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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
Pediatric Multiple Sclerosis
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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
儿童多发性硬化症与视神经炎和视神经脊髓炎有关。与儿童多发性硬化症有关的重要基因是HLA-DQB1(主要组织相容性复合物,II类,DQβ1),其相关通路/超级通路包括ARP-WASP复合物介导的肌动蛋白核化和IFN刺激基因介导的抗病毒机制。在该疾病的背景下提到了矿物油和免疫学因素。附属组织包括脊髓和大脑。
Related ID:
MALACARDS:PDT025
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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孩童期
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2
26
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PDT025
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
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No data available
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No Data Found!
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