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IEMbase 0398: NOGENE-related Kearns Sayre Syndrome

Scope

Field Value
IEMbase ID 398
Nosology 6.3.02.01
Gene No single gene; single large-scale mtDNA deletion disorder
External IDs OMIM:530000; ORPHA:480
Generated mapping UNMAPPED; no candidate
Candidate DisMech targets Kearns-Sayre_Syndrome.yaml
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents Kearns-Sayre syndrome, abbreviated KSS. Clinical rows include onset before 20 years, myopathy, ophthalmoparesis, ophthalmoplegia, pigmentary retinopathy, ataxia, cardiomyopathy, cardiac conduction deficits, intellectual disability, and short stature. Biochemical rows include increased CSF protein and low-to-normal CSF 5-methyltetrahydrofolic acid. There are no treatment rows.

DisMech phenotype coverage

The generated unmapped status is a false negative. Local Kearns-Sayre_Syndrome.yaml models KSS as a single large-scale mitochondrial DNA deletion syndrome with onset before age 20, post-mitotic tissue energy failure, chronic progressive external ophthalmoplegia, pigmentary retinopathy, cardiac conduction disease, ataxia, hearing and endocrine involvement, lactate stress, and monitoring/treatment such as pacemaker consideration for conduction block.

Local DisMech is stronger for mtDNA deletion mechanism, tissue-specific energy failure, and management rationale. IEMbase adds concise CSF protein and CSF 5-MTHF biomarker prompts and separates ophthalmoparesis from ophthalmoplegia.

Concordance and completeness

Judgement: false negative; resolve to Kearns-Sayre_Syndrome.yaml.

The resources agree on KSS identity, lack of a single nuclear gene, single large-scale mtDNA deletion disease class, onset before 20 years, myopathy/ ophthalmoplegia, pigmentary retinopathy, cardiac conduction disease, and multisystem neurologic involvement.

Curation actions

  • Map this record to Kearns-Sayre_Syndrome.yaml.
  • Consider adding IEMbase's CSF protein, CSF 5-MTHF, ophthalmoparesis, cardiomyopathy, intellectual disability, and short-stature prompts after source verification.
  • Preserve the distinction between Pearson syndrome and KSS as separate disease entries within the same single large-scale mtDNA deletion continuum.