IEMbase 0724: COX14-related cytochrome c oxidase assembly factor 14 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 724 |
| Nosology | 7.4.15.01 |
| Nosology code | IEM1148 |
| Gene | COX14 |
| External IDs | OMIM:220110; ORPHA:254905 |
| Generated mapping | UNMAPPED; weak candidate COX14-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | COX14-Related_COX_Deficiency.yaml is exact local coverage |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive COX14-related cytochrome c oxidase assembly factor 14 deficiency. The cached rows include increased plasma lactate in neonatal and infantile windows, neonatal lactic acidosis, neonatal perinatal death, and neonatal cardiomyopathy.
DisMech phenotype coverage
DisMech has exact local coverage in COX14-Related_COX_Deficiency.yaml. The
entry resolves to mitochondrial complex IV deficiency nuclear type 10
(MONDO:0033639) and describes biallelic COX14/C12orf62 loss as failure to
coordinate COX I synthesis with early complex IV assembly.
Local phenotypes include severe congenital lactic acidosis and dysmorphic facial features, with a fatal neonatal course captured in the description and mechanistic narrative.
Concordance and completeness
Judgement: false negative from the generated mapper. The correct target is
COX14-Related_COX_Deficiency.yaml.
The records align on COX14, autosomal recessive complex IV assembly failure, neonatal onset, lactate/lactic acidosis, and fatal severity. IEMbase adds explicit cardiomyopathy and perinatal-death phenotype rows, while DisMech is stronger for COX I assembly coupling and dysmorphology.
Curation actions
- Resolve IEMbase 724 to
COX14-Related_COX_Deficiency.yaml. - Treat the generated UNMAPPED status as stale or overly strict.
- Consider reviewing local COX14 phenotypes for explicit cardiomyopathy and perinatal death.
- Preserve local mechanism detail on COX I synthesis and early complex IV assembly.