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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
Macular Dystrophy, Dominant Cystoid (DCMD)
Alias:
Cystoid Macular Edema
Autosomal Dominant Cystoid Macular Edema
Cystoid Macular Dystrophy
Macular Edema, Cystoid
Dcmd
Familial Macular Edema
Macular Retinal Edema
Macular Edema
Cymd
Mddc
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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
视网膜黄斑部病变,显性囊状,又称为囊状黄斑水肿,与玻璃体脱离和中浆炎有关,症状包括水肿和橘皮样外观。与视网膜黄斑部病变,显性囊状相关的基因是CYMD(囊状黄斑病变),其相关通路/超级通路包括嗅觉信号通路和视觉光转导通路。在该疾病的背景下,已提到的药物有Ketorolac和Latanoprost。相关组织包括眼睛和视网膜,相关表型为斜视和异常电生理视网膜图。
Related ID:
MALACARDS:MCL027
OMIM:153880
MESH:D008269
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
<1/1000000
20
220
7
MCL027
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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