{"orpha":91130,"name":"Cardiomyopathy-hypotonia-lactic acidosis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the <i>SLC25A3</i> gene encoding a mitochondrial membrane transporter.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91130/","orphanet_url":"https://www.orpha.net/en/disease/detail/91130","names":{"fr":{"name":"Syndrome de cardiomyopathie-hypotonie-acidose lactique","definition":"Le syndrome de cardiomyopathie-hypotonie-acidose lactique se caractérise par une acidose lactique présente dès la naissance, une cardiomyopathie hypertrophique et une hypotonie musculaire. Il a été décrit chez deux soeurs d'une famille turque non consanguine, décédées avant l'âge de 1 an. Une mutation ponctuelle homozygote dans l'exon 3A du gène <i>SLC25A3</i>, codant un transporteur de la membrane mitochondriale serait à l'origine de ce syndrome."},"de":{"name":"Kardiomyopathie-Muskelhypotonie-Laktatazidose-Syndrom","synonyms":["Phosphat-Transporter-Defekt, mitochondrialer"],"definition":"Dieses Syndrom ist gekennzeichnet durch hypertrophische Kardiomyopathie, Muskelhypotonie und Laktatazidose bei Geburt."},"es":{"name":"Síndrome de miocardiopatía-hipotonía-acidosis láctica","definition":"Es un síndrome caracterizado por miocardiopatía hipertrófica, hipotonía muscular y presencia de acidosis láctica al nacimiento. Se ha descrito en dos hermanas (ambas fallecieron en el primer año de vida) de una familia turca no consanguínea. El síndrome está causado por una mutación puntual homocigota en el exón 3A del gen <i>SLC25A3</i> que codifica para un transportador de la membrana mitocondrial."},"it":{"name":"Cardiomiopatia - ipotonia - acidosi lattica"},"nl":{"name":"Cardiomyopathie - hypotonie - lactaatacidose-syndroom","definition":"Een syndroom, gekenmerkt door hypertrofische cardiomyopathie, spierhypotonie, en aanwezigheid van lactaatacidose bij de geboorte. Het werd beschreven bij twee zussen (die beide stierven in hun eerste levensjaar) uit een niet-bloedverwante Turkse familie. Het syndroom wordt veroorzaakt door een homozygote puntmutatie in exon 3A van het gen <i>SLC25A3</i>, dat codeert voor een mitochondriaal membraantransporteiwit."},"pt":{"name":"Miocardiopatia - hipotonia - acidose láctica"},"pl":{"name":"Kardiomiopatia - hipotonia - kwasica mleczanowa"},"cs":{"name":"Syndrom zahrnující kardiomyopatii, hypotonii a laktátovou acidózu"},"uk":{"name":"Синдром кардіоміопатії-гіпотонії-лактоацидозу","definition":"Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the <i>SLC25A3</i> gene encoding a mitochondrial membrane transporter."},"zh":{"name":"心肌病-肌张力低下-乳酸性酸中毒综合征"},"tr":{"name":"Kardiyomiyopati-hipotoni-laktik asidoz sendromu"}},"xrefs":[{"source":"OMIM","code":"610773","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I42.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.30","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1188780559"},{"source":"MONDO","code":"0012557","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305259","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254830,"name":"Mitochondrial substrate carrier disorder","classifications":[150,156]},{"orpha":217595,"name":"Syndrome associated with hypertrophic cardiomyopathy","classifications":[146,156,233]}],"children":[],"genes":[{"symbol":"SLC25A3","name":"solute carrier family 25 member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17273968[PMID]","hgnc":"10989","ensembl":"ENSG00000075415","omim":"600370","loci":["12q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"17273968[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17273968[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-11","source":"17273968[PMID]","terms":[{"hpo":"HP:0012103","label":"Abnormality of the mitochondrion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","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:0001942","label":"Metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009805","label":"Low-output congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null}]}}