Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency (XLG)

Alias:

Glycogenosis Due to Liver Phosphorylase Kinase Deficiency

Gsd Due to Liver Phosphorylase Kinase Deficiency

Glycogen Storage Disease Type Ixa

Glycogen Storage Disease Type Ixc

Glycogen Storage Disease Type 9a

Glycogen Storage Disease Type 9c

Glycogenosis Type Ixa

Glycogenosis Type Ixc

Glycogenosis Type 9a

Glycogenosis Type 9c

Gsd Type Ixa

Gsd Type Ixc

Gsd Type 9a

Gsd Type 9c

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency, also known as glycogenosis due to liver phosphorylase kinase deficiency, is related to glycogen storage disease ixa and glycogen storage disease ixc. An important gene associated with Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency is PHKA2 (Phosphorylase Kinase Regulatory Subunit Alpha 2), and among its related pathways/superpathways are ADORA2B mediated anti-inflammatory cytokines production and Glycosaminoglycan metabolism. Affiliated tissues include liver and skeletal muscle, and related phenotypes are hepatomegaly and elevated hepatic transaminase

Related ID：

MALACARDS：GLY065