IEMbase 0740: ATP5F1E-related mitochondrial ATP synthase F1 epsilon deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 740 |
| Nosology | 7.5.03.01 |
| Nosology code | IEM0483 |
| Gene | ATP5F1E |
| External IDs | OMIM:614053 |
| Generated mapping | CANDIDATE; fuzzy COX10-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | Broad complex V context only; no exact ATP5F1E target identified |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive ATP5F1E-related mitochondrial ATP synthase F1 subunit epsilon deficiency, also labeled mitochondrial complex V deficiency, nuclear type 3. The cached rows point to an adult presentation with elevated plasma lactate, hypertrophic cardiomyopathy, hypotonia, polyneuropathy, and psychomotor retardation.
DisMech phenotype coverage
No exact ATP5F1E target was identified locally.
The generated COX10-Related_COX_Deficiency.yaml candidate is not an exact
match. COX10 is a complex IV heme A biosynthesis/assembly disorder, whereas
ATP5F1E encodes an ATP synthase F1 epsilon subunit. Local complex V context in
NARP_syndrome.yaml and
Myopathy_Lactic_Acidosis_and_Sideroblastic_Anemia.yaml does not cover the
ATP5F1E disease identity.
Concordance and completeness
Judgement: true ATP5F1E complex V local gap. Reject the COX10 candidate as exact coverage.
IEMbase gives a focused adult phenotype prompt: lactate elevation, hypertrophic cardiomyopathy, hypotonia, polyneuropathy, and psychomotor delay. Those features overlap with mitochondrial disease generally, but DisMech lacks the ATP5F1E-specific entry.
Curation actions
- Add ATP5F1E-related mitochondrial complex V deficiency, nuclear type 3, to the complex V backlog.
- Reject
COX10-Related_COX_Deficiency.yamlas exact coverage. - Preserve adult lactate, hypertrophic cardiomyopathy, hypotonia, polyneuropathy, and psychomotor-delay prompts.