IEMbase 0441: MRPS22-related mitochondrial ribosomal small subunit 22 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 441 |
| Nosology | 10.3.05.02 |
| Gene | MRPS22 |
| External IDs | OMIM:611719; ORPHA:137908 |
| Generated mapping | UNMAPPED; low candidate 3-Hydroxy-3-Methylglutaryl-CoA_Synthase_Deficiency.yaml |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents MRPS22-related mitochondrial ribosomal small subunit 22 deficiency, also called combined oxidative phosphorylation defect 5 (COXPD5). It records autosomal recessive inheritance. Biochemical rows include markedly decreased multiple oxidative phosphorylation enzyme activities in fibroblasts and muscle, neonatal hyperammonemia, and severe neonatal lactate elevation. Clinical rows include agenesis or hypoplasia of the corpus callosum, ascites, early death, hypotonia, hypertrophic cardiomyopathy, developmental delay, generalized edema, and renal tubulopathy. There are no treatment rows.
DisMech phenotype coverage
There is no exact local DisMech target for MRPS22/COXPD5. No local MRPS22- or COXPD5-specific disease file was identified.
The generated 3-Hydroxy-3-Methylglutaryl-CoA_Synthase_Deficiency.yaml
candidate is a false positive. Local HMGCS2 deficiency is a hepatic ketogenesis
disorder causing catabolic hypoketotic metabolic decompensation. It is not a
mitochondrial ribosomal small-subunit disorder and does not represent combined
OXPHOS deficiency with corpus-callosum malformation, edema, cardiomyopathy, and
renal tubulopathy.
Concordance and completeness
Judgement: true MRPS22/COXPD5 local gap; reject HMG-CoA synthase deficiency as an exact mapping.
The overlap is limited to metabolic-decompensation and lactate vocabulary. The gene, mitochondrial ribosome mechanism, combined OXPHOS signature, and neonatal multisystem phenotype are distinct.
Curation actions
- Keep this record unmapped until an MRPS22 mitochondrial ribosomal small subunit 22 deficiency or COXPD5 target exists.
- Do not map to
3-Hydroxy-3-Methylglutaryl-CoA_Synthase_Deficiency.yaml. - If curated, include MRPS22, autosomal recessive inheritance, mitochondrial ribosomal small-subunit dysfunction, combined OXPHOS deficiency in fibroblasts and muscle, neonatal lactate elevation, hyperammonemia, corpus-callosum agenesis or hypoplasia, hypertrophic cardiomyopathy, edema, hypotonia, developmental delay, renal tubulopathy, ascites, and early death.