IEMbase 0436: GFM1-related mitochondrial elongation factor G1 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 436 |
| Nosology | 10.3.02.01 |
| Gene | GFM1 |
| External IDs | OMIM:609060; ORPHA:137681 |
| Generated mapping | UNMAPPED; low candidate Mitochondrial_Trifunctional_Protein_Deficiency.yaml |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents GFM1-related mitochondrial elongation factor G1 deficiency, also called combined oxidative phosphorylation defect 1 (COXPD1) and early fatal progressive hepatoencephalopathy. It records autosomal recessive inheritance. Biochemical rows include increased plasma lactate and decreased fibroblast respiratory-chain activity. Clinical rows include encephalopathy, liver failure, death, growth retardation, and psychomotor delay. There are no treatment rows.
DisMech phenotype coverage
There is no exact local DisMech target for GFM1/COXPD1. The generated
Mitochondrial_Trifunctional_Protein_Deficiency.yaml candidate is a
mitochondrial-disease neighbor but not the same disorder. Local MTP deficiency
is a HADHA/HADHB long-chain fatty-acid beta-oxidation disorder with
hydroxyacylcarnitines, cardiomyopathy, hypoglycemia, neuropathy, and
rhabdomyolysis. It does not cover GFM1, mitochondrial translation elongation,
combined oxidative phosphorylation deficiency, early fatal
hepatoencephalopathy, or fibroblast respiratory-chain reduction.
No local search hit identified a GFM1-specific or COXPD1-specific disease file.
Concordance and completeness
Judgement: true GFM1/COXPD1 local gap; reject mitochondrial trifunctional protein deficiency as an exact mapping.
Both records are mitochondrial and may include lactate and severe multisystem disease, but their primary genes, pathways, biochemical markers, and disease identities are different.
Curation actions
- Keep this record unmapped until a GFM1 mitochondrial elongation factor G1 deficiency or COXPD1 target exists.
- Do not map to
Mitochondrial_Trifunctional_Protein_Deficiency.yaml. - If curated, include autosomal recessive GFM1, mitochondrial translation elongation failure, combined oxidative phosphorylation defect, lactate, decreased respiratory-chain activity in fibroblasts, encephalopathy, progressive liver failure, psychomotor delay, growth retardation, and early death.