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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 42, Autosomal Dominant (SPG42)
Alias:
Hereditary Spastic Paraplegia 42
Spg42
Autosomal Dominant Spastic Paraplegia Type 42
Paraplegia, Spastic, Type 42, Autosomal Dominant
Autosomal Dominant Spastic Paraplegia 42
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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42型,常染色体显性,也称为遗传性痉挛性截瘫42型,与痉挛和常染色体显性痉挛性截瘫4有关。与遗传性痉挛性截瘫42型,常染色体显性相关的重要的基因是SLC33A1(溶质载体家族33成员1)。相关组织包括脊髓和骨骼肌,相关表型为高反射和巴宾斯基征
Related ID:
MALACARDS:SPS099
OMIM:612539
MESH:D015419
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
<1/1000000
20
112
4
SPS099
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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