Glycogen Storage Disease Vii (GSD7)

糖原累积病7型(来自ICD-11)

别称:

Glycogen Storage Disease Type Vii

Tarui Disease

Muscle Phosphofructokinase Deficiency

Glycogen Storage Disease, Type Vii

Glycogen Storage Disease Type 7

Phosphofructokinase Deficiency

Glycogenosis Type Vii

Pfkm Deficiency

Gsd Vii

Gsd7

Glycogen Storage Disease Due to Muscle Phosphofructokinase Deficiency

Glycogenosis Due to Muscle Phosphofructokinase Deficiency

Gsd Due to Muscle Phosphofructokinase Deficiency

Glycogen Storage Disease 7

Glycogenosis Type 7

Gsd Type Vii

Gsd Type 7

Storage Disease, Glycogen, Type Vii

Phosphofructokinase Myopathy

Glycogenosis 7

Gsd-Vii

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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VII，也称为糖原贮积病型VII，与肌红蛋白尿和糖原贮积病有关，症状包括肌肉无力。与糖原贮积病VII有关的重要基因是PFKM（肌肉磷酸果糖激酶），其相关通路/超级通路包括代谢和糖酵解（BioCyc）。该病的药物治疗中提到了Pharmaceutical Solutions。相关组织包括肾脏和心脏，相关表型为贫血和肌张力障碍。

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