Stargardt Disease (STGD)

Alias:
Fundus Flavimaculatus
Stargardt Disease 1
Stargardt 1
Macular Dystrophy with Flecks, Type 1
Stargardt Macular Degeneration
Juvenile Macular Degeneration
Stargardt Disease-1
Stargardts Disease
Stgd
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
Stargardt病,也被称为黄斑部斑点病,与Stargardt病1和Stargardt病3有关。与Stargardt病相关的重要基因是ABCA4(ATP结合盒家族A成员4),其相关通路/超通路包括纤毛病和视觉信号传导:视锥细胞。在该疾病的背景下,已提到的药物包括二甲双胍和维生素A。附属组织包括眼睛和视网膜,相关表型为视力下降和视觉诱发电位异常。
Related ID:
MESH:D000080362

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
孩童期
1-5/10000
96
780
91

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!
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