IEMbase 0059: TAZ-related Barth syndrome
Scope
| Field | Value |
|---|---|
| IEMbase ID | 59 |
| Nosology | 19.1.03.01 |
| Gene | TAZ |
| External IDs | OMIM:302060 |
| Generated mapping | MAPPED by alias_exact:barth syndrome |
| Candidate DisMech targets | Barth_Syndrome.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as X-linked TAZ-related Barth syndrome, with alternate label MGA2. Treatability is marked unknown and the listed prevalence is 1:454,000.
The biochemical signal includes low-normal free carnitine, normal-high creatine kinase, normal-high 2-ethylhydracrylic acid, increased urinary 3-methylglutaconic acid, increased urinary 3-methylglutaric acid, variable ammonia, cholesterol, glucose, lactate, and uric-acid findings, an abnormal cardiolipin profile, and low cardiolipin in general and in fibroblasts.
The characteristic clinical signal includes cardiomyopathy, growth retardation, myopathy, and neutropenia. Additional features include arrhythmia, dilated cardiomyopathy, cherubic face, chronic aphthous ulceration, clot or stroke risk, exercise intolerance, feeding difficulty, heart failure, hypoglycemia, axial hypotonia, left ventricular noncompaction, metabolic acidosis, mild dysmorphic features, occasional cerebral atrophy, respiratory distress, sepsis, and vomiting. No treatment rows are present in the cached IEMbase record.
DisMech phenotype coverage
The generated mapping to Barth_Syndrome.yaml is correct. DisMech models Barth
syndrome as an ultra-rare X-linked mitochondrial disorder caused by TAZ/TAFAZZIN
variants that disrupt cardiolipin remodeling, increase monolysocardiolipin,
decrease mature cardiolipin, and impair mitochondrial membrane structure,
oxidative phosphorylation, and metabolic flexibility.
DisMech covers cardiomyopathy, dilated cardiomyopathy, left ventricular noncompaction, arrhythmia vulnerability, skeletal myopathy, exercise intolerance, growth delay, recurrent bacterial infections, neutropenia through impaired myeloid maturation, lactic acidosis, and 3-methylglutaconic aciduria. It is substantially richer for cardiolipin remodeling and mitochondrial mechanism.
Concordance and completeness
Judgement: correct mapping and high concordance.
IEMbase adds several granular phenotype or lab reminders that are not all central in the DisMech summary: urinary 3-methylglutaric acid, free carnitine, cholesterol/glucose/uric-acid fields, cherubic face, aphthous ulcers, clot/stroke, respiratory distress, and sepsis. DisMech is much stronger for tafazzin/cardiolipin mechanism, MLCL/cardiolipin interpretation, cardiac and skeletal muscle pathophysiology, and neutropenia biology.
Curation actions
- Keep the generated mapping to
Barth_Syndrome.yaml. - Do not use generic 3-methylglutaconic aciduria alone to map other MGA records to Barth syndrome.
- Consider IEMbase-only facial, oral-ulcer, sepsis, and clot/stroke rows as possible future phenotype-enrichment checks.