Glycogen Storage Disease X (GSD10)

Glycogen Storage Disease X(来自ICD-11)
别称:
Myopathy Due to Phosphoglycerate Mutase Deficiency
Muscle Phosphoglycerate Mutase Deficiency
Glycogen Storage Disease Type X
Pgamm Deficiency
Gsd10
Gsd X
Glycogen Storage Disease Due to Phosphoglycerate Mutase Deficiency
Glycogenosis Due to Phosphoglycerate Mutase Deficiency
Gsd Due to Phosphoglycerate Mutase Deficiency
Gsd Type 10
Phosphoglycerate Mutase, Muscle, Deficiency of
Phosphoglycerate Mutase Deficiency
Deficiency Mutase Phosphoglycerate
Storage Disease, Glycogen, Type X
Glycogen Storage Disease 10
Pgam Deficiency
Gsdx
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycogen Storage Disease X, also known as myopathy due to phosphoglycerate mutase deficiency, is related to glycogen storage disease v and glycogen storage disease vii, and has symptoms including myalgia An important gene associated with Glycogen Storage Disease X is PGAM2 (Phosphoglycerate Mutase 2). The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include kidney and eye, and related phenotypes are myopathy and renal insufficiency
查看原文 参与反馈
相关ID:

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
AR
Unknown
<1/1000000
2
9
17

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