IEMbase 0683: FOXRED1-related mitochondrial complex I deficiency, nuclear type 19
Scope
| Field | Value |
|---|---|
| IEMbase ID | 683 |
| Nosology | 7.1.07.01 |
| Nosology code | IEM0443 |
| Gene | FOXRED1 |
| External IDs | OMIM:618241; ORPHA:255241 |
| Generated mapping | CANDIDATE to PET117-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | Broad complex I/Leigh context only; no exact FOXRED1 target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive FOXRED1-related mitochondrial complex I deficiency, nuclear type 19.
Biochemical rows include decreased fibroblast complex I activity and increased plasma lactate across all ages. Clinical rows include epilepsy, hypotonia, Leigh syndrome, characteristic hypertrophic cardiomyopathy in infancy/childhood, characteristic cerebellar atrophy on MRI across all ages, and characteristic pulmonary hypertension from infancy through adolescence.
DisMech phenotype coverage
No exact FOXRED1 or MC1DN19 target was identified.
Leigh_Syndrome.yaml provides broad overlap for complex I deficiency,
mitochondrial energy failure, lactic acidosis, hypotonia, seizures, basal
ganglia/brainstem vulnerability, and cardiomyopathy-associated Leigh syndrome.
It does not model FOXRED1 or the pulmonary-hypertension/cerebellar-atrophy
phenotype package.
The generated PET117-Related_COX_Deficiency.yaml candidate is a complex IV
assembly-factor disorder and should be rejected as exact coverage.
Concordance and completeness
Judgement: true local gap with broad Leigh/complex I context only.
The IEMbase row is a gene-specific complex I deficiency with useful extra features beyond generic Leigh syndrome: hypertrophic cardiomyopathy, cerebellar atrophy, and pulmonary hypertension.
Curation actions
- Add a dedicated FOXRED1/MC1DN19 target if curated.
- Reject PET117-related complex IV deficiency as exact coverage.
- Preserve decreased complex I activity, increased lactate, epilepsy, hypotonia, Leigh syndrome, hypertrophic cardiomyopathy, cerebellar atrophy, and pulmonary hypertension.
- Use broad Leigh syndrome context only for shared mitochondrial neurologic features.