Usher Syndrome (USH)

Alias:
Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome
Graefe-Usher Syndrome
Ush
Deafness-Retinitis Pigmentosa Syndrome
Hallgren Syndrome
Usher's Syndrome
Usher Syndromes
Favorite
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
Usher综合症,也被称为色素性视网膜炎-耳聋综合症,与Usher综合症I型和Usher综合症IIa型有关,症状包括咳嗽、打鼾和耳鸣。与Usher综合症相关的重要基因是USH2A(Usherin),其相关通路/超级通路包括嗅觉信号通路和纤毛景观。在该疾病的背景下提到了Omega 3脂肪酸。附属组织包括眼睛和视网膜,相关表型为感觉神经性听力障碍和视觉障碍。
Related ID:
MESH:D052245
ICD11:1452641873

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
1-9/100000
150
1323
256

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!
微信
信息比对
科研助手
使用教程
回到顶部