General Information of Disease (ID: DISDI4KU)

Disease Name Barth syndrome
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
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
DIS9SA7V: Mitochondrial myopathy
DISBHDU9: Familial dilated cardiomyopathy
DISPGGVL: Syndromic dyslipidemia
DIS8G1WP: 3-methylglutaconic aciduria
DISZ74WG: Constitutional neutropenia
DIS0G6PI: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
DISDI4KU: Barth syndrome
Disease Identifiers
MONDO ID
MONDO_0010543
MESH ID
D056889
UMLS CUI
C0574083
OMIM ID
302060
MedGen ID
107893
Orphanet ID
111
SNOMED CT ID
297231002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FKBP1A TTMW94E Strong Genetic Variation [1]
PGC TT7K6AD Strong Biomarker [2]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC25A21 DT2UQYR Strong Posttranslational Modification [3]
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This Disease Is Related to 9 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATRN OTTCLOPV Strong Biomarker [4]
DTNA OTVBIRH2 Strong Genetic Variation [1]
HADHA OTO557N2 Strong Altered Expression [5]
LDB3 OTGQL1AM Strong Genetic Variation [1]
MEST OT8Q4U8Y Strong Biomarker [6]
MGA OTTLB216 Strong Genetic Variation [7]
OPA3 OT6NDC1M Strong Genetic Variation [8]
TMEM70 OTLTKYXG Strong Genetic Variation [7]
TAFAZZIN OTDR57KI Definitive X-linked [9]
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⏷ Show the Full List of 9 DOT(s)

References

1 Genetic heterogeneity of left-ventricular noncompaction cardiomyopathy.Clin Cardiol. 2008 May;31(5):201-4. doi: 10.1002/clc.20202.
2 A role for peroxisome proliferator-activated receptor coactivator 1 (PGC-1) in the regulation of cardiac mitochondrial phospholipid biosynthesis.J Biol Chem. 2014 Jan 24;289(4):2250-9. doi: 10.1074/jbc.M113.523654. Epub 2013 Dec 11.
3 Overexpression of mitochondrial oxodicarboxylate carrier (ODC1) preserves oxidative phosphorylation in a yeast model of Barth syndrome.Dis Model Mech. 2017 Apr 1;10(4):439-450. doi: 10.1242/dmm.027540. Epub 2017 Feb 10.
4 Barth syndrome.Orphanet J Rare Dis. 2013 Feb 12;8:23. doi: 10.1186/1750-1172-8-23.
5 Expression of human monolysocardiolipin acyltransferase-1 improves mitochondrial function in Barth syndrome lymphoblasts.J Biol Chem. 2018 May 18;293(20):7564-7577. doi: 10.1074/jbc.RA117.001024. Epub 2018 Mar 21.
6 Expression of Peg1 (Mest) in the developing mouse heart: involvement in trabeculation.Dev Dyn. 2002 Oct;225(2):212-5. doi: 10.1002/dvdy.10142.
7 Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.Am J Med Genet A. 2020 Jan;182(1):64-70. doi: 10.1002/ajmg.a.61383. Epub 2019 Nov 15.
8 Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.J Inherit Metab Dis. 2013 Nov;36(6):923-8. doi: 10.1007/s10545-012-9580-0. Epub 2013 Jan 8.
9 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.