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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
Polyneuropathy
Alias:
Polyneuropathies
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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
多发性神经病,也称为多发性神经病,与淀粉样变性、遗传性、甲状腺结合球蛋白相关性和慢性炎症性脱髓鞘多发性神经病有关,症状包括神经痛。与多发性神经病有关的重要基因是GDAP1(神经节苷脂诱导分化相关蛋白1),其相关通路/超级通路包括导向线索和生长锥运动以及EGR2和SOX10介导的施万细胞髓鞘化启动。在该疾病的背景下提到了药物阿米替林和辣椒素。附属组织包括脊髓和肝脏,相关表型为神经系统和稳态/代谢。
Related ID:
MALACARDS:PLY019
MESH:D011115
ICD11:1691058302
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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75
601
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PLY019
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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