OnlineIMD

Tyrosinase deficiency

  • Synonym(s)
    • Oculocutaneous albinism type 1
  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • TYR / Tyrosinase
      • 11q14.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Tyrosinase
  • Pathway
    • Phenylalanine and tyrosine metabolism
  • Disease group(s)
    • 1.4        Disorders of phenylalanine and tyrosine metabolism
  • Child entries
    • Oculocutaneous albinism type 1A
    • Oculocutaneous albinism type 1B
    • Minimal pigment oculocutaneous albinism type 1
    • Temperature-sensitive oculocutaneous albinism type 1
    • Waardenburg syndrome type 2