IEMbase 0737: MT-CO3-related cytochrome c oxidase subunit 3 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 737 |
| Nosology | 6.1.03.01 |
| Nosology code | IEM0464 |
| Gene | MT-CO3 |
| External IDs | OMIM:516050; ORPHA:99845 |
| Generated mapping | UNMAPPED; weak candidate COX4I1-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | No exact MT-CO3 target identified |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents mitochondrial MT-CO3-related cytochrome c oxidase subunit 3 deficiency. The cached rows emphasize elevated plasma lactate from infancy through adulthood, myopathy and muscle weakness from childhood through adulthood, possible childhood Leigh syndrome, and possible psychomotor retardation from infancy through adolescence.
DisMech phenotype coverage
No exact MT-CO3 local target was identified.
The generated COX4I1-Related_COX_Deficiency.yaml candidate should be treated
as a pathway neighbor only. COX4I1 is a nuclear-encoded complex IV subunit with
autosomal recessive genetics and a COX4-1 structural/regulatory mechanism; it is
not the mtDNA-encoded COX3 disease represented by IEMbase. Existing complex IV
module/grouping content provides reusable context but not an MT-CO3 disease
entry.
Concordance and completeness
Judgement: true MT-CO3 mtDNA-encoded complex IV gap. The local COX4I1 entry is not an exact mapping.
IEMbase is useful for future curation because it separates the MT-CO3 phenotype from adjacent complex IV subunit disorders and captures lactate, myopathy, weakness, possible Leigh syndrome, and psychomotor delay.
Curation actions
- Add a dedicated MT-CO3 cytochrome c oxidase subunit 3 deficiency target if curated.
- Reject
COX4I1-Related_COX_Deficiency.yamlas exact coverage. - Preserve lactate, myopathy, weakness, Leigh-syndrome, and psychomotor-delay prompts.