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GENATLAS PHENOTYPE
last update : 07-02-2009
Symbol GSD1A
Location 17q21.31
Name glycogen storage disease, type Ia
Other name(s)
  • von Gierke disease
  • hepatorenal form of glycogen storage disease
  • Corresponding gene G6PC
    Other symbol(s) G6PC
    Main clinical features
  • growth retardation, hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia and hyperuricemia with long term complication including gout, hepatic adenomas, osteoporosis, renal disease and short stature, lethal before adult age in the past
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    Type disease
    Gene product
    Name glucose-6-phosphatase (G6PC)
    Remark(s)