IEMbase 0736: MT-CO2-related cytochrome c oxidase subunit 2 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 736 |
| Nosology | 6.1.02.01 |
| Nosology code | IEM0463 |
| Gene | MT-CO2 |
| External IDs | OMIM:516040; ORPHA:254905 |
| Generated mapping | UNMAPPED; weak candidate COX4I1-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | No exact MT-CO2 target identified |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents mitochondrial MT-CO2-related cytochrome c oxidase subunit 2 deficiency, under the mtDNA-encoded oxidative phosphorylation protein subgroup. The cached phenotype rows include plasma lactate elevation from neonatal life through adulthood, childhood cardiomyopathy and developmental delay as possible features, persistent myopathy from infancy through adulthood, possible childhood retinopathy, and muscle weakness across all age bands.
DisMech phenotype coverage
No exact MT-CO2 disease target was identified locally.
The generated COX4I1-Related_COX_Deficiency.yaml candidate is a different
complex IV structural-subunit disease: it models a nuclear COX4I1 defect rather
than a mitochondrially encoded COX2/MT-CO2 disorder. Local complex IV module and
grouping content mention mtDNA-encoded COX subunits as pathway context, and
COX18-Related_COX_Deficiency.yaml is mechanistically adjacent through COX2
membrane insertion, but neither is exact disease coverage.
Concordance and completeness
Judgement: true local MT-CO2 complex IV gap. Reject the COX4I1 candidate as exact coverage.
IEMbase supplies a compact phenotype seed for a future MT-CO2 entry: chronic lactate elevation, myopathy and weakness, plus possible cardiomyopathy, developmental delay, and retinopathy. DisMech has the reusable complex IV mechanism context, but not the mtDNA-encoded COX2 disease identity.
Curation actions
- Add a dedicated MT-CO2 cytochrome c oxidase subunit 2 deficiency target if curated.
- Reject
COX4I1-Related_COX_Deficiency.yamlas exact coverage. - Preserve age-banded lactate, myopathy, muscle weakness, cardiomyopathy, developmental-delay, and retinopathy prompts.