OnlineIMD

Glycogen storage disease type 4

(GSD4)
  • Synonym(s)
    • Andersen disease,
    • Glycogen branching enzyme deficiency
  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
    • VMH
  • Gene
    • GBE1 / Glycogen Branching Enzyme
      • 3p12.2
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Glycogen branching enzyme
  • Pathway
    • Glycogen metabolism
  • Disease group(s)
    • 3.4.2 Mixed/generalized glycogenoses
  • Child entries
    • Glycogen storage disease type 4, congenital neuromuscular form
    • Glycogen storage disease type 4, fatal perinatal neuromuscular form
    • Glycogen storage disease type 4, childhood combined hepatic and myopathic form
    • Glycogen storage disease type 4, childhood neuromuscular form
    • Glycogen storage disease type 4, progressive hepatic form
    • Glycogen storage disease type 4, non-progressive hepatic form
    • Glycogen storage disease type 4, adult neuromuscular form
    • Adult polyglucosan body disease