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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
Motor Neuron Disease
Alias:
Anterior Horn Cell Disease
Hereditary Motor Neuron Disease
Mnd - [motor Neurone Disease]
Bulbar Motor Neuron Disease
Anterior Horn Cell Disorder
Motor Neuron Diseases
Lou Gehrig Disease
Creeping Paralysis
Bulbar Syndrome
Creeping Palsy
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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
运动神经元病,又称前角细胞病,与肌萎缩侧索硬化1型和额颞叶痴呆/肌萎缩侧索硬化1型有关,症状包括共济失调、肌肉抽搐和偏瘫。与运动神经元病有关的重要基因是SOD1(超氧化物歧化酶1),其相关通路/超通路包括神经科学和肌萎缩侧索硬化(ALS)。在该疾病的背景下,已提到的药物有美西律和大麻二酚。相关组织包括神经管、脊髓和骨髓,相关表型为神经系统和稳态/代谢。
Related ID:
MALACARDS:MTR014
MESH:D016472
ICD11:661720689
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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132
1493
1
MTR014
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Gene & Mutation
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Related Gene
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References Literature
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