Spinocerebellar Ataxia, Autosomal Recessive 21 (SCAR21)

Alias:

Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome

Scar21

Cholestasis, Low Ggt, Acute Liver Failure, and Neurodegeneration Syndrome

Spinocerebellar Ataxia, Autosomal Recessive 21, with Hepatopathy

Autosomal Recessive Spinocerebellar Ataxia 21

Calfan

Autosomal Recessive Spinocerebellar Ataxia 21 with Hepatopathy

Ataxia, Spinocerebellar, Autosomal Recrecessive, Type 21

Autosomal Recessive Spinocerebellar Ataxia Type 21

Spinocerebellar Ataxia, Autosomal Recessive, 21

Calfan Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinocerebellar Ataxia, Autosomal Recessive 21, also known as acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, is related to spinocerebellar ataxia 21 and cholestasis. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 21 is SCYL1 (SCY1 Like Pseudokinase 1). Affiliated tissues include liver and spinal cord, and related phenotypes are global developmental delay and intellectual disability, mild

Related ID：

MALACARDS：SPN381

OMIM：616719

MESH：D002524