Glycogen Storage Disease Ii (GSD2)

糖原累积病2型(来自ICD-11)

别称:

Glycogen Storage Disease Type Ii

Acid Maltase Deficiency

Pompe Disease

Gaa Deficiency

Gsd Ii

Acid Alpha-Glucosidase Deficiency

Glycogen Storage Disease, Type Ii

Alpha-1,4-Glucosidase Deficiency

Glycogenosis Type Ii

Pompe's Disease

Gsd2

Amd

Glycogen Storage Disease 2

Generalized Glycogen Storage Disease of Infants

Lysosomal Alpha-1,4-Glucosidase Deficiency

Cardiac Form of Generalized Glycogenosis

Glycogenosis, Generalized, Cardiac Form

Glycogenosis Generalized Cardiac Form

Storage Disease, Glycogen, Type Ii

Cardiomegalia Glycogenica Diffusa

Acid Maltase Deficiency Disease

Deficiency of Alpha-Glucosidase

Deficiency of Glucoamylase

Cardiomegalia Glycogenica

Generalized Glycogenosis

Deficiency of Maltase

Glycogenosis, Type 2

Glycogenosis Ii

Gsd-Ii

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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

糖原贮积病II，也称为糖原贮积病II型，与Danon病、肌酸激酶升高和血清升高有关，症状包括呼吸困难和虚弱。与糖原贮积病II相关的基因是GAA（α-葡萄糖苷酶），其相关通路/超级通路包括糖原代谢和mTOR通路。在该疾病的背景下，已经提到了硼替佐米和沙丁胺醇。相关组织包括心脏和肝脏，相关表型为肌肉无力和肌肉糖原含量增加。

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