Ataxia-Telangiectasia-Like Disorder 1 (ATLD1)

Alias:
Ataxia-Telangiectasia-Like Disorder
Atld1
Atld
Ataxia-Telangiectasia-Like Disorder-1
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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
Ataxia-Telangiectasia-Like Disorder 1(ATLD1), 也被称为 ATLD1,与 ATLD2 和遗传性癌症易感综合征有关,其症状包括失调性二分运动和步态失调。与 ATLD1 相关的重要基因是 MRE11(MRE11 同源物,双链断裂修复核酸酶)。附属组织包括眼睛和小脑,相关表型为共济失调和言语障碍。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
8
17

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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