Ataxia-Telangiectasia (AT)

Alias:
Ataxia Telangiectasia
Louis-Bar Syndrome
Ataxia - Telangiectasia Variant
Ataxia-Telangiectasia Syndrome
At1
at
Telangiectasia, Cerebello-Oculocutaneous
Ataxia Telangiectasia Syndrome
Ataxia-Telangiectasia Variant
Boder-Sedgwick Syndrome
Louis Bar Syndrome
a-T
Atm
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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, 也被称为Ataxia telangiectasia, 与Nijmegen breakage syndrome和telangiectasis有关,症状包括背痛、小脑共济失调和头痛。与Ataxia-Telangiectasia有关的重要基因是ATM (ATM Serine/Threonine Kinase),其相关通路/超级通路包括基因表达(转录)和传染病。在该疾病的背景下提到了Clonidine和Polyestradiol phosphate。附属组织包括皮肤和眼睛,相关表型为眼动异常和眼震。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
婴儿期
1-5/10000
76
1192
680

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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