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IEMbase 0564: PRKAG2-related glycogen storage cardiomyopathy

Scope

Field Value
IEMbase ID 564
Nosology 3.4.15.01
Gene PRKAG2
External IDs OMIM:600858; OMIM:261740; OMIM:194200; ORPHA:439854
Generated mapping UNMAPPED; best candidate Mitochondrial_Neurogastrointestinal_Encephalomyopathy.yaml
Candidate DisMech targets No exact PRKAG2 target found
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents PRKAG2-related phosphorylase kinase deficiency, AMP-activated, with abbreviation AMPK-A. The record is autosomal dominant, idiopathic subtype, of unknown treatability, and has no treatment rows.

Biochemical rows include normal-high creatine kinase, decreased heart phosphorylase kinase, increased heart and muscle AMPK, very high heart glycogen, normal-high muscle glycogen, and low glucose. Clinical rows include myopathy, cardiac preexcitation, hypertrophic cardiomyopathy, early death, variable heart block, and hypoglycemia.

DisMech phenotype coverage

The generated Mitochondrial_Neurogastrointestinal_Encephalomyopathy.yaml candidate is not an exact target. MNGIE is a mitochondrial nucleotide metabolism disorder and does not cover PRKAG2/AMPK gamma subunit disease, cardiac glycogen storage, ventricular preexcitation, or conduction block. Targeted search did not find a PRKAG2-specific DisMech disease entry.

Concordance and completeness

Judgement: reject the MNGIE candidate; true PRKAG2 glycogen-storage cardiomyopathy / AMPK-related disease gap.

IEMbase contributes a focused cardiometabolic phenotype: dominant inheritance, high cardiac glycogen, abnormal AMPK activity, hypertrophic cardiomyopathy, cardiac preexcitation, variable heart block, hypoglycemia, and possible myopathy. These features are not represented by the generated mitochondrial candidate.

Curation actions

  • Reject Mitochondrial_Neurogastrointestinal_Encephalomyopathy.yaml as an exact mapping.
  • Add PRKAG2-related glycogen storage cardiomyopathy / AMPK-A disease to the backlog.
  • Preserve IEMbase heart glycogen, AMPK activity, cardiac preexcitation, heart-block, hypertrophic cardiomyopathy, hypoglycemia, and CK prompts for future curation.