Spinocerebellar Ataxia, Autosomal Recessive 15 (SCAR15)

Alias:

Autosomal Recessive Spinocerebellar Ataxia 15

Scar15

Salih Ataxia

Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due to Rubcn Deficiency

Ataxia, Spinocerebellar, Autosomal Recessive, Type 15

Autosomal Recessive Spinocerebellar Ataxia Type 15

Spinocerebellar Ataxia, Autosomal Recessive, 15

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinocerebellar Ataxia, Autosomal Recessive 15, also known as autosomal recessive spinocerebellar ataxia 15, is related to aceruloplasminemia and autosomal dominant cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 15 is RUBCN (Rubicon Autophagy Regulator), and among its related pathways/superpathways are Focal adhesion and Tyrosine Kinases / Adaptors. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are dysarthria and delayed speech and language development

Related ID：

MALACARDS：SPN272

OMIM：615705

MESH：D002524