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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
非罕见病
Macular Dystrophy with Central Cone Involvement (CCMD)
Alias:
Ccmd
Dystrophy, Macular, with Central Cone Involvement
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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
黄斑部中央锥体病变,也称为ccmd,与白内障1、多种类型和快速退化的先天性血管瘤有关。与黄斑部中央锥体病变相关的基因是MFSD8(主要协助超家族域包含8)。附属组织包括眼睛和丘脑,相关表型为视力障碍和视力下降
Related ID:
MALACARDS:MCL057
OMIM:616170
MESH:D005128
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
9
6
MCL057
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
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Year
IF
No Data Found!
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