Schindler Disease, Type I (SCHIND)

Alias:

Alpha-N-Acetylgalactosaminidase Deficiency Type 1

Alpha-N-Acetylgalactosaminidase Deficiency Type 3

Schindler Disease Type 1

Schindler Disease Type 3

Naga Deficiency Type 1

Naga Deficiency Type 3

Alpha-N-Acetylgalactosaminidase Deficiency, Type I

Neuroaxonal Dystrophy, Schindler Type

Schindler Disease, Type Iii

Schindler Disease, Type 1

Naga Deficiency, Type I

Schindler Disease

Schind

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Schindler Disease, Type I, also known as alpha-n-acetylgalactosaminidase deficiency type 1, is related to kanzaki disease and neuroaxonal dystrophy, and has symptoms including muscle spasticity, myoclonus and seizures. An important gene associated with Schindler Disease, Type I is NAGA (Alpha-N-Acetylgalactosaminidase), and among its related pathways/superpathways are Apoptosis and Autophagy and p75(NTR)-mediated signaling. Affiliated tissues include eye and spinal cord, and related phenotypes are intellectual disability and seizure

Related ID：

MALACARDS：SCH069

OMIM：609241