IEMbase 0717: UQCRQ-related mitochondrial complex III deficiency, nuclear type 4
Scope
| Field | Value |
|---|---|
| IEMbase ID | 717 |
| Nosology | 7.3.03.01 |
| Nosology code | IEM1143 |
| Gene | UQCRQ |
| External IDs | OMIM:615159; ORPHA:1460 |
| Generated mapping | CANDIDATE to SCO1-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | No exact UQCRQ/MC3DN4 target identified |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive UQCRQ-related mitochondrial complex III deficiency, nuclear type 4. MONDO resolves this disease to the UQCRQ-specific complex III deficiency nuclear type 4 term with OMIM:615159.
The cached phenotype table includes low-to-normal plasma glucose in neonatal and infantile windows, increased plasma lactate across age windows, possible basal ganglia MRI abnormalities, intellectual disability, loss of speech, and extrapyramidal signs.
DisMech phenotype coverage
No exact UQCRQ or MC3DN4 local target was identified.
The generated SCO1-Related_COX_Deficiency.yaml candidate is a complex IV
copper-delivery disorder, not a UQCRQ complex III deficiency. The candidate
shares broad mitochondrial and COX-deficiency language but does not match the
gene, complex, or disease identity.
Concordance and completeness
Judgement: true local complex III gap. The SCO1 candidate should be rejected.
The IEMbase signal is specific enough to justify standalone UQCRQ/MC3DN4 coverage if curated, with lactate elevation, basal ganglia involvement, speech loss, intellectual disability, and extrapyramidal features. Complex IV copper delivery is a different mechanism.
Curation actions
- Add a dedicated UQCRQ/MC3DN4 target if curated.
- Reject
SCO1-Related_COX_Deficiency.yamlas exact coverage. - Preserve low-to-normal glucose, lactate elevation, basal ganglia MRI abnormalities, intellectual disability, loss of speech, and extrapyramidal signs.
- Keep complex III UQCRQ disease separate from SCO1 complex IV copper delivery.