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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
Spastic Paraplegia 79a, Autosomal Dominant, with Ataxia (SPG79A)
Alias:
Spg79a
Spastic Paraplegia 79a, 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79a伴共济失调,又名spg79a,与遗传性痉挛性截瘫79a和帕金森病,晚发性有关。与遗传性痉挛性截瘫79a伴共济失调相关的重要基因是UCHL1(泛素C端水解酶L1)。相关组织包括大脑,相关表型为步态共济失调和振动感觉障碍。
Related ID:
MALACARDS:SPS251
OMIM:620221
MESH:D015418
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
11
1
SPS251
Medical Symptom
#
Categorization
Description
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Orphanet Frequency
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No data available
Gene & Mutation
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No data available
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Name
MGI
Related Gene
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No data available
References Literature
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No Data Found!
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