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ENSchindler Disease
Alias:
Alpha-N-Acetylgalactosaminidase Deficiency
Naga Deficiency
Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum
Angiokeratoma Corporis Diffusum-Glycopeptiduria
Neuronal Axonal Dystrophy, Schindler Type
Alpha-Galnac Deficiency, Schindler Type
Neuroaxonal Dystrophy, Schindler Type
Alpha-Galactosidase B Deficiency
Schindler Disease, Type Ii
Schindler Disease, Type I
Alpha-Naga Deficiency
Kanzaki Disease
Galb Deficiency
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Schindler Disease, also known as alpha-n-acetylgalactosaminidase deficiency, is related to kanzaki disease and fucosidosis, and has symptoms including vertigo, dry skin and muscle spasticity. An important gene associated with Schindler Disease is NAGA (Alpha-N-Acetylgalactosaminidase), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. Affiliated tissues include spinal cord and eye, and related phenotypes are intellectual disability and spasticity
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MALACARDS
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