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IEMbase 0685: NDUFV1-related NADH dehydrogenase flavoprotein 1 deficiency

Scope

Field Value
IEMbase ID 685
Nosology 7.1.01.02
Nosology code IEM0413
Gene NDUFV1
External IDs OMIM:618225; ORPHA:255241
Generated mapping UNMAPPED
Candidate DisMech targets Partial gene-level coverage in Leigh_Syndrome.yaml; no standalone NDUFV1 target
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents autosomal recessive NDUFV1-related NADH dehydrogenase flavoprotein 1 deficiency, also labeled mitochondrial complex I deficiency, nuclear type 4.

Biochemical rows include decreased fibroblast complex I activity and increased plasma lactate from neonatal through adolescent ages. Clinical rows include ataxia, basal ganglia lesions, hypertrophic cardiomyopathy, encephalopathy, failure to thrive, lactic acidosis, Leigh syndrome, microcephaly, ophthalmoplegia, psychomotor regression, and characteristic brainstem lesions on MRI.

DisMech phenotype coverage

Leigh_Syndrome.yaml contains partial gene-level coverage: its complex I deficiency section lists NDUFV1 as a nuclear-encoded complex I gene whose biallelic variants can cause complex I-deficient Leigh syndrome. The entry also covers many shared phenotypes such as lactic acidosis, hypotonia/movement disorder, basal-ganglia lesions, ophthalmoplegia, failure to thrive, and cardiomyopathy.

However, there is no standalone NDUFV1 disease target or subtype with the IEMbase row's specific phenotype package and age-banded biochemical signal.

Concordance and completeness

Judgement: partial broad Leigh coverage only.

The local Leigh entry supports the general NDUFV1-to-complex-I-deficient-Leigh relationship, but it does not prove row-level completeness for NDUFV1/MC1DN4. Brainstem lesions, microcephaly, hypertrophic cardiomyopathy, ophthalmoplegia, and psychomotor regression should be reviewed specifically if curated.

Curation actions

  • Keep Leigh_Syndrome.yaml as partial gene/syndrome context.
  • Add a dedicated NDUFV1/MC1DN4 target or subtype if disease-level completeness is needed.
  • Preserve decreased complex I activity, increased lactate, basal ganglia and brainstem MRI lesions, cardiomyopathy, ophthalmoplegia, microcephaly, psychomotor regression, failure to thrive, ataxia, and encephalopathy.