IEMbase 0437: MRPS16-related mitochondrial ribosomal small subunit 16 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 437 |
| Nosology | 10.3.04.01 |
| Gene | MRPS16 |
| External IDs | OMIM:610498 |
| 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 MRPS16-related mitochondrial ribosomal small subunit 16 deficiency, also called combined oxidative phosphorylation defect 2 (COXPD2) and corpus callosum agenesis with dysmorphism and fatal lactic acidosis. It records autosomal recessive inheritance. Biochemical rows include neonatal markedly decreased multiple oxidative phosphorylation enzyme activities in liver and muscle, and markedly increased plasma lactate. Clinical rows include agenesis of the corpus callosum, minimal spontaneous movements, facial dysmorphism, low-set ears, hypotonia, and perinatal death. There are no treatment rows.
DisMech phenotype coverage
There is no exact local DisMech target for MRPS16/COXPD2. 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 unrelated to MRPS16,
mitochondrial ribosome small-subunit dysfunction, neonatal combined OXPHOS
enzyme deficiency, corpus-callosum agenesis, dysmorphism, and fatal lactic
acidosis.
No local search hit identified an MRPS16-specific or COXPD2-specific disease file.
Concordance and completeness
Judgement: true MRPS16/COXPD2 local gap; reject HMG-CoA synthase deficiency as an exact mapping.
The only substantial overlap is metabolic/lactic-acidosis vocabulary. The gene, proximal mechanism, affected pathway, neonatal neurologic-malformation phenotype, and expected course differ.
Curation actions
- Keep this record unmapped until an MRPS16 mitochondrial ribosomal small subunit 16 deficiency or COXPD2 target exists.
- Do not map to
3-Hydroxy-3-Methylglutaryl-CoA_Synthase_Deficiency.yaml. - If curated, include MRPS16, autosomal recessive inheritance, mitochondrial ribosomal small-subunit dysfunction, combined OXPHOS enzyme deficiency in liver/muscle, severe neonatal lactate elevation, corpus callosum agenesis, dysmorphism, low-set ears, hypotonia, minimal spontaneous movements, and perinatal death.