IEMbase 0722: COA7-related cytochrome c oxidase assembly factor 7 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 722 |
| Nosology | 7.4.13.01 |
| Nosology code | IEM1088 |
| Gene | COA7 |
| External IDs | OMIM:220110; ORPHA:254905 |
| Generated mapping | UNMAPPED; weak candidate COA3-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | No exact COA7 target identified |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive COA7-related cytochrome c oxidase assembly factor 7 deficiency. The alternate-name field uses mitochondrial complex IV assembly deficiency with COA7 in parentheses.
The cached rows show childhood ataxia, infantile developmental delay, childhood peripheral neuropathy, and childhood leukodystrophy.
DisMech phenotype coverage
No exact COA7 local target was identified.
The weak COA3-Related_COX_Deficiency.yaml candidate shares the broad complex
IV assembly-factor category but is a different gene and disease. The COA3 file
emphasizes neuropathy, exercise intolerance, obesity, short stature, and a
mild adult-compatible course, which does not capture the COA7 leukodystrophy
and childhood ataxia profile.
Concordance and completeness
Judgement: true local COA7 gap. The COA3 candidate should be rejected as exact coverage.
The IEMbase record is sparse but points to a distinct COA7 complex IV assembly phenotype with neurodevelopmental, ataxic, peripheral-nerve, and white-matter features. Same pathway class is insufficient for exact disease coverage.
Curation actions
- Add a dedicated COA7 complex IV assembly deficiency target if curated.
- Reject
COA3-Related_COX_Deficiency.yamlas exact COA7 coverage. - Preserve ataxia, developmental delay, peripheral neuropathy, and leukodystrophy.
- Keep COA7 separate from COA3 despite shared complex IV assembly context.