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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
Fragile X-Associated Tremor/ataxia Syndrome (FXTAS)
Alias:
Fragile X Tremor/ataxia Syndrome
Fxtas Syndrome
Fxtas
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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
脆性X相关震颤/共济失调症,也称为脆性X震颤/共济失调症,与脆性X震颤/共济失调症和震颤有关,症状包括共济失调、震颤和肌痛。与脆性X相关震颤/共济失调症有关的重要基因是FMR1(脆性X信使核糖核蛋白1),其相关通路/超级通路包括翻译控制。在该疾病的背景下提到了Eltanolone和Progesterone这两种药物。相关组织包括小脑和大脑,相关表型为共济失调和言语障碍。
Related ID:
MALACARDS:FRG008
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X隐
成年期
1-9/100000
45
444
5
FRG008
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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