Skip navigation

Disease Barth Syndrome

Name Barth Syndrome
Synonyms 3 Methylglutaconicaciduria Type 2 | 3-Methylglutaconicaciduria Type 2 | 3-Methylglutaconicaciduria Type 2s | 3-Methylglutaconicaciduria Type II | 3 Methylglutaconic Aciduria, Type II | 3-Methylglutaconic Aciduria, Type II | 3-Methylglutaconicaciduria Type IIs | BTHS | Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria | MGA2 | MGA Type 2 | MGA Type 2s | MGA Type II | MGA, TYPE II | MGA Type IIs | MGCA2 | Syndrome, Barth | Type 2, 3-Methylglutaconicaciduria | Type 2, MGA | Type 2s, MGA | Type II, MGA | Type IIs, MGA
Definition 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.
Categories Cardiovascular disease | Congenital abnormality | Genetic disease (inborn) | Metabolic disease
MeSH® ID D056889
OMIM® ID 302060
External Links

Top ↑ Ancestors

1. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated exposure references Cardiovascular Abnormalities Has associated chemicals Has associated genes Has associated exposure references Heart Defects, Congenital Has associated chemicals Has associated genes Has associated exposure references Barth Syndrome Has associated chemicals Has associated genes
2. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated exposure references Heart Diseases Has associated chemicals Has associated genes Has associated exposure references Heart Defects, Congenital Has associated chemicals Has associated genes Has associated exposure references Barth Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Barth Syndrome Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Cardiovascular Abnormalities Has associated chemicals Has associated genes Has associated exposure references Heart Defects, Congenital Has associated chemicals Has associated genes Has associated exposure references Barth Syndrome Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, X-Linked Has associated chemicals Has associated genes Barth Syndrome Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Barth Syndrome Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Barth Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Barth Syndrome Has associated chemicals Has associated genes
  Dilated cardiomyopathy, neutropenia, skeletal myopathy, and abnormal mitochondria
  Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked