IEMbase 0407: MT-TE-related mitochondrial myopathy with diabetes mellitus
Scope
| Field | Value |
|---|---|
| IEMbase ID | 407 |
| Nosology | 6.2.23.01 |
| Gene | MT-TE |
| External IDs | OMIM:500002; ORPHA:2596 |
| Generated mapping | UNMAPPED; low candidate Reversible_Infantile_Cytochrome_c_Oxidase_Deficiency.yaml |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents a mitochondrial MT-TE disorder linked to m.14709T>C, with mitochondrial inheritance. The characteristic signal is adolescent/adult hyperglycemia, insulin-dependent diabetes mellitus, and myopathy. Additional adult clinical rows include ataxia, neurocognitive and behavioral issues, and ophthalmoplegia. There are no treatment rows.
DisMech phenotype coverage
There is no exact local DisMech target for MT-TE-related mitochondrial myopathy
with diabetes mellitus. The generated
Reversible_Infantile_Cytochrome_c_Oxidase_Deficiency.yaml candidate shares the
MT-TE gene, but it is a different MT-TE disease centered on homoplasmic
m.14674T>C/G, infantile reversible respiratory-chain or COX-deficient myopathy,
neonatal/infantile hypotonia, lactate elevation, macroglossia, liver
dysfunction, and spontaneous recovery.
Local generic diabetes entries are also not appropriate because the IEMbase record is a maternally inherited mitochondrial diabetes-myopathy syndrome, not common type 2 diabetes or pancreatic agenesis.
Concordance and completeness
Judgement: true local gap; reject RIRCD as an exact mapping.
The shared MT-TE gene is not enough to merge these records. IEMbase 407 is distinguished by m.14709T>C, adolescent/adult diabetes plus myopathy, and a later-onset neurologic/ophthalmoplegic phenotype. Local RIRCD covers a different variant, different age window, and different clinical trajectory.
Curation actions
- Keep this record unmapped until an MT-TE m.14709T>C mitochondrial myopathy-with-diabetes target exists.
- Do not map to
Reversible_Infantile_Cytochrome_c_Oxidase_Deficiency.yaml. - If curated, include MT-TE/m.14709T>C, mitochondrial inheritance, insulin-dependent diabetes mellitus, hyperglycemia, myopathy, ataxia, neurocognitive issues, and ophthalmoplegia.