OnlineIMD

KCNJ11-related disease

  • Synonym(s)
    • ATP-sensitive potassium channel pore-forming subunit disease
  • Type
    Disease
  • Gene
    • KCNJ11 / Potassium Inwardly Rectifying Channel Subfamily J Member 11
      • 11p15.1
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Potassium channel protein Kir6.2
  • Parent entry
    • KATP channel-related disease
  • Child entries
    • KCNJ11-related hyperinsulinisum
    • KCNJ11-related hyperinsulinisum, autosomal dominant
    • KCNJ11-related hyperinsulinisum, autosomal recessive
    • KCNJ11-related hyperinsulinisum, focal form
    • KCNJ11-related neonatal diabetes without neurologic features
    • KCNJ11-related developmental delay, epilepsy and neonatal diabetes
    • KCNJ11-related maturity-onset diabetes of the young