Spinocerebellar Ataxia 27a (SCA27A)

Alias:

Spinocerebellar Ataxia Type 27

Nystagmus 4, Congenital, Autosomal Dominant

Sca27

Vestibulocerebellar Disorder with Predominant Ocular Signs

Spinocerebellar Ataxia 27

Cerebellar Ataxia, Autosomal Dominant, Fgf14-Related

Sca27a

Nystagmus 4, Congenital, Autosomal Dominant, Formerly

Autosomal Dominant Congenital Nystagmus 4

Ataxia, Spinocerebellar, Type 27

Congenital Nystagmus 4

Nys4, Formerly

Nys4

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinocerebellar Ataxia 27a, also known as spinocerebellar ataxia type 27, is related to autosomal dominant cerebellar ataxia and aceruloplasminemia, and has symptoms including cerebellar ataxia, ataxia, truncal and memory loss. An important gene associated with Spinocerebellar Ataxia 27a is FGF14 (Fibroblast Growth Factor 14), and among its related pathways/superpathways are G-Beta Gamma Signaling and MAPK signaling pathway. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are dysarthria and tremor

Related ID：

MALACARDS：SPN467

OMIM：193003

MESH：D020754