Sveinsson Chorioretinal Atrophy (SCRA)

Alias:
Helicoid Peripapillary Chorioretinal Degeneration
Atrophia Areata
Scra
Hpcd
Peripapillary Chorioretinal Degeneration, Icelandic Type
Helicoidal Peripapillary Chorioretinal Degeneration
Aa
Atrophy, Chorioretinal, Sveinsson
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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
斯维辛松视网膜萎缩,又称螺旋状视盘周围视网膜退化,与视网膜色素上皮病变、中央圆孔1和无α-脂蛋白血症有关。与斯维辛松视网膜萎缩有关的重要基因是TEAD1(茶域转录因子1),其相关通路/超级通路包括信号转导和胸膜间皮瘤。相关组织包括眼睛和视网膜,相关表型为近视和散光。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
<1/1000000
23
197
9

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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