Spinocerebellar Ataxia, Autosomal Recessive 3 (SCAR3)

Alias:

Scar3

Scabd

Autosomal Recessive Spinocerebellar Ataxia-Blindness-Hearing Loss Syndrome

Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome

Autosomal Recessive Spinocerebellar Ataxia Type 3

Autosomal Recessive Spinocerebellar Ataxia 3

Spinocerebellar Ataxia with Blindness and Deafness

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinocerebellar Ataxia, Autosomal Recessive 3, also known as scar3, is related to galloway-mowat syndrome 1 and spinocerebellar ataxia, x-linked 2. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 3 is PEX6 (Peroxisomal Biogenesis Factor 6). Affiliated tissues include bone, and related phenotypes are nystagmus and hearing impairment

Related ID：

MALACARDS：SPN295

OMIM：271250

MESH：C537309