IEMbase 0719: COA3-related cytochrome c oxidase assembly factor 3 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 719 |
| Nosology | 7.4.17.01 |
| Nosology code | IEM1146 |
| Gene | COA3 |
| External IDs | OMIM:619058; ORPHA:254905 |
| Generated mapping | UNMAPPED; weak candidate COA3-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | COA3-Related_COX_Deficiency.yaml is exact local coverage |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive COA3-related cytochrome c oxidase assembly factor 3 deficiency. The cached rows include exercise intolerance, neuropathy, obesity, developmental delay, and short stature, with the exercise-intolerance, neuropathy, and obesity signal concentrated in adolescent and adult windows.
DisMech phenotype coverage
DisMech has exact local coverage in COA3-Related_COX_Deficiency.yaml. The
entry resolves to mitochondrial complex IV deficiency nuclear type 14
(MONDO:0033649) and describes biallelic COA3/CCDC56 loss as an inner-membrane
complex IV assembly-factor defect that destabilizes COX1 and stalls early COX
assembly.
The local phenotype coverage is strong for peripheral neuropathy, exercise intolerance, obesity, and short stature. It also captures the unusually mild, adult-compatible clinical course and the COA3-COX14 interdependence that are not expressed in the compact IEMbase row set.
Concordance and completeness
Judgement: false negative from the generated mapper. The correct target is
COA3-Related_COX_Deficiency.yaml.
Identity, inheritance, gene, complex, assembly mechanism, and core phenotype signal all align. IEMbase adds a developmental-delay row that is not prominent in the local COA3 file, while DisMech is richer for the COX1-coupling assembly mechanism and the mild adult-compatible presentation.
Curation actions
- Resolve IEMbase 719 to
COA3-Related_COX_Deficiency.yaml. - Treat the generated UNMAPPED status as stale or overly strict.
- Consider whether the IEMbase developmental-delay row should prompt review of local phenotype breadth.
- Preserve local mechanistic detail on COA3/COX14 interdependence and COX1 assembly coupling.