Gm1 Gangliosidosis

Gm1 Gangliosidosis(来自ICD-11)
别称:
Gangliosidosis Gm1
Beta-Galactosidase Deficiency
Beta-Galactosidase-1 Deficiency
Glb1 Deficiency
Landing Disease
Beta-Galactosidase-1 Deficiency
Deficiency of Beta-Galactosidase
Gangliosidosis, Gm1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
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References Literature
Gm1 Gangliosidosis, also known as gangliosidosis gm1, is related to gm1-gangliosidosis, type i and gm1-gangliosidosis, type iii. An important gene associated with Gm1 Gangliosidosis is GLB1 (Galactosidase Beta 1), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Miglustat and Glycoside Hydrolase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and bone, and related phenotypes are hyperreflexia and nystagmus
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相关ID:
MESH:D016537

基础信息

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参考文献
MALACARDS
AR
Child
1-9/100000
39
271
103

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MGI
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