IEMbase 0686: NDUFV2-related NADH dehydrogenase flavoprotein 2 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 686 |
| Nosology | 7.1.02.02 |
| Nosology code | IEM0414 |
| Gene | NDUFV2 |
| External IDs | OMIM:618229; ORPHA:255241 |
| Generated mapping | CANDIDATE to COX6B1-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | Broad complex I/Leigh context only; no exact NDUFV2 target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive NDUFV2-related NADH dehydrogenase flavoprotein 2 deficiency, also labeled mitochondrial complex I deficiency, nuclear type 7.
The biochemical row shows decreased fibroblast complex I activity across all ages. Clinical rows include Leigh syndrome, leukodystrophy, liver dysfunction, myopathy, optic neuropathy, parkinsonism, and characteristic hypertrophic cardiomyopathy.
DisMech phenotype coverage
No exact NDUFV2 or MC1DN7 local target was identified.
Leigh_Syndrome.yaml provides broad complex I/Leigh context but does not model
NDUFV2 or the combination of leukodystrophy, liver dysfunction, optic neuropathy,
parkinsonism, myopathy, and hypertrophic cardiomyopathy.
The generated COX6B1-Related_COX_Deficiency.yaml candidate is a complex IV
deficiency and should be rejected as exact coverage.
Concordance and completeness
Judgement: true local gap with broad Leigh overlap only.
The IEMbase row has several non-generic prompts that are not guaranteed by a generic Leigh mapping, especially leukodystrophy, optic neuropathy, parkinsonism, liver dysfunction, and hypertrophic cardiomyopathy.
Curation actions
- Add a dedicated NDUFV2/MC1DN7 target if curated.
- Reject COX6B1-related complex IV deficiency as exact coverage.
- Preserve decreased complex I activity, Leigh syndrome, leukodystrophy, liver dysfunction, myopathy, optic neuropathy, parkinsonism, and hypertrophic cardiomyopathy.