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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
Alexander Disease (ALXDRD)
Alias:
Alexander's Disease
Axd
Alxdrd
Fibrinoid Degeneration of Astrocytes
Leukodystrophy with Rosenthal Fibers
Dysmyelinogenic Leukodystrophy
Demyelinogenic Leukodystrophy
Alexander's Leukodystrophy
Alexander Disease Type Ii
Alexanders Leukodystrophy
Alexander Disease Type I
Alexanders Disease
Axd Type Ii
Axd Type I
Alx
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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
Alexander病,又名Alexander病,与白质营养不良和多系统萎缩1有关,症状包括肌肉痉挛和癫痫发作。与Alexander病有关的重要基因是GFAP(胶质纤维酸性蛋白),其相关通路/超级通路包括COPI独立的高尔基体至内质网逆行交通和GDNF信号通路。药物甲硝唑已在该疾病的背景下被提及。附属组织包括脊髓和大脑,相关表型为巨脑和智力障碍
Related ID:
MALACARDS:ALX003
OMIM:203450
MESH:D038261
ICD11:2023359698
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
32
361
95
ALX003
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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