Cataract 4, Multiple Types (CTRCT4)

Alias:
Cataract 4 Multiple Types
Cataract 4, Multiple Types, with or Without Microcornea
Cataract, Congenital, Cerulean Type, 3
Cataract, Crystalline Aculeiform
Aculeiform Cataract
Ctrct4
Cca3
Cataract, Punctate, Progressive Juvenile-Onset
Cataract, Nonnuclear Polymorphic Congenital
Congenital Cataract Cerulean Type 3
Caca
Pcc
Cataract 4 Multiple Types with or Without Microcornea
Punctate, Progressive Juvenile-Onset, Cataract
Congenital Non-Nuclear Polymorphic Cataract
Congenital Cataract Blue Dot Type 3
Crystalline Aculeiform Cataract
Cataract, Type 4
Ccp
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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4型,多态性,也称为白内障4型多态性,与丙酸血症和小头畸形1型,原发性,常染色体隐性有关。与白内障4型,多态性有关的重要基因是CRYGD(晶状体γD)。在该疾病的背景下提到了Futibatinib和吉西他滨。附属组织包括眼睛和背根神经节,相关表型是发育性白内障。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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13
81
22

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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