Spinocerebellar Ataxia, Autosomal Recessive 23 (SCAR23)

Alias:

Scar23

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

Autosomal Recessive Spinocerebellar Ataxia 23

Ataxia, Spinocerebellar, Autosomal Recessive, Type 23

Spinocerebellar Ataxia Autosomal Recessive Type 23

Spinocerebellar Ataxia, Autosomal Recessive, 23

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinocerebellar Ataxia, Autosomal Recessive 23, also known as scar23, is related to autosomal dominant cerebellar ataxia and spinocerebellar ataxia 23. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 23 is TDP2 (Tyrosyl-DNA Phosphodiesterase 2), and among its related pathways/superpathways are DNA Damage and Base excision repair. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are intellectual disability and seizure

Related ID：

MALACARDS：SPN377

OMIM：616949

MESH：D002524