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Tyrosinemia type II

rare

Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.

Identifiers
MONDO:0010160 OMIM:276600Orphanet:28378
Causal genes
TAT
Part of
Eye disorderFocal palmoplantar keratodermaTyrosinemia
Also known as
keratosis palmoplantaris-corneal dystrophy syndrome · oculocutaneous tyrosinemia · Richner Hanhart syndrome · Richner-Hanhart syndrome · tyrosinemia due to TAT deficiency

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