Details of Disease
General Information of Disease (ID: DISDI4KU)
Disease Name | Barth syndrome | |||||
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Synonyms |
Mga, type 2; 3-methylglutaconic aciduria type II; 3-Methylglutaconic aciduria, type 2; TAZ defect; BARTH syndrome; MGA2; 3-Methylglutaconicaciduria type 2; 3-Methylglutaconicaciduria type II; Barth syndrome; Barth syndrome, X-linked recessive; MGA type 2; BTHS; cardioskeletal myopathy-neutropenia syndrome; X-linked cardioskeletal myopathy and neutropenia; MGA type II; 3-methylglutaconic aciduria type 2; cardioskeletal myopathy with neutropenia and abnormal mitochondria
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Definition | Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria. | |||||
Disease Hierarchy | ||||||
Disease Identifiers | ||||||
Molecular Interaction Atlas (MIA) of This Disease
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This Disease Is Related to 2 DTT Molecule(s)
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This Disease Is Related to 1 DTP Molecule(s)
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This Disease Is Related to 9 DOT Molecule(s)
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References