IEMbase 0691: NDUFS6-related NADH dehydrogenase iron-sulfur protein 6 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 691 |
| Nosology | 7.1.09.02 |
| Nosology code | IEM0421 |
| Gene | NDUFS6 |
| External IDs | OMIM:618232; ORPHA:2609 |
| Generated mapping | CANDIDATE to PET117-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | Broad complex I/Leigh context only; no exact NDUFS6 target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive NDUFS6-related NADH dehydrogenase iron-sulfur protein 6 deficiency, also labeled mitochondrial complex I deficiency, nuclear type 9.
Biochemical rows show decreased fibroblast complex I activity and increased plasma lactate in neonatal, infancy, and childhood ages. Clinical rows include failure to thrive and Leigh syndrome, with characteristic basal ganglia MRI abnormalities, hypertrophic cardiomyopathy, hypotonia, lactic acidosis, and severe multisystem disease.
DisMech phenotype coverage
No exact NDUFS6 or MC1DN9 local target was identified.
Leigh_Syndrome.yaml overlaps broadly but is not a gene-specific NDUFS6 model.
The generated PET117-Related_COX_Deficiency.yaml candidate is a complex IV
assembly-factor disorder and should be rejected.
Concordance and completeness
Judgement: true local gap.
The IEMbase row is a severe multisystem complex I deficiency with cardiomyopathy, basal ganglia lesions, hypotonia, lactic acidosis, and failure to thrive. It is not covered by a complex IV PET117 entry.
Curation actions
- Add a dedicated NDUFS6/MC1DN9 target if curated.
- Reject PET117-related complex IV deficiency as exact coverage.
- Preserve decreased complex I activity, increased lactate, severe multisystem disease, basal ganglia MRI abnormalities, hypertrophic cardiomyopathy, hypotonia, lactic acidosis, failure to thrive, and Leigh syndrome.