IEMbase 0738: ATPAF2-related mitochondrial ATP synthase assembly factor deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 738 |
| Nosology | 7.5.02.01 |
| Nosology code | IEM1151 |
| Gene | ATPAF2 |
| External IDs | OMIM:604273; ORPHA:254913 |
| Generated mapping | CANDIDATE; fuzzy SURF1-Related_Leigh_Syndrome.yaml |
| Candidate DisMech targets | Broad complex V context only; no exact ATPAF2 target identified |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive ATPAF2-related mitochondrial ATP synthase F1 assembly factor 2 deficiency, also labeled mitochondrial complex V deficiency, nuclear type 1. The phenotype rows are neonatal/infantile and multisystem: urinary 3-methylglutaconic and fumaric acid elevations, CSF, plasma, and urinary lactate elevation, basal ganglia abnormalities, corpus callosum abnormalities, cortical and subcortical atrophy, developmental delay, feeding difficulty, failure to thrive, hepatomegaly, hypertonia, seizures, renal hypoplasia, perinatal death, and multiple dysmorphology prompts including frontal bossing, micrognathia, low-set ears, hypospadias, large mouth, prominent nasal bridge, and rocker-bottom feet.
DisMech phenotype coverage
No exact ATPAF2 target was identified in DisMech.
The generated SURF1-Related_Leigh_Syndrome.yaml candidate is a false positive
for this record. SURF1 is a complex IV assembly-factor Leigh syndrome entry,
whereas ATPAF2 is a nuclear complex V assembly factor. Both can involve lactate
and basal ganglia/Leigh-like neuroimaging, but the gene, respiratory-chain
complex, and disease identity differ. NARP_syndrome.yaml,
Myopathy_Lactic_Acidosis_and_Sideroblastic_Anemia.yaml, and the prior TMEM70
note provide complex V context only.
Concordance and completeness
Judgement: true ATPAF2 complex V local gap. Reject the SURF1 candidate as exact coverage.
IEMbase is relatively complete for initial phenotype seeding, especially for neonatal lactate and organic-acid abnormalities, neuroimaging, seizures, renal/hepatic involvement, dysmorphology, feeding/FTT, and early lethality. DisMech currently lacks the ATPAF2-specific complex V assembly disease entity.
Curation actions
- Add ATPAF2-related mitochondrial complex V deficiency, nuclear type 1, to the complex V backlog.
- Reject
SURF1-Related_Leigh_Syndrome.yamlas exact coverage. - Preserve neonatal organic-acid, lactate, neuroimaging, renal, hepatic, dysmorphology, seizure, feeding, FTT, and perinatal-death prompts.