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Article

Apparent mineralocorticoid excess: genotype is correlated with biochemical phenotype.

Hypertension (Dallas, Tex. : 1979) - 1 Jun 1996

Mune T, White P C

Abstract excerpt

The syndrome of apparent mineralocorticoid excess is a form of hypertension inherited in an autosomal recessive manner. This disorder results from mutations in the HSD11K (HSD11B2) gene, which encodes the kidney isozyme of 11beta-hydroxysteroid dehydrogenase. This enzyme converts active glucocorticoids such as cortisol and corticosterone to their inactive metabolites cortisone and 11-dehydrocorticosterone. An...

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PMID: 8641723
DOI: 10.1161/01.hyp.27.6.1193

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Apparent mineralocorticoid excess: genotype is correlated with biochemical phenotype.PMID 8641723Read ↗

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Molecular analysis of 11 beta-hydroxysteroid dehydrogenase and its role in the syndrome of apparent mineralocorticoid excess.Semantic proximity Read ↗

11 beta-Hydroxysteroid dehydrogenase and its role in the syndrome of apparent mineralocorticoid excess.Semantic proximity Read ↗

Genotype-phenotype correlations of mutations and polymorphisms in HSD11B2, the gene encoding the kidney isozyme of 11beta-hydroxysteroid dehydrogenase.Semantic proximity Read ↗

Apparent mineralocorticoid excess: report of six new cases and extensive personal experience.Semantic proximity Read ↗

Human hypertension caused by mutations in the 11 beta-hydroxysteroid dehydrogenase gene: a molecular analysis of apparent mineralocorticoid excess.Semantic proximity Read ↗

Inherited forms of mineralocorticoid hypertension.Semantic proximity Read ↗

Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase.Semantic proximity Read ↗

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

Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess.Semantic proximity Read ↗

The 11 beta-hydroxysteroid dehydrogenase type II enzyme: biochemical consequences of the congenital R337C mutation.Semantic proximity Read ↗

11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess.Semantic proximity Read ↗

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