Glycogen Storage Disease Xv (GSD15)

糖原累积病XV型(来自ICD-11)

别称:

Glycogen Storage Disease with Severe Cardiomyopathy Due to Glycogenin Deficiency

Glycogen Storage Disease Type Xv

Glycogen Storage Disease 15

Glycogenin Deficiency

Gsd Xv

Gsd15

Glycogenosis with Severe Cardiomyopathy Due to Glycogenin Deficiency

Gsd with Severe Cardiomyopathy Due to Glycogenin Deficiency

Storage Disease, Glycogen, Type Xv

Glycogen Storage Disease Type 15

Glycogenosis Type 15

Glycogenosis Type Xv

Gyg1 Deficiency

Gsd Type 15

Gsd Type Xv

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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

Glycogen Storage Disease Xv，也被称为由于糖原素缺乏导致的严重心肌病的糖原储存病，与多糖体肌病2和糖原储存病有关，症状包括肌肉无力。与Glycogen Storage Disease Xv相关的重要基因是GYG1（糖原素1），其相关通路/超级通路包括糖原代谢和翻译因子。药物Pharmaceutical Solutions在这个疾病中被提及。相关组织包括骨骼肌和心脏，相关表型是肌肉质量减少和emg：肌病异常。

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