Skip to content

IEMbase 0471: MT-RNR1-related mitochondrial ribosomal RNA 12S deficiency

Scope

Field Value
IEMbase ID 471
Nosology 6.2.07.01
Gene MT-RNR1
External IDs OMIM:580000; ORPHA:90641
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 MT-RNR1-related mitochondrial ribosomal RNA 12S deficiency, with alternate labels streptomycin ototoxicity and aminoglycoside-induced deafness. It records mitochondrial inheritance. The cached phenotype signal is sparse and consists of characteristic deafness across age ranges. There are no biochemical or treatment rows.

DisMech phenotype coverage

There is no exact local DisMech target for MT-RNR1-related aminoglycoside-induced deafness. Local modules and disease entries mention aminoglycoside ototoxicity as a general hair-cell injury or medication-safety context, and mitochondrial disease entries may warn against aminoglycosides, but those contexts do not model MT-RNR1 12S rRNA susceptibility as a disease entity.

The generated Mitochondrial_Trifunctional_Protein_Deficiency.yaml candidate is a false positive. Local MTP deficiency is a HADHA/HADHB long-chain fatty-acid oxidation disorder with long-chain hydroxyacylcarnitines, hypoglycemia, cardiomyopathy, rhabdomyolysis, neuropathy, and liver disease. It is not a mitochondrial 12S rRNA aminoglycoside-susceptibility disorder.

Concordance and completeness

Judgement: true MT-RNR1 aminoglycoside-induced deafness local gap; reject mitochondrial trifunctional protein deficiency as an exact mapping.

The candidate shares mitochondrial wording only. The gene, inheritance, triggered ototoxicity mechanism, and phenotype focus differ.

Curation actions

  • Keep this record unmapped until an MT-RNR1 mitochondrial 12S rRNA aminoglycoside-induced deafness target exists.
  • Do not map to Mitochondrial_Trifunctional_Protein_Deficiency.yaml.
  • Use generic aminoglycoside ototoxicity and sensorineural-hair-cell-loss modules only as context if a future MT-RNR1 entry is created.
  • If curated, include MT-RNR1, mitochondrial inheritance, aminoglycoside or streptomycin-triggered ototoxicity, and sensorineural deafness.