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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
非罕见病
Mononeuropathy
Alias:
Mononeuropathies
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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
单神经病,也称为单神经病,与桡神经病和糖尿病神经病有关,症状包括神经痛。与单神经病相关的重要基因是PMP22(周围髓鞘蛋白22),其相关通路/超级通路包括Toll样受体信号通路和细胞质病原体相关DNA传感器。在该疾病的背景下提到了Pregabalin和抗焦虑药物。附属组织包括脊髓和背根神经节,相关表型为稳态/代谢和心血管系统。
Related ID:
MALACARDS:MNN017
MESH:D020422
ICD11:1866592137
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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22
260
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MNN017
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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