IEMbase 0439: TSFM-related mitochondrial elongation factor Ts deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 439 |
| Nosology | 10.3.04.02 |
| Gene | TSFM |
| External IDs | OMIM:610505; ORPHA:168566 |
| Generated mapping | UNMAPPED; low candidate Beta-Ketothiolase_Deficiency.yaml |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents TSFM-related mitochondrial elongation factor Ts deficiency, also called encephalomyopathy, respiratory failure and lactic acidosis, and combined oxidative phosphorylation defect 3 (COXPD3). It records autosomal recessive inheritance. Biochemical rows include decreased respiratory-chain activity in fibroblasts and increased plasma lactate. Clinical rows include encephalomyopathy, respiratory failure, ataxia, cardiomyopathy, dystonia, hypotonia, optic atrophy, and death, with onset ranging from infancy into later childhood or adulthood. There are no treatment rows.
DisMech phenotype coverage
There is no exact local DisMech target for TSFM/COXPD3. No local TSFM- or COXPD3-specific disease file was identified.
The generated Beta-Ketothiolase_Deficiency.yaml candidate is a false positive.
Local beta-ketothiolase deficiency is an ACAT1 ketolysis and isoleucine
catabolism disorder with recurrent ketoacidosis and characteristic organic acid
and acylcarnitine markers. It is not a mitochondrial translation elongation
factor disorder and does not represent TSFM-related combined oxidative
phosphorylation deficiency.
Concordance and completeness
Judgement: true TSFM/COXPD3 local gap; reject beta-ketothiolase deficiency as an exact mapping.
The overlap is limited to broad mitochondrial or lactic-acidosis vocabulary. The gene, proximal mechanism, biochemical signature, and disease framing differ.
Curation actions
- Keep this record unmapped until a TSFM mitochondrial elongation factor Ts deficiency or COXPD3 target exists.
- Do not map to
Beta-Ketothiolase_Deficiency.yaml. - If curated, include TSFM, autosomal recessive inheritance, mitochondrial translation elongation-factor dysfunction, combined OXPHOS deficiency, fibroblast respiratory-chain deficiency, lactic acidosis, encephalomyopathy, respiratory failure, cardiomyopathy, optic atrophy, ataxia, hypotonia, dystonia, and early death.