Glycogen Storage Disease Xv (GSD15)

Alias:

Glycogen Storage Disease with Severe Cardiomyopathy Due to Glycogenin Deficiency

Glycogen Storage Disease Type Xv

Glycogen Storage Disease 15

Glycogenin Deficiency

Gsd Xv

Gsd15

Glycogenosis with Severe Cardiomyopathy Due to Glycogenin Deficiency

Gsd with Severe Cardiomyopathy Due to Glycogenin Deficiency

Storage Disease, Glycogen, Type Xv

Glycogen Storage Disease Type 15

Glycogenosis Type 15

Glycogenosis Type Xv

Gyg1 Deficiency

Gsd Type 15

Gsd Type Xv

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Glycogen Storage Disease Xv, also known as glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency, is related to polyglucosan body myopathy 2 and glycogen storage disease, and has symptoms including muscle weakness An important gene associated with Glycogen Storage Disease Xv is GYG1 (Glycogenin 1), and among its related pathways/superpathways are Glycogen metabolism and Translation factors. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and heart, and related phenotypes are decreased muscle mass and emg: myopathic abnormalities

Related ID：

MALACARDS：GLY009

OMIM：613507

MESH：D006008