Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.R208C
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HSD11B2

NM_000196.4:p.R208C

Associated Papers

Population-based estimates of the global prevalence and carrier frequency of apparent mineralocorticoid excess caused by 11β-hydroxysteroid dehydrogenase type 2 deficiency.

Charoenngam N et al.

Orphanet Journal of Rare Diseases, 2025

Diagnosing apparent mineralocorticoid excess in a child with hypertension and nephrocalcinosis: from symptoms to genetics.

Vallabhaneni P et al.

Cen Case Reports, 2025

Apparent Mineralocorticoid Excess Syndrome: Case Report.

Alsaadoun SA et al.

International Medical Case Reports Journal, 2025

Apparent mineralocorticoid excess: comprehensive overview of molecular genetics.

Lu YT et al.

Journal of Translational Medicine, 2022

Apparent mineralocorticoid excess caused by novel compound heterozygous mutations in HSD11B2 and characterized by early-onset hypertension and hypokalemia.

Fan P et al.

Endocrine, 2020

Classic and Nonclassic Apparent Mineralocorticoid Excess Syndrome.

Carvajal CA et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency.

Yau M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2017

Apparent Mineralocorticoid Excess by a Novel Mutation and Epigenetic Modulation by HSD11B2 Promoter Methylation.

Pizzolo F et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Apparent mineralocorticoid excess syndrome: report of one family with three affected children.

Al-Harbi T et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012

The role of 11β-hydroxysteroid dehydrogenase type 2 in human hypertension.

Ferrari P

Biochimica Et Biophysica Acta, 2010

Apparent mineralocorticoid excess: report of six new cases and extensive personal experience.

Morineau G et al.

Journal of the American Society of Nephrology : Jasn, 2006

Cortisol metabolism in hypertension.

Hammer F et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2006

[Deficiency of 11beta-hydroxysteroid dehydrogenase type 2 (syndrome of apparent mineralocorticoid excess)].

Mune T

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006

Apparent mineralocorticoid excess syndrome: an overview.

Palermo M et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2004

Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population.

Quinkler M et al.

Molecular and Cellular Endocrinology, 2004

Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene.

Lavery GG et al.

Hypertension (dallas, Tex. : 1979), 2003

Hypertension and the cortisol-cortisone shuttle.

Quinkler M et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

11beta-hydroxysteroid dehydrogenase and its role in the syndrome of apparent mineralocorticoid excess.

White PC

The American Journal of the Medical Sciences, 2001

Apparent mineralocorticoid excess.

Wilson RC et al.

Trends in Endocrinology and Metabolism: Tem, 2001

Role of the 11beta-hydroxysteroid dehydrogenase type 2 in blood pressure regulation.

Ferrari P et al.

Kidney International, 2000

The role of the 11beta-hydroxysteroid dehydrogenase type 2 in human hypertension.

Ferrari P et al.

Journal of Hypertension, 2000

Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess.

New MI et al.

Proceedings of the National Academy of Sciences of the United States of America, 1999

A genetic defect resulting in mild low-renin hypertension.

Wilson RC et al.

Proceedings of the National Academy of Sciences of the United States of America, 1998

Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess.

Dave-Sharma S et al.

The Journal of Clinical Endocrinology and Metabolism, 1998

A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess.

Kitanaka S et al.

The Journal of Clinical Endocrinology and Metabolism, 1997

11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess.

White PC et al.

Endocrine Reviews, 1997

Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess.

Cerame BI et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 0

Mutations in the 11 beta-hydroxysteroid dehydrogenase type II enzyme associated with hypertension and possibly stillbirth.

Krozowski ZS et al.

Clinical and Experimental Hypertension (new York, N.y. : 1993), 0

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