IEMbase 0729: SURF1-related COX IV deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 729 |
| Nosology | 7.4.07.01 |
| Nosology code | IEM0475 |
| Gene | SURF1 |
| External IDs | OMIM:256000; OMIM:616684; ORPHA:391351 |
| Generated mapping | UNMAPPED; weak candidate SURF1-Related_Leigh_Syndrome.yaml |
| Candidate DisMech targets | SURF1-Related_Leigh_Syndrome.yaml is exact local coverage |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive SURF1-related COX IV deficiency, with alternate names Leigh syndrome due to COX IV deficiency and Charcot-Marie-Tooth disease type 4K. The cached rows include increased CSF and plasma lactate, basal ganglia and brainstem MRI abnormalities, possible hypertrophic cardiomyopathy, epilepsy, feeding difficulties, hypertrichosis, hypotonia, Leigh syndrome, regression, ophthalmoplegia, possible optic atrophy, perinatal death, respiratory failure, psychomotor retardation, short stature, tremor, vomiting, ataxia, failure to thrive, and nystagmus.
DisMech phenotype coverage
DisMech has exact local coverage in SURF1-Related_Leigh_Syndrome.yaml. The
entry resolves to mitochondrial complex IV deficiency nuclear type 1
(MONDO:0700250) and describes biallelic SURF1 loss as an early complex IV
assembly-factor defect causing the prototypic nuclear-encoded Leigh syndrome.
Local phenotype coverage includes developmental regression, delayed growth and development, brainstem abnormalities, lactic acidosis, encephalopathy, and muscular hypotonia, with reduced COX activity as the defining biochemical feature.
Concordance and completeness
Judgement: false negative from the generated mapper. The correct target is
SURF1-Related_Leigh_Syndrome.yaml.
The IEMbase and local records align strongly on SURF1, autosomal recessive complex IV assembly failure, Leigh syndrome, lactate, brainstem involvement, basal ganglia disease, hypotonia, and regression. IEMbase adds useful prompts for hypertrichosis, ophthalmoplegia, tremor, nystagmus, feeding/vomiting, cardiomyopathy, optic atrophy, respiratory failure, perinatal death, and the CMT4K alternate context.
Curation actions
- Resolve IEMbase 729 to
SURF1-Related_Leigh_Syndrome.yaml. - Treat the generated UNMAPPED status as stale or overly strict.
- Preserve broad IEMbase phenotype prompts, especially hypertrichosis, ophthalmoplegia, tremor, nystagmus, and cardiomyopathy.
- Keep Charcot-Marie-Tooth type 4K as secondary alternate-name context, not as the primary mapping target for this Leigh/COX deficiency row.