IEMbase 0739: ATP5F1A-related mitochondrial ATP synthase F1 alpha deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 739 |
| Nosology | 7.5.01.02 |
| Nosology code | IEM0481 |
| Gene | ATP5F1A |
| External IDs | OMIM:616045; OMIM:615228; ORPHA:254913 |
| Generated mapping | CANDIDATE; fuzzy SCO1-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | Broad complex V context only; no exact ATP5F1A target identified |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive ATP5F1A-related mitochondrial ATP synthase F1 subunit alpha deficiency, with alternate labels combined oxidative phosphorylation deficiency 22 and mitochondrial complex V deficiency, nuclear type 4. The cached rows are sparse but neonatal/infantile: increased plasma alanine, asymmetric white matter lesions, irritability, neonatal nystagmus, infantile perinatal death, neonatal/infantile hypotonia, and neonatal/infantile microcephaly.
DisMech phenotype coverage
No exact ATP5F1A target was identified locally.
The generated SCO1-Related_COX_Deficiency.yaml candidate is a false positive.
SCO1 is a nuclear complex IV copper-delivery disorder with hepatic failure,
encephalopathy, lactic acidosis, seizures, and hypopituitarism; it is not an
ATP synthase F1 alpha subunit disease. NARP_syndrome.yaml and
Myopathy_Lactic_Acidosis_and_Sideroblastic_Anemia.yaml are useful complex V
context, but they are MT-ATP6/8 or syndrome-specific and do not model ATP5F1A.
Concordance and completeness
Judgement: true ATP5F1A complex V local gap. Reject the SCO1 candidate as exact coverage.
IEMbase supplies a concise neonatal phenotype seed: alanine elevation, white matter lesions, irritability, nystagmus, hypotonia, microcephaly, and early death. DisMech currently has no ATP5F1A-specific structural ATP synthase entry.
Curation actions
- Add ATP5F1A-related mitochondrial complex V deficiency / COXPD22 to the complex V backlog.
- Reject
SCO1-Related_COX_Deficiency.yamlas exact coverage. - Preserve alanine, asymmetric white matter lesions, irritability, nystagmus, hypotonia, microcephaly, and perinatal-death prompts.