{"orpha":550,"name":"MELAS","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes","Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes","Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes"],"definition":"A rare neurometabolic genetic disorder which is progressive and multisystemic due to mitochondrial dysfunction and that is characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-550/","orphanet_url":"https://www.orpha.net/en/disease/detail/550","names":{"fr":{"name":"MELAS","synonyms":["Encéphalomyopathie mitochondriale, acidose lactique, pseudo-épisodes vasculaires cérébraux","Encéphalopathie mitochondriale, acidose lactique, pseudo-épisodes vasculaires cérébraux","Myopathie mitochondriale, encéphalopathie, acidose lactique, pseudo-épisodes vasculaires cérébraux"],"definition":"Maladie neurométabolique rare d'origine génétique, progressive et multisystémique en raison d'un dysfonctionnement mitochondrial, caractérisée par une encéphalomyopathie, une acidose lactique et des épisodes mimant un accident vasculaire cérébral."},"de":{"name":"MELAS","synonyms":["MELAS-Syndrom","Mitochondriale Enzephalomyopathie mit Laktatazidose und schlaganfallähnlichen Episoden"],"definition":"Eine seltene genetisch bedingte neurometabolische Erkrankung, die auf einer mitochondrialen Dysfunktion beruht und progredient und multisystemisch verläuft.Sie ist gekennzeichnet durch Enzephalomyopathie, Laktatazidose und schlaganfallartige Episoden."},"es":{"name":"MELAS","synonyms":["Encefalomiopatía mitocondrial, acidosis láctica y episodios similares al ictus","Encefalopatía mitocondrial, acidosis láctica y episodios similares al ictus","Miopatía mitocondrial, encefalopatía, acidosis láctica y episodios similares al ictus"],"definition":"Es un trastorno genético neurometabólico poco frecuente multisistético y progresivo debido a una disfunción mitocondrial y que está caracterizado por encefalomiopatía, acidosis láctica y episodios que simulan ictus."},"it":{"name":"MELAS","synonyms":["Encefalomiopatia mitocondriale - acidosi lattica - episodi ictus-simili","Miopatia mitocondriale - encefalopatia - acidosi lattica - episodi ictus-simili"],"definition":"Si tratta di una malattia neurometabolica genetica rara, progressiva e multisistemica, causata da una disfunzione mitocondriale, caratterizzata da encefalomiopatia, acidosi lattica ed episodi simil-ictus."},"nl":{"name":"MELAS","synonyms":["Mitochondriale encefalomyopathie, lactaatacidose en beroerteachtige episodes","Mitochondriale encefalopathie, lactaatacidose en beroerteachtige episodes","Mitochondriale myopathie, encefalopathie, melkzuuracidose en beroerteachtige episodes"],"definition":"Een zeldzame, genetische neurometabole aandoening die progressief en multisystemisch is vanwege mitochondriale disfunctie, gekenmerkt door encefalomyopathie, lactaatacidose, en beroerte-achtige episodes."},"pt":{"name":"MELAS","synonyms":["Encefalomiopatia mitocondrial-acidose láctica e episódios ictus-like","Miopatia mitocondrial-encefalopatia-acidose láctica e episódios ictus-like"]},"pl":{"name":"MELAS","synonyms":["Encefalopatia mitochondrialna, kwasica mleczanowa z epizodami udaropodobnymi","Miopatia mitochondrialna, encefalopatia, kwasica mleczanowa i epizody udaropodobne"],"definition":"Dokładna patogeneza nie została w pełni wyjaśniona. U podstaw objawów klinicznych leży niedobór energii z powodu dysfunkcji mitochondriów. Spośród dotychczas zidentyfikowanych mutacji w 19 genach mitochondrialnych najczęstsza (stanowiąca około 80%) jest mutacja 3243Asup G w genie mitochondrialnego tRNA Leu(UUR) (MT-TL1). Mutacje te prowadzą do dysfunkcji mitochondrialnego tRNA, zaburzając syntezę białek mitochondrialnych."},"cs":{"name":"MELAS","synonyms":["Mitochondriální encefalomyopatie, laktátová acidóza a iktu podobné příhody","Mitochondriální myopatie, encefalopatie, laktátová acidóza a iktu podobné příhody"]},"uk":{"name":"MELAS","synonyms":["Мітохондріальна енцефаломіопатія, молочнокислий ацидоз та інсультоподібні епізоди","Мітохондріальна енцефалопатія, молочнокислий ацидоз та інсультоподібні епізоди","Мітохондріальна міопатія, енцефалопатія, молочнокислий ацидоз та інсультоподібні епізоди"],"definition":"A rare neurometabolic genetic disorder which is progressive and multisystemic due to mitochondrial dysfunction and that is characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes."},"zh":{"name":"线粒体脑肌病伴乳酸血症和卒中样发作","synonyms":["线粒体肌病/脑病伴乳酸血症和卒中样发作"]},"tr":{"name":"MELAS","synonyms":["Mitokondriyal ensefalomiyopati, laktik asidoz ve felç benzeri epizodlar","Mitokondriyal miyopati, ensefalopati, laktik asidoz ve felç benzeri epizodlar"]}},"xrefs":[{"source":"OMIM","code":"540000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C73.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1369657886"},{"source":"MONDO","code":"0010789","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017241","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0162671","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7009","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053872","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":217613,"name":"Mitochondrial disease with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":225700,"name":"Mitochondrial disease with epilepsy","classifications":[156,181]},{"orpha":217587,"name":"Mitochondrial disease with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":225703,"name":"Mitochondrial disease with peripheral neuropathy","classifications":[156,181]},{"orpha":206966,"name":"Mitochondrial myopathy","classifications":[156,181]},{"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]},{"orpha":522508,"name":"Rare genetic ophthalmic disorder with cortical involvement","classifications":[156]},{"orpha":519343,"name":"Rare ophthalmic disorder with cortical involvement","classifications":[189]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MT-CO3","name":"mitochondrially encoded cytochrome c oxidase III","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"18587274[PMID]","hgnc":"7422","ensembl":"ENSG00000198938","omim":"516050","loci":["mitochondria"]},{"symbol":"MT-TH","name":"mitochondrially encoded tRNA-His (CAU/C)","gene_type":"Non-coding RNA","association":"Candidate gene tested in","status":"Not yet assessed","source":"14967777[PMID]_15111688[PMID]","hgnc":"7487","ensembl":"ENSG00000210176","omim":"590040","loci":["mitochondria"]},{"symbol":"MT-TQ","name":"mitochondrially encoded tRNA-Gln (CAA/G)","gene_type":"Non-coding RNA","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"7495","ensembl":"ENSG00000210107","omim":"590030","loci":["mitochondria"]},{"symbol":"MT-TS2","name":"mitochondrially encoded tRNA-Ser (AGU/C) 2","gene_type":"Non-coding RNA","association":"Candidate gene tested in","status":"Not yet assessed","source":"16950817[PMID]","hgnc":"7498","ensembl":"ENSG00000210184","omim":"590085","loci":["mitochondria"]},{"symbol":"MT-CO1","name":"mitochondrially encoded cytochrome c oxidase I","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22832341[PMID]_19568996[PMID]","hgnc":"7419","ensembl":"ENSG00000198804","omim":"516030","loci":["mitochondria"]},{"symbol":"MT-CO2","name":"mitochondrially encoded cytochrome c oxidase II","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18245391[PMID]","hgnc":"7421","ensembl":"ENSG00000198712","omim":"516040","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":"15657614[PMID]","hgnc":"7455","ensembl":"ENSG00000198888","omim":"516000","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":null,"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":"18587274[PMID]_20301411[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":"11781695[PMID]","hgnc":"7462","ensembl":"ENSG00000198695","omim":"516006","loci":["mitochondria"]},{"symbol":"MT-TF","name":"mitochondrially encoded tRNA-Phe (UUU/C)","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9771776[PMID]","hgnc":"7481","ensembl":"ENSG00000210049","omim":"590070","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":"20301411[PMID]","hgnc":"7490","ensembl":"ENSG00000209082","omim":"590050","loci":["mitochondria"]},{"symbol":"MT-TS1","name":"mitochondrially encoded tRNA-Ser (UCN) 1","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17894844[PMID]","hgnc":"7497","ensembl":"ENSG00000210151","omim":"590080","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":"23696415[PMID]","hgnc":"7501","ensembl":"ENSG00000210117","omim":"590095","loci":["mitochondria"]}],"genes_via_subtypes":[],"inheritance":["Mitochondrial inheritance","Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.18,"area":"Japan","status":"Validated","source":"21443929[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.63,"area":"Finland","status":"Validated","source":"9371917[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":236.0,"area":"Specific population","status":"Validated","source":"17300999[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Europe","status":"Validated","source":"European Medicines Agency 2015[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-28","source":"20301411[PMID]_29289801[PMID]_30500480[PMID]","terms":[{"hpo":"HP:0008316","label":"Abnormal mitochondria in muscle tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012429","label":"Aplasia/Hypoplasia of the cerebral white matter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003200","label":"Ragged-red muscle fibers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002401","label":"Stroke-like episode","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012766","label":"Widened cerebral subarachnoid space","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002135","label":"Basal ganglia calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007159","label":"Fluctuations in consciousness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010794","label":"Impaired visuospatial constructive cognition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002490","label":"Increased CSF lactate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002331","label":"Recurrent paroxysmal headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011442","label":"Abnormality of central motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007302","label":"Bipolar affective disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031546","label":"Cardiac conduction abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005157","label":"Concentric hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007067","label":"Distal peripheral sensory neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012707","label":"Elevated brain lactate level by MRS","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000097","label":"Focal segmental glomerulosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002579","label":"Gastrointestinal dysmotility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004389","label":"Intestinal pseudo-obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007327","label":"Mixed demyelinating and axonal polyneuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000751","label":"Personality changes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000590","label":"Progressive external ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000114","label":"Proximal tubulopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001345","label":"Psychotic mentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100027","label":"Recurrent pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004372","label":"Reduced consciousness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025268","label":"Stuttering","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001716","label":"Wolff-Parkinson-White syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000829","label":"Hypoparathyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null}]}}