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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
非罕见病
Scotoma
Alias:
Scotoma of Blind Spot Area
Enlarged Blind Spot
Generalized Visual Field Contraction or Constriction
Sector or Arcuate Visual Field Defects
Enlarged Paracaecal Scotoma
Blind Spot Area Scotoma
Enlarged Angioscotoma
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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
视野缺损,又称扩大性盲点,与视神经萎缩7伴有或不伴有听神经病和视神经萎缩9有关。与视野缺损有关的重要基因是TMEM126A(跨膜蛋白126A),其相关通路/超通路包括视觉光传导和复合I生物合成。在该疾病的背景下提到了雷珠单抗和生长抑制剂。附属组织包括眼睛和皮质,相关表型为神经系统和色素沉着。
Related ID:
MALACARDS:SCT002
ICD11:261697880
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
24
197
--
SCT002
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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