Pompe Disease

About the Disease
Glycogen Storage Disease Ii, also known as pompe disease, is related to danon disease and atrial standstill 1, 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, liver and lung, and related phenotypes are oligosacchariduria and progressive proximal muscle weakness

Common Targets
Glucosidase (nonspecified subtype) | UGCG | HADHA | Chaperone (nonspecified subtype) | ADRB2 | MPG | GAA | SLC5A4 | PHKB | GYS1 | ACE | CD63 | G2475 | ND5 | CD79B | PIK3CA | GALC | GLA | Phosphatidylinositol 3-kinase (PI3K) (nonspecified subtype) | TFRC | FCGR2B | AMPD1

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