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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
Spinocerebellar Ataxia, X-Linked 3 (SCAX3)
Alias:
Scax3
X-Linked Spinocerebellar Ataxia Type 3
X-Linked Ataxia-Deafness Syndrome
X-Linked Ataxia-Hearing Loss Syndrome
X-Linked Spinocerebellar Ataxia 3
Spinocerebellar Ataxia, X-Linked, 3
Ataxia-Deafness Syndrome, X-Linked
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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
脊髓小脑性共济失调,X连锁3,也称为scax3,与脊髓小脑性共济失调,X连锁5和脊髓小脑性共济失调18有关,症状包括小脑共济失调、嗜睡和癫痫发作。与脊髓小脑性共济失调,X连锁3有关的重要基因是ATP2B3(ATPase Plasma Membrane Ca2+ Transporting 3),其相关通路/超级通路包括CREB通路和对血小板胞质Ca2+升高的反应。相关表型为共济失调和肌张力低下。
Related ID:
MALACARDS:SPN364
OMIM:301790
MESH:C537315
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
15
192
1
SPN364
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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