Mannosidosis, Alpha B, Lysosomal (MANSA)

溶酶体α-甘露糖苷贮积症B型(来自ICD-11)

别称:

Alpha-Mannosidosis

Lysosomal Alpha-D-Mannosidase Deficiency

Deficiency of Alpha-Mannosidase

Alpha-Mannosidase B Deficiency

Mannosidosis

Mannosidosis, Alpha-, Types I and Ii

Alpha-Mannosidase Deficiency

Alpha-D-Mannosidosis

Mansa

Lysosomal Alpha-D-Mannosidase Deficiency, Infantile Form

Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form

Alpha-Mannosidosis, Infantile Form

Alpha-Mannosidosis Types I and Ii

Mannosidase Deficiency Diseases

Lysosomal Alpha B Mannosidosis

Alpha-Mannosidosis, Adult Form

Α-Mannosidosis

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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

甘露糖苷酶αB型，溶酶体型，又称α-甘露糖苷酶病，与甘露糖苷酶βA型，溶酶体型和骨发育不全有关，症状包括肌肉痉挛和步态共济失调。与甘露糖苷酶αB型，溶酶体型相关的基因是MAN2B1（甘露糖苷酶α类2B成员1），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Sorbitol和Glycine这两种药物。相关组织包括骨和眼，相关表型为智力障碍和巨舌。

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