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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
Bestrophinopathy, Autosomal Recessive (ARB)
Alias:
Autosomal Recessive Bestrophinopathy
Bestrophinopathy
Retinopathy, Burgess-Black Type
Arb
Retinopathy Burgess-Black Type
Bestrophinopathies
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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
Bestrophinopathy, Autosomal Recessive(常染色体隐性遗传性Bestrophinopathy)与黄斑视网膜水肿和黄斑孔有关。与Bestrophinopathy, Autosomal Recessive相关的基因是BEST1(Bestrophin 1),其相关通路/超级通路包括无机离子/氨基酸/寡肽的运输和背根神经节神经元的神经痛信号传导。相关组织包括眼睛和视网膜,相关表型为视力下降和远视。
Related ID:
MALACARDS:BST008
OMIM:611809
MESH:C567518
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
全年龄段
<1/1000000
21
158
71
BST008
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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