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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
Fuchs' Endothelial Dystrophy (FCED)
Alias:
Fuchs Endothelial Corneal Dystrophy
Late Hereditary Endothelial Dystrophy
Endoepithelial Corneal Dystrophy
Fuchs Endothelial Dystrophy
Fuchs Dystrophy
Fecd
Corneal Dystrophy, Fuchs' Endothelial, 1
Dystrophy, Corneal, Fuchs Endothelial
Fuchs' Endothelial Corneal Dystrophy
Corneal Dystrophy, Fuchs Endothelial
Fuchs' Corneal Dystrophy
Fuchs Corneal Dystrophy
Fuchs Atrophy
Fced
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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
福克斯氏内皮细胞营养不良,又称福克斯氏内皮角膜营养不良,与角膜内皮营养不良和散光有关。与福克斯氏内皮细胞营养不良有关的重要基因是COL8A2(胶原蛋白第八型α2链)。在该疾病的背景下,已提到的药物有泼尼松和泼尼松酸。附属组织包括内皮和眼睛,相关表型为角膜混浊和视力下降。
Related ID:
MALACARDS:FCH001
MESH:D005642
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
--
63
433
--
FCH001
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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