Schindler Disease

Schindler Disease(来自ICD-11)

别称:

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

加入收藏

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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

查看原文参与反馈