Glycogen Storage Disease Type 1a
Glycogen Storage Disease Type 1a
About the Disease
Glycogen Storage Disease Ia, also known as glycogen storage disease type i, is related to fanconi-bickel syndrome and glycogen storage disease v, and has symptoms including intermittent diarrhea An important gene associated with Glycogen Storage Disease Ia is G6PC1 (Glucose-6-Phosphatase Catalytic Subunit 1), and among its related pathways/superpathways are Metabolism and Diseases of glycosylation. The drugs Prednisolone phosphate and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and skin, and related phenotypes are hepatomegaly and hyperuricemia
Common Targets
G6PC1

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Primary Progressive Aphasia | Familial Exudative Vitreoretinopathy | Hypoglycemia | Dwarfism | Acute Lymphocytic Leukemia | Nanophthalmos | Retinal Degeneration | Sarcomatoid Carcinoma Of The Lung | Fucosidosis | Diffuse Intrinsic Pontine Glioma | Polycythemia | Ophthalmia, Sympathetic | Desbuquois Syndrome | Combined Malonic And Methylmalonic Acidemia | Bicuspid Aortic Valve | Kernicterus | Retinal Dystrophy | Hepatorenal Syndrome | Polycystic Kidney, Autosomal Dominant | Hypoproteinemia, Hypercatabolic | Bacterial Meningitis | Proctitis | Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 | Liddle Syndrome | GAPO Syndrome | Bardet-Biedl Syndrome | Episodic Ataxia | Congenital Dyserythropoietic Anemia | Blood Protein Disorders | Dubin-Johnson Syndrome | Cranial Nerve Disease | REM Sleep Behavior Disorder | Dupuytren Disease | Conn Syndrome | Hepatic Veno-occlusive Disease | Craniofacial Dysostosis | Gyrate Atrophy Of The Choroid And Retina | Peters-plus Syndrome | 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