Spinocerebellar Ataxia, Autosomal Recessive 13 (SCAR13)

Alias:

Autosomal Recessive Spinocerebellar Ataxia 13

Scar13

Autosomal Recessive Congenital Cerebellar Ataxia Due to Metabotropic Glutamate Receptor 1 Deficiency

Autosomal Recessive Congenital Cerebellar Ataxia Due to Mglur1 Deficiency

Ataxia, Spinocerebellar, Autosomal Recessive, Type 13

Autosomal Recessive Spinocerebellar Ataxia Type 13

Spinocerebellar Ataxia, Autosomal Recessive, 13

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinocerebellar Ataxia, Autosomal Recessive 13, also known as autosomal recessive spinocerebellar ataxia 13, is related to spinocerebellar ataxia 13 and autosomal dominant cerebellar ataxia, and has symptoms including dysdiadochokinesis An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 13 is GRM1 (Glutamate Metabotropic Receptor 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and Protein-protein interactions at synapses. Affiliated tissues include spinal cord and brain, and related phenotypes are intellectual disability and hyperreflexia

Related ID：

MALACARDS：SPN258

OMIM：614831

MESH：D002524