IEMbase 0734: COX8A-related cytochrome c oxidase subunit 8A deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 734 |
| Nosology | 7.4.08.01 |
| Nosology code | IEM1145 |
| Gene | COX8A |
| External IDs | OMIM:619059; ORPHA:254905 |
| Generated mapping | UNMAPPED; weak candidate COX8A-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | COX8A-Related_COX_Deficiency.yaml is exact local coverage |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive COX8A-related cytochrome c oxidase subunit 8A deficiency. The cached phenotype rows include childhood/adolescent epilepsy, microcephaly across neonatal through adolescent windows, developmental delay across all age windows, and neonatal/infantile pulmonary hypertension.
DisMech phenotype coverage
DisMech has exact local coverage in COX8A-Related_COX_Deficiency.yaml. The
entry resolves to mitochondrial complex IV deficiency nuclear type 15
(MONDO:0033650) and describes biallelic COX8A splice disruption as loss of the
smallest nuclear-encoded structural subunit of complex IV, destabilizing the
holoenzyme.
Local phenotype coverage includes severe drug-resistant epilepsy and leukodystrophy in a Leigh-like syndrome.
Concordance and completeness
Judgement: false negative from the generated mapper. The correct target is
COX8A-Related_COX_Deficiency.yaml.
The IEMbase and local records align on COX8A, autosomal recessive complex IV structural-subunit disease, and epilepsy. IEMbase adds microcephaly, developmental delay, and pulmonary hypertension prompts, while DisMech captures leukodystrophy, Leigh-like framing, and the structural-subunit destabilization mechanism.
Curation actions
- Resolve IEMbase 734 to
COX8A-Related_COX_Deficiency.yaml. - Treat the generated UNMAPPED status as stale or overly strict.
- Consider reviewing local COX8A phenotypes for microcephaly, developmental delay, and pulmonary hypertension.
- Preserve local leukodystrophy and Leigh-like syndrome context.