Choroideremia (CHM)

Alias:
Chm
Tcd
Progressive Tapetochoroidal Dystrophy
Tapetochoroidal Dystrophy
Choroidal Sclerosis
Tapetochoroidal Dystrophy, Progressive
Progressive Choroidal Atrophy
Favorite
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
Choroideremia, 也被称为 chm,与周边视网膜退化和夜盲症有关。与 Choroideremia 相关的重要基因是 CHM (CHM Rab Escort Protein),其相关通路/超通路包括蛋白质代谢和囊泡介导的运输。在该疾病的背景下提到了 Simvastatin 和 Hydroxymethylglutaryl-CoA Reductase Inhibitors 这两种药物。附属组织包括眼睛和视网膜,相关表型为视觉障碍和视网膜色素异常。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
孩童期
1-9/100000
40
337
74

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
微信
信息比对
科研助手
使用教程
回到顶部