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IEMbase 0710: MT-ND5-related NADH dehydrogenase core subunit 5 deficiency

Scope

Field Value
IEMbase ID 710
Nosology 6.1.23.01
Nosology code IEM0435
Gene MT-ND5
External IDs OMIM:252010; ORPHA:255210
Generated mapping UNMAPPED
Candidate DisMech targets Partial MT-ND5 context in Leigh_Syndrome.yaml and MELAS_Syndrome.yaml; no exact MT-ND5 complex I deficiency target
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents maternally inherited MT-ND5-related NADH dehydrogenase core subunit 5 deficiency.

Biochemical rows show decreased fibroblast complex I activity and increased plasma lactate across all age windows. Clinical rows include childhood-to-adult Leber hereditary optic neuropathy, infantile-to-adult Leigh syndrome, MELAS-like features, source-spelled "MERFF-like syndrome", and renal failure. The characteristic clinical row adds infantile-to-adult myopathy.

DisMech phenotype coverage

There is meaningful but incomplete local context for MT-ND5.

Leigh_Syndrome.yaml lists MT-ND5 in its complex I deficiency section and models broad complex I-related Leigh syndrome. MELAS_Syndrome.yaml has an MT-ND5 and other genes subtype and a genetic entry for MT-ND5 and other mitochondrial-gene variants. Those entries support MT-ND5 as a contributor to Leigh/MELAS-spectrum disease.

However, no exact MT-ND5 complex I deficiency target was identified, and no local entry fully covers the IEMbase package of LHON, Leigh, MELAS-like, MERRF/MERFF-like, renal failure, myopathy, lactate, and decreased complex I activity.

Concordance and completeness

Judgement: partial syndrome/gene context only; exact MT-ND5 disease target is missing.

This is stronger than the other MT-ND rows because MT-ND5 is explicitly present in local Leigh and MELAS entries, but those entries are not a complete standalone MT-ND5 complex I deficiency mapping.

Curation actions

  • Keep Leigh_Syndrome.yaml and MELAS_Syndrome.yaml as partial MT-ND5 context.
  • Add a dedicated MT-ND5 complex I deficiency target or subtype if curated.
  • Preserve decreased complex I activity, increased lactate, LHON, Leigh syndrome, MELAS-like features, the source "MERFF-like" spelling for review, renal failure, and myopathy.