Leber Congenital Amaurosis 5 (LCA5)

Alias:
Lca5
Leber Congenital Amaurosis, Type 5
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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
Leber先天性黑蒙5,也称为lca5,与Leber plus病和视网膜发育不良有关。与Leber先天性黑蒙5有关的重要基因是LCA5(Lebercilin LCA5)。附属组织包括视网膜和眼睛,相关表型为眼震和视力障碍。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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2
5
12

Medical Symptom

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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

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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