Spinocerebellar Ataxia, Autosomal Recessive 16 (SCAR16)

Spinocerebellar Ataxia, Autosomal Recessive 16(来自ICD-11)
别称:
Autosomal Recessive Spinocerebellar Ataxia 16
Scar16
Autosomal Recessive Cerebellar Ataxia Due to Stub1 Deficiency
Ataxia, Spinocerebellar, Autosomal Recessive, Type 16
Spinocerebellar Ataxia Autosomal Recessive Type 16
Spinocerebellar Ataxia, Autosomal Recessive, 16
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spinocerebellar Ataxia, Autosomal Recessive 16, also known as autosomal recessive spinocerebellar ataxia 16, is related to spinocerebellar ataxia 48 and cerebellar ataxia type 48, and has symptoms including ataxia, truncal An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 16 is STUB1 (STIP1 Homology And U-Box Containing Protein 1), and among its related pathways/superpathways is Ubiquitination Cascade. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are dysarthria and cerebellar atrophy
查看原文 参与反馈
相关ID:

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AR
Adult
<1/1000000
12
53
13

疾病表征

#
分类
表征
HPO概率
Orphanet概率
HPO来源
暂无相关数据

基因 & 突变

#
基因
作用分类
分值
突变数量
暂无相关数据

靶点药物

药物名称
CAS号
研发状态
临床阶段
暂无相关数据

疾病模型

类型
名称
MGI
相关基因
品系来源
文献数量
暂无相关数据

文献报道

标题
PMID
期刊
年代
IF
暂无数据
Wechat
Comparison
Al agent
Tutorials
Back to top