Tay-Sachs Disease (TSD)

Tay-Sachs Disease(来自ICD-11)

别称:

Hexosaminidase a Deficiency

Hexa Deficiency

Tsd

Hexosaminidase Alpha-Subunit Deficiency

Gm2-Gangliosidosis, Several Forms

Gm2 Gangliosidosis, B, B1 Variant

Gm2 Gangliosidosis, Type 1

Tay-Sachs Disease Pseudo-Ab Variant

Beta-Hexosaminidase a Deficiency

B Variant Gm2-Gangliosidosis

B Variant Gm2 Gangliosidosis

Gm2-Gangliosidosis B Variant

Tay-Sachs Disease Variant B1

Sphingolipidosis, Tay-Sachs

Gm2-Gangliosidosis, Type I

Gm2 Gangliosidosis, Type I

Hex a Pseudodeficiency

Gm2-Gangliosidosis 1

Gangliosidoses, Gm2

Hexa Disorders

Gm2g1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Tay-Sachs Disease, also known as hexosaminidase a deficiency, is related to gm2-gangliosidosis, ab variant and gm1-gangliosidosis, type i, and has symptoms including back pain, headache and pain. An important gene associated with Tay-Sachs Disease is HEXA (Hexosaminidase Subunit Alpha), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. The drugs Miglustat and Glycoside Hydrolase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and eye, and related phenotypes are muscle weakness and skeletal muscle atrophy

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