IEMbase 0707: MT-ND3-related NADH dehydrogenase core subunit 3 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 707 |
| Nosology | 6.1.2.01 |
| Nosology code | IEM0432 |
| Gene | MT-ND3 |
| External IDs | OMIM:252010; ORPHA:99718 |
| Generated mapping | UNMAPPED; weak generated candidate to Pyruvate_Dehydrogenase_Deficiency.yaml |
| Candidate DisMech targets | Broad complex I/Leigh context only; no exact MT-ND3 target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents maternally inherited MT-ND3-related NADH dehydrogenase core subunit 3 deficiency.
Biochemical rows show decreased fibroblast complex I activity and increased plasma lactate across all age windows. Clinical rows include dystonia, epilepsy, abnormal eye movements, Leber hereditary optic neuropathy, and neuropathy. Characteristic rows include encephalopathy, Leigh syndrome, myopathy, and optic atrophy.
DisMech phenotype coverage
No exact MT-ND3 local target was identified.
Leigh_Syndrome.yaml covers complex I-related Leigh-spectrum neurologic
disease, including lactate elevation, dystonia/movement disorder, neuropathy,
seizures, and ophthalmologic involvement as broad features. It does not model
MT-ND3 specifically. No exact local LHON target was identified.
The weak generated Pyruvate_Dehydrogenase_Deficiency.yaml candidate is a
metabolic-neighbor false positive rather than mtDNA complex I disease.
Concordance and completeness
Judgement: true gene-specific local gap with broad Leigh overlap only.
The IEMbase row is a complex I core-subunit disease spanning Leigh, encephalopathy, epilepsy, dystonia, optic involvement, and neuropathy. The local Leigh entry can support syndrome context but is not complete MT-ND3 coverage.
Curation actions
- Add a dedicated MT-ND3 complex I deficiency target if curated.
- Reject pyruvate dehydrogenase deficiency as exact coverage.
- Preserve decreased complex I activity, increased lactate, dystonia, epilepsy, abnormal eye movements, LHON, neuropathy, encephalopathy, Leigh syndrome, myopathy, and optic atrophy.