OnlineIMD

SUR1-related disease

  • Synonym(s)
    • ATP-sensitive potassium channel regulatory subunit disease
  • Type
    Disease
  • Gene
    • ABCC8 / ATP Binding Cassette Subfamily C Member 8
      • 11p15.1
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Sulfonylurea receptor 1
  • Parent entry
    • KATP channel-related disease
  • Child entries
    • SUR1-related hyperinsulinisum
    • SUR1-related hyperinsulinisum, autosomal dominant
    • SUR1-related hyperinsulinisum, autosomal recessive
    • SUR1-related hyperinsulinisum, focal form
    • SUR1-related neonatal diabetes without neurologic features
    • SUR1-related developmental delay, epilepsy and neonatal diabetes
    • SUR1-related maturity-onset diabetes of the young