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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
Autosomal Dominant Distal Hereditary Motor Neuronopathy
Alias:
Autosomal Dominant Distal Hereditary Motor Neuropathy
Autosomal Dominant Distal Spinal Muscular Atrophy
Autosomal Dominant Dhmn
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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
常染色体显性远端遗传性运动神经病,也称为常染色体显性远端遗传性运动神经病,与神经病、远端遗传性运动、常染色体显性5和远端遗传性运动神经病类型1有关。与常染色体显性远端遗传性运动神经病有关的重要基因是BICD2(BICD Cargo Adaptor 2),其相关通路/超级通路包括tRNA氨基酰化和参与CMT神经病的细胞内运输蛋白质。相关表型包括减少的乳头状体形成和肌肉。
Related ID:
MALACARDS:ATS426
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
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Reference
MALACARDS
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未知
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23
133
3
ATS426
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Description
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Orphanet Frequency
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Gene & Mutation
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Name
MGI
Related Gene
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