Barth syndrome

Term ID

DOID:0050476

Synonyms

• 3-methylglutaconicaciduria type 2
• 3-methylglutaconicaciduria type II
• MGA Type 2
• MGA type II

Definition

A 3-methylglutaconic aciduria that is characterized by dilated cardiomyopathy with endocardial fibroelastosis, a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid and that has_material_basis_in mutation in the tafazzin gene on chromosome Xq28. (2)

References

• GARD:5890
• ICD10CM:E78.71
• MESH:D056889
• MIM:302060
• NCI:C84585
• ORDO:111
• SNOMEDCT_US_2025_09_01:297231002
• UMLS_CUI:C0574083

Ontology

Human Disease   ( DOID:0050476 )