| H00259 | |
| H number | H00259 |
| Name | Apparent mineralocorticoid excess syndrome; 11-beta-ketoreductase deficiency |
| Description | Apparent mineralocorticoid excess (AME) syndrome is characterized by hypertension, low plasma renin and aldosterone and hypokalaemia caused by deficiency of 11b-hydroxysteroid dehydrogenase type 2 which is a microsomal enzyme complex responsible for the interconversion of cortisol and cortisone. |
| Category | Endocrine and metabolic disease |
| Network | nt06019(H00259) Steroid hormone biosynthesis |
| Gene | HSD11B2 [HSA:3291] [KO:K00071] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5A72.1 ICD-10: E26.1 MeSH: D043204 OMIM: 218030 |
| Reference | PMID:16980198 AUTHORS Hammer F, Stewart PM TITLE Cortisol metabolism in hypertension. JOURNAL Best Pract Res Clin Endocrinol Metab 20:337-53 (2006) DOI:10.1016/j.beem.2006.07.001 PMID:15761540 AUTHORS Palermo M, Quinkler M, Stewart PM TITLE Apparent mineralocorticoid excess syndrome: an overview. JOURNAL Arq Bras Endocrinol Metabol 48:687-96 (2004) DOI:10.1590/S0004-27302004000500015 |