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GENATLAS PHENOTYPE

last update : 20-05-2009

Symbol	OATD
Location	10q26.13
Name	hyperornithinemia with ornithine aminotransferase deficiency
Other name(s)	ornithine aminotransferase deficiency hyperornithinaemia with gyrate atrophy of choroid and retina
Corresponding gene	OAT
Other symbol(s)	GACR, HOGA
Main clinical features	gyrate atrophy (GA) of the choroid and retina with hyperornithinaemia , due to a mitochondrial enzymatic deficiency in ornithine-amino-transferase, and in any cases myopathy with tubular aggregates (Fleury 2007)
Genetic determination	autosomal recessive
Function/system disorder	metabolism/aminoacids
	eye
	neurology
Type	disease

Gene product

Name	ornithine aminotransferase (OAT)

Remark(s)