Microphthalmia, Isolated 1 (MCOP1)

Alias:
Isolated Microphthalmia 1
Mcop1
Microphthalmos, Autosomal Recessive
Anophthalmia, Clinical, Isolated
Mcop
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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
Microphthalmia, Isolated 1,也被称为孤立性小眼症1,与Microphthalmia, Isolated 2和Microphthalmia, Isolated 6有关。与Microphthalmia, Isolated 1相关的基因是MCOP1(常染色体显性小眼症),其相关通路/超通路包括信号转导和胸膜间皮瘤。在该疾病的背景下,已经提到了Mitoxantrone和Prednisolone这两种药物。附属组织包括眼睛和甲状腺,相关表型包括青光眼和无眼症。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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17
218
19

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

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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