{"orpha":1369,"name":"Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Sengers syndrome"],"definition":"Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1369/","orphanet_url":"https://www.orpha.net/en/disease/detail/1369","names":{"fr":{"name":"Syndrome de cataracte congénitale-cardiomyopathie hypertrophique-myopathie mitochondriale","synonyms":["Syndrome de Sengers"],"definition":"Le syndrome de cataracte congénitale-cardiomyopathie hypertrophique-myopathie mitochondriale (CCM) est une maladie mitochondriale caractérisée par des cataractes, une cardiomyopathie hypertrophique, une faiblesse musculaire et de l'acidose lactique après l'exercice physique."},"de":{"name":"Kongenitale Katarakt-hypertrophe Kardiomyopathie-mitochondriale Myopathie-Syndrom","synonyms":["Sengers-Syndrom"]},"es":{"name":"Síndrome de catarata congénita-miocardiopatía hipertrófica-miopatía mitocondrial","definition":"El síndrome de catarata congénita - miocardiopatía hipertrófica - miopatía mitocondrial (MCC) es una enfermedad mitocondrial (ver este término) caracterizada por cataratas, miocardiopatía hipertrófica, debilidad muscular y acidosis láctica después del ejercicio."},"it":{"name":"Cataratta congenita - cardiomiopatia ipertrofica - miopatia mitocondriale","synonyms":["Sindrome di Sengers"]},"nl":{"name":"Congenitaal cataract - hypertrofische cardiomyopathie - mitochondriale myopathie-syndroom","synonyms":["Syndroom van Sengers"],"definition":"Aangeboren cataract - hypertrofische cardiomyopathie - mitochondriale myopathie (CCM) is een mitochondriale ziekte (zie deze term) en wordt gekenmerkt door cataract, hypertrofische cardiomyopathie, spierzwakte en lactaatacidose na inspanning."},"pt":{"name":"Catarata-miocardiopatia","synonyms":["Síndrome Sengers"]},"pl":{"name":"Zaćma wrodzona - kardiomiopatia przerostowa - miopatia mitochondrialna","synonyms":["Zespół Sengersa"]},"cs":{"name":"Syndrom zahrnující vrozenou kataraktu, hypertrofickou kardiomyopatii a mitochondriální myopatii","synonyms":["Sengersův syndrom"]},"uk":{"name":"Синдром вродженої катаракти-гіпертрофічної кардіоміопатії-мітохондріальної міопатії","synonyms":["Синдром Сенгерса"],"definition":"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise."},"zh":{"name":"先天性白内障-肥厚型心肌病-线粒体性肌病综合征","synonyms":["Sengers综合征"]},"tr":{"name":"Doğumsal katarakt-hipertrofik kardiyomiyopati-mitokondriyal miyopati sendromu","synonyms":["Sengers sendromu"]}},"xrefs":[{"source":"OMIM","code":"212350","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"615418","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618805","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"22670425"},{"source":"MONDO","code":"0008922","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538280","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859317","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1142","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":352312,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement","classifications":[150,156]},{"orpha":217587,"name":"Mitochondrial disease with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":254830,"name":"Mitochondrial substrate carrier disorder","classifications":[150,156]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"AGK","name":"acylglycerol kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22284826[PMID]","hgnc":"21869","ensembl":"ENSG00000006530","omim":"610345","loci":["7q34"]},{"symbol":"SLC25A4","name":"solute carrier family 25 member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22187496[PMID]","hgnc":"10990","ensembl":"ENSG00000151729","omim":"103220","loci":["4q35.1"]},{"symbol":"TKFC","name":"triokinase and FMN cyclase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32004446[PMID]","hgnc":"24552","ensembl":"ENSG00000149476","omim":"615844","loci":["11q12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"22284826[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:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null}]}}