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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
Marfan Syndrome (MFS)
Alias:
Mfs
Mfs1
Marfan Syndrome Type 1
Marfan's Syndrome
Marfanoid Hypermobility Syndrome
Marfan Syndrome, Type I
Marfan Disease
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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
马凡氏综合症,也被称为mfs,与Loeys-Dietz综合症2和新生儿马凡氏综合症有关。与马凡氏综合症有关的重要基因是FBN1(胶原蛋白1),其相关通路/超级通路包括ERK信号通路和信号转导。在该疾病的背景下提到了阿替洛尔和维拉帕米。附属组织包括心脏和脊髓,相关表型包括鸡胸和扁平足。
Related ID:
MALACARDS:MRF001
OMIM:154700
MESH:D008382
ICD11:236564145
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
全年龄段
1-9/100000
52
747
499
MRF001
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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