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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
Fanconi Anemia, Complementation Group E (FANCE)
Alias:
Fanconi Anemia Complementation Group E
Fance
Face
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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
范可尼贫血,补充组E,也称为范可尼贫血,补充组E,与范可尼贫血,补充组I和范可尼贫血,补充组Q有关,症状包括贫血苍白。与范可尼贫血,补充组E有关的重要基因是FANCE(FA补充组E),其相关通路/超级通路包括同源导向修复和抗病毒机制由IFN刺激基因介导。在该疾病的背景下提到了药物氨甲环酸和透明质酸酶。附属组织包括骨髓和皮肤,相关表型为全球发育延迟和智力障碍。
Related ID:
MALACARDS:FNC043
OMIM:600901
MESH:D005199
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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16
53
15
FNC043
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
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Publications
No data available
References Literature
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IF
No Data Found!
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