Glycogen Storage Disease Viii

Glycogen Storage Disease Viii(来自ICD-11)
别称:
Glycogen Storage Disease Type Viii
Glycogen Storage Disease 8
Glycogenosis Type Viii
Hepatic Glycogen Phosphorylase Kinase Deficiency
Glycogen Storage Disease, Type Ix
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycogen Storage Disease Viii, also known as glycogen storage disease type viii, is related to glycogen storage disease ixa1 and phosphorylase kinase deficiency. An important gene associated with Glycogen Storage Disease Viii is PHKA2 (Phosphorylase Kinase Regulatory Subunit Alpha 2), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Digestion and absorption. Affiliated tissues include liver and skeletal muscle.
查看原文 参与反馈
相关ID:
MESH:D006015

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
--
Unknown
--
5
20
35

疾病表征

#
分类
表征
HPO概率
Orphanet概率
HPO来源
暂无相关数据

基因 & 突变

#
基因
作用分类
分值
突变数量
暂无相关数据

靶点药物

药物名称
CAS号
研发状态
临床阶段
暂无相关数据

疾病模型

类型
名称
MGI
相关基因
品系来源
文献数量
暂无相关数据

文献报道

标题
PMID
期刊
年代
IF
暂无数据
Wechat
Comparison
Al agent
Tutorials
Back to top