Spinocerebellar Ataxia, Autosomal Recessive 17 (SCAR17)

Alias:
Autosomal Recessive Spinocerebellar Ataxia 17
Scar17
Autosomal Recessive Cerebellar Ataxia Due to Cwf19l1 Deficiency
Ataxia, Spinocerebellar, Autosomal Recessive, Type 17
Spinocerebellar Ataxia Autosomal Recessive Type 17
Spinocerebellar Ataxia, Autosomal Recessive, 17
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spinocerebellar Ataxia, Autosomal Recessive 17, also known as autosomal recessive spinocerebellar ataxia 17, is related to aceruloplasminemia and hereditary ataxia, and has symptoms including tremor and ataxia, truncal. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 17 is CWF19L1 (CWF19 Like Cell Cycle Control Factor 1), and among its related pathways/superpathways are NFAT and Cardiac Hypertrophy and CCR5 Pathway in Macrophages. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are dysarthria and global developmental delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
13
134
4

Medical Symptom

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Description
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Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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IF
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