Hemophilia a (HEMA)

Hemophilia a(来自ICD-11)
别称:
Factor Viii Deficiency
Mild Hemophilia a
Congenital Factor Viii Deficiency
Congenital Fviii Deficiency
Congenital F8 Deficiency
Severe Hemophilia a
Hema
Severe Hereditary Factor Viii Deficiency Disease
Mild Hereditary Factor Viii Deficiency Disease
Deficiency Factor Viii with Functional Defect
Moderate Congenital Factor Viii Deficiency
Bleeding Disorder in Hemophilia a Carriers
Hereditary Factor Viii Deficiency Disease
Severe Congenital Factor Viii Deficiency
Mild Congenital Factor Viii Deficiency
Moderate Congenital F8 Deficiency
Functional Factor Viii Deficiency
Severe Congenital F8 Deficiency
Mild Congenital F8 Deficiency
Factor Viii Deficiency Nos
Moderate Hemophilia a
Hemophilia, Classic
Factor 8 Deficiency
Classic Hemophilia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hemophilia a, also known as factor viii deficiency, is related to von willebrand disease, type 2 and von willebrand disease, type 3. An important gene associated with Hemophilia a is F8 (Coagulation Factor VIII), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Mometasone furoate and Peginterferon alfa-2a have been mentioned in the context of this disorder. Affiliated tissues include liver and brain, and related phenotypes are arthralgia and joint swelling
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相关ID:
MESH:D006467
ICD11:1573164739

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
XL
XLD
Newborn
1-9/100000
9
79
301

疾病表征

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基因 & 突变

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靶点药物

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临床阶段
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疾病模型

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MGI
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文献报道

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