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.
推出的年份: 1979
树号: 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 单一 ID: D012497
进入的组:
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
早前的内容:
G(M2) Ganglioside (1975-1978)
Gangliosides (1966-1978)
Gangliosidosis (1976-1978)
Hexosaminidases (1971-1978)
Lipoidosis (1966-1978)
Sphingolipidosis (1974-1978)
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