Duane Retraction Syndrome (DRS)

Alias:
Stilling-Turk-Duane Syndrome
Duane Syndrome
Duane's Syndrome
Durs
Drs
Isolated Duane Retraction Syndrome
Co-Contractive Retraction Syndrome
Ocular Retraction Syndrome
Duane Anomaly, Isolated
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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
杜安氏收缩综合征,又称斯特林-特尔克-杜安氏综合征,与杜安氏收缩综合征2和杜安氏收缩综合征1有关,症状包括眼肌麻痹和眼肌无力。与杜安氏收缩综合征有关的重要基因是WFS1(沃尔夫林ER跨膜糖蛋白)。附属组织包括眼睛和骨骼肌,相关表型为眼球运动异常和斜视
Related ID:
MESH:D004370

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
新生儿
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37
266
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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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