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autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production; accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly; increased concentrations of lactic acid and hyperlipidemia appear in the plasma; clinical gout often appears in early childhood.

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Data Correlations | 1 study

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Genes category icon Genes
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G6PC 100 100
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Biogroups category icon Biogroups
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Galactose Metabolism 100 100
Starch and Sucrose Metabolism 98 98
Glycolysis and Gluconeogenesis 97 97
Adipocytokine Signaling Pathway 97 97
Insulin Signaling Pathway 97 97
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Individual Studies

  • Mouse Phenotypes - Congenital anomaly of abdomen

    Mus musculus Mus musculus | Mutations/Phenotypic   Mutations/Phenotypic

    This study contains curated mouse gene mutation data extracted from the Mouse Genome Database (MGD) at The Jackson Laboratory, Bar Harbor, Maine. Additional computational processing and curation of mouse phenotype data was performed to further organize and group data from related phenotypes into uni…

    Source: NextBio Library/Mutation and Phenotypic data
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Associated Researchers

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Thought leaders and organizations working on research involving Von Gierke's disease.

View All Author iconAuthors
  • J Y Chou
  • R Parvari
  • S W Moses
  • D Y HSIA
  • H Mandel
View All Affiliations icon Organizations
  • National Institute of Child Health and Human Development
  • Duke University Medical Center
  • China Medical College Hospital
  • University of Michigan Medical Center
  • Baylor College of Medicine

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