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:

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

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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