IEMbase 0714: UQCC3-related mitochondrial complex III deficiency, nuclear type 9
Scope
| Field | Value |
|---|---|
| IEMbase ID | 714 |
| Nosology | 7.3.06.01 |
| Nosology code | IEM1144 |
| Gene | UQCC3 |
| External IDs | OMIM:616111; ORPHA:1460 |
| Generated mapping | CANDIDATE to PET117-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | No exact UQCC3/MC3DN9 target identified |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive UQCC3-related mitochondrial complex III deficiency, nuclear type 9. MONDO resolves this disease to the UQCC3-specific complex III deficiency nuclear type 9 term with OMIM:616111.
The cached phenotype signal is concise. Biochemical rows show increased plasma lactate from neonatal through childhood windows. Clinical rows include developmental delay and short stature in infancy and childhood.
DisMech phenotype coverage
No exact UQCC3 or MC3DN9 local target was identified.
The generated PET117-Related_COX_Deficiency.yaml candidate is a complex IV
assembly disorder, not a UQCC3 complex III assembly-factor disease. Broad
respiratory-chain context from mitochondrial entries may overlap clinically,
but it does not provide exact molecular or disease coverage.
Concordance and completeness
Judgement: true local complex III gap. The PET117 candidate should be rejected.
The IEMbase record is sparse but specific for UQCC3/MC3DN9: lactate elevation, developmental delay, and short stature. The generated complex IV candidate is a wrong-complex mapping.
Curation actions
- Add a dedicated UQCC3/MC3DN9 target if curated.
- Reject
PET117-Related_COX_Deficiency.yamlas exact coverage. - Preserve increased lactate, developmental delay, and short stature.
- Keep UQCC3 complex III assembly disease distinct from PET117 complex IV deficiency.