Autosomal Recessive Cerebellar Ataxia (ARCA)

Autosomal Recessive Cerebellar Ataxia(来自ICD-11)
别称:
Arca
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Autosomal Recessive Cerebellar Ataxia, also known as arca, is related to spinocerebellar ataxia, autosomal recessive 8 and ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia. An important gene associated with Autosomal Recessive Cerebellar Ataxia is ANO10 (Anoctamin 10), and among its related pathways/superpathways are Homology Directed Repair and Regulation of TP53 Activity. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Increased shRNA abundance (Z-score > 2)
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参考文献
MALACARDS
AR
All ages
1-9/100000
75
837
6

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