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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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

沙霍夫病，又称半乳糖胺酶a和b缺乏症，与神经节苷脂病和gm2神经节苷脂病，ab变种有关。与沙霍夫病相关的重要基因是HEXB（半乳糖胺酶亚基β），其相关通路/超级通路包括代谢和糖基化疾病。在该疾病的背景下提到了药物米格卢斯塔特和糖苷水解抑制剂。附属组织包括脊髓和眼睛，相关表型为β-半乳糖胺酶活性降低和巨脑。

Related ID：

MALACARDS：SND001

OMIM：268800

MESH：D012497