Sandhoff Disease (GM2G2)

Alias:

Hexosaminidases a and B Deficiency

Sandhoff Disease, Infantile Form

Sandhoff Disease, Juvenile Form

Sandhoff Disease, Adult Form

Sandhoff Disease, Infantile, Juvenile, and Adult Forms

Total Hexosaminidase Deficiency

Gm2 Gangliosidosis 0 Variant

Hexosaminidases a and B Deficiency, Infantile Form

Hexosaminidases a and B Deficiency, Juvenile Form

Hexosaminidases a and B Deficiency, Adult Form

Beta-Hexosaminidase-Beta-Subunit Deficiency

Hexosaminidase a and B Deficiency Disease

Infantile Gm2 Gangliosidosis 0 Variant

Juvenile Gm2 Gangliosidosis 0 Variant

Adult Gm2 Gangliosidosis 0 Variant

Hexosaminidase a and B Deficiency

Sandhoff-Jatzkewitz-Pilz Disease

Gm2 Gangliosidosis, 0 Variant

Gm2-Gangliosidosis, Type Ii

Sandhoff Jatzkewitz Disease

Gm2 Gangliosidosis, Type Ii

Type Ii Gm2 Gangliosidosis

Gm2 Gangliosidosis, Type 2

Gm2-Gangliosidosis 2

Gm2g2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Sandhoff Disease, also known as hexosaminidases a and b deficiency, is related to gangliosidoses and gm2-gangliosidosis, ab variant. An important gene associated with Sandhoff Disease is HEXB (Hexosaminidase Subunit Beta), and among its related pathways/superpathways are Metabolism and Diseases of glycosylation. 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 reduced beta-hexosaminidase activity and macrocephaly

Related ID：

MALACARDS：SND001

OMIM：268800

MESH：D012497