Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 GeneticVariation disease BEFREE These findings suggest a spectrum of partial 11β-HSD2 insufficiency in a primary care cohort without the classic phenotype and genotype of AME. 30239803 2019
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 GeneticVariation disease BEFREE Apparent Mineralocorticoid Excess in the Pediatric Population: Report of a Novel Pathogenic Variant of the 11β-HSD2 Gene and Systematic Review of the Literature. 30888125 2019
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 GeneticVariation disease BEFREE Pathogenic variations in HSD11B2 gene triggers the apparent mineralocorticoid excess syndrome (AME). 29617893 2018
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 Biomarker disease BEFREE Congenital deficiency of 11β-HSD2 causes a form of salt-sensitive hypertension known as the syndrome of apparent mineralocorticoid excess. 28938454 2017
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 Biomarker disease BEFREE We find that mutations that allow the formation of an inactive dimer, alter substrate/coenzyme binding, or impair structural stability of HSD11B2 yield severe AME. 29229831 2017
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 Biomarker disease BEFREE Apparent mineralocorticoid excess (AME) is a genetic disorder causing severe hypertension, hypokalemia, and hyporeninemic hypoaldosteronism owing to deficient 11 beta-hydroxysteroid dehydrogenase type-2 (11βHSD2) enzyme activity. 26892095 2017
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 Biomarker disease BEFREE Selective inhibition of 11β-HSD2 is generally detrimental to health because the accumulation of cortisol can cause metabolic symptoms such as apparent mineralocorticoid excess (AME), fetal developmental defects and lower testosterone levels in males. 28366868 2017
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 GeneticVariation disease BEFREE Apparent mineralocorticoid excess (AME) syndrome patients were found to have congenital mutations resulting in non-functional renal 11β-hydroxysteroid dehydrogenase-2 (11β-HSD2) and severe hypertension often lethal in childhood. 28624548 2017
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 AlteredExpression disease BEFREE Apparent mineralocorticoid excess is a syndrome reflecting the absent or impaired activity of the enzyme 11β-hydroxysteroid dehydrogenase Type 2. 26956190 2017
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 Biomarker disease BEFREE Our data suggest that kidney-specific deficiency of 11β-HSD2 leads to salt-dependent hypertension, which is attributed to mineralocorticoid receptor-epithelial sodium channel-Na<sup>+</sup>-Cl<sup>-</sup> cotransporter activation in the kidney, and provides evidence that renal dysfunction is essential for developing the phenotype of apparent mineralocorticoid excess. 28559392 2017
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 GeneticVariation disease BEFREE A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred. 27526338 2016
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 GeneticVariation disease BEFREE The objective of the study was to characterize AME for possible novel HSD11B2 mutations and to define the role of HSD11B2 promoter methylation in the phenotypic expression of the disease. 26126204 2015
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 AlteredExpression disease BEFREE The isozyme 11beta-HSD2 is selectively expressed in mineralocorticoid target tissues and its activity is reduced in various disease states with abnormal sodium retention and hypertension, including the apparent mineralocorticoid excess. 25133511 2014
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 Biomarker disease BEFREE Apparent mineralocorticoid excess (AME) syndrome is a rare autosomal recessive disorder due to the deficiency of 11b hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). 23665601 2013
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 Biomarker disease BEFREE 11β-Hydroxysteroid dehydrogenase type 2 (11β-HSD2) catalyzes the inactivation of cortisol (F) to cortisone (E) in aldosterone target tissues, thereby protects mineralocorticoid receptor from F. Failure of 11β-HSD2 function is the basis of apparent mineralocorticoid excess, and its mild disturbances are suggested to lead to hypertension. 23303402 2013
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 GeneticVariation disease BEFREE Mutations in the HSD11B2 gene cause a rare monogenic juvenile hypertensive syndrome called apparent mineralocorticoid excess (AME). 19909806 2010
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 GeneticVariation disease BEFREE Nonfunctional mutations in HSD11B2, the gene encoding 11betaHSD2, cause the hypertensive syndrome of apparent mineralocorticoid excess (AME). 20571110 2010
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 Biomarker disease CTD_human Spironolactone effective hypertension in the elderly due to 11beta-hydroxysteroid dehydrogenase type 2 (11beta-HSD2) impairment: contributory role of determining serum cortisol/cortisone ratio as a marker of 11beta-HSD2 activity. 19075542 2008
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 GeneticVariation disease UNIPROT Therefore, impaired 11beta-HSD2 protein stability rather than reduced gene expression or loss of catalytic activity seems to be responsible for the development of hypertension in some individuals with AME. 17314322 2007
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 AlteredExpression disease BEFREE Therefore, impaired 11beta-HSD2 protein stability rather than reduced gene expression or loss of catalytic activity seems to be responsible for the development of hypertension in some individuals with AME. 17314322 2007
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 GeneticVariation disease BEFREE Mutations in the gene encoding 11beta-hydroxysteroid dehydrogenase type 2, HSD11B2, cause a rare monogenic juvenile hypertensive syndrome called apparent mineralocorticoid excess (AME). 16778331 2006
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 GeneticVariation disease BEFREE AME represents a spectrum of mineralocorticoid hypertension with severity reflecting the underlying genetic defect in the 11beta-HSD2; although AME is a genetic disorder, several exogenous compounds can bring about the symptoms by inhibiting 11beta-HSD2 enzyme. 15761540 2004
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 Biomarker disease BEFREE Mutations in the gene encoding 11beta-hydroxysteroid dehydrogenase type 2, 11beta-HSD2 (HSD11B2), explain the molecular basis for the syndrome of apparent mineralocorticoid excess (AME), characterized by severe hypertension and hypokalemic alkalosis. 12860834 2003
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 GeneticVariation disease UNIPROT Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. 12788846 2003
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
0.800 Biomarker disease GENOMICS_ENGLAND Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. 12788846 2003