Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Cortisol 11-beta-ketoreductase

The enzyme encoded by this gene metabolises cortisol to cortisone in the kidney and thereby prevents excessive mineralocorticoid receptor stimulation by cortisol. Deficiency results in clinical symptoms similar to hyperaldosteronism, which is remediable by dexamethasone suppressing cortisol secretion.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA
Clinic Method Methylation test
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Apparent mineralocorticoid excess
HSD11B2

References:

1.

Palermo M et al. (2004) Apparent mineralocorticoid excess syndrome: an overview.

external link
2.

Kamide K et al. (2006) Genetic variations of HSD11B2 in hypertensive patients and in the general population, six rare missense/frameshift mutations.

external link
3.

Iwai N et al. (2004) Genetic analysis of 22 candidate genes for hypertension in the Japanese population.

external link
4.

Alikhani-Koopaei R et al. (2004) Epigenetic regulation of 11 beta-hydroxysteroid dehydrogenase type 2 expression.

external link
5.

Carvajal CA et al. (2005) Biochemical and genetic characterization of 11 beta-hydroxysteroid dehydrogenase type 2 in low-renin essential hypertensives.

external link
6.

Williams TA et al. (2005) Role of HSD11B2 polymorphisms in essential hypertension and the diuretic response to thiazides.

external link
7.

Ge RS et al. (2005) Gene expression in rat leydig cells during development from the progenitor to adult stage: a cluster analysis.

external link
8.

Bassett MH et al. (2005) Expression profiles for steroidogenic enzymes in adrenocortical disease.

external link
9.

NCBI article

NCBI 3291 external link
10.

OMIM.ORG article

Omim 614232 external link
11.

Orphanet article

Orphanet ID 122502 external link
12.

Wikipedia article

Wikipedia EN (Corticosteroid_11-beta-dehydrogenase_isozyme_2) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits