IEMbase 0688: NDUFS2-related NADH dehydrogenase iron-sulfur protein 2 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 688 |
| Nosology | 7.1.04.02 |
| Nosology code | IEM0416 |
| Gene | NDUFS2 |
| External IDs | OMIM:618228; ORPHA:70474 |
| Generated mapping | CANDIDATE to COX4I1-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | Broad complex I/Leigh context only; no exact NDUFS2 target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive NDUFS2-related NADH dehydrogenase iron-sulfur protein 2 deficiency, also labeled mitochondrial complex I deficiency, nuclear type 6.
Biochemical rows include decreased fibroblast complex I activity and increased plasma lactate across all ages. Clinical rows include encephalopathy, hypotonia, Leigh syndrome, liver dysfunction, parkinsonism, and characteristic hypertrophic cardiomyopathy and myopathy.
DisMech phenotype coverage
No exact NDUFS2 or MC1DN6 local target was identified.
Leigh_Syndrome.yaml overlaps at the syndrome level but does not capture this
gene-specific complex I subunit disease. The generated COX4I1-Related_COX_Deficiency.yaml
candidate is a complex IV regulatory-subunit disorder, not NDUFS2-related
complex I disease.
Concordance and completeness
Judgement: true local gap.
The IEMbase row should be kept distinct from complex IV deficiency and from generic Leigh syndrome, especially because it includes liver dysfunction, parkinsonism, myopathy, and hypertrophic cardiomyopathy.
Curation actions
- Add a dedicated NDUFS2/MC1DN6 target if curated.
- Reject COX4I1-related complex IV deficiency as exact coverage.
- Preserve decreased complex I activity, increased lactate, encephalopathy, hypotonia, Leigh syndrome, liver dysfunction, parkinsonism, hypertrophic cardiomyopathy, and myopathy.