Friedreich Ataxia (FRDA)

Friedreich Ataxia(来自ICD-11)
别称:
Friedreich Ataxia 1
Frda
Friedreich Ataxia with Retained Reflexes
Fa
Frda1
Friedreich's Ataxia
Friedreich Spinocerebellar Ataxia
Hereditary Spinal Ataxia
Friedreich's Tabes
Friedrich's Ataxia
Fa1
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Friedreich Ataxia, also known as frda, is related to friedreich ataxia 2 and ataxia with vitamin e deficiency, and has symptoms including ataxia, back pain and headache. An important gene associated with Friedreich Ataxia is FXN (Frataxin), and among its related pathways/superpathways are Glucose / Energy Metabolism and Insulin receptor recycling. The drugs Dopamine and Escitalopram have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and heart, and related phenotypes are gait ataxia and dysarthria
查看原文 参与反馈
相关ID:
MESH:C565561
ICD11:980686666

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
Child
1-9/1000000
74
617
299

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