IEMbase 0735: MT-CO1-related cytochrome c oxidase subunit 1 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 735 |
| Nosology | 6.1.01.01 |
| Nosology code | IEM0462 |
| Gene | MT-CO1 |
| External IDs | OMIM:516030; ORPHA:99845 |
| Generated mapping | UNMAPPED; weak candidate COX4I1-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | No exact MT-CO1 target identified |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents MT-CO1-related cytochrome c oxidase subunit 1 deficiency. The cached rows include normal-to-high plasma alanine in adulthood, adult-onset rhabdomyolysis, adolescent/adult stroke-like episodes, epilepsy, and muscle weakness.
The source inheritance field says autosomal recessive, which is incongruent with MT-CO1 being an mtDNA-encoded gene and should be reviewed before any future KB modeling.
DisMech phenotype coverage
No exact MT-CO1 local target was identified.
The generated COX4I1-Related_COX_Deficiency.yaml candidate is a nuclear
COX4I1 structural-subunit disease, not a mitochondrially encoded COX1/MT-CO1
disorder. Local complex IV module and grouping content mention mtDNA-encoded
COX subunits as pathway context, but that is not exact disease coverage.
Concordance and completeness
Judgement: true local MT-CO1 complex IV gap. The COX4I1 candidate should be rejected as exact coverage.
The IEMbase row points to an mtDNA-encoded core subunit disease with adult myopathic and stroke-like features. COX4I1 is a different nuclear-encoded structural/regulatory subunit with distinct genetics and local phenotype scope.
Curation actions
- Add a dedicated MT-CO1 cytochrome c oxidase subunit 1 deficiency target if curated.
- Reject
COX4I1-Related_COX_Deficiency.yamlas exact coverage. - Preserve normal-to-high alanine, rhabdomyolysis, stroke-like episodes, epilepsy, and muscle weakness.
- Review the source inheritance field before modeling this mtDNA-encoded disease.