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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 Syndrome (FXS)
Alias:
Martin-Bell Syndrome
Fraxa Syndrome
Fxs
Marker X Syndrome
X-Linked Mental Retardation and Macroorchidism
Fragile X Mental Retardation Syndrome
Frax Syndrome
Fraxe
Symptomatic Form of Fragile X Syndrome in Female Carriers
Mental Retardation, X-Linked, Associated with Marxq28
Fragile-X Syndrome
Fraxe Syndrome
Fra Syndrome
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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综合症,又称马丁-贝尔综合症,与fraxe智力障碍和脆性X震颤/共济失调综合症有关,症状包括癫痫发作和焦虑。与脆性X综合症有关的重要基因是FMR1(脆性X信使核糖核酸1),其相关通路/超级通路包括神经科学和翻译控制。在该疾病的背景下提到了洛伐他汀和利鲁唑。附属组织包括眼睛和大脑,相关表型包括慢性中耳炎和巨睾症。
Related ID:
MALACARDS:FRG001
OMIM:300624
MESH:D005600
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X隐
新生儿
1-5/10000
139
1622
202
FRG001
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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