Details of Disease

General Information of Disease (ID: DISLV8CK)

• Disease Name: Glycogen storage disorder due to hepatic glycogen synthase deficiency
• Synonyms: glycogen storage disease type 0, liver; liver glycogen storage disease 0; liver GSD 0; hepatic glycogen synthase deficiency; GSD0A; hypoglycemia with deficiency of glycogen synthetase in the liver; liver glycogen synthase deficiency; glycogen storage disease type 0; GSD 0A; glycogen storage disease 0, liver; glycogen storage disease type 0a; glycogen storage disease due to glycogen synthase deficiency of liver; glycogen storage disease due to liver glycogen synthase deficiency; glycogen synthase deficiency; GSD due to hepatic glycogen synthase deficiency; liver glycogen storage disease due to glycogen synthase deficiency; GSD type 0a; glycogenosis type 0a; glycogen storage disease due to hepatic glycogen synthase deficiency
• Definition: Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.
• Disease Hierarchy:
  DISYGNOB: Disorder of glycogen metabolism
  DISLV8CK: Glycogen storage disorder due to hepatic glycogen synthase deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0009414
  MESH ID: C565485
  UMLS CUI: C1855861
  OMIM ID: 240600
  MedGen ID: 343430
  Orphanet ID: 2089

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
GYS2	OTCKIUYR	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.