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。
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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

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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