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GENATLAS PHENOTYPE

last update : 14-10-2020

Symbol	TATD
Location	16q22.1
Name	tyrosine aminotransferase deficiency
Other name(s)	tyrosinemia oculocutaneous type Richner-Hanhart syndrome oregon type tyrosinemia
Corresponding gene	TAT
Other symbol(s)	TYRSN2
Main clinical features	characterized by palmoplantar keratoderma (hyperkeratosis), ectodermal dysplasia and corneal dystrophy
Genetic determination
Function/system disorder	metabolism/aminoacids
	eye
	dermatology
Type	disease

Gene product

Name	tyrosine aminotransferase (TAT)

Remark(s)