| H00242 | |
| H number | H00242 |
| Name | Liddle syndrome |
| Description | Liddle syndrome (LIDLS) is a rare form of autosomal dominant hypertension characterized by hypokalemic metabolic alkalosis, low-renin activity, and suppressed aldosterone secretion. The mutations in the epithelial Na+ channel gene cause failure of the protein endocytosis and accumulation of active channels at the cell surface, leading persistent absorption of Na+ and resulting in large blood volume and high blood pressure. |
| Category | Cardiovascular disease |
| Network | - |
| Gene | (LIDLS1) SCNN1B [HSA:6338] [KO:K04825] (LIDLS2) SCNN1G [HSA:6340] [KO:K04827] (LIDLS3) SCNN1A [HSA:6337] [KO:K04824] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: BA04 ICD-10: I15.2 OMIM: 177200 618114 618126 |
| Reference | PMID:19007435 AUTHORS Rotin D TITLE Role of the UPS in Liddle syndrome. JOURNAL BMC Biochem 9 Suppl 1:S5 (2008) DOI:10.1186/1471-2091-9-S1-S5 PMID:15980941 AUTHORS Lang F, Capasso G, Schwab M, Waldegger S TITLE Renal tubular transport and the genetic basis of hypertensive disease. JOURNAL Clin Exp Nephrol 9:91-9 (2005) DOI:10.1007/s10157-005-0355-x PMID:11780687 AUTHORS Warnock DG TITLE Liddle syndrome: genetics and mechanisms of Na+ channel defects. JOURNAL Am J Med Sci 322:302-7 (2001) DOI:10.1097/00000441-200112000-00002 PMID:28710092 AUTHORS Salih M, Gautschi I, van Bemmelen MX, Di Benedetto M, Brooks AS, Lugtenberg D, Schild L, Hoorn EJ TITLE A Missense Mutation in the Extracellular Domain of alphaENaC Causes Liddle Syndrome. JOURNAL J Am Soc Nephrol 28:3291-3299 (2017) DOI:10.1681/ASN.2016111163 |