UGA/G)","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9266739[PMID]_19349200[PMID]_20301352[PMID]","hgnc":"7501","ensembl":"ENSG00000210117","omim":"590095","loci":["mitochondria"]}],"genes_via_subtypes":[],"inheritance":["Mitochondrial inheritance"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-09","source":"29101127[PMID]_21402391[PMID]_20301352[PMID]","terms":[{"hpo":"HP:0000816","label":"Abnormality of Krebs cycle metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002490","label":"Increased CSF lactate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002572","label":"Episodic vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007183","label":"Focal T2 hyperintense basal ganglia lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003648","label":"Lacticaciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000091","label":"Abnormal renal tubule morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031434","label":"Abnormal speech prosody","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002483","label":"Bulbar signs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031546","label":"Cardiac conduction abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007108","label":"Demyelinating peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004885","label":"Episodic respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003348","label":"Hyperalaninemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002883","label":"Hyperventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003737","label":"Mitochondrial myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100611","label":"Multiple glomerular cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003481","label":"Segmental peripheral demyelination/remyelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003572","label":"Low plasma citrulline","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003200","label":"Ragged-red muscle fibers","frequency":"Very rare (<4-1%)","criteria":null}]}}