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Tyrosinemia type 2

Disease definition

A rare inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.


Classification level: Disorder
  • Synonym(s):
    • Keratosis palmoplantaris-corneal dystrophy syndrome
    • Oculocutaneous tyrosinemia
    • Richner-Hanhart syndrome
    • Tyrosinemia due to TAT deficiency
    • Tyrosinemia due to tyrosine aminotransferase deficiency
    • Tyrosinemia type II
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal, Childhood, Adolescent
  • ICD-10: E70.2
  • ICD-11: 5C50.12
  • OMIM: 276600
  • UMLS: C0268487
  • MeSH: -
  • GARD: 3105
  • MedDRA: 10069463
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