Details of Disease

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

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]

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]

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]

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.