"Barth Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D056889
|
| MeSH Number(s) |
C14.240.400.172 C14.280.400.172 C16.131.077.121 C16.131.240.400.172 C16.320.322.068 C16.320.565.398.224 C18.452.648.398.224
|
| Concept/Terms |
Barth Syndrome- Barth Syndrome
- Syndrome, Barth
- 3-Methylglutaconicaciduria Type 2
- 3 Methylglutaconicaciduria Type 2
- 3-Methylglutaconicaciduria Type 2s
- Type 2, 3-Methylglutaconicaciduria
- 3-Methylglutaconicaciduria Type II
- 3-Methylglutaconicaciduria Type IIs
- MGA Type 2
- MGA Type 2s
- Type 2, MGA
- Type 2s, MGA
- MGA Type II
- MGA Type IIs
- Type II, MGA
- Type IIs, MGA
- 3-Methylglutaconic Aciduria, Type II
- 3 Methylglutaconic Aciduria, Type II
- Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria
|
Below are MeSH descriptors whose meaning is more general than "Barth Syndrome".
- Diseases [C]
- Cardiovascular Diseases [C14]
- Cardiovascular Abnormalities [C14.240]
- Heart Defects, Congenital [C14.240.400]
- Barth Syndrome [C14.240.400.172]
- Heart Diseases [C14.280]
- Heart Defects, Congenital [C14.280.400]
- Barth Syndrome [C14.280.400.172]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
- Abnormalities, Multiple [C16.131.077]
- Barth Syndrome [C16.131.077.121]
- Cardiovascular Abnormalities [C16.131.240]
- Heart Defects, Congenital [C16.131.240.400]
- Barth Syndrome [C16.131.240.400.172]
- Genetic Diseases, Inborn [C16.320]
- Genetic Diseases, X-Linked [C16.320.322]
- Barth Syndrome [C16.320.322.068]
- Metabolism, Inborn Errors [C16.320.565]
- Lipid Metabolism, Inborn Errors [C16.320.565.398]
- Barth Syndrome [C16.320.565.398.224]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Metabolism, Inborn Errors [C18.452.648]
- Lipid Metabolism, Inborn Errors [C18.452.648.398]
- Barth Syndrome [C18.452.648.398.224]
Below are MeSH descriptors whose meaning is more specific than "Barth Syndrome".
This graph shows the total number of publications written about "Barth Syndrome" by people in this website by year, and whether "Barth Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2015 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Barth Syndrome" by people in Profiles.
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Huang Y, Powers C, Moore V, Schafer C, Ren M, Phoon CK, James JF, Glukhov AV, Javadov S, Vaz FM, Jefferies JL, Strauss AW, Khuchua Z. The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndrome. Orphanet J Rare Dis. 2017 03 09; 12(1):49.
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Huang Y, Powers C, Madala SK, Greis KD, Haffey WD, Towbin JA, Purevjav E, Javadov S, Strauss AW, Khuchua Z. Cardiac metabolic pathways affected in the mouse model of barth syndrome. PLoS One. 2015; 10(6):e0128561.