KEGG   DISEASE: Abdominal obesity-metabolic syndrome
Entry
H02384                      Disease                                
Name
Abdominal obesity-metabolic syndrome;
Metabolic syndrome X
Description
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.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Other disorders of glucose regulation or pancreatic internal secretion
    5A44  Insulin-resistance syndromes
     H02384  Abdominal obesity-metabolic syndrome
Gene
(AOMS3) DYRK1B [HSA:9149] [KO:K08825]
(AOMS4) CELA2A [HSA:63036] [KO:K01346]
Other DBs
ICD-11: 5A44
OMIM: 605552 615812 618620
Reference
  Authors
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
  Title
A form of the metabolic syndrome associated with mutations in DYRK1B.
  Journal
N Engl J Med 370:1909-1919 (2014)
DOI:10.1056/NEJMoa1301824
Reference
  Authors
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
  Title
CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation.
  Journal
Nat Genet 51:1233-1243 (2019)
DOI:10.1038/s41588-019-0470-3
Reference
PMID:8476236
  Authors
Reaven GM
  Title
Role of insulin resistance in human disease (syndrome X): an expanded definition.
  Journal
Annu Rev Med 44:121-31 (1993)
DOI:10.1146/annurev.me.44.020193.001005
Reference
  Authors
Despres JP, Lemieux I, Bergeron J, Pibarot P, Mathieu P, Larose E, Rodes-Cabau J, Bertrand OF, Poirier P
  Title
Abdominal obesity and the metabolic syndrome: contribution to global cardiometabolic risk.
  Journal
Arterioscler Thromb Vasc Biol 28:1039-49 (2008)
DOI:10.1161/ATVBAHA.107.159228
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