IEMbase 0689: NDUFS3-related NADH dehydrogenase iron-sulfur protein 3 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 689 |
| Nosology | 7.1.05.02 |
| Nosology code | IEM0417 |
| Gene | NDUFS3 |
| External IDs | OMIM:256000; OMIM:252010; ORPHA:255241 |
| Generated mapping | CANDIDATE to TACO1-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | Broad complex I/Leigh context only; no exact NDUFS3 target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive NDUFS3-related NADH dehydrogenase iron-sulfur protein 3 deficiency, also labeled mitochondrial complex I deficiency, nuclear type 8.
The cached IEMbase record lists OMIM:256000 and OMIM:252010. The latter appears to correspond to NDUFS4/MC1DN1 rather than NDUFS3/MC1DN8, so it should be source-reviewed before downstream use as an NDUFS3-specific identifier.
The biochemical rows show decreased fibroblast complex I activity and increased plasma lactate from the neonatal period through childhood. Clinical rows include developmental delay, encephalopathy, Leigh syndrome, and characteristic myopathy through adolescence.
DisMech phenotype coverage
No exact NDUFS3 or MC1DN8 local target was identified.
Leigh_Syndrome.yaml provides broad syndrome-level context. The generated
TACO1-Related_COX_Deficiency.yaml candidate is a complex IV translation/COX
deficiency and should not be accepted as coverage for an NDUFS3 complex I
subunit disorder.
Concordance and completeness
Judgement: true local gap.
The row is compact but still needs gene-specific treatment as an NDUFS3 complex I disease with lactate elevation, developmental delay, encephalopathy, Leigh syndrome, and myopathy.
Curation actions
- Add a dedicated NDUFS3/MC1DN8 target if curated.
- Reject TACO1-related complex IV deficiency as exact coverage.
- Preserve decreased complex I activity, increased lactate, developmental delay, encephalopathy, Leigh syndrome, and myopathy.