Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 (SCAN2)

Alias:

Aoa2

Scar1

Spinocerebellar Ataxia with Axonal Neuropathy Type 2

Ataxia with Oculomotor Apraxia Type 2

Scan2

Ataxia-Oculomotor Apraxia Type 2

Ataxia-Oculomotor Apraxia 2

Ataxia-Ocular Apraxia 2

Scan 2

Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 2

Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly

Ataxia, Spinocerebellar, Autosomal Recrecessive, Type 1

Spinocerebellar Ataxia with Axonal Neuropathy 2

Spinocerebellar Ataxia, Autosomal Recessive, 1

Spinocerebellar Ataxia, Autosomal Recessive 1

Autosomal Recessive Spinocerebellar Ataxia 1

Ataxia-Ocular Apraxia-2

Scar1, Formerly

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2, also known as aoa2, is related to ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia and oculomotor apraxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 is SETX (Senataxin), and among its related pathways/superpathways are TCR Signaling (Qiagen) and fMLP Pathway. Affiliated tissues include eye and spinal cord, and related phenotypes are ataxia and areflexia

Related ID：

MALACARDS：SPN429

OMIM：606002

MESH：D002524