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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
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。
Related ID:
MALACARDS:APP015
OMIM:218030
MESH:D043204
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
--
11
124
22
APP015
Medical Symptom
#
Categorization
Description
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Orphanet Frequency
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No data available
Gene & Mutation
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No data available
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Name
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No data available
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Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
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IF
No Data Found!
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