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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 4 (SPG4)
Alias:
Spastic Paraplegia Type 4
Spg4
Spastic Paraplegia 4, Autosomal Dominant
Spast-Hsp
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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
4型痉挛性截瘫,又称4型痉挛性截瘫,与4型痉挛性截瘫、常染色体显性遗传性痉挛性截瘫有关,症状包括腰痛、尿急和焦虑。与4型痉挛性截瘫有关的重要基因是SPAST(Spastin)。相关组织包括脊髓和大脑。
Related ID:
MALACARDS:SPS091
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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1
9
62
SPS091
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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