{"orpha":2598,"name":"Mitochondrial myopathy and sideroblastic anemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MLASA","Myopathy, lactic acidosis and sideroblastic anemia"],"definition":"Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2598/","orphanet_url":"https://www.orpha.net/en/disease/detail/2598","names":{"fr":{"name":"Myopathie mitochondriale et anémie sidéroblastique","synonyms":["MLASA","Myopathie, acidose lactique et anémie sidéroblastique"],"definition":"La myopathie mitochondriale et anémie sidéroblastique fait partie du groupe des myopathies métaboliques et se caractérise par une intolérance progressive à l'exercice se révélant durant l'enfance, une anémie sidéroblastique d'apparition vers l'adolescence, une acidose lactique et une myopathie mitochondriale."},"de":{"name":"Mitochondriale Myopathie und sideroblastische Anämie","synonyms":["MLASA","Myopathie mit Laktatazidose und sideroblastische Anämie"],"definition":"Die Myopathie mit Laktatazidose und sideroblastischer Anämie gehört zur heterogenen Gruppe der metabolischen Myopathien. Sie ist charakterisiert durch progrediente, in der Kindheit einsetzende Bewegungs-Intoleranz, durch eine in der Adoleszenz beginnende sideroblastische Anämie, durch Laktatazidose und mitochondriale Myopathie."},"es":{"name":"Miopatía mitocondrial y anemia sideroblástica","synonyms":["MLASA","Miopatía, acidosis láctica y anemia sideroblástica"],"definition":"La miopatía con acidosis láctica y anemia sideroblástica pertenece a la familia heterogénea de las miopatías metabólicas. Se caracteriza por una intolerancia progresiva al ejercicio que se manifiesta durante la infancia y por la aparición de una anemia sideroblástica en la adolescencia, así como acidemia láctica y miopatía mitocondrial."},"it":{"name":"Miopatia mitocondriale - anemia sideroblastica","synonyms":["MLASA","MSA","Miopatia - acidosi lattica - anemia sideroblastica"]},"nl":{"name":"Mitochondriale myopathie en sideroblastische anemie","synonyms":["MLASA","Mitochondriale myopathie en sideroblastaire anemie","Myopathie, lactaatacidose en sideroblastische anemie","Myopathie, melkzuuracidose en sideroblastische anemie"],"definition":"Mitochondriale myopathie en sideroblastische anemie behoort tot de heterogene familie van metabole myopathieën. Het wordt gekenmerkt door progressieve inspanningsintolerantie die zich manifesteert in de kindertijd, aanvang van sideroblastische anemie rond de adolescentie, lactaatacidemie, en mitochondriale myopathie."},"pt":{"name":"Miopatia mitocondrial e anemia sideroblástica"},"pl":{"name":"Miopatia mitochondrialna i anemia syderoblastyczna","synonyms":["Miopatia, kwasica mleczanowa i niedokrwistość syderoblastyczna","MLASA","MSA"]},"cs":{"name":"Mitochondriální myopatie a sideroblastická anémie","synonyms":["MLASA","MSA","Myopatie, laktátová acidóza a sideroblastická anémie"]},"uk":{"name":"Мітохондріальна міопатія та сидеробластна анемія","synonyms":["MLASA","Міопатія, молочнокислий ацидоз та сидеробластна анемія"],"definition":"Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy."},"zh":{"name":"线粒体肌病伴铁粒幼细胞性贫血","synonyms":["肌病，乳酸酸中毒与铁粒幼细胞性贫血"]},"tr":{"name":"Mitokondriyal miyopati ve sideroblastik anemi","synonyms":["MLASA","Miyopati, laktik asidoz ve sideroblastik anemi"]}},"xrefs":[{"source":"OMIM","code":"500011","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600462","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"613561","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A72.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"678852156"},{"source":"MONDO","code":"0000863","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536101","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838103","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3885","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":98362,"name":"Constitutional sideroblastic anemia","classifications":[156,194]},{"orpha":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","classifications":[150,156]},{"orpha":206966,"name":"Mitochondrial myopathy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PUS1","name":"pseudouridine synthase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21686963[PMID]","hgnc":"15508","ensembl":"ENSG00000177192","omim":"608109","loci":["12q24.33"]},{"symbol":"YARS2","name":"tyrosyl-tRNA synthetase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20598274[PMID]_22504945[PMID]_24344687[PMID]_24430573[PMID]","hgnc":"24249","ensembl":"ENSG00000139131","omim":"610957","loci":["12p11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"15971356[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009743","label":"Distichiasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009055","label":"Generalized limb muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003737","label":"Mitochondrial myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null}]}}