Disease: Hypertensive disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE Recently, we have studied an unusual patient with mild low-renin hypertension and a homozygous mutation in the HSD11B2 gene. 9707624 1998
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE Mutations in the HSD11B2 gene encoding the kidney (11-HSD2) isozyme of 11beta-hydroxysteroid dehydrogenase cause the syndrome of apparent mineralocorticoid excess, a form of salt-sensitive hypertension. 11196453 2000
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE Mutations in the HSD11K (HSD11B2) gene encoding this isozyme cause a genetic form of hypertension, the syndrome of apparent mineralocorticoid excess (AME). 8865170 1996
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE It has been reported that the G534A(Glu178/Glu) polymorphism in the HSD11B2 gene is associated with hypertension. 22278213 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE A microsatellite marker within the HSD11B2 gene associates with salt sensitivity and hypertension--phenotypes characterising diabetic nephropathy. 11916625 2002
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE Epidemiological data suggests that polymorphic variability in the HSD11B2 gene determines salt sensitivity in the general population, which is a key predisposing factor to adult onset hypertension in some patients. 16980198 2006
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE Thus, depending on the degree of loss of enzyme activity, 11 beta HSD2 mutations can cause a spectrum of phenotypes ranging from severe, life-threatening hypertension in infancy to a milder form of the disease in adults. 10726708 2000
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE Mutations in the gene encoding 11beta-HSD2 (HSD11B2) account for an inherited form of hypertension, the syndrome of "Apparent Mineralocorticoid Excess" (AME) where cortisol induces hypertension and hypokalaemia. 15134813 2004
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE AME is due to a mutation in the 11 beta-HSD2 gene, and is an example of human hypertension arising from a single gene defect. 8538347 1996
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE 11beta-HSD2 protects the mineralocorticoid receptor from cortisol excess; mutations in the HSD11B2 gene explain an inherited form of hypertension, the syndrome of 'apparent mineralocorticoid excess', in which 'Cushing's disease of the kidney' results in cortisol-mediated mineralocorticoid excess. 12943516 2003
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE Mutations generating inactive enzymes have been described in the HSD11B2 gene in the congenital syndrome of apparent mineralocorticoid excess (AME)--a low renin form of hypertension. 9247735 1997
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE Mutations of the gene encoding 11beta-HSD-2 are responsible for the syndrome of apparent mineralocorticoid excess, in which cortisol illicitly occupies mineralocorticoid receptors, causing hypertension and hypokalaemia. 9370341 1997
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE Apparent mineralocorticoid excess (AME) is a rare autosomal recessive genetic disorder causing severe hypertension in childhood due to a deficiency of 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2), which is encoded by HSD11B2. 27526338 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE Impaired 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2)-dependent cortisol inactivation can lead to electrolyte dysbalance, hypertension and cardiometabolic disease. 28131847 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE The syndrome of AME is a rare form of juvenile hypertension in which 11-HSD is defective. 9034789 1997
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE The enhanced cortisol levels are backed by recent genetic findings on HSD11B2 polymorphisms and may promote hypertension. 18337758 2008
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE The aim of the study was to analyze the HSD11B2 gene to assess whether some of its variants might be involved in hypertension. 16109323 2005
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE AME represents a spectrum of mineralocorticoid hypertension with severity reflecting the underlying genetic defect in the 11beta-HSD2 gene; classification into distinct subtypes is inappropriate. 9683587 1998
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE Because polymorphisms in HSD11B2 have been associated with hypertension and salt sensitivity, we characterized the human VPATPD gene.It spans 19 kb and consists of 8 exons. 11118322 2000
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE Because hypertension in Black people tends to be of the low-renin, salt sensitive type, we genotyped independent sets of hypertensives of Afro-American (59 kindreds) and Afro-Caribbean (66 kindreds) origin using a highly polymorphic (heterozygosity index 0.84) CA repeat polymorphism in the first intron of HSD11B2. 11531933 2001
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE These findings indicate that variants of the HSD11B2 gene may contribute to the enhanced blood pressure response to salt and possibly to hypertension in humans. 19909806 2010
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group 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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group LHGDN In AME, defective HSD11B2 enzyme activity results in overstimulation of the mineralocorticoid receptor (MR) by cortisol, causing sodium retention, hypokalemia, and salt-dependent hypertension. 16778331 2006
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE The syndrome of apparent mineralocorticoid excess (AME) is an inherited form of hypertension in which 11 beta-hydroxysteroid dehydrogenase (11 beta-HSD) is defective. 8979285 1997
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 GeneticVariation group BEFREE Genotyping indicated no hypertension related mutations in the coding region and short introns of HSD11B2. 23303402 2013