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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, Retinal, 1, North Carolina Type (MCDR1)
Alias:
North Carolina Macular Dystrophy
Central Areolar Pigment Epithelial Dystrophy
Mcdr1
Ncmd
Central Retinal Pigment Epithelial Dystrophy
Progressive Foveal Dystrophy
Caped
North Carolina Macular Dystrophy, Retinal 1
Cape Dystrophy
Dystrophy, Macular, Type 1, North Carolina Type
Retinal Pigment Epithelial Dystrophy, Central
Macular Dystrophy 1, North Carolina Type
Foveal Dystrophy, Progressive, Formerly
Macular Dystrophy, North Carolina Type
Retinal Macular Dystrophy 1
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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1型遗传性视网膜病变,又称为北卡罗来纳型黄斑部遗传性视网膜病变,与视网膜色素上皮萎缩、进行性双焦点和黄斑部遗传性视网膜病变4型有关。与视网膜黄斑部1型遗传性视网膜病变相关的基因是LOC111365204(CCNC和PRDM13间区DNase I敏感位点DHS6S1)。相关组织包括眼睛和视网膜,相关表型包括视力下降和黄斑色素异常。
Related ID:
MALACARDS:MCL069
OMIM:136550
MESH:C537835
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
<1/1000000
1
11
29
MCL069
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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