Skip to content

IEMbase 0741: MT-ATP6-related mitochondrial ATP synthase subunit 6 deficiency

Scope

Field Value
IEMbase ID 741
Nosology 6.1.04.01
Nosology code IEM0484
Gene MT-ATP6
External IDs OMIM:516060; ORPHA:397750
Generated mapping UNMAPPED; weak candidate Myopathy_Lactic_Acidosis_and_Sideroblastic_Anemia.yaml
Candidate DisMech targets NARP_syndrome.yaml is the strongest MT-ATP6/NARP-spectrum target; Myopathy_Lactic_Acidosis_and_Sideroblastic_Anemia.yaml is partial MLASA3 context
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents mitochondrial MT-ATP6-related ATP synthase F0 subunit 6 deficiency, with alternate name neuropathy, ataxia, and retinitis pigmentosa. The cached rows are broad across the NARP/MILS/complex V spectrum: elevated CSF lactate in infancy/childhood, plasma lactate from neonatal life onward, infantile sideroblastic anemia, blindness, burst-suppression EEG, hypertrophic cardiomyopathy, cerebellar atrophy, cognitive decline, developmental delay, dystonia, failure to thrive, feeding difficulty, sensorineural hearing loss, hyperreflexia, hypotonia, Leigh-like MRI lesions, regression, night blindness, nystagmus, ophthalmoplegia, optic atrophy, perinatal death, ptosis, spasticity, stroke-like episodes, ataxia, epilepsy, muscle weakness, peripheral neuropathy, and retinitis pigmentosa.

DisMech phenotype coverage

NARP_syndrome.yaml is the correct local MT-ATP6/NARP-spectrum target even though the generated mapper missed it. It models maternally inherited MT-ATP6 ATP synthase dysfunction, impaired complex V assembly/ATP production, NARP and MILS overlap, and core neuroretinal phenotypes including neuropathy, ataxia, retinitis pigmentosa, hearing impairment, and related biochemical readouts.

The generated Myopathy_Lactic_Acidosis_and_Sideroblastic_Anemia.yaml candidate is partial context only. It contains an MLASA3 subtype and MT-ATP6 complex V respiratory defect, which explains the IEMbase sideroblastic anemia prompt, but it does not represent the primary NARP-spectrum disease identity.

Concordance and completeness

Judgement: false negative for NARP_syndrome.yaml, with MLASA as secondary context.

DisMech covers the central MT-ATP6/NARP mechanism and many characteristic neuroretinal features. IEMbase is broader for age-banded severity and adds or emphasizes sideroblastic anemia, burst-suppression EEG, hypertrophic cardiomyopathy, Leigh-like lesions, perinatal death, stroke-like episodes, ptosis, night blindness, spasticity, and detailed lactate bands.

Curation actions

  • Treat NARP_syndrome.yaml as the primary local target for this IEMbase record.
  • Keep Myopathy_Lactic_Acidosis_and_Sideroblastic_Anemia.yaml as MLASA3 context, not as the primary mapping.
  • Preserve IEMbase prompts for sideroblastic anemia, cardiomyopathy, EEG, Leigh/MILS overlap, regression, stroke-like episodes, ocular/retinal features, and age-banded lactate.