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IEMbase 0694: NDUFA1-related NADH dehydrogenase alpha subcomplex subunit 1 deficiency

Scope

Field Value
IEMbase ID 694
Nosology 7.1.1.02
Nosology code IEM0422
Gene NDUFA1
External IDs OMIM:301020; ORPHA:2609
Generated mapping CANDIDATE to PET100-Related_COX_Deficiency.yaml
Candidate DisMech targets Broad complex I/Leigh context only; no exact NDUFA1 target
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents X-linked NDUFA1-related NADH dehydrogenase alpha subcomplex subunit 1 deficiency, also labeled mitochondrial complex I deficiency, nuclear type 12.

The biochemical rows show decreased fibroblast complex I activity and increased plasma lactate across neonatal, infantile, childhood, and adolescent windows. Clinical rows include epilepsy, hypotonia, lactic acidosis, psychomotor retardation, basal ganglia MRI abnormalities, and Leigh syndrome.

DisMech phenotype coverage

No exact NDUFA1 or MC1DN12 local target was identified.

Leigh_Syndrome.yaml provides broad syndrome-level context for complex I-deficient Leigh disease, lactate elevation, seizures, hypotonia, basal ganglia lesions, and psychomotor/developmental impairment, but it does not model NDUFA1 or the X-linked MC1DN12 entity.

The generated PET100-Related_COX_Deficiency.yaml candidate is a complex IV biogenesis disorder, not an NDUFA1 complex I subunit disorder. The match appears to be driven by mitochondrial-complex/nuclear-type lexical overlap rather than gene or mechanism concordance.

Concordance and completeness

Judgement: true local gap with broad Leigh overlap only.

The IEMbase row is a gene-specific complex I deficiency with an X-linked inheritance pattern and a compact Leigh/lactic-acidosis phenotype. Generic Leigh coverage is useful context but is not sufficient disease-level coverage, and PET100 should be rejected as exact coverage.

Curation actions

  • Add a dedicated NDUFA1/MC1DN12 target if curated.
  • Reject PET100-related complex IV deficiency as exact coverage.
  • Preserve decreased fibroblast complex I activity, increased plasma lactate, epilepsy, hypotonia, lactic acidosis, psychomotor retardation, basal ganglia MRI abnormalities, and Leigh syndrome.
  • Use Leigh_Syndrome.yaml only as broad syndrome context.