{"orpha":66634,"name":"Dilated cardiomyopathy with ataxia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["3-methylglutaconic aciduria type 5","DCMA syndrome","MGA5"],"definition":"Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-66634/","orphanet_url":"https://www.orpha.net/en/disease/detail/66634","names":{"fr":{"name":"Syndrome de cardiomyopathie dilatée-ataxie","synonyms":["Acidurie 3-méthylglutaconique type 5","MGA5","Syndrome DCMA"],"definition":"La cardiomyopathie dilatée avec ataxie (CMDA ou <i>DMCA</i> en anglais) est caractérisée par une cardiomyopathie dilatée sévère de révélation précoce (avant l'âge de trois ans) avec anomalies de la conduction (syndrome du QT long), une ataxie cérébelleuse non progressive, une dysgénésie testiculaire, et une acidurie 3-méthylglutaconique."},"de":{"name":"Dilatative Kardiomyopathie mit Ataxie","synonyms":["3-Methylglutaconazidurie Typ 5","DCMA-Syndrom","MGA5"],"definition":"Als Syndrom der Dilatativen Kardiomyopathie mit Ataxie (DCMA) wird ein Krankheitsbild mit schwerer, früh (vor dem 3. Geburtstag) auftretender dilatativer Kardiomyopathie (DCM) mit Reizleitungsstörungen (QT-Zeit-Verlängerung, 'long QT'-Syndrom), stationärer zerebellärer Ataxie, Hodendysgenesie und und vermehrter Ausscheidung von 3-Methyl-Glutaconsäure im Urin (3-Methyl-Glutaconazidurie Typ V) bezeichnet."},"es":{"name":"Miocardiopatía dilatada con ataxia","synonyms":["Aciduria 3-metilglutacónica tipo 5","Cardiomiopatía dilatada con ataxia","MGA5","Síndrome DCMA"],"definition":"La miocardiopatía dilatada con ataxia (DCMA) se caracteriza por una miocardiopatía dilatada (DCM) grave de aparición temprana (antes de los tres años de edad), con trastornos de la conducción (síndrome de QT largo), ataxia cerebelosa no progresiva, disgenesia testicular y aciduria 3-metilglutacónica."},"it":{"name":"Cardiomiopatia dilatativa con atassia","synonyms":["Aciduria 3-metilglutaconica, tipo 5","MGA5","Sindrome DMCA"]},"nl":{"name":"Gedilateerde cardiomyopathie met ataxie","synonyms":["3-methylglutaconacidurie type 5","DCMA-syndroom","MGA5"],"definition":"Gedilateerde cardiomyopathie met ataxie (DCMA) wordt gekenmerkt door ernstige, vroeg optredende (voor de leeftijd van drie jaar) gedilateerde cardiomyopathie (DCM) met geleidingsstoornissen (lang-QT-syndroom), niet-progressieve cerebellaire ataxie, testiculaire dysgenesie, en 3-methylglutaconacidurie."},"pt":{"name":"Miocardiopatia dilatada com ataxia","synonyms":["Síndrome DMCA"]},"pl":{"name":"Kardiomiopatia rozstrzeniowa z ataksją","synonyms":["Acyduria 3-metyloglutakonowa typu 5","MGA5","Zespół DCMA"]},"cs":{"name":"Dilatační kardiomyopatie s ataxií","synonyms":["3-methylglutakonová acidurie typu V","DCMA syndrom","MGA5"]},"uk":{"name":"Дилатаційна кардіоміопатія з атаксією","synonyms":["3-метилглутаконова ацидурія типу 5","Синдром DCMA","MGA5"],"definition":"Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria."},"zh":{"name":"扩张性心肌病伴共济失调","synonyms":["3-甲基戊二酸尿症5型"]},"tr":{"name":"Ataksi ile seyreden dilate kardiyomiyopati","synonyms":["MGA5","DCMA sendromu","3-metilglutakonik asidüri tip 5"]}},"xrefs":[{"source":"OMIM","code":"610198","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"422277813"},{"source":"MONDO","code":"0012435","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565706","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857776","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12964","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":289902,"name":"3-methylglutaconic aciduria","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":217619,"name":"Syndrome associated with dilated cardiomyopathy","classifications":[146,156,233]}],"children":[],"genes":[{"symbol":"DNAJC19","name":"DnaJ heat shock protein family (Hsp40) member C19","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16055927[PMID]","hgnc":"30528","ensembl":"ENSG00000205981","omim":"608977","loci":["3q26.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-14","source":"16055927[PMID]_25691889[PMID]_27928778[PMID]_22797137[PMID]","terms":[{"hpo":"HP:0003535","label":"3-Methylglutaconic aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003530","label":"Glutaric acidemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004840","label":"Hypochromic microcytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004856","label":"Normochromic microcytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001657","label":"Prolonged QT interval","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008689","label":"Bilateral cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001414","label":"Microvesicular hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011623","label":"Muscular ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001998","label":"Neonatal hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000051","label":"Perineal hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002345","label":"Action tremor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100702","label":"Arachnoid cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007366","label":"Atrophy/Degeneration affecting the brainstem","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007146","label":"Bilateral basal ganglia lesions","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009110","label":"Diaphragmatic eventration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003700","label":"Generalized amyotrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008762","label":"Repetitive compulsive behavior","frequency":"Very rare (<4-1%)","criteria":null}]}}