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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
Cataract 11, Multiple Types (CTRCT11)
Alias:
Cataract, Posterior Polar, 4
Cataract 11 Multiple Types
Ctrct11
Ctpp4
Cpp4
Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities
Cataract 11, Syndromic, Autosomal Recessive
Cataract, Type 11, Multiple Types
Posterior Polar Cataract 4
Cataract Posterior Polar 4
Syndromic Cataract 11
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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
白内障11型,多态性,也被称为白内障,后极性,4型,与后极性白内障和前节发育不良1有关。与白内障11型,多态性相关的基因是PITX3(配对同源域3),其相关通路/超级通路包括 Prefoldin和TriC/CCT在肌动蛋白和微管折叠中的合作。附属组织包括眼睛,相关表型为发育性白内障和智力障碍。
Related ID:
MALACARDS:CTR113
OMIM:610623
MESH:D002386
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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15
87
3
CTR113
Medical Symptom
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No data available
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