An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.

Descriptor ID	D012497
MeSH Number(s)	C10.228.140.163.100.435.825.300.300.249 C16.320.565.189.435.825.300.300.249 C16.320.565.398.641.803.350.300.700 C16.320.565.595.554.825.300.300.800 C18.452.132.100.435.825.300.300.249 C18.452.584.687.803.350.300.700 C18.452.648.189.435.825.300.300.249 C18.452.648.398.641.803.350.300.700 C18.452.648.595.554.825.300.300.800
Concept/Terms	Sandhoff Disease Sandhoff Disease Deficiency Disease, Hexosaminidase A and B Gangliosidosis G(M2), Type II Gangliosidosis GM2, Type II GM2-Gangliosidosis, Type II GM2-Gangliosidoses, Type II Type II GM2-Gangliosidoses Type II GM2-Gangliosidosis GM2 Gangliosidosis, Type II Hexosaminidase A and B Deficiency Disease Hexosaminidases A And B Deficiency Sandhoff's Disease Sandhoffs Disease Sandhoff-Jatzkewitz-Pilz Disease Disease, Sandhoff-Jatzkewitz-Pilz Sandhoff Jatzkewitz Pilz Disease G(M2) Gangliosidosis, Type II GM2 Gangliosidosis, Type 2 Infantile Sandhoff Disease Infantile Sandhoff Disease Sandhoff Disease, Infantile Total Hexosaminidase Deficiency Total Hexosaminidase Deficiency Deficiencies, Total Hexosaminidase Deficiency, Total Hexosaminidase Hexosaminidase Deficiencies, Total Hexosaminidase Deficiency, Total Total Hexosaminidase Deficiencies beta-Hexosaminidase-beta-Subunit Deficiency Deficiencies, beta-Hexosaminidase-beta-Subunit Deficiency, beta-Hexosaminidase-beta-Subunit beta Hexosaminidase beta Subunit Deficiency beta-Hexosaminidase-beta-Subunit Deficiencies Juvenile Sandhoff Disease Juvenile Sandhoff Disease Sandhoff Disease, Juvenile Adult Sandhoff Disease Adult Sandhoff Disease Sandhoff Disease, Adult

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