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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Glycogen Storage Disease Iii (GSD3)
Alias:
Glycogen Storage Disease Type Iii
Forbes Disease
Glycogen Storage Disease Iiia
Cori Disease
Amylo-1,6-Glucosidase Deficiency
Glycogen Storage Disease Iiib
Limit Dextrinosis
Gde Deficiency
Glycogen Storage Disease Iiic
Glycogenosis Type Iii
Agl Deficiency
Gsd3
Glycogen Storage Disease Due to Glycogen Debranching Enzyme Deficiency
Glycogenosis Due to Glycogen Debranching Enzyme Deficiency
Gsd Due to Glycogen Debranching Enzyme Deficiency
Glycogen Storage Disease Type 3
Glycogen Debrancher Deficiency
Glycogen Storage Disease Iiid
Glycogen Storage Disease 3
Debrancher Deficiency
Cori-Forbes Disease
Glycogenosis Type 3
Gsd Type 3
Gsdiii
Glycogen Debranching Enzyme Deficiency
Glycogen Debranching Enzyme Deficiency
Storage Disease, Glycogen, Type Iii
Glycogen Storage Disease, Type Iii
Amylo 1,6 Glucosidase Deficiency
Deficiency of Debranching Enzyme
Deficiency of Dextrin
Cori's Disease
Gsd Iiia
Gsd Iiib
Gsd Iiic
Gsd Iiid
Gsd Iii
Gsd-Iii
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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
III型糖原贮积病,也称为III型糖原贮积病,与葡萄糖-6-磷酸酶缺乏和心房停搏1有关。与III型糖原贮积病相关的基因是AGL(α-1,6-葡萄糖苷酶,4-α-葡萄糖苷转移酶),其相关通路/超级通路包括传染病和代谢。在该疾病的背景下提到了布洛芬和对乙酰氨基酚。附属组织包括肝脏和心脏,相关表型为身材矮小和智力障碍,轻度
Related ID:
MALACARDS:GLY003
OMIM:232400
MESH:D006010
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
婴儿期
1-9/100000
15
80
148
GLY003
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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