{"orpha":551,"name":"MERRF","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Fukuhara syndrome","Myoclonus epilepsy associated with ragged-red fibres"],"definition":"A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-551/","orphanet_url":"https://www.orpha.net/en/disease/detail/551","names":{"fr":{"name":"MERRF","synonyms":["Epilepsie myoclonique avec \"ragged-red-fibers\"","Epilepsie myoclonique à fibres rouges en lambeaux","Syndrome de Fukuhara"],"definition":"Anomalie rare de la phosphorylation oxydative mitochondriale caractérisée par des crises myocloniques, une ataxie, une épilepsie généralisée, une faiblesse musculaire et des fibres rouges déchiquetées à la biopsie musculaire."},"de":{"name":"MERRF","synonyms":["Fukuhara-Syndrom","MERRF-Syndrom","Myoklonusepilepsie mit 'ragged-red-fibers'"],"definition":"Eine seltene mitochondriale Störung der oxidativen Phosphorylierung, die durch myoklone Anfälle, Ataxie, generalisierte Epilepsie, Muskelschwäche und gezackte rote Fasern in der Muskelbiopsie gekennzeichnet ist."},"es":{"name":"MERRF","synonyms":["Epilepsia mioclónica asociada con fibras rojas rasgadas","Síndrome de Fukuhara"],"definition":"Es un trastorno poco frecuente de la fosforilación oxidativa mitocondrial caracterizado por crisis mioclónicas, ataxia, epilepsia generalizada, debilidad muscular y fibras rojas rasgadas en la biopsia muscular."},"it":{"name":"MERRF","synonyms":["Epilessia mioclonica con fibre rosse sfilacciate","Sindrome di Fukuhara"]},"nl":{"name":"MERRF","synonyms":["Myoclonische epilepsie met rafelige rode vezels","Myoclonusepilepsie met ragged red fibers","Syndroom van Fukuhara"],"definition":"Een zeldzame stoornis van mitochondriale oxidatieve fosforylatie, gekenmerkt door myoclonische insulten, ataxie, gegeneraliseerde epilepsie, spierzwakte, en gerafelde rode vezels in spierbiopt."},"pt":{"name":"MERRF","synonyms":["Epilépsia mioclónica associada a fibras vermelhas","Síndrome Fukuhara"],"definition":"Distúrbio raro da fosforilação oxidativa mitocondrial caracterizado por convulsões mioclónicas, ataxia, epilepsia generalizada, fraqueza muscular e fibras </i>ragged red</i> na biópsia muscular."},"pl":{"name":"MERRF","synonyms":["Padaczka miokloniczna z nieprawidłowymi czerwonymi włóknami mięśniowymi","Zespół Fukuhara"],"definition":"Rzadkie zaburzenie mitochondrialnej fosforylacji oksydacyjnej charakteryzujące się napadami mioklonicznymi, ataksją, uogólnioną padaczką, osłabieniem mięśni i obecnością postrzępionych czerwonych włókien w biopsji mięśnia."},"cs":{"name":"MERRF","synonyms":["Fukuharův syndrom","Myoklonická epilepsie s potrhanými červenými vlákny"]},"uk":{"name":"MERRF","synonyms":["Синдром Фукухари","Міоклонусна епілепсія, повязана з рваними червоними волокнами"],"definition":"A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy."},"zh":{"name":"肌阵挛性癫痫伴破碎红纤维综合征","synonyms":["肌阵挛性癫痫伴碎红纤维"]},"tr":{"name":"MERRF","synonyms":["Fukuhara sendromu","Düzensiz kırmızı liflerle ilişkili miyoklonus epilepsisi"]}},"xrefs":[{"source":"OMIM","code":"545000","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":"1630114989"},{"source":"MONDO","code":"0010790","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017243","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0162672","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7144","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069825","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":98261,"name":"Progressive myoclonic epilepsy","classifications":[156,181]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"MT-RNR1","name":"mitochondrially encoded 12S rRNA","gene_type":"Non-coding RNA","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"7470","ensembl":"ENSG00000211459","omim":"561000","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":"23179085[PMID]","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-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":null,"hgnc":"7461","ensembl":"ENSG00000198786","omim":"516005","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":"15184630[PMID]","hgnc":"7481","ensembl":"ENSG00000210049","omim":"590070","loci":["mitochondria"]},{"symbol":"MT-TH","name":"mitochondrially encoded tRNA-His (CAU/C)","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14967777[PMID]","hgnc":"7487","ensembl":"ENSG00000210176","omim":"590040","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":"20301693[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":"8254046[PMID]","hgnc":"7490","ensembl":"ENSG00000209082","omim":"590050","loci":["mitochondria"]},{"symbol":"MT-TP","name":"mitochondrially encoded tRNA-Pro (CCN)","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19273760[PMID]_27816331[PMID]","hgnc":"7494","ensembl":"ENSG00000210196","omim":"590075","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":"7669057[PMID]","hgnc":"7497","ensembl":"ENSG00000210151","omim":"590080","loci":["mitochondria"]}],"genes_via_subtypes":[],"inheritance":["Mitochondrial inheritance"],"onset":["Adult","Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.494,"area":"Sweden","status":"Validated","source":"11261513[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003200","label":"Ragged-red muscle fibers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001012","label":"Multiple lipomas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null}]}}