KEGG   DISEASE: 腹部肥満・メタボリック症候群
エントリ  
H02384                                                             
名称    
腹部肥満・メタボリック症候群;
メタボリックシンドローム X
概要    
Abdominal obesity-metabolic syndrome (AOMS) is also known as syndrome X or insulin resistance syndrome. Insulin resistance is a key abnormality associated with an atherogenic, prothrombotic, and inflammatory profile. The most prevalent form of this constellation of metabolic abnormalities is found in patients with abdominal obesity, especially with an excess of intra-abdominal or visceral adipose tissue. Recently, a few causative gene mutations have been reported.
カテゴリ  
内分泌代謝疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  内分泌疾患
   その他のグルコース調節または膵内分泌の疾患
    5A44  インスリン抵抗性症候群
     H02384  腹部肥満・メタボリック症候群
病因遺伝子 
(AOMS3) DYRK1B [HSA:9149] [KO:K08825]
(AOMS4) CELA2A [HSA:63036] [KO:K01346]
リンク   
ICD-11: 5A44
OMIM: 605552 615812 618620
文献    
  著者
Keramati AR, Fathzadeh M, Go GW, Singh R, Choi M, Faramarzi S, Mane S, Kasaei M, Sarajzadeh-Fard K, Hwa J, Kidd KK, Babaee Bigi MA, Malekzadeh R, Hosseinian A, Babaei M, Lifton RP, Mani A
  タイトル
A form of the metabolic syndrome associated with mutations in DYRK1B.
  雑誌
N Engl J Med 370:1909-1919 (2014)
DOI:10.1056/NEJMoa1301824
文献    
  著者
Esteghamat F, Broughton JS, Smith E, Cardone R, Tyagi T, Guerra M, Szabo A, Ugwu N, Mani MV, Azari B, Kayingo G, Chung S, Fathzadeh M, Weiss E, Bender J, Mane S, Lifton RP, Adeniran A, Nathanson MH, Gorelick FS, Hwa J, Sahin-Toth M, Belfort-DeAguiar R, Kibbey RG, Mani A
  タイトル
CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation.
  雑誌
Nat Genet 51:1233-1243 (2019)
DOI:10.1038/s41588-019-0470-3
文献    
PMID:8476236
  著者
Reaven GM
  タイトル
Role of insulin resistance in human disease (syndrome X): an expanded definition.
  雑誌
Annu Rev Med 44:121-31 (1993)
DOI:10.1146/annurev.me.44.020193.001005
文献    
  著者
Despres JP, Lemieux I, Bergeron J, Pibarot P, Mathieu P, Larose E, Rodes-Cabau J, Bertrand OF, Poirier P
  タイトル
Abdominal obesity and the metabolic syndrome: contribution to global cardiometabolic risk.
  雑誌
Arterioscler Thromb Vasc Biol 28:1039-49 (2008)
DOI:10.1161/ATVBAHA.107.159228
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