Glycogen Storage Disease Ixd (GSD9D)

Alias:

Glycogen Storage Disease Due to Muscle Phosphorylase Kinase Deficiency

Glycogenosis Due to Muscle Phosphorylase Kinase Deficiency

Gsd Due to Muscle Phosphorylase Kinase Deficiency

Muscle Phosphorylase Kinase Deficiency

Glycogen Storage Disease Type Ixd

Glycogen Storage Disease Type Ixe

Glycogen Storage Disease Type 9d

Glycogen Storage Disease Type 9e

Glycogenosis Type Ixd

Glycogenosis Type Ixe

Glycogenosis Type 9d

Glycogenosis Type 9e

Gsd Type Ixd

Gsd Type Ixe

Gsd Type 9d

Gsd Type 9e

Gsd Ixd

Gsd9d

Muscle Glycogenosis

Storage Disease, Glycogen, Type Ixd

Muscle Glycogenosis, X-Linked

X-Linked Muscke Glycogenosis

X-Linked Muscle Glycogenosis

Glycogen Storage Disease 9d

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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

肌糖原贮存病Ixd，又名肌肉磷酸酶激酶缺乏引起的糖原贮存病，与糖原贮存病Ixb和糖原贮存病有关，症状包括肌肉无力和运动引起的肌肉痛。与肌糖原贮存病Ixd有关的重要基因是PHKA1（磷酸酶激酶调节亚基α1），其相关通路/超级通路包括cAMP依赖性PKA的代谢和激活。相关组织包括骨骼肌和肝脏，相关表型为低血糖和肌肉糖原含量增加。

Related ID：

MALACARDS：GLY115

OMIM：300559

MESH：D006008