{"orpha":111,"name":"Barth syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["3-methylglutaconic aciduria type 2","BTHS","Cardioskeletal myopathy with neutropenia and abnormal mitochondria","Cardioskeletal myopathy-neutropenia syndrome","MGA2","X-linked cardioskeletal myopathy and neutropenia"],"definition":"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-111/","orphanet_url":"https://www.orpha.net/en/disease/detail/111","names":{"fr":{"name":"Syndrome de Barth","synonyms":["Acidurie 3-méthylglutaconique type 2","BTHS","MGA2","Myopathie cardioquelettique et neutropénie liée à l'X","Syndrome de myopathie cardiosquelettique-neutropénie"],"definition":"Le syndrome de Barth est une erreur innée du métabolisme des phospholipides caractérisée par une cardiomyopathie dilatée (CMD), avec myopathie squelettique, neutropénie, retard de croissance et acidurie organique."},"de":{"name":"Barth-Syndrom","synonyms":["3-Methylglutaconazidurie Typ 2","BTHS","Kardioskelettale Myopathie - Neutropenie, X-chromosomal","Kardioskelettale Myopathie-Neutropenie-Syndrom","MGA2","X-chromosomale kardioskelettale Myopathie und Neutropenie"],"definition":"Das Barth-Syndrom (BTHS) ist ein angeborener Defekt des Phospholipid-Stoffwechsels und gekennzeichnet durch dilatative Kardiomyopathie (DCM), Myopathie der Skelettmuskulatur, Neutropenie, verzögertes Wachstum und Organoazidurie."},"es":{"name":"Síndrome de Barth","synonyms":["Aciduria 3-metilglutacónica tipo 2","BTHS","MGA2","Miopatía cardioesquelética con neutropenia y mitocondria anómala","Miopatía cardioesquelética ligada al cromosoma X y neutropenia","Síndrome de miopatía cardioesquelética-neutropenia"],"definition":"El síndrome de Barth (BTHS) es un error congénito del metabolismo de los fosfolípidos caracterizado por: miocardiopatía dilatada (CMD), miopatía esquelética, neutropenia, retraso en el crecimiento y aciduria orgánica."},"it":{"name":"Sindrome di Barth","synonyms":["Aciduria 3-metilglutaconica, tipo 2","BTHS","MGA2","Miopatia cardioscheletrica con neutropenia e difetti mitocondriali","Miopatia cardioscheletrica e neutropenia, legata all'X","Sindrome miopatia cardioscheletrica-neutropenia"],"definition":"La sindrome di Barth (BTHS) è un difetto congenito del metabolismo dei fosfolipidi con cardiomiopatia dilatativa (DCM), miopatia scheletrica, neutropenia, ritardo della crescita e aciduria organica."},"nl":{"name":"Syndroom van Barth","synonyms":["3-methylglutaconacidurie type 2","BTHS","Cardioskeletale myopathie - neutropenie-syndroom","Cardioskeletale myopathie met neutropenie en abnormale mitochondriën","MGA2","X-gebonden cardioskeletale myopathie en neutropenie"],"definition":"Syndroom van Barth (BTHS) is een aangeboren afwijking van het fosfolipidenmetabolisme gekenmerkt door gedilateerde cardiomyopathie (DCM), skeletale myopathie, neutropenie, groeivertraging en organische acidurie."},"pt":{"name":"Síndrome Barth","synonyms":["AGM2","Acidúria 3-metilglutacónica tipo 2","BTHS","Miopatia cardio-esquelética-neutropenia"],"definition":"A síndrome de Barth (BTHS) é uma doença congénita do metabolismo dos fosfolípidos caracterizada por miocardiopatia dilatada (DCM), miopatia esquelética, neutropenia, atraso do crescimento e acidúria orgânica."},"pl":{"name":"Zespół Bartha","synonyms":["Acyduria 3-metyloglutakonowa typu 2","BTHS","MGA2","Miopatia sercowo-szkieletowa - neutropenia","Miopatia sercowo-szkieletowa sprzężona z chromosomem X z neutropenią","Miopatia sercowo-szkieletowa z neutropenią i nieprawidłowe mitochondria"]},"cs":{"name":"Barthův syndrom","synonyms":["3-methylglutakonová acidurie, typ 2","BTHS","Kardioskeletální myopatie s neutropenií a abnormálními mitochondriemi","Syndrom zahrnující kardioskeletální myopatii a neutropenii","MGA2","X-vázaná kardioskeletální myopatie a neutropenie"]},"uk":{"name":"Синдром Барта","synonyms":["3-метилглутаконова ацидурія типу 2","BTHS","Серцево-судинна міопатія з нейтропенією та аномальними мітохондріями","Синдром кардіоскелетної міопатії-нейтропенії","MGA2","Х-зчеплена серцево-скелетна міопатія та нейтропенія"],"definition":"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria."},"zh":{"name":"Barth综合征","synonyms":["心脏骨骼肌肌病伴中性粒细胞减少和异常线粒体"]},"tr":{"name":"Barth sendromu","synonyms":["BTHS","MGA2","3-metilglutakonik asidüri tip 2","Kardiyoskeletal miyopati-nötropeni sendromu","X'e bağlı kardiyoskeletal miyopati ve nötropeni","Nötropeni ve anormal mitokondri ile seyreden kardiyoskeletal miyopati"]}},"xrefs":[{"source":"OMIM","code":"302060","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":"452199926"},{"source":"MONDO","code":"0010543","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D056889","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0574083","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5890","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078537","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":352312,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement","classifications":[150,156]},{"orpha":217613,"name":"Mitochondrial disease with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":206966,"name":"Mitochondrial myopathy","classifications":[156,181]},{"orpha":331184,"name":"Syndrome with congenital neutropenia as a major feature","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"TAFAZZIN","name":"tafazzin, phospholipid-lysophospholipid transacylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23843353[PMID]","hgnc":"11577","ensembl":"ENSG00000102125","omim":"300394","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.22,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.29,"area":"United States","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"France","status":"Validated","source":"23656970[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.71,"area":"United Kingdom","status":"Validated","source":"23398819[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-12-19","source":"25299040[PMID]_34197965[PMID]_39404727[PMID]_40282425[PMID]","terms":[{"hpo":"HP:0003535","label":"3-Methylglutaconic aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003756","label":"Skeletal myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003344","label":"3-Methylglutaric aciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031085","label":"Decreased circulating prealbumin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000517","label":"Elevated monolysocardiolipin/cardiolipin ratio","frequency":"Frequent (79-30%)","criteria":"Pathognomonic sign"},{"hpo":"HP:0001706","label":"Endocardial fibroelastosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003146","label":"Hypocholesterolemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012311","label":"Increased total monocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000155","label":"Oral ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005184","label":"Prolonged QTc interval","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033454","label":"Tube feeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012532","label":"Chronic pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004914","label":"Recurrent infantile hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001699","label":"Sudden death","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null}]}}