1 / 1 DeCS    
Descriptor English:   Barth Syndrome 
Descriptor Spanish:   Síndrome de Barth 
Descriptor Portuguese:   Síndrome de Barth 
Synonyms English:   3 Methylglutaconic Aciduria, Type II
3 Methylglutaconicaciduria Type 2
3-Methylglutaconic Aciduria, Type II
3-Methylglutaconicaciduria Type 2
3-Methylglutaconicaciduria Type 2s
3-Methylglutaconicaciduria Type II
3-Methylglutaconicaciduria Type IIs
Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria
MGA Type 2
MGA Type 2s
MGA Type IIs
Syndrome, Barth
Type 2, 3-Methylglutaconicaciduria
Type 2, MGA
Type 2s, MGA
Type II, MGA
Type IIs, MGA  
Tree Number:   C14.240.400.172
Definition English:   Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist. 
See Related English:   Isolated Noncompaction of the Ventricular Myocardium
History Note English:   2010 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   53535 
Unique Identifier:   D056889 

      Cardiovascular Diseases [C14]
         Cardiovascular Abnormalities [C14.240]
            Heart Defects, Congenital [C14.240.400]
               22q11 Deletion Syndrome [C14.240.400.021] +
               Alagille Syndrome [C14.240.400.044]
               Aortic Coarctation [C14.240.400.090]
               Arrhythmogenic Right Ventricular Dysplasia [C14.240.400.145]
               Barth Syndrome [C14.240.400.172] 
               Cor Triatriatum [C14.240.400.200]
               Coronary Vessel Anomalies [C14.240.400.210] +
               Crisscross Heart [C14.240.400.220]
               Dextrocardia [C14.240.400.280] +
               Ductus Arteriosus, Patent [C14.240.400.340]
               Ebstein Anomaly [C14.240.400.395]
               Ectopia Cordis [C14.240.400.422]
               Eisenmenger Complex [C14.240.400.450]
               Heart Septal Defects [C14.240.400.560] +
               Heterotaxy Syndrome [C14.240.400.592]
               Hypoplastic Left Heart Syndrome [C14.240.400.625]
               Isolated Noncompaction of the Ventricular Myocardium [C14.240.400.660]
               LEOPARD Syndrome [C14.240.400.695]
               Levocardia [C14.240.400.701]
               Marfan Syndrome [C14.240.400.725]
               Noonan Syndrome [C14.240.400.787]
               Tetralogy of Fallot [C14.240.400.849]
               Transposition of Great Vessels [C14.240.400.915] +
               Tricuspid Atresia [C14.240.400.920]
               Trilogy of Fallot [C14.240.400.960]
               Trisomy 13 Syndrome [C14.240.400.970]
               Trisomy 18 Syndrome [C14.240.400.975]
               Turner Syndrome [C14.240.400.980]
               Univentricular Heart [C14.240.400.990]
            Vascular Malformations [C14.240.850] +

      Cardiovascular Diseases [C14]
         Heart Diseases [C14.280]
            Arrhythmias, Cardiac [C14.280.067] +
            Carcinoid Heart Disease [C14.280.104]
            Cardiac Conduction System Disease [C14.280.123] +
            Cardiac Output, High [C14.280.142]
            Cardiac Output, Low [C14.280.148]
            Cardiac Tamponade [C14.280.155]
            Cardiomegaly [C14.280.195] +
            Cardiomyopathies [C14.280.238] +
            Cardiotoxicity [C14.280.260]
            Endocarditis [C14.280.282] +
            Heart Aneurysm [C14.280.358]
            Heart Arrest [C14.280.383] +
            Heart Defects, Congenital [C14.280.400]
               22q11 Deletion Syndrome [C14.280.400.044] +
               Aortic Coarctation [C14.280.400.090]
               Arrhythmogenic Right Ventricular Dysplasia [C14.280.400.145]
               Barth Syndrome [C14.280.400.172] 
               Cor Triatriatum [C14.280.400.200]
               Coronary Vessel Anomalies [C14.280.400.210] +
               Crisscross Heart [C14.280.400.220]
               Dextrocardia [C14.280.400.280] +
               Ductus Arteriosus, Patent [C14.280.400.340]
               Ebstein Anomaly [C14.280.400.395]
               Eisenmenger Complex [C14.280.400.450]
               Heart Septal Defects [C14.280.400.560] +
               Heterotaxy Syndrome [C14.280.400.592]
               Hypoplastic Left Heart Syndrome [C14.280.400.625]
               Isolated Noncompaction of the Ventricular Myocardium [C14.280.400.660]
               LEOPARD Syndrome [C14.280.400.695]
               Levocardia [C14.280.400.701]
               Marfan Syndrome [C14.280.400.725]
               Noonan Syndrome [C14.280.400.787]
               Tetralogy of Fallot [C14.280.400.849]
               Transposition of Great Vessels [C14.280.400.915] +
               Tricuspid Atresia [C14.280.400.920]
               Trilogy of Fallot [C14.280.400.960]
               Trisomy 13 Syndrome [C14.280.400.970]
               Trisomy 18 Syndrome [C14.280.400.975]
               Turner Syndrome [C14.280.400.980]
               Univentricular Heart [C14.280.400.990]
            Heart Failure [C14.280.434] +
            Heart Neoplasms [C14.280.459] +
            Heart Rupture [C14.280.470] +
            Heart Valve Diseases [C14.280.484] +
            Myocardial Ischemia [C14.280.647] +
            Myocardial Stunning [C14.280.671]
            Pericardial Effusion [C14.280.695]
            Pericarditis [C14.280.720] +
            Pneumopericardium [C14.280.763]
            Post-Cardiac Arrest Syndrome [C14.280.778]
            Postpericardiotomy Syndrome [C14.280.793]
            Pulmonary Heart Disease [C14.280.832]
            Rheumatic Heart Disease [C14.280.874]
            Ventricular Dysfunction [C14.280.945] +
            Ventricular Outflow Obstruction [C14.280.955] +

      Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
         Congenital Abnormalities [C16.131]
            Abnormalities, Drug-Induced [C16.131.042]
            Abnormalities, Multiple [C16.131.077]
               22q11 Deletion Syndrome [C16.131.077.019] +
               Alagille Syndrome [C16.131.077.065]
               Angelman Syndrome [C16.131.077.095]
               Barth Syndrome [C16.131.077.121] 
               Basal Cell Nevus Syndrome [C16.131.077.130]
               Beckwith-Wiedemann Syndrome [C16.131.077.133]
               Bloom Syndrome [C16.131.077.137]
               Branchio-Oto-Renal Syndrome [C16.131.077.208]
               Carney Complex [C16.131.077.229]
               CHARGE Syndrome [C16.131.077.239]
               Ciliopathies [C16.131.077.245] +
               Cockayne Syndrome [C16.131.077.250]
               Costello Syndrome [C16.131.077.256]
               Cri-du-Chat Syndrome [C16.131.077.262]
               De Lange Syndrome [C16.131.077.272]
               Deaf-Blind Disorders [C16.131.077.299] +
               Donohue Syndrome [C16.131.077.313]
               Down Syndrome [C16.131.077.327]
               Ectodermal Dysplasia [C16.131.077.350] +
               Fraser Syndrome [C16.131.077.371]
               Gardner Syndrome [C16.131.077.393]
               Heterotaxy Syndrome [C16.131.077.401]
               Holoprosencephaly [C16.131.077.410]
               Incontinentia Pigmenti [C16.131.077.445]
               Isolated Noncompaction of the Ventricular Myocardium [C16.131.077.477]
               Laurence-Moon Syndrome [C16.131.077.509]
               LEOPARD Syndrome [C16.131.077.525]
               Loeys-Dietz Syndrome [C16.131.077.537]
               Marfan Syndrome [C16.131.077.550]
               Mobius Syndrome [C16.131.077.578]
               Monilethrix [C16.131.077.592]
               Nail-Patella Syndrome [C16.131.077.606]
               Netherton Syndrome [C16.131.077.619]
               Nevus, Sebaceous of Jadassohn [C16.131.077.633]
               Oculocerebrorenal Syndrome [C16.131.077.662]
               Orofaciodigital Syndromes [C16.131.077.676]
               Pallister-Hall Syndrome [C16.131.077.690]
               Pentalogy of Cantrell [C16.131.077.696]
               POEMS Syndrome [C16.131.077.703]
               Polycystic Kidney Diseases [C16.131.077.717] +
               Prader-Willi Syndrome [C16.131.077.730]
               Prolidase Deficiency [C16.131.077.735]
               Proteus Syndrome [C16.131.077.740]
               Prune Belly Syndrome [C16.131.077.745]
               Rubella Syndrome, Congenital [C16.131.077.790]
               Rubinstein-Taybi Syndrome [C16.131.077.804]
               Short Rib-Polydactyly Syndrome [C16.131.077.850]
               Silver-Russell Syndrome [C16.131.077.855]
               Smith-Lemli-Opitz Syndrome [C16.131.077.860]
               Smith-Magenis Syndrome [C16.131.077.879]
               Sotos Syndrome [C16.131.077.889]
               Trichothiodystrophy Syndromes [C16.131.077.899]
               Trisomy 13 Syndrome [C16.131.077.919]
               Trisomy 18 Syndrome [C16.131.077.929]
               Waardenburg Syndrome [C16.131.077.938]
               Weill-Marchesani Syndrome [C16.131.077.941]
               Wolf-Hirschhorn Syndrome [C16.131.077.944]
               Zellweger Syndrome [C16.131.077.970]
            Abnormalities, Radiation-Induced [C16.131.080]
            Abnormalities, Severe Teratoid [C16.131.085] +
            Aicardi Syndrome [C16.131.162]
            Cardiovascular Abnormalities [C16.131.240] +
            Chromosome Disorders [C16.131.260] +
            Congenital Microtia [C16.131.287]
            Digestive System Abnormalities [C16.131.314] +
            Eye Abnormalities [C16.131.384] +
            Hernias, Diaphragmatic, Congenital [C16.131.433]
            Lymphatic Abnormalities [C16.131.482] +
            Musculoskeletal Abnormalities [C16.131.621] +
            Nervous System Malformations [C16.131.666] +
            Respiratory System Abnormalities [C16.131.740] +
            Situs Inversus [C16.131.810] +
            Skin Abnormalities [C16.131.831] +
            Stomatognathic System Abnormalities [C16.131.850] +
            Thyroid Dysgenesis [C16.131.894] +
            Urogenital Abnormalities [C16.131.939] +

      Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
         Congenital Abnormalities [C16.131]
            Cardiovascular Abnormalities [C16.131.240]
               Heart Defects, Congenital [C16.131.240.400]
                  22q11 Deletion Syndrome [C16.131.240.400.021] +
                  Alagille Syndrome [C16.131.240.400.044]
                  Aortic Coarctation [C16.131.240.400.090]
                  Arrhythmogenic Right Ventricular Dysplasia [C16.131.240.400.145]
                  Barth Syndrome [C16.131.240.400.172] 
                  Cor Triatriatum [C16.131.240.400.200]
                  Coronary Vessel Anomalies [C16.131.240.400.210] +
                  Crisscross Heart [C16.131.240.400.220]
                  Dextrocardia [C16.131.240.400.280] +
                  Ductus Arteriosus, Patent [C16.131.240.400.340]
                  Ebstein Anomaly [C16.131.240.400.395]
                  Ectopia Cordis [C16.131.240.400.422]
                  Eisenmenger Complex [C16.131.240.400.450]
                  Heart Septal Defects [C16.131.240.400.560] +
                  Heterotaxy Syndrome [C16.131.240.400.592]
                  Hypoplastic Left Heart Syndrome [C16.131.240.400.625]
                  Isolated Noncompaction of the Ventricular Myocardium [C16.131.240.400.655]
                  LEOPARD Syndrome [C16.131.240.400.685]
                  Levocardia [C16.131.240.400.701]
                  Long QT Syndrome [C16.131.240.400.715] +
                  Marfan Syndrome [C16.131.240.400.720]
                  Noonan Syndrome [C16.131.240.400.784]
                  Tetralogy of Fallot [C16.131.240.400.849]
                  Transposition of Great Vessels [C16.131.240.400.915] +
                  Tricuspid Atresia [C16.131.240.400.920]
                  Trilogy of Fallot [C16.131.240.400.960]
                  Trisomy 13 Syndrome [C16.131.240.400.965]
                  Trisomy 18 Syndrome [C16.131.240.400.968]
                  Turner Syndrome [C16.131.240.400.970]
                  Univentricular Heart [C16.131.240.400.975]
                  Wolff-Parkinson-White Syndrome [C16.131.240.400.980]
               Vascular Malformations [C16.131.240.850] +

      Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
         Genetic Diseases, Inborn [C16.320]
            Adrenal Hyperplasia, Congenital [C16.320.033]
            Alagille Syndrome [C16.320.051]
            alpha 1-Antitrypsin Deficiency [C16.320.060]
            Anemia, Hemolytic, Congenital [C16.320.070] +
            Anemia, Hypoplastic, Congenital [C16.320.077] +
            Ataxia Telangiectasia [C16.320.080]
            Autoimmune Lymphoproliferative Syndrome [C16.320.089]
            Blood Coagulation Disorders, Inherited [C16.320.099] +
            Brugada Syndrome [C16.320.100]
            CADASIL [C16.320.129]
            Camurati-Engelmann Syndrome [C16.320.144]
            Cardiomyopathy, Hypertrophic, Familial [C16.320.160]
            CHARGE Syndrome [C16.320.165]
            Cherubism [C16.320.170]
            Chromosome Disorders [C16.320.180] +
            Ciliopathies [C16.320.184] +
            Costello Syndrome [C16.320.188]
            Cystic Fibrosis [C16.320.190]
            Donohue Syndrome [C16.320.215]
            Dwarfism [C16.320.240] +
            Eye Diseases, Hereditary [C16.320.290] +
            Familial Multiple Lipomatosis [C16.320.298]
            Frasier Syndrome [C16.320.306]
            GATA2 Deficiency [C16.320.314]
            Genetic Diseases, X-Linked [C16.320.322]
               Aicardi Syndrome [C16.320.322.030]
               Androgen-Insensitivity Syndrome [C16.320.322.061]
               Barth Syndrome [C16.320.322.068] 
               Bulbo-Spinal Atrophy, X-Linked [C16.320.322.076]
               Choroideremia [C16.320.322.092]
               Dent Disease [C16.320.322.100]
               Dyskeratosis Congenita [C16.320.322.108]
               Ectodermal Dysplasia 1, Anhidrotic [C16.320.322.116]
               Fabry Disease [C16.320.322.124]
               Focal Dermal Hypoplasia [C16.320.322.186]
               Glycogen Storage Disease Type IIb [C16.320.322.201]
               Glycogen Storage Disease Type VIII [C16.320.322.217]
               Granulomatous Disease, Chronic [C16.320.322.233]
               Hemophilia B [C16.320.322.235]
               Hyper-IgM Immunodeficiency Syndrome, Type 1 [C16.320.322.237]
               Ichthyosis, X-Linked [C16.320.322.241]
               Isolated Noncompaction of the Ventricular Myocardium [C16.320.322.370]
               Mental Retardation, X-Linked [C16.320.322.500] +
               Muscular Dystrophy, Duchenne [C16.320.322.562]
               Muscular Dystrophy, Emery-Dreifuss [C16.320.322.625]
               Oculocerebrorenal Syndrome [C16.320.322.750]
               Ornithine Carbamoyltransferase Deficiency Disease [C16.320.322.828]
               Pelizaeus-Merzbacher Disease [C16.320.322.906]
               Wiskott-Aldrich Syndrome [C16.320.322.937]
               X-Linked Combined Immunodeficiency Diseases [C16.320.322.968]
            Genetic Diseases, Y-Linked [C16.320.338]
            Graves Ophthalmopathy [C16.320.347]
            Hajdu-Cheney Syndrome [C16.320.355]
            Hemoglobinopathies [C16.320.365] +
            Hereditary Autoinflammatory Diseases [C16.320.382] +
            Heredodegenerative Disorders, Nervous System [C16.320.400] +
            Hyper-IgM Immunodeficiency Syndrome [C16.320.413]
            Hyperthyroxinemia, Familial Dysalbuminemic [C16.320.427]
            Kallmann Syndrome [C16.320.467]
            Kartagener Syndrome [C16.320.480]
            Lennox Gastaut Syndrome [C16.320.495]
            Loeys-Dietz Syndrome [C16.320.510]
            Marfan Syndrome [C16.320.540]
            Metabolism, Inborn Errors [C16.320.565] +
            Muscular Dystrophies [C16.320.577] +
            Myasthenic Syndromes, Congenital [C16.320.590]
            Nail-Patella Syndrome [C16.320.600]
            Neoplastic Syndromes, Hereditary [C16.320.700] +
            Oculocerebrorenal Syndrome [C16.320.709]
            Orofaciodigital Syndromes [C16.320.714]
            Osteoarthropathy, Primary Hypertrophic [C16.320.718]
            Osteochondrodysplasias [C16.320.728]
            Osteogenesis Imperfecta [C16.320.737]
            Pain Insensitivity, Congenital [C16.320.775]
            Pelger-Huet Anomaly [C16.320.784]
            Primary Immunodeficiency Diseases [C16.320.798] +
            Pycnodysostosis [C16.320.812]
            Renal Tubular Transport, Inborn Errors [C16.320.831] +
            Skin Diseases, Genetic [C16.320.850] +
            Werner Syndrome [C16.320.925]
            Yellow Nail Syndrome [C16.320.962]

      Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
         Genetic Diseases, Inborn [C16.320]
            Metabolism, Inborn Errors [C16.320.565]
               Amino Acid Metabolism, Inborn Errors [C16.320.565.100] +
               Amino Acid Transport Disorders, Inborn [C16.320.565.151] +
               Amyloidosis, Familial [C16.320.565.176] +
               Brain Diseases, Metabolic, Inborn [C16.320.565.189] +
               Carbohydrate Metabolism, Inborn Errors [C16.320.565.202] +
               Cytochrome-c Oxidase Deficiency [C16.320.565.240]
               Hyperbilirubinemia, Hereditary [C16.320.565.300] +
               Lipid Metabolism, Inborn Errors [C16.320.565.398]
                  Barth Syndrome [C16.320.565.398.224] 
                  Hyperlipidemia, Familial Combined [C16.320.565.398.450]
                  Hyperlipoproteinemia Type I [C16.320.565.398.465]
                  Hyperlipoproteinemia Type II [C16.320.565.398.481]
                  Hyperlipoproteinemia Type III [C16.320.565.398.483]
                  Hyperlipoproteinemia Type IV [C16.320.565.398.487]
                  Hyperlipoproteinemia Type V [C16.320.565.398.493]
                  Hypolipoproteinemias [C16.320.565.398.500] +
                  Lipidoses [C16.320.565.398.641] +
                  Lipodystrophy, Congenital Generalized [C16.320.565.398.745]
                  Smith-Lemli-Opitz Syndrome [C16.320.565.398.850]
                  Xanthomatosis, Cerebrotendinous [C16.320.565.398.925]
               Lysosomal Storage Diseases [C16.320.565.595] +
               Metal Metabolism, Inborn Errors [C16.320.565.618] +
               Peroxisomal Disorders [C16.320.565.663] +
               Progeria [C16.320.565.753]
               Purine-Pyrimidine Metabolism, Inborn Errors [C16.320.565.798] +
               Renal Tubular Transport, Inborn Errors [C16.320.565.893]
               Steroid Metabolism, Inborn Errors [C16.320.565.925] +

      Nutritional and Metabolic Diseases [C18]
         Metabolic Diseases [C18.452]
            Metabolism, Inborn Errors [C18.452.648]
               Amino Acid Metabolism, Inborn Errors [C18.452.648.100] +
               Amino Acid Transport Disorders, Inborn [C18.452.648.151] +
               Amyloidosis, Familial [C18.452.648.176] +
               Brain Diseases, Metabolic, Inborn [C18.452.648.189] +
               Carbohydrate Metabolism, Inborn Errors [C18.452.648.202] +
               Hyperbilirubinemia, Hereditary [C18.452.648.300] +
               Lipid Metabolism, Inborn Errors [C18.452.648.398]
                  Barth Syndrome [C18.452.648.398.224] 
                  Hyperlipidemia, Familial Combined [C18.452.648.398.450]
                  Hyperlipoproteinemia Type I [C18.452.648.398.465]
                  Hyperlipoproteinemia Type II [C18.452.648.398.481]
                  Hyperlipoproteinemia Type III [C18.452.648.398.483]
                  Hyperlipoproteinemia Type IV [C18.452.648.398.487]
                  Hyperlipoproteinemia Type V [C18.452.648.398.493]
                  Hypolipoproteinemias [C18.452.648.398.500] +
                  Lipidoses [C18.452.648.398.641] +
                  Lipodystrophy, Congenital Generalized [C18.452.648.398.745]
                  Smith-Lemli-Opitz Syndrome [C18.452.648.398.850]
                  Xanthomatosis, Cerebrotendinous [C18.452.648.398.925]
               Lysosomal Storage Diseases [C18.452.648.595] +
               Metal Metabolism, Inborn Errors [C18.452.648.618] +
               Peroxisomal Disorders [C18.452.648.663] +
               Progeria [C18.452.648.753]
               Purine-Pyrimidine Metabolism, Inborn Errors [C18.452.648.798] +
               Renal Tubular Transport, Inborn Errors [C18.452.648.893]
               Steroid Metabolism, Inborn Errors [C18.452.648.925] +