Fundus Albipunctatus (FALBI)

Alias:
Retinitis Punctata Albescens
Pigmentary Retinal Dystrophy
Rpa
Albipunctate Retinal Dystrophy
Lauber's Disease
Falbi
Fa
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
白点状视网膜炎,又称白点状视网膜病变,与双侧视网膜病变和纽芬兰视杆视锥病变有关。与白点状视网膜炎有关的重要基因是RDH5(视黄醇脱氢酶5),其相关通路/超级通路包括嗅觉信号通路和ESR介导的信号通路。相关组织包括视网膜和眼睛,相关表型为进行性视力丧失和夜盲症。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
孩童期
1-9/1000000
49
353
36

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