IEMbase 0693: NDUFS8-related NADH dehydrogenase iron-sulfur protein 8 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 693 |
| Nosology | 7.1.07.02 |
| Nosology code | IEM0419 |
| Gene | NDUFS8 |
| External IDs | OMIM:618222; ORPHA:255241 |
| Generated mapping | CANDIDATE to COX11-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | Broad complex I/Leigh context only; no exact NDUFS8 target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive NDUFS8-related NADH dehydrogenase iron-sulfur protein 8 deficiency, also labeled mitochondrial complex I deficiency, nuclear type 2.
The biochemical row shows decreased fibroblast complex I activity across all ages. Clinical rows include Leigh syndrome, ataxia, dysarthria, hypotonia, and characteristic hypertrophic cardiomyopathy, myopathy, and progressive external ophthalmoplegia.
DisMech phenotype coverage
No exact NDUFS8 or MC1DN2 local target was identified.
Leigh_Syndrome.yaml provides broad overlap for Leigh syndrome, hypotonia,
ataxia, ophthalmoplegia, and cardiomyopathy, but it does not model NDUFS8 or
this specific disease entity.
The generated COX11-Related_COX_Deficiency.yaml candidate is a complex IV
disorder and should be rejected as exact coverage.
Concordance and completeness
Judgement: true local gap with broad Leigh overlap only.
The IEMbase row highlights a complex I biochemical defect with cardiomyopathy, myopathy, dysarthria, ataxia, hypotonia, Leigh syndrome, and progressive external ophthalmoplegia. These should not be attributed to COX11.
Curation actions
- Add a dedicated NDUFS8/MC1DN2 target if curated.
- Reject COX11-related complex IV deficiency as exact coverage.
- Preserve decreased complex I activity, Leigh syndrome, ataxia, dysarthria, hypotonia, hypertrophic cardiomyopathy, myopathy, and progressive external ophthalmoplegia.