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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
Motor Peripheral Neuropathy (HSMN)
Alias:
Peripheral Motor Neuropathy
Hsmn - Hereditary Sensory and Motor Neuropathy
Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathy
Hereditary Sensory and Motor Neuropathy
Neuropathic Muscular Atrophy
Hsmn
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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
运动周围神经病变,也称为周围运动神经病变,与Charcot-Marie-Tooth病、轴突型2a1和Charcot-Marie-Tooth病、轴突型2t有关,症状包括神经症状。与运动周围神经病变有关的重要基因是RNMT(RNA鸟嘌呤-7甲基转移酶),其相关通路/超通路包括参与CMT神经病变的细胞内转运蛋白和EGR2和SOX10介导的Schwann细胞髓鞘化启动。在该疾病的背景下,已提到叶酸和硫辛酸。附属组织包括脊髓和乳腺,相关表型为神经系统和稳态/新陈代谢。
Related ID:
MALACARDS:MTR007
MESH:D015417
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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28
222
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MTR007
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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