Hemoglobin C Disease

Hemoglobin C Disease(来自ICD-11)
别称:
Hemoglobin C
Hb-C Disease
Hb C Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hemoglobin C Disease, also known as hemoglobin c, is related to sickle cell-hemoglobin c disease syndrome and sickle cell disease. An important gene associated with Hemoglobin C Disease is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways is Golgi-to-ER retrograde transport. The drugs Hydroxyurea and Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include spleen and skeletal muscle.
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相关ID:
MESH:D006445
ICD11:2097316574

基础信息

遗传方式
发病时间
患病率/发病率
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相关模型
参考文献
MALACARDS
AR
All ages
>1/1000
15
81
24

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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