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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
Spastic Paraplegia 80, Autosomal Dominant (SPG80)
Alias:
Spg80
Hereditary Spastic Paraplegia 80
Autosomal Dominant Spastic Paraplegia Type 80
Spastic Paraplegia 80 Autosomal Dominant
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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
遗传性痉挛性截瘫80型,常染色体显性,也称为spg80,与遗传性痉挛性截瘫20型,常染色体隐性,和截瘫有关。与遗传性痉挛性截瘫80型,常染色体显性相关的基因是UBAP1(泛素结合蛋白1),其相关通路/超级通路包括细胞骨架信号传导和HIV病毒粒子的芽生和成熟。相关表型包括下肢高反射和巴宾斯基征。
Related ID:
MALACARDS:SPS232
OMIM:618418
MESH:D015419
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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13
54
3
SPS232
Medical Symptom
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Categorization
Description
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Orphanet Frequency
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No data available
Gene & Mutation
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Name
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No data available
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Name
MGI
Related Gene
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Publications
No data available
References Literature
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No Data Found!
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