Retinal Cone Dystrophy 4 (RCD4)

Retinal Cone Dystrophy 4(来自ICD-11)
别称:
Rcd4
Dystrophy, Retinal Cone, Type 4
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinal Cone Dystrophy 4, also known as rcd4, is related to cone-rod dystrophy 2 and night blindness, congenital stationary, type 1c, and has symptoms including photophobia An important gene associated with Retinal Cone Dystrophy 4 is CACNA2D4 (Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 4), and among its related pathways/superpathways are G-Beta Gamma Signaling and Development Ligand-independent activation of ESR1 and ESR2. Affiliated tissues include t cells and monocytes, and related phenotypes are visual impairment and photophobia
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
Unknown
--
8
60
3

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