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Barth syndrome

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.
Uniprot Description An X-linked disease characterized by dilated cardiomyopathy with endocardial fibroelastosis, a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Additional features include hypertrophic cardiomyopathy, isolated left ventricular non-compaction, ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood.
Disease Ontology Description A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.
Mondo Term and Equivalent IDs
MONDO:0010543:  Barth syndrome
GARD:0005890: 
ICD10:E78.71: 
MESH:D056889: 
NCIT:C84585: 
Orphanet:111: 
SCTID:297231002: 
UMLS:C0574083: