Details of Disease

General Information of Disease (ID: DISJOJP9)

• Disease Name: Glycogen storage disease IXd
• Synonyms: muscle glycogenosis, X-linked; muscular phosphorylase kinase deficiency; GSD Vb; glycogen storage disease, type IXd; glycogenosis type IXd; glycogenosis type 9D; muscle glycogenosis, X-linked recessive; PHKA1-related glycogen storage disease type IX; GSD type 9D; GSD due to muscle phosphorylase kinase deficiency; GSD9D; glycogen storage disease type 9D; glycogen storage disease caused by mutation in PHKA1; glycogen storage disease type IXd; glycogen storage disease due to muscle phosphorylase kinase deficiency; muscle phosphorylase kinase deficiency; GSD type IXd; GSD IXd; PHKA1 glycogen storage disease; glycogenosis due to muscle phosphorylase kinase deficiency
• Definition: A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness.
• Disease Hierarchy:
  DISYGNOB: Disorder of glycogen metabolism
  DISJOJP9: Glycogen storage disease IXd
• Disease Identifiers:
  MONDO ID: MONDO_0010362
  MESH ID: C564485
  UMLS CUI: C1845151
  OMIM ID: 300559
  MedGen ID: 335112
  Orphanet ID: 715
  SNOMED CT ID: 819953000

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
PHKA1	OTLPQCRF	Strong	X-linked	[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.