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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
Peripheral Nervous System Disease
Alias:
Peripheral Neuropathy
Peripheral Neuropathy Due to Vitamin Pyridoxine Hyperalimentation
Peripheral Nerve Disorders
Peripheral Nerve Disease
Neuropathy, Peripheral
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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
周围神经系统疾病,也称为周围神经病变,与Charcot-Marie-Tooth病、轴突型2e和感觉周围神经病变有关,症状包括背痛、头痛和神经痛。与周围神经系统疾病相关的重要基因是MFN2(融合蛋白2),其相关通路/超级通路包括tRNA氨基酰化和EGR2和SOX10介导的施万细胞髓鞘形成。在该疾病的背景下提到了罗哌卡因和左布比卡因。附属组织包括脊髓和大脑,相关表型为神经系统和稳态/代谢。
Related ID:
MALACARDS:PRP019
ICD11:378925042
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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343
4646
10
PRP019
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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