Glycogen Storage Disease Iv (GSD4)

糖原贮积症IV型(来自ICD-11)

别称:

Glycogen Storage Disease Type Iv

Andersen Disease

Amylopectinosis

Glycogen Branching Enzyme Deficiency

Gsd Iv

Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

Glycogen Storage Disease, Type Iv

Glycogen Storage Disease Type 4

Glycogenosis Type Iv

Gsd Type Iv

Gsd4

Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency

Glycogenosis Due to Glycogen Branching Enzyme Deficiency

Gsd Due to Glycogen Branching Enzyme Deficiency

Glycogen Storage Disease 4

Brancher Deficiency

Glycogenosis Type 4

Andersen's Disease

Gbe1 Deficiency

Glycogenosis Iv

Gsd Type 4

Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form

Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form

Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form

Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

Gsd Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

Glycogen Storage Disease Type Iv, Childhood Combined Hepatic and Myopathic Form

Gsd Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

Glycogen Storage Disease Type 4, Childhood Combined Hepatic and Myopathic Form

Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

Gsd Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

Gsd Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

Gsd Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form

Glycogenosis Type Iv, Childhood Combined Hepatic and Myopathic Form

Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form

Glycogenosis Type 4, Childhood Combined Hepatic and Myopathic Form

Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form

Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form

Glycogen Storage Disease Type 4, Congenital Neuromuscular Form

Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form

Glycogen Storage Disease Type 4, Childhood Neuromuscular Form

Gbe Deficiency, Childhood Combined Hepatic and Myopathic Form

Glycogen Storage Disease Type 4, Non Progressive Hepatic Form

Glycogen Storage Disease Type Iv, Adult Neuromuscular Form

Glycogen Storage Disease Type Iv, Progressive Hepatic Form

Cirrhosis, Familial, with Deposition of Abnormal Glycogen

Glycogen Storage Disease Type 4, Adult Neuromuscular Form

Gsd Type 4, Childhood Combined Hepatic and Myopathic Form

Glycogen Storage Disease Type 4, Progressive Hepatic Form

Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form

Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form

Gsdiv, Childhood Combined Hepatic and Myopathic Form

Glycogenosis Type Iv, Congenital Neuromuscular Form

Glycogenosis Type Iv, Childhood Neuromuscular Form

Glycogenosis Type 4, Congenital Neuromuscular Form

Gbe Deficiency, Fatal Perinatal Neuromuscular Form

Glycogenosis Type Iv, Non Progressive Hepatic Form

Glycogenosis Type 4, Childhood Neuromuscular Form

Glycogenosis Type 4, Non Progressive Hepatic Form

Deficiency of 1,4-Alpha-Glucan Branching Enzyme

Glycogenosis Type Iv, Adult Neuromuscular Form

Gsd Type 4, Fatal Perinatal Neuromuscular Form

Glycogenosis Type Iv, Progressive Hepatic Form

Branching-Transferase Deficiency Glycogenosis

Glycogenosis Type 4, Adult Neuromuscular Form

Gbe Deficiency, Congenital Neuromuscular Form

Glycogenosis Type 4, Progressive Hepatic Form

Gbe Deficiency, Childhood Neuromuscular Form

Gbe Deficiency, Non Progressive Hepatic Form

Gsd Type 4, Congenital Neuromuscular Form

Gsdiv, Fatal Perinatal Neuromuscular Form

Gsd Type 4, Childhood Neuromuscular Form

Gbe Deficiency, Adult Neuromuscular Form

Gsd Type 4, Non Progressive Hepatic Form

Gbe Deficiency, Progressive Hepatic Form

Gsd Type 4, Adult Neuromuscular Form

Gsdiv, Congenital Neuromuscular Form

Gsd Type 4, Progressive Hepatic Form

Gsdiv, Childhood Neuromuscular Form

Gsdiv, Non Progressive Hepatic Form

Storage Disease, Glycogen, Type Iv

Brancher Deficiency Glycogenosis

Gsdiv, Adult Neuromuscular Form

Gsdiv, Progressive Hepatic Form

Branching Enzyme Deficiency

Andersen Glycogenosis

Glycogenosis, Type Iv

Type Iv Glycogenosis

Glycogenosis 4

Gsd-Iv

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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IV，又称糖原贮积病IV型，与伴有或不伴有免疫缺陷的多糖体肌病1和糖原贮积病III有关，症状包括肝脾肿大和肌肉无力。与糖原贮积病IV有关的重要基因是GBE1（1,4-α-葡萄糖分支酶1），其相关通路/超级通路包括信号转导和氨基葡萄糖糖苷酶代谢。药物Pharmaceutical Solutions已在该疾病的背景下被提及。相关组织包括肝脏和心脏，相关表型为肝大和皮肤的普遍异常。

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