Spinocerebellar Ataxia, Autosomal Recessive 2 (SCAR2)

Alias:

Scar2

Autosomal Recessive Spinocerebellar Ataxia 2

Autosomal Recessive Cerebelloparenchymal Disorder Type 3

Autosomal Recessive Spinocerebellar Ataxia Type 2

Cerebelloparenchymal Disorder Iii

Cpd Iii

Cpd3

Cerebellar Granular Cell Hypoplasia and Mental Retardation, Congenital

Cerebellar Hypoplasia, Non-Progressive Norman Type

Cerebellar Hypoplasia, Nonprogressive Norman Type

Spinocerebellar Ataxia, Autosomal Recessive, 2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinocerebellar Ataxia, Autosomal Recessive 2, also known as scar2, is related to ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia and spinocerebellar ataxia, autosomal recessive 3, and has symptoms including muscle spasticity, tremor and gait ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 2 is PMPCA (Peptidase, Mitochondrial Processing Subunit Alpha). Affiliated tissues include eye and spinal cord, and related phenotypes are intellectual disability and ataxia

Related ID：

MALACARDS：SPN200

OMIM：213200

MESH：D002524