Spastic Ataxia, Charlevoix-Saguenay Type (SACS)

Alias:
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Arsacs
Charlevoix-Saguenay Spastic Ataxia
Spax6
Autosomal Recessive Spastic Ataxia Type 6
Spastic Ataxia Charlevoix-Saguenay Type
Spastic Ataxia 6, Autosomal Recessive
Sacs
Ataxia, Spastic, Charlevoix-Saguenay Type
Spastic Ataxia of Charlevoix-Saguenay
Atx/hsp-Sacs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Ataxia, Charlevoix-Saguenay Type, also known as autosomal recessive spastic ataxia of charlevoix-saguenay, is related to neuropathy and spastic ataxia, and has symptoms including muscle spasticity, urgency of micturition and scanning speech. An important gene associated with Spastic Ataxia, Charlevoix-Saguenay Type is SACS (Sacsin Molecular Chaperone). Affiliated tissues include retina and eye, and related phenotypes are spasticity and abnormal pyramidal sign
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
6-9/10000
6
47
118

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

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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
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