Glycogen Storage Disease Ii (GSD2)

Alias:

Glycogen Storage Disease Type Ii

Acid Maltase Deficiency

Pompe Disease

Gaa Deficiency

Gsd Ii

Acid Alpha-Glucosidase Deficiency

Glycogen Storage Disease, Type Ii

Alpha-1,4-Glucosidase Deficiency

Glycogenosis Type Ii

Pompe's Disease

Gsd2

Amd

Glycogen Storage Disease 2

Generalized Glycogen Storage Disease of Infants

Lysosomal Alpha-1,4-Glucosidase Deficiency

Cardiac Form of Generalized Glycogenosis

Glycogenosis, Generalized, Cardiac Form

Glycogenosis Generalized Cardiac Form

Storage Disease, Glycogen, Type Ii

Cardiomegalia Glycogenica Diffusa

Acid Maltase Deficiency Disease

Deficiency of Alpha-Glucosidase

Deficiency of Glucoamylase

Cardiomegalia Glycogenica

Generalized Glycogenosis

Deficiency of Maltase

Glycogenosis, Type 2

Glycogenosis Ii

Gsd-Ii

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Glycogen Storage Disease Ii, also known as glycogen storage disease type ii, is related to danon disease and creatine phosphokinase, elevated serum, and has symptoms including dyspnea and weakness. An important gene associated with Glycogen Storage Disease Ii is GAA (Alpha Glucosidase), and among its related pathways/superpathways are Glycogen metabolism and mTOR Pathway. The drugs Bortezomib and Salbutamol have been mentioned in the context of this disorder. Affiliated tissues include heart and liver, and related phenotypes are muscle weakness and increased muscle glycogen content

Related ID：

MALACARDS：GLY008

OMIM：232300

MESH：D006009