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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
Factor V Deficiency (FA5D)
Alias:
Parahemophilia
Proaccelerin Deficiency
Owren Disease
Congenital Factor V Deficiency
Labile Factor Deficiency
Quebec Platelet Disorder
Owren Parahemophilia
Hereditary Hypoproaccelerinaemia
Deficiency, Factor V
Factor 5 Deficiency
Deficiency, Labile
Owren's Disease
Fa5d
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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
因子V缺乏症,又称旁血友病,与因子V和因子VIII的联合缺乏有关,1和由于激活蛋白C抵抗引起的血栓形成。与因子V缺乏症有关的重要基因是F5(凝血因子V),其相关通路/超级通路包括蛋白质代谢和对血小板胞质内Ca2+升高的反应。附属组织包括皮肤和全血,相关表型为鼻出血和关节出血。
Related ID:
MALACARDS:FCT006
OMIM:227400
MESH:D005166
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
全年龄段
1-9/1000000
11
93
43
FCT006
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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