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Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

Disease definition

Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.

ORPHA:263297

Classification level: Disorder
  • Synonym(s):
    • GSD type 15
    • GSD type XV
    • GSD with severe cardiomyopathy due to glycogenin deficiency
    • Glycogen storage disease type 15
    • Glycogen storage disease type XV
    • Glycogenosis type 15
    • Glycogenosis type XV
    • Glycogenosis with severe cardiomyopathy due to glycogenin deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E74.0
  • OMIM: 613507
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2012) Español (2012) Italiano (2012) Nederlands (2012)

Detailed information

Guidelines

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.