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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
非罕见病
Alexia
Alias:
Dyslexia, Acquired
Dyslexia
Acquired Dyslexia
Aphemesthaesia
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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
Alexia,又称为阅读障碍,是一种获得性的,与进行性非流利失语症、肌营养不良症伴 Paget 病和额颞叶痴呆症有关的疾病,其症状包括扫描性言语和无表情。与 Alexia 有关的重要基因是 CBS(半胱氨酸-β-合成酶),其相关通路/超级通路包括受体酪氨酸激酶信号传导、阿尔茨海默病和 miRNA 效应。Levodopa 和 Dopamine 这两种药物在该疾病的背景下被提及。相关组织包括大脑和皮层,相关表型为神经系统和稳态/新陈代谢。
Related ID:
MALACARDS:ALX001
MESH:D004410
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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13
369
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ALX001
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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