IEMbase 0723: COX10-related cytochrome c oxidase assembly factor 10 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 723 |
| Nosology | 7.4.02.01 |
| Nosology code | IEM0470 |
| Gene | COX10 |
| External IDs | OMIM:220110; OMIM:256000; ORPHA:254905 |
| Generated mapping | UNMAPPED; weak candidate COX10-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | COX10-Related_COX_Deficiency.yaml is exact local coverage |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive COX10-related cytochrome c oxidase assembly factor 10 deficiency. The alternate-name field includes Leigh syndrome due to mitochondrial COX4 deficiency, which should be preserved as source wording but treated cautiously because the gene in this record is COX10.
The cached rows include neonatal and infantile low-to-normal plasma glucose, low neonatal hemoglobin, increased plasma lactate, possible anemia and cardiomyopathy, Leigh syndrome, perinatal death, proximal renal tubulopathy, developmental delay, and hypotonia.
DisMech phenotype coverage
DisMech has exact local coverage in COX10-Related_COX_Deficiency.yaml. The
entry resolves to mitochondrial complex IV deficiency nuclear type 3
(MONDO:0033635) and describes biallelic COX10 loss as a heme O synthase defect
that impairs heme A biosynthesis and complex IV assembly.
Local phenotypes include Leigh syndrome or encephalopathy, muscle weakness, and lactic acidosis. The local mechanism is strong for the COX10 heme A biosynthesis step.
Concordance and completeness
Judgement: false negative from the generated mapper. The correct target is
COX10-Related_COX_Deficiency.yaml.
Gene, inheritance, complex IV biology, and Leigh/lactate identity align. The IEMbase record adds useful phenotype prompts not prominent in the local file, including glucose, hemoglobin/anemia, cardiomyopathy, perinatal death, proximal renal tubulopathy, developmental delay, and hypotonia.
Curation actions
- Resolve IEMbase 723 to
COX10-Related_COX_Deficiency.yaml. - Preserve the source alternate-name anomaly without letting it override the COX10 disease identity.
- Consider reviewing local COX10 phenotypes for anemia/hemoglobin, glucose, cardiomyopathy, renal tubulopathy, developmental delay, and hypotonia.
- Keep COX10 heme O synthase disease distinct from other COX assembly factors.