IEMbase 0711: MT-ND6-related NADH dehydrogenase core subunit 6 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 711 |
| Nosology | 6.1.24.01 |
| Nosology code | IEM0436 |
| Gene | MT-ND6 |
| External IDs | OMIM:252010; ORPHA:99718 |
| Generated mapping | UNMAPPED; weak generated candidate to Pyruvate_Dehydrogenase_Deficiency.yaml |
| Candidate DisMech targets | Broad complex I/Leigh/MELAS context only; no exact MT-ND6 target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents maternally inherited MT-ND6-related NADH dehydrogenase core subunit 6 deficiency.
Biochemical rows show decreased fibroblast complex I activity and increased plasma lactate across all age windows. Clinical rows include dystonia, lactic acidosis, childhood-to-adult Leber hereditary optic neuropathy, MELAS-like features across all age windows, and stroke-like episodes. Characteristic rows include epilepsy, Leigh syndrome, and optic atrophy.
DisMech phenotype coverage
No exact MT-ND6 local target was identified.
Leigh_Syndrome.yaml provides broad complex I and Leigh-spectrum context.
MELAS_Syndrome.yaml provides mitochondrial-gene MELAS context but is most
explicit for MT-ND5, not MT-ND6. No exact local LHON target was identified.
The weak generated Pyruvate_Dehydrogenase_Deficiency.yaml candidate is not an
mtDNA complex I subunit disorder.
Concordance and completeness
Judgement: true MT-ND6 local gap with broad syndrome overlap only.
The IEMbase row spans complex I deficiency, lactic acidosis, LHON, MELAS-like stroke-like episodes, epilepsy, Leigh syndrome, and optic atrophy. Current local entries are not complete disease-level coverage for MT-ND6.
Curation actions
- Add a dedicated MT-ND6 complex I deficiency target if curated.
- Reject pyruvate dehydrogenase deficiency as exact coverage.
- Preserve decreased complex I activity, increased lactate, dystonia, lactic acidosis, LHON, MELAS-like features, stroke-like episodes, epilepsy, Leigh syndrome, and optic atrophy.