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Abdominal obesity-metabolic syndrome 4(AOMS4)

MedGen UID:
1704861
Concept ID:
C5231430
Disease or Syndrome
Synonym: AOMS4
 
Gene (location): CELA2A (1p36.21)
 
Monarch Initiative: MONDO:0032837
OMIM®: 618620

Definition

Abdominal obesity-metabolic syndrome-4 (AOMS4) is characterized by obesity, hypertension, and early-onset coronary artery disease. Most affected individuals meet the criteria for metabolic syndrome, including elevated triglyceride and low high-density lipoprotein levels, and type 2 diabetes (Esteghamat et al., 2019). For a discussion of the genetic heterogeneity of abdominal obesity-metabolic syndrome, see AOMS1 (605552). [from OMIM]

Clinical features

From HPO
Coronary artery atherosclerosis
MedGen UID:
3623
Concept ID:
C0010054
Disease or Syndrome
Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Myocardial infarction
MedGen UID:
10150
Concept ID:
C0027051
Disease or Syndrome
Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.
Accelerated atherosclerosis
MedGen UID:
376623
Concept ID:
C1849618
Finding
Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
Elevated hemoglobin A1c
MedGen UID:
892798
Concept ID:
C4073162
Finding
An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.
Type 2 diabetes mellitus
MedGen UID:
41523
Concept ID:
C0011860
Disease or Syndrome
WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive neurodegenerative disorder, is characterized by onset of diabetes mellitus and optic atrophy before age 16 years. Additional complications may include one or more of the following: variable hearing impairment / deafness, diabetes insipidus, neurologic abnormalities, neurogenic bladder, and psychiatric abnormalities. Nonclassic WFS1-SD is less common than classic WFS1-SD. Phenotypes that appear to be milder than classic WFS1-SD include: optic atrophy and hearing impairment; neonatal diabetes, profound congenital deafness, and cataracts; isolated diabetes mellitus; isolated congenital cataracts; and isolated congenital, slowly progressive, and low-frequency (<2000 Hz) sensorineural hearing loss.
Decreased HDL cholesterol concentration
MedGen UID:
57731
Concept ID:
C0151691
Finding
An decreased concentration of high-density lipoprotein cholesterol in the blood.
Increased LDL cholesterol concentration
MedGen UID:
154289
Concept ID:
C0549399
Finding
An elevated concentration of low-density lipoprotein cholesterol in the blood.
Hypertriglyceridemia
MedGen UID:
167238
Concept ID:
C0813230
Finding
An abnormal increase in the level of triglycerides in the blood.

Recent clinical studies

Etiology

Azim S, Kashyap SR
Endocrinol Metab Clin North Am 2016 Dec;45(4):905-921. Epub 2016 Oct 8 doi: 10.1016/j.ecl.2016.06.011. PMID: 27823611Free PMC Article
Lee HY, Lee WJ, Kim HW, Jang ES, Ahn YC, Ku BC, Kang W, Lee SW, Son CG
J Altern Complement Med 2016 Dec;22(12):950-956. Epub 2016 Oct 18 doi: 10.1089/acm.2016.0177. PMID: 27754711
Gustafson B, Hedjazifar S, Gogg S, Hammarstedt A, Smith U
Trends Endocrinol Metab 2015 Apr;26(4):193-200. Epub 2015 Feb 18 doi: 10.1016/j.tem.2015.01.006. PMID: 25703677
Szadkowska A, Pietrzak I, Szlawska J, Kozera A, Gadzicka A, Młynarski W
Pediatr Endocrinol Diabetes Metab 2009;15(4):233-9. PMID: 20455417
Ritchie SA, Connell JM
Nutr Metab Cardiovasc Dis 2007 May;17(4):319-26. Epub 2006 Nov 15 doi: 10.1016/j.numecd.2006.07.005. PMID: 17110092

Diagnosis

Gawlik-Kotelnicka O, Czarnecka-Chrebelska K, Margulska A, Pikus E, Wasiak J, Skowrońska A, Brzeziańska-Lasota E, Strzelecki D
Prog Neuropsychopharmacol Biol Psychiatry 2025 Jan 10;136:111170. Epub 2024 Oct 10 doi: 10.1016/j.pnpbp.2024.111170. PMID: 39393435
Gustafson B, Hedjazifar S, Gogg S, Hammarstedt A, Smith U
Trends Endocrinol Metab 2015 Apr;26(4):193-200. Epub 2015 Feb 18 doi: 10.1016/j.tem.2015.01.006. PMID: 25703677
Yu Z, Sun L, Qi Q, Wu H, Lu L, Liu C, Li H, Lin X
Eur J Clin Invest 2012 Oct;42(10):1100-11. Epub 2012 Jul 12 doi: 10.1111/j.1365-2362.2012.02702.x. PMID: 22784553
Lin CC, Yu SC, Wu BJ, Chang DJ
Psychiatry Res 2012 May 30;197(3):322-6. Epub 2012 Feb 25 doi: 10.1016/j.psychres.2011.09.012. PMID: 22370155
Szadkowska A, Pietrzak I, Szlawska J, Kozera A, Gadzicka A, Młynarski W
Pediatr Endocrinol Diabetes Metab 2009;15(4):233-9. PMID: 20455417

Therapy

Gawlik-Kotelnicka O, Czarnecka-Chrebelska K, Margulska A, Pikus E, Wasiak J, Skowrońska A, Brzeziańska-Lasota E, Strzelecki D
Prog Neuropsychopharmacol Biol Psychiatry 2025 Jan 10;136:111170. Epub 2024 Oct 10 doi: 10.1016/j.pnpbp.2024.111170. PMID: 39393435
Blaha MJ, Rivera JJ, Budoff MJ, Blankstein R, Agatston A, O'Leary DH, Cushman M, Lakoski S, Criqui MH, Szklo M, Blumenthal RS, Nasir K
Arterioscler Thromb Vasc Biol 2011 Jun;31(6):1430-8. Epub 2011 Apr 7 doi: 10.1161/ATVBAHA.111.223768. PMID: 21474823Free PMC Article
Ritchie SA, Connell JM
Nutr Metab Cardiovasc Dis 2007 May;17(4):319-26. Epub 2006 Nov 15 doi: 10.1016/j.numecd.2006.07.005. PMID: 17110092

Prognosis

Lin CC, Yu SC, Wu BJ, Chang DJ
Psychiatry Res 2012 May 30;197(3):322-6. Epub 2012 Feb 25 doi: 10.1016/j.psychres.2011.09.012. PMID: 22370155
Cheung BM, Leung RY, Man YB, Wong LY, Lau CP
J Hum Hypertens 2005 May;19(5):407-11. doi: 10.1038/sj.jhh.1001835. PMID: 15716982

Clinical prediction guides

Ertekin H, Uysal S, Aydın M, İlhan B, Ertekin YH
Int J Psychiatry Med 2020 Jul;55(4):264-280. Epub 2020 Feb 12 doi: 10.1177/0091217420905463. PMID: 32050814
Bianchini JA, da Silva DF, Nardo CC, Carolino ID, Hernandes F, Nardo N Jr
Eur J Pediatr 2013 Feb;172(2):215-21. Epub 2012 Oct 25 doi: 10.1007/s00431-012-1865-7. PMID: 23097084
Lin CC, Yu SC, Wu BJ, Chang DJ
Psychiatry Res 2012 May 30;197(3):322-6. Epub 2012 Feb 25 doi: 10.1016/j.psychres.2011.09.012. PMID: 22370155
Szadkowska A, Pietrzak I, Szlawska J, Kozera A, Gadzicka A, Młynarski W
Pediatr Endocrinol Diabetes Metab 2009;15(4):233-9. PMID: 20455417

Recent systematic reviews

Lee HY, Lee WJ, Kim HW, Jang ES, Ahn YC, Ku BC, Kang W, Lee SW, Son CG
J Altern Complement Med 2016 Dec;22(12):950-956. Epub 2016 Oct 18 doi: 10.1089/acm.2016.0177. PMID: 27754711

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