Details of Disease

General Information of Disease (ID: DISEFBJL)

• Disease Name: Glycogen storage disease XV
• Synonyms: glycogen storage disease 15; glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; GSD 15; glycogenin deficiency; Gyg1 deficiency; GSD15; glycogenosis type XV; glycogen storage disease type XV; glycogen storage disease type 15; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; glycogen storage disease XV; glycogenosis type 15; glycogenosis with severe cardiomyopathy due to glycogenin deficiency; GSD type XV
• 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.
• Disease Hierarchy:
  DIS348BR: GYG1-related disorder of glycogen metabolism
  DISEFBJL: Glycogen storage disease XV
• Disease Identifiers:
  MONDO ID: MONDO_0013291
  UMLS CUI: C3150754
  OMIM ID: 613507
  MedGen ID: 462104
  Orphanet ID: 263297

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GYG1	OT9PU6I2	Strong	Autosomal recessive	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.