KEGG   DISEASE: H00242Help
Entry
H00242                      Disease                                

Name
Liddle syndrome
Description
Liddle syndrome (LS) 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
Endocrine disease; Urinary system disease
BRITE hierarchy
Pathway
hsa04960 Aldosterone-regulated sodium reabsorption  
 
Gene
SCNN1B [HSA:6338] [KO:K04825]
SCNN1G [HSA:6340] [KO:K04827]
Drug
Triamterene [DR:D00386]
Other DBs
ICD-10: 
OMIM: 
Reference
  Authors
Rotin D
  Title
Role of the UPS in Liddle syndrome.
  Journal
BMC Biochem 9 Suppl 1:S5 (2008)
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)
Reference
  Authors
Warnock DG
  Title
Liddle syndrome: genetics and mechanisms of Na+ channel defects.
  Journal
Am J Med Sci 322:302-7 (2001)

» Japanese version

DBGET integrated database retrieval system