IEMbase 0700: NDUFA12-related NADH dehydrogenase alpha subcomplex subunit 12 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 700 |
| Nosology | 7.1.14.01 |
| Nosology code | IEM0426 |
| Gene | NDUFA12 |
| External IDs | OMIM:618244; ORPHA:255241 |
| Generated mapping | CANDIDATE to COX11-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | Broad complex I/Leigh context only; no exact NDUFA12 target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive NDUFA12-related NADH dehydrogenase alpha subcomplex subunit 12 deficiency, also labeled mitochondrial complex I deficiency, nuclear type 23.
The biochemical row shows decreased fibroblast complex I activity through childhood. Clinical rows include growth retardation, Leigh syndrome, psychomotor retardation, dystonia, and hypotonia.
DisMech phenotype coverage
No exact NDUFA12 or MC1DN23 local target was identified.
Leigh_Syndrome.yaml covers the broad syndrome-level features: Leigh syndrome,
complex I deficiency context, dystonia/movement disorder, hypotonia, and
developmental impairment. It does not include NDUFA12 as a modeled causal gene.
The generated COX11-Related_COX_Deficiency.yaml candidate is a complex IV
copper-delivery disorder. It shares the nuclear-type number 23 but belongs to
MC4DN23 rather than MC1DN23.
Concordance and completeness
Judgement: true local gap with broad Leigh overlap only.
The IEMbase record is a sparse but specific NDUFA12 complex I disease. Generic Leigh syndrome can provide context, but the COX11 candidate is a wrong-complex number collision and should not be accepted as disease-level coverage.
Curation actions
- Add a dedicated NDUFA12/MC1DN23 target if curated.
- Reject COX11-related complex IV deficiency as exact coverage.
- Preserve decreased fibroblast complex I activity, growth retardation, Leigh syndrome, psychomotor retardation, dystonia, and hypotonia.