Apparent Mineralocorticoid Excess (AME)

Alias:
Apparent Mineralocorticoid Excess Syndrome
Cortisol 11-Beta-Ketoreductase Deficiency
11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2
Ulick Syndrome
Mineralocorticoid Excess Syndrome, Apparent
Ame1
Ame
11 Beta Hydroxysteroid Dehydrogenase Type 2 Deficiency
Syndrome of Apparent Mineralocorticoid Excess
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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
显性醛固酮增多症,又称皮质醇11-β-酮还原酶缺乏症,与高血压视网膜病变和垂体依赖性库欣病有关。与显性醛固酮增多症相关的基因是HSD11B2(11-β-羟类固醇脱氢酶2),其相关通路/超级通路包括类固醇代谢和ACE抑制通路,药理学。在该疾病的背景下,已提到的药物有甘草和恩诺酮。相关组织包括肾和胎盘,相关表型为高血压和低钾血症。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
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11
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22

Medical Symptom

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Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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No Data Found!
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