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 |
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 |
Apparent mineralocorticoid excess
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variations in HSD11B2 gene triggers the apparent mineralocorticoid excess syndrome (AME).
|
29617893 |
2018 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Apparent mineralocorticoid excess
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred.
|
27526338 |
2016 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |