Night Blindness, Congenital Stationary, Type 1a (CSNB1A)

Alias:
Congenital Stationary Night Blindness 1a
Hemeralopia-Myopia
Csnb1a
Night Blindness, Congenital Stationary , 1a, X-Linked
Congenital Stationary Night Blindness with Myopia
Myopia-Night Blindness
Night Blindness, Congenital Stationary, with Myopia
Congenital Stationary Night Blindness 1a X-Linked
Blindness, Night, Stationary, Congenital, Type 1a
Night Blindness, Congenital Stationary, Type 2a
X-Linked Congenital Stationary Night Blindness
Night Blindness, Congenital Stationary, 1a
Csnb, Complete, X-Linked
Complete Csnb X-Linked
Complete X-Linked Csnb
Night Blindness
X-Linked Csnb
Nyctalopia
Xlcsnb
Nbm1
Nbmi
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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
夜盲症,先天性固定型,1a型,也称为先天性固定型夜盲症1a型,与X连锁先天性固定型夜盲症和夜盲症,先天性固定型,1e型有关,症状包括其他特定视觉障碍、畏光和闪光性失明。与夜盲症,先天性固定型,1a型有关的重要基因是NYX(Nyctalopin)。在该疾病的背景下,已提到的药物有泼尼松和泼尼松酸。相关组织包括肝脏和视网膜,相关表型为先天性固定型夜盲症和高度近视。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X显
未知
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10
57
25

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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