Fragile X-Associated Tremor/ataxia Syndrome (FXTAS)

Alias:
Fragile X Tremor/ataxia Syndrome
Fxtas Syndrome
Fxtas
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Fragile X-Associated Tremor/ataxia Syndrome, also known as fragile x tremor/ataxia syndrome, is related to fragile x tremor/ataxia syndrome and tremor, and has symptoms including ataxia, tremor and myalgia. An important gene associated with Fragile X-Associated Tremor/ataxia Syndrome is FMR1 (Fragile X Messenger Ribonucleoprotein 1), and among its related pathways/superpathways is Translational Control. The drugs Eltanolone and Progesterone have been mentioned in the context of this disorder. Affiliated tissues include cerebellum and brain, and related phenotypes are ataxia and dysarthria
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLR
Adult
1-9/100000
45
444
5

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

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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