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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ataxia-Telangiectasia, also known as ataxia telangiectasia, is related to nijmegen breakage syndrome and telangiectasis, and has symptoms including back pain, cerebellar ataxia and headache. An important gene associated with Ataxia-Telangiectasia is ATM (ATM Serine/Threonine Kinase), and among its related pathways/superpathways are Gene expression (Transcription) and Infectious disease. The drugs Clonidine and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are abnormality of eye movement and nystagmus
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
1-5/10000
76
1196
680

Medical Symptom

#
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

Name
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
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