OnlineIMD

Saposin deficiency

  • Type
    Disease
  • External link(s)
    • Orphanet
  • Gene
    • PSAP / Prosaposin
      • 10q22.1
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Prosaposin
  • Disease group(s)
    • 20.1    Disorders of sphingolipid degradation
  • Child entries
    • Saposin A deficiency
    • Saposin B deficiency
    • Saposin C deficiency
    • Combined saposin deficiency