OnlineIMD

Superoxide dismutase 1 deficiency

  • Type
    Disease
  • Gene
    • SOD1 / Superoxide Dismutase 1
      • 21q22.11
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Superoxide dismutase [Cu-Zn]
  • Disease group(s)
    • 13.2    Disorders of reactive oxygen species metabolism
  • Child entries
    • Amyotrophic lateral sclerosis type 1
    • Progressive Spastic Tetraplegia and Axial Hypotonia