Details of Disease | DrugMAP

General Information of Disease (ID: DISJ8ZS3)

Disease Name	Glycogen storage disease IXc
Synonyms	GSD IXc; GSD type 9C; glycogen storage disease IXc; GSD type IXc; PHKG2 glycogen storage disease; PHKG2-related glycogen storage disease type IX; GSD9C; glycogen storage disease type IXc; glycogen storage disease caused by mutation in PHKG2
Definition	A liver PhK deficiency caused by variants in the PHKG2 gene
Disease Hierarchy	DISTTAS6: Glycogen storage disease due to liver phosphorylase kinase deficiency DISYGNOB: Disorder of glycogen metabolism DISJ8ZS3: Glycogen storage disease IXc
Disease Identifiers	MONDO ID MONDO_0013091 MESH ID C567809 UMLS CUI C2751643 OMIM ID 613027 MedGen ID 442778

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PHKG2	TTI5WS6	Strong	Autosomal recessive	[1]
PHKG2	TTI5WS6	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PHKG2	OTL0KLRP	Strong	Autosomal recessive	[1]
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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.
2	PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature.J Pediatr Endocrinol Metab. 2018 Mar 28;31(3):331-338. doi: 10.1515/jpem-2017-0170.