Details of Disease

General Information of Disease (ID: DISNBY0U)

• Disease Name: Glycogen storage disease IXa1
• Synonyms: GSD VIII; GSD9A1; GSD VIII, formerly; glycogenosis type 8; PYKL; phosphorylase kinase deficiency of liver; glycogen storage disease 8; liver glycogenosis, X-linked, type 1; hepatic phosphorylase kinase deficiency; glycogen storage disease VIII, formerly; glycogen storage disease IXa; PHKA2 glycogen storage disease; glycogen storage disease caused by mutation in PHKA2; GSD9A; glycogen storage disease VIII; glycogen storage disease type IXa; glycogenosis type VIII; GSD type 9A; glycogen storage disease type VIII; glycogenosis type IXa; glycogenosis type 9A; GSD type IXa; hepatic glycogen phosphorylase kinase deficiency; glycogen storage disease, type IXa1, X-linked recessive; PHKA2-related glycogen storage disease type IX; glycogen storage disease type 9A; glycogen storage disease IXa1; glycogen storage disease, type IXa2, X-linked recessive
• Definition: Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes.
• Disease Hierarchy:
  DISTTAS6: Glycogen storage disease due to liver phosphorylase kinase deficiency
  DISYGNOB: Disorder of glycogen metabolism
  DISNBY0U: Glycogen storage disease IXa1
• Disease Identifiers:
  MONDO ID: MONDO_0010598
  UMLS CUI: C3694531
  OMIM ID: 306000
  MedGen ID: 854172

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
PHKA2	OTJE1KXL	Definitive	X-linked	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.