Friedreich Ataxia (FRDA)

Alias:
Friedreich Ataxia 1
Frda
Friedreich Ataxia with Retained Reflexes
Fa
Frda1
Friedreich's Ataxia
Friedreich Spinocerebellar Ataxia
Hereditary Spinal Ataxia
Friedreich's Tabes
Friedrich's Ataxia
Fa1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Friedreich Ataxia, also known as frda, is related to friedreich ataxia 2 and ataxia with vitamin e deficiency, and has symptoms including ataxia, back pain and headache. An important gene associated with Friedreich Ataxia is FXN (Frataxin), and among its related pathways/superpathways are Glucose / Energy Metabolism and Insulin receptor recycling. The drugs Dopamine and Escitalopram have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and heart, and related phenotypes are gait ataxia and dysarthria
Related ID:
MESH:C565561
ICD11:980686666

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
1-9/100000
74
612
299

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
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IF
No Data Found!
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