Factor V Deficiency (FA5D)

Factor V Deficiency(来自ICD-11)
别称:
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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Factor V Deficiency, also known as parahemophilia, is related to factor v and factor viii, combined deficiency of, 1 and thrombophilia due to activated protein c resistance. An important gene associated with Factor V Deficiency is F5 (Coagulation Factor V), and among its related pathways/superpathways are Metabolism of proteins and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include skin and whole blood, and related phenotypes are epistaxis and joint hemorrhage
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基础信息

遗传方式
发病时间
患病率/发病率
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参考文献
MALACARDS
AR
All ages
1-9/1000000
11
93
43

疾病表征

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基因 & 突变

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靶点药物

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疾病模型

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MGI
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