KEGG   DISEASE: リドル症候群
エントリ  
H00242                                                             
名称    
リドル症候群
  上位グループ
高血圧症 [DS:H01633]
概要    
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.
カテゴリ  
循環器系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 11 循環器系の疾患
  高血圧性疾患
   BA04  二次性高血圧
    H00242  リドル症候群
パスウェイ 
hsa04960  Aldosterone-regulated sodium reabsorption
病因遺伝子 
(LIDLS1) SCNN1B [HSA:6338] [KO:K04825]
(LIDLS2) SCNN1G [HSA:6340] [KO:K04827]
(LIDLS3) SCNN1A [HSA:6337] [KO:K04824]
リンク   
ICD-11: BA04
OMIM: 177200 618114 618126
文献    
  著者
Rotin D
  タイトル
Role of the UPS in Liddle syndrome.
  雑誌
BMC Biochem 9 Suppl 1:S5 (2008)
DOI:10.1186/1471-2091-9-S1-S5
文献    
  著者
Lang F, Capasso G, Schwab M, Waldegger S
  タイトル
Renal tubular transport and the genetic basis of hypertensive disease.
  雑誌
Clin Exp Nephrol 9:91-9 (2005)
DOI:10.1007/s10157-005-0355-x
文献    
  著者
Warnock DG
  タイトル
Liddle syndrome: genetics and mechanisms of Na+ channel defects.
  雑誌
Am J Med Sci 322:302-7 (2001)
DOI:10.1097/00000441-200112000-00002
文献    
  著者
Salih M, Gautschi I, van Bemmelen MX, Di Benedetto M, Brooks AS, Lugtenberg D, Schild L, Hoorn EJ
  タイトル
A Missense Mutation in the Extracellular Domain of alphaENaC Causes Liddle Syndrome.
  雑誌
J Am Soc Nephrol 28:3291-3299 (2017)
DOI:10.1681/ASN.2016111163
LinkDB    

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