Exudative Vitreoretinopathy 1 (EVR1)

Alias:
Retinopathy of Prematurity
Retrolental Fibroplasia
Evr1
Criswick-Schepens Syndrome
Rop
Exudative Vitreoretinopathy, Familial, Autosomal Dominant
Autosomal Dominant Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Exudative, Type 1
Rop - [retinopathy of Prematurity]
Vitreoretinopathy, Exudative 1
Retinopathy of Prematurity Nos
Rlf- [retrolental Fibroplasia]
Fevr, Autosomal Dominant
Premature Retinopathy
Terry Syndrome
Fevr
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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
渗出性玻璃体视网膜病变1,也称为早产儿视网膜病变,与渗出性玻璃体视网膜病变和先兆子痫有关,症状包括高氧。与渗出性玻璃体视网膜病变1有关的重要基因是FZD4(Frizzled Class Receptor 4),其相关通路/超级通路包括ERK信号通路和信号转导。锌离子和硫酸锌已在该疾病的背景下被提及。附属组织包括眼睛和视网膜,相关表型为异常视网膜血管形态和早产。
Related ID:
MESH:C536382
ICD11:947283385

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
--
74
905
41

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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