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IEMbase 0443: C12ORF65-related mitochondrial release factor deficiency

Scope

Field Value
IEMbase ID 443
Nosology 10.3.06.01
Gene MTRFR
External IDs OMIM:613559; ORPHA:320375
Generated mapping UNMAPPED; low candidate ALDH18A1_De_Barsy_Spectrum.yaml
Candidate DisMech targets No exact local target
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents C12ORF65-related mitochondrial release factor deficiency, also called combined oxidative phosphorylation defect 7 (COXPD7) and autosomal recessive spastic paraplegia type 55. The current gene symbol in the source data is MTRFR. IEMbase records autosomal recessive inheritance. Biochemical rows include decreased respiratory-chain activity in fibroblasts and increased CSF lactate in childhood. Clinical rows include encephalomyopathy, hypotonia, perinatal death, spastic paraparesis, paraplegia or tetraplegia, cerebral atrophy on MRI, nystagmus, optic atrophy, and psychomotor retardation. There are no treatment rows.

DisMech phenotype coverage

There is no exact local DisMech target for C12ORF65/MTRFR, COXPD7, or SPG55.

The generated ALDH18A1_De_Barsy_Spectrum.yaml candidate is a false positive. Local ALDH18A1 disease is a pyrroline-5-carboxylate synthase deficiency spectrum affecting proline and ornithine biosynthesis, with spastic paraplegia/cutis laxa spectrum labels. It does not represent C12ORF65/MTRFR mitochondrial release-factor dysfunction, combined OXPHOS deficiency, or the COXPD7/SPG55 entity.

Concordance and completeness

Judgement: true C12ORF65/MTRFR COXPD7/SPG55 local gap; reject the ALDH18A1 candidate as an exact mapping.

The generated candidate shares spastic-paraplegia vocabulary only. Gene, mechanism, mitochondrial translation-release biology, and biochemical evidence are discordant.

Curation actions

  • Keep this record unmapped until a C12ORF65/MTRFR mitochondrial release factor deficiency, COXPD7, or SPG55 target exists.
  • Do not map to ALDH18A1_De_Barsy_Spectrum.yaml.
  • If curated, include the C12ORF65 historical symbol and MTRFR current symbol, autosomal recessive inheritance, mitochondrial release-factor dysfunction, combined OXPHOS deficiency, decreased fibroblast respiratory-chain activity, increased CSF lactate, encephalomyopathy, hypotonia, spastic paraparesis or paraplegia, cerebral atrophy, optic atrophy, nystagmus, psychomotor retardation, and perinatal death.