Glycogen Storage Disease Ixd (GSD9D)

Alias:

Glycogen Storage Disease Due to Muscle Phosphorylase Kinase Deficiency

Glycogenosis Due to Muscle Phosphorylase Kinase Deficiency

Gsd Due to Muscle Phosphorylase Kinase Deficiency

Muscle Phosphorylase Kinase Deficiency

Glycogen Storage Disease Type Ixd

Glycogen Storage Disease Type Ixe

Glycogen Storage Disease Type 9d

Glycogen Storage Disease Type 9e

Glycogenosis Type Ixd

Glycogenosis Type Ixe

Glycogenosis Type 9d

Glycogenosis Type 9e

Gsd Type Ixd

Gsd Type Ixe

Gsd Type 9d

Gsd Type 9e

Gsd Ixd

Gsd9d

Muscle Glycogenosis

Storage Disease, Glycogen, Type Ixd

Muscle Glycogenosis, X-Linked

X-Linked Muscke Glycogenosis

X-Linked Muscle Glycogenosis

Glycogen Storage Disease 9d

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Glycogen Storage Disease Ixd, also known as glycogen storage disease due to muscle phosphorylase kinase deficiency, is related to glycogen storage disease ixb and glycogen storage disease, and has symptoms including muscle weakness and exercise-induced myalgia. An important gene associated with Glycogen Storage Disease Ixd is PHKA1 (Phosphorylase Kinase Regulatory Subunit Alpha 1), and among its related pathways/superpathways are Metabolism and Activation of cAMP-Dependent PKA. Affiliated tissues include skeletal muscle and liver, and related phenotypes are hypoglycemia and increased muscle glycogen content

Related ID：

MALACARDS：GLY115

OMIM：300559

MESH：D006008