OnlineIMD

Serine palmitoyltransferase deficiency

  • Synonym(s)
    • Hereditary sensory and autonomic neuropathy type 1
  • Type
    Disease
  • External link(s)
    • Orphanet
  • Associated genes
    Gene list
    • SPTLC1 Serine palmitoyltransferase subunit 1 deficiency
    • SPTLC2 Serine palmitoyltransferase subunit 2 deficiency
  • Disease group(s)
    • 14.6    Disorders of sphingolipid synthesis and recycling
  • Child entries
    • Serine palmitoyltransferase subunit 1 deficiency
    • Serine palmitoyltransferase subunit 2 deficiency