Spinocerebellar Ataxia 34 (SCA34)

Alias:
Erythrokeratodermia with Ataxia
Spinocerebellar Ataxia Type 34
Sca34
Spinocerebellar Ataxia and Erythrokeratodermia
Erythrokeratodermia Ataxia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spinocerebellar Ataxia 34, also known as erythrokeratodermia with ataxia, is related to autosomal dominant cerebellar ataxia and erythrokeratodermia variabilis et progressiva 1, and has symptoms including ataxia, dysdiadochokinesis and gait ataxia. An important gene associated with Spinocerebellar Ataxia 34 is ELOVL4 (ELOVL Fatty Acid Elongase 4), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. Affiliated tissues include skin and spinal cord, and related phenotypes are nystagmus and dysarthria
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
8
48
3

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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