Glycogen Storage Disease Viii

Alias:
Glycogen Storage Disease Type Viii
Glycogen Storage Disease 8
Glycogenosis Type Viii
Hepatic Glycogen Phosphorylase Kinase Deficiency
Glycogen Storage Disease, Type Ix
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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VIII,又称糖原贮积病第八型,与糖原贮积病IXA1和磷酸酶激酶缺乏症有关。与糖原贮积病VIII相关的基因是PHKA2(磷酸酶激酶调节亚基α2),其相关通路/超级通路包括氨基多糖代谢和消化和吸收。附属组织包括肝脏和骨骼肌。
Related ID:
MESH:D006015

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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5
20
35

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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