IEMbase 0716: UQCRB-related mitochondrial complex III deficiency, nuclear type 3
Scope
| Field | Value |
|---|---|
| IEMbase ID | 716 |
| Nosology | 7.3.01.01 |
| Nosology code | IEM0456 |
| Gene | UQCRB |
| External IDs | OMIM:615158; ORPHA:1460 |
| Generated mapping | CANDIDATE to COX10-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | No exact UQCRB/MC3DN3 target identified |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive UQCRB-related mitochondrial complex III deficiency, nuclear type 3. MONDO resolves this disease to the UQCRB-specific complex III deficiency nuclear type 3 term with OMIM:615158.
The cached rows show a broad multisystem mitochondrial pattern. They include decreased complex III activity in fibroblasts and increased plasma lactate across age windows, with epilepsy, growth retardation, intellectual disability, cardiomyopathy, encephalopathy, exercise intolerance, lactic acidosis, and myopathy.
DisMech phenotype coverage
No exact UQCRB or MC3DN3 local target was identified.
The generated COX10-Related_COX_Deficiency.yaml candidate is a complex IV
heme A biosynthesis disorder, not a UQCRB complex III structural-subunit
deficiency. It is a wrong-complex respiratory-chain candidate rather than a
usable mapping.
Concordance and completeness
Judgement: true local complex III gap. The COX10 candidate should be rejected.
The IEMbase record supplies a strong UQCRB-specific complex III profile, including direct complex III activity evidence and a broad neurologic, cardiac, muscle, and lactate signal. That should remain separate from COX10 complex IV heme A biosynthesis disease.
Curation actions
- Add a dedicated UQCRB/MC3DN3 target if curated.
- Reject
COX10-Related_COX_Deficiency.yamlas exact coverage. - Preserve decreased fibroblast complex III activity, lactate elevation, epilepsy, growth retardation, intellectual disability, cardiomyopathy, encephalopathy, exercise intolerance, lactic acidosis, and myopathy.
- Keep complex III structural-subunit disease distinct from complex IV COX assembly or heme-biosynthesis disease.