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GENATLAS PHENOTYPE

last update : 22/08/2006

Symbol	NAGA
Location	22q13.2
Name	NAGA deficiency
Other name(s)	Schindler type II, lysosomal glycoamino acid storage disease . Seitelberger disease, type II . Kanzaki disease
Corresponding gene	NAGA
related resource	Schindlerdisease
Main clinical features	presenting as angiokeratoma corporis diffusum with glycopeptiduria (Kanzaki disease), also presenting a non disease and a very heterogeneous group of patient with various degrees of epilepsy/behavioral difficulties/mental retardation and a mild phenotype in adult without over neurological modifications
Genetic determination	autosomal dominant
Function/system disorder	metabolism/lysosomal
Type	disease

Gene product

Name	acetylgalactosaminidase, alpha-N (NAGA) and putative other factors or genes