Sandhoff Disease
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.
Year introduced: 1979
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Tree 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, C18.452.584.563.641.803.350.300.700, 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
MeSH Unique ID: D012497
Entry Terms:
- 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
- Total Hexosaminidase Deficiency
- Deficiency, Total Hexosaminidase
- Hexosaminidase Deficiency, Total
- Total Hexosaminidase Deficiencies
- beta-Hexosaminidase-beta-Subunit Deficiency
- Deficiency, beta-Hexosaminidase-beta-Subunit
- beta Hexosaminidase beta Subunit Deficiency
- beta-Hexosaminidase-beta-Subunit Deficiencies
- Juvenile Sandhoff Disease
- Sandhoff Disease, Juvenile Type
- Sandhoff Disease, Juvenile
- Adult Sandhoff Disease
- Sandhoff Disease, Adult Type
- Sandhoff Disease, Adult
- Infantile Sandhoff Disease
- Sandhoff Disease, Infantile
- Sandhoff Disease, Infantile Type
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