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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
Leukoencephalopathy, Cystic, Without Megalencephaly (LCWM)
Alias:
Cystic Leukoencephalopathy Without Megalencephaly
Rnaset2-Deficient Cystic Leukoencephalopathy
Clwm
Infantile-Onset Rnaset2 Deficient Cystic Leukoencephalopathy
Lcwm
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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
白质海绵状脑病,无巨脑型,又称无巨脑型囊性白质海绵状脑病,与核糖核酸酶T2缺乏性白质海绵状脑病和巨脑型有关。与白质海绵状脑病,无巨脑型相关的基因是RNASET2(核糖核酸酶T2),其相关通路/超级通路包括核酸代谢通路和先天性免疫感知通路。附属组织包括颞叶和大脑,相关表型为眼震和共济失调。
Related ID:
MALACARDS:LKN008
OMIM:612951
MESH:D056784
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
10
31
4
LKN008
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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