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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Apparent Mineralocorticoid Excess, also known as cortisol 11-beta-ketoreductase deficiency, is related to hypertensive retinopathy and pituitary-dependent cushing's disease. An important gene associated with Apparent Mineralocorticoid Excess is HSD11B2 (Hydroxysteroid 11-Beta Dehydrogenase 2), and among its related pathways/superpathways are Metabolism of steroids and ACE Inhibitor Pathway, Pharmacodynamics. The drugs Licorice and Enoxolone have been mentioned in the context of this disorder. Affiliated tissues include kidney and placenta, and related phenotypes are hypertension and hypokalemia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
11
124
22

Medical Symptom

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Gene & Mutation

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MGI
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References Literature

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