Skip to content

IEMbase 0705: MT-ND1-related NADH dehydrogenase core subunit 1 deficiency

Scope

Field Value
IEMbase ID 705
Nosology 6.1.18.01
Nosology code IEM0430
Gene MT-ND1
External IDs OMIM:252010; ORPHA:255210
Generated mapping UNMAPPED; weak generated candidate to Pyruvate_Dehydrogenase_Deficiency.yaml
Candidate DisMech targets Broad complex I/Leigh context only; no exact MT-ND1 target
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents maternally inherited MT-ND1-related NADH dehydrogenase core subunit 1 deficiency, within the mtDNA-encoded oxidative phosphorylation protein group.

Biochemical rows show decreased fibroblast complex I activity and increased plasma lactate across neonatal, infantile, childhood, adolescent, and adult windows. Clinical rows include childhood-to-adult exercise intolerance and adolescent/adult Leber hereditary optic neuropathy. Characteristic rows add hypertrophic cardiomyopathy, dystonia, MELAS-like features, myopathy, and spasticity.

DisMech phenotype coverage

No exact MT-ND1 local target was identified.

Leigh_Syndrome.yaml has broad complex I disease context and states that mtDNA MT-ND subunit variants can cause complex I-deficient Leigh-spectrum disease, but the local entry does not model MT-ND1 specifically. MELAS_Syndrome.yaml captures MT-ND5 and other mitochondrial-gene MELAS as a subtype, but it does not provide MT-ND1-specific coverage. No exact LHON entry was identified.

The weak generated Pyruvate_Dehydrogenase_Deficiency.yaml candidate is a pyruvate-metabolism neighbor, not an mtDNA complex I subunit disorder.

Concordance and completeness

Judgement: true gene-specific local gap with broad mitochondrial syndrome context only.

The local Leigh and MELAS entries are useful for syndrome-level interpretation, but they are not complete disease-level coverage for MT-ND1 complex I deficiency, LHON, cardiomyopathy, or the myopathy/spasticity package in this IEMbase row.

Curation actions

  • Add a dedicated MT-ND1 complex I deficiency target if curated.
  • Reject pyruvate dehydrogenase deficiency as exact coverage.
  • Preserve decreased complex I activity, increased lactate, exercise intolerance, LHON, hypertrophic cardiomyopathy, dystonia, MELAS-like features, myopathy, and spasticity.
  • Treat Leigh_Syndrome.yaml and MELAS_Syndrome.yaml as context, not exact MT-ND1 coverage.