IEMbase 0692: NDUFS7-related NADH dehydrogenase iron-sulfur protein 7 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 692 |
| Nosology | 7.1.06.02 |
| Nosology code | IEM0418 |
| Gene | NDUFS7 |
| External IDs | OMIM:618224; ORPHA:255241 |
| Generated mapping | CANDIDATE to COX10-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | Broad complex I/Leigh context only; no exact NDUFS7 target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive NDUFS7-related NADH dehydrogenase iron-sulfur protein 7 deficiency, also labeled mitochondrial complex I deficiency, nuclear type 3.
Biochemical rows include decreased fibroblast complex I activity and increased plasma lactate from neonatal through childhood ages. Clinical rows include ataxia, epilepsy, feeding difficulties, lactic acidosis, liver dysfunction, myopathy, and characteristic cardiomyopathy, encephalopathy, and Leigh syndrome.
DisMech phenotype coverage
No exact NDUFS7 or MC1DN3 local target was identified.
Leigh_Syndrome.yaml gives broad complex I/Leigh context. The generated
COX10-Related_COX_Deficiency.yaml candidate is a complex IV heme A
biosynthesis/COX deficiency, not an NDUFS7 complex I disorder.
Concordance and completeness
Judgement: true local gap.
The phenotype package includes multisystem neurologic, hepatic, feeding, myopathic, cardiac, and lactic-acidosis features. Generic Leigh syndrome does not provide NDUFS7 disease-level completeness.
Curation actions
- Add a dedicated NDUFS7/MC1DN3 target if curated.
- Reject COX10-related complex IV deficiency as exact coverage.
- Preserve decreased complex I activity, increased lactate, ataxia, epilepsy, feeding difficulties, lactic acidosis, liver dysfunction, myopathy, cardiomyopathy, encephalopathy, and Leigh syndrome.