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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Neovascular Glaucoma
Alias:
Glaucoma, Neovascular
Secondary Angle-Closure Glaucoma with Rubeosis
Glaucoma Neovascular
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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
新生血管性青光眼,又称青光眼、新生血管性,与中央视网膜静脉阻塞和视网膜静脉阻塞有关,症状包括进行性周边视力丧失。与新生血管性青光眼相关的重要基因是TGFB2(转化生长因子β2),其相关通路/超级通路包括滑膜成纤维细胞的凋亡通路和ERK信号通路。在该疾病的背景下,贝伐单抗和丝裂霉素已被提及。附属组织包括眼睛和内皮,相关表型为青光眼和视力丧失。
Related ID:
MALACARDS:NVS001
MESH:D015355
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
成年期
1-5/10000
21
214
--
NVS001
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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