" /> Tyrosinemia, type II - CISMeF





Preferred Label : Tyrosinemia, type II;

Symbol : TYRSN2;

CISMeF acronym : TYRSN2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tyrosine transaminase deficiency; Tyrosine aminotransferase deficiency; Richner-hanhart syndrome; Tyrosinosis, oculocutaneous type; Tat deficiency; Keratosis palmoplantaris with corneal dystrophy; Oregon type tyrosinemia;

Description : Tyrosinemia type II is an autosomal recessive disorder characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. The disorder is caused by deficiency of hepatic tyrosine aminotransferase (Natt et al., 1992).;

Inheritance : Autosomal recessive;

Prefixed ID : #276600;

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28/07/2025


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