Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome (RDCCAS)

Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome(来自ICD-11)
别称:
Progressive Retinal Dystrophy Due to Retinol Transport Defect
Rdccas
Dystrophy, Retinal, Iris Coloboma, and Comedogenic Acne Syndrome
Retinol Dystrophy-Iris Coloboma-Comedogenic Acne Syndrome
Acne Vulgaris
Acne
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome, is also known as progressive retinal dystrophy due to retinol transport defect, and has symptoms including exanthema and pruritus. An important gene associated with Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome is RBP4 (Retinol Binding Protein 4). The drugs Calcipotriol and Sarecycline have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related phenotypes are microcornea and iris coloboma
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
Child
<1/1000000
1
10
5

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