糖原贮积症1a型_糖原贮积症1a型疾病数据库_糖原贮积症1a型疾病表征

Glycogen Storage Disease Ia (GSD1A)

糖原贮积症1a型(来自ICD-11)

别称:

Glycogen Storage Disease Type I

Von Gierke Disease

Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ia

Glycogen Storage Disease I

Hepatorenal Form of Glycogen Storage Disease

Hepatorenal Glycogenosis

Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type 1a

Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type Ia

Glycogen Storage Disease Due to G6p Deficiency Type Ia

Glucose-6-Phosphate Transport Defect

Gsd Due to G6p Deficiency Type 1a

Gsd Due to G6p Deficiency Type Ia

Glucose-6-Phosphatase Deficiency

Glycogen Storage Disease Type 1a

Glycogen Storage Disease, Type I

G6p Deficiency Type 1a

Von Gierke's Disease

Glycogenosis Type Ia

Gsd Type 1a

Gsd1a

Gsdia

Deficiency of Glucose-6-Phosphatase

Storage Disease, Glycogen, Type 1a

Glycogen Storage Disease Type Ia

Glucose-6-Phosphate Deficiency

Glycogen Storage Disease 1a

Glycogen Storage Disease 1

Glycogenosis Type I

Gsd Type I

Gsd Ia

Gsd-Ia

Gsd I

Gsd1

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Ia，也称为糖原贮积病I型，与范可尼-毕克综合症和糖原贮积病V有关，症状包括间歇性腹泻。与糖原贮积病Ia有关的重要基因是G6PC1（葡萄糖-6-磷酸酶催化亚基1），其相关通路/超级通路包括代谢和激活cAMP依赖性PKA。在该疾病的背景下提到了泼尼松和泼尼松醋酸酯。附属组织包括肝脏和肾脏，相关表型为肝大和高脂血症。

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