IEMbase 0679: NDUFAF3-related complex I assembly factor 3 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 679 |
| Nosology | 7.1.03.01 |
| Nosology code | IEM0439 |
| Gene | NDUFAF3 |
| External IDs | OMIM:618240; ORPHA:70474 |
| Generated mapping | CANDIDATE to COX6A2-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | Broad complex I/Leigh context only; no exact NDUFAF3 target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive NDUFAF3-related complex I assembly factor 3 deficiency, also labeled mitochondrial complex I deficiency, nuclear type 18.
The cached phenotype signal is severe neonatal/infantile mitochondrial disease: decreased fibroblast complex I activity, characteristic increased plasma lactate, hypotonia, diffuse leukomalacia, respiratory failure, perinatal death, and characteristic optic atrophy.
DisMech phenotype coverage
No exact NDUFAF3 or MC1DN18 local target was identified.
Leigh_Syndrome.yaml and other broad mitochondrial entries provide generic
complex I/oxidative phosphorylation context but do not model the NDUFAF3 disease
entity or its severe neonatal leukomalacia/perinatal-death phenotype.
The generated COX6A2-Related_COX_Deficiency.yaml candidate is a complex IV
structural-subunit disorder and should be rejected as exact coverage.
Concordance and completeness
Judgement: true local gap.
The IEMbase row is compact but specific: early lethal complex I assembly-factor disease with lactate elevation, respiratory failure, optic atrophy, and diffuse leukomalacia. A complex IV myopathy/COX candidate does not cover this record.
Curation actions
- Add a dedicated NDUFAF3/MC1DN18 target if curated.
- Reject COX6A2-related complex IV deficiency as exact coverage.
- Preserve decreased fibroblast complex I activity, increased lactate, diffuse leukomalacia, respiratory failure, perinatal death, hypotonia, and optic atrophy.
- Use broad Leigh/complex I context only as background.