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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 2, X-Linked (SPG2)
Alias:
Spg2
Hereditary Spastic Paraplegia 2
Spastic Paraplegia Type 2
Hereditary X-Linked Recessive Spastic Paraplegia
X-Linked Spastic Paraplegia Type 2
Spastic Paraparesis Type 2
Spastic Paraplegia 2
Spastic Gait Type 2
Sppx2
X Linked Recessive Hereditary Spastic Paraplegia
Spastic Paraplegia Type 2, X-Linked
X-Linked Spastic Paraplegia 2
Paraplegia, Spastic, Type 2
Spastic Paraplegia-2
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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2型,X连锁,也称为spg2,与佩利扎尤斯-梅尔扎赫尔病和白质营养不良有关,症状包括共济失调和小脑体征。与遗传性痉挛性截瘫2型,X连锁有关的重要基因是PLP1(蛋白脂蛋白1)。相关组织包括脊髓和眼睛,相关表型为痉挛和高反射。
Related ID:
MALACARDS:SPS133
OMIM:312920
MESH:D015419
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X显
孩童期
<1/1000000
32
202
69
SPS133
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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