IEMbase 0720: COA5-related cytochrome c oxidase assembly factor 5 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 720 |
| Nosology | 7.4.16.01 |
| Nosology code | IEM1147 |
| Gene | COA5 |
| External IDs | OMIM:616500; ORPHA:1561 |
| Generated mapping | CANDIDATE to COX15-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | No exact COA5 target identified |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive COA5-related cytochrome c oxidase assembly factor 5 deficiency. The alternate-name field links the record to fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3.
The cached phenotype signal is sparse but severe: neonatal cardiomyopathy and neonatal perinatal death.
DisMech phenotype coverage
No exact COA5 local target was identified.
The generated COX15-Related_COX_Deficiency.yaml candidate is related at the
broad complex IV/COX-deficiency level, but it is a COX15 heme A synthase
disorder and corresponds to fatal infantile cardioencephalomyopathy due to
cytochrome c oxidase deficiency 2. It is not the COA5/type 3 disease.
Concordance and completeness
Judgement: true local COA5 gap. The COX15 candidate should be rejected as exact coverage.
Both records sit in the severe complex IV cardioencephalomyopathy space, but the gene and named disease type differ. Mapping COA5 to COX15 would collapse distinct COX-deficiency subtypes.
Curation actions
- Add a dedicated COA5 complex IV/COX assembly deficiency target if curated.
- Reject
COX15-Related_COX_Deficiency.yamlas exact COA5 coverage. - Preserve neonatal cardiomyopathy and perinatal death.
- Keep COA5 fatal infantile COX deficiency type 3 separate from COX15/type 2.