IEMbase 0698: NDUFA10-related NADH dehydrogenase alpha subcomplex subunit 10 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 698 |
| Nosology | 7.1.13.01 |
| Nosology code | IEM0425 |
| Gene | NDUFA10 |
| External IDs | OMIM:618243; ORPHA:255241 |
| Generated mapping | CANDIDATE to COX16-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | Broad complex I/Leigh context only; no exact NDUFA10 target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive NDUFA10-related NADH dehydrogenase alpha subcomplex subunit 10 deficiency, also labeled mitochondrial complex I deficiency, nuclear type 22.
Biochemical rows show decreased fibroblast complex I activity and increased plasma lactate in neonatal and infantile windows. Clinical rows include lactic acidosis, psychomotor retardation, basal ganglia MRI abnormalities, hypertrophic cardiomyopathy, hypotonia, and Leigh syndrome.
DisMech phenotype coverage
No exact NDUFA10 or MC1DN22 local target was identified.
Leigh_Syndrome.yaml covers the shared complex I/Leigh phenotype space,
including lactate elevation, basal ganglia lesions, hypotonia, and
cardiomyopathy-associated Leigh presentations, but it lacks an NDUFA10-specific
gene or disease model.
The generated COX16-Related_COX_Deficiency.yaml candidate is a complex IV
assembly-factor disorder. It shares the nuclear-type number 22 but not the gene,
respiratory-chain complex, or disease mechanism.
Concordance and completeness
Judgement: true local gap with broad Leigh overlap only.
The IEMbase row is a gene-specific complex I disease with neonatal/infantile
lactate and enzyme findings plus cardiomyopathy and basal-ganglia Leigh
features. COX16-Related_COX_Deficiency.yaml is a wrong-complex
number-collision candidate.
Curation actions
- Add a dedicated NDUFA10/MC1DN22 target if curated.
- Reject COX16-related complex IV deficiency as exact coverage.
- Preserve decreased fibroblast complex I activity, increased plasma lactate, lactic acidosis, psychomotor retardation, basal ganglia MRI abnormalities, hypertrophic cardiomyopathy, hypotonia, and Leigh syndrome.