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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
Vogt-Koyanagi-Harada Disease
Alias:
Uveomeningoencephalitic Syndrome
Uveomenigitic Syndrome
Vogt-Koyanagi Syndrome
Harada's Disease
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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
Vogt-Koyanagi-Harada病,又称眼脑膜炎综合症,与结膜炎和葡萄膜炎有关。与Vogt-Koyanagi-Harada病相关的重要基因是PTPN22(非受体酪氨酸磷酸酶22),其相关通路/超级通路包括先天性免疫系统和ERK信号通路。在该疾病的背景下,贝伐单抗和生长抑制剂已被提及。附属组织包括眼睛和皮肤,相关表型包括感觉神经性听力障碍和认知障碍。
Related ID:
MALACARDS:VGT001
MESH:D014607
ICD11:1827767178
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
全年龄段
1-9/100000
29
515
--
VGT001
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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