Fragile X Syndrome (FXS)

Alias:
Martin-Bell Syndrome
Fraxa Syndrome
Fxs
Marker X Syndrome
X-Linked Mental Retardation and Macroorchidism
Fragile X Mental Retardation Syndrome
Frax Syndrome
Fraxe
Symptomatic Form of Fragile X Syndrome in Female Carriers
Mental Retardation, X-Linked, Associated with Marxq28
Fragile-X Syndrome
Fraxe Syndrome
Fra Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Fragile X Syndrome, also known as martin-bell syndrome, is related to fraxe intellectual disability and fragile x tremor/ataxia syndrome, and has symptoms including seizures and agitation. An important gene associated with Fragile X Syndrome is FMR1 (Fragile X Messenger Ribonucleoprotein 1), and among its related pathways/superpathways are Neuroscience and Translational Control. The drugs Lovastatin and Riluzole have been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related phenotypes are chronic otitis media and macroorchidism
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLR
Newborn
1-5/10000
139
1619
202

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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