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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
Choroideremia (CHM)
Alias:
Chm
Tcd
Progressive Tapetochoroidal Dystrophy
Tapetochoroidal Dystrophy
Choroidal Sclerosis
Tapetochoroidal Dystrophy, Progressive
Progressive Choroidal Atrophy
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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
Choroideremia, 也被称为 chm,与周边视网膜退化和夜盲症有关。与 Choroideremia 相关的重要基因是 CHM (CHM Rab Escort Protein),其相关通路/超通路包括蛋白质代谢和囊泡介导的运输。在该疾病的背景下提到了 Simvastatin 和 Hydroxymethylglutaryl-CoA Reductase Inhibitors 这两种药物。附属组织包括眼睛和视网膜,相关表型为视觉障碍和视网膜色素异常。
Related ID:
MALACARDS:CHR081
OMIM:303100
MESH:D015794
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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孩童期
1-9/100000
40
337
74
CHR081
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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