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Orphanet References OMIM Gene GeneReviews HGMD HGNC
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