KEGG   DISEASE: Liddle syndrome
Entry
H00242                      Disease                                
Name
Liddle syndrome
  Supergrp
High blood pressure [DS:H01633]
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Hypertensive diseases
   BA04  Secondary hypertension
    H00242  Liddle syndrome
Pathway
hsa04960  Aldosterone-regulated sodium reabsorption
Gene
(LIDLS1) SCNN1B [HSA:6338] [KO:K04825]
(LIDLS2) SCNN1G [HSA:6340] [KO:K04827]
(LIDLS3) SCNN1A [HSA:6337] [KO:K04824]
Other DBs
ICD-11: BA04
ICD-10: I15.2
OMIM: 177200 618114 618126
Reference
  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
Reference
  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
Reference
  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
Reference
  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
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