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Abdominal obesity-metabolic syndrome 3(AOMS3)

MedGen UID:
862798
Concept ID:
C4014361
Disease or Syndrome
Synonyms: AOMS3; CENTRAL OBESITY, TYPE 2 DIABETES, HYPERTENSION, AND EARLY-ONSET CORONARY ARTERY DISEASE
 
Gene (location): DYRK1B (19q13.2)
 
Monarch Initiative: MONDO:0014352
OMIM®: 615812

Definition

Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene. [from MONDO]

Clinical features

From HPO
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.
Stroke disorder
MedGen UID:
52522
Concept ID:
C0038454
Disease or Syndrome
Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
Coronary artery stenosis
MedGen UID:
66859
Concept ID:
C0242231
Disease or Syndrome
Abnormal narrowing of the coronary artery.
Abdominal obesity
MedGen UID:
90229
Concept ID:
C0311277
Finding
Excessive fat around the stomach and abdomen.
Truncal obesity
MedGen UID:
1637490
Concept ID:
C4551560
Finding
Obesity located preferentially in the trunk of the body as opposed to the extremities.
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.
Hypercholesterolemia
MedGen UID:
5687
Concept ID:
C0020443
Disease or Syndrome
An increased concentration of cholesterol in the blood.
Hyperglycemia
MedGen UID:
5689
Concept ID:
C0020456
Disease or Syndrome
An increased concentration of glucose 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

Taroeno-Hariadi KW, Putra YR, Ariesta NF, Sinorita H, Hardianti MS, Widodo I, Aryandono T
Asian Pac J Cancer Prev 2022 Sep 1;23(9):3157-3165. doi: 10.31557/APJCP.2022.23.9.3157. PMID: 36172679Free PMC Article
Mendoza-Caamal EC, Barajas-Olmos F, Mirzaeicheshmeh E, Ilizaliturri-Flores I, Aguilar-Salinas CA, Gómez-Velasco DV, Cicerón-Arellano I, Reséndiz-Rodríguez A, Martínez-Hernández A, Contreras-Cubas C, Islas-Andrade S, Zerrweck C, García-Ortiz H, Orozco L
Orphanet J Rare Dis 2021 Jun 30;16(1):291. doi: 10.1186/s13023-021-01924-z. PMID: 34193236Free PMC Article
Higano CS
Urol Oncol 2020 Dec;38(12):912-917. Epub 2020 Sep 6 doi: 10.1016/j.urolonc.2020.07.004. PMID: 32900627
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
Szadkowska A, Pietrzak I, Szlawska J, Kozera A, Gadzicka A, Młynarski W
Pediatr Endocrinol Diabetes Metab 2009;15(4):233-9. PMID: 20455417

Diagnosis

Taroeno-Hariadi KW, Putra YR, Ariesta NF, Sinorita H, Hardianti MS, Widodo I, Aryandono T
Asian Pac J Cancer Prev 2022 Sep 1;23(9):3157-3165. doi: 10.31557/APJCP.2022.23.9.3157. PMID: 36172679Free PMC Article
Mendoza-Caamal EC, Barajas-Olmos F, Mirzaeicheshmeh E, Ilizaliturri-Flores I, Aguilar-Salinas CA, Gómez-Velasco DV, Cicerón-Arellano I, Reséndiz-Rodríguez A, Martínez-Hernández A, Contreras-Cubas C, Islas-Andrade S, Zerrweck C, García-Ortiz H, Orozco L
Orphanet J Rare Dis 2021 Jun 30;16(1):291. doi: 10.1186/s13023-021-01924-z. PMID: 34193236Free PMC Article
Esser N, Paquot N, Scheen AJ
Expert Opin Investig Drugs 2015 Mar;24(3):283-307. Epub 2014 Oct 25 doi: 10.1517/13543784.2015.974804. PMID: 25345753
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

Marti A, Martínez I, Ojeda-Rodríguez A, Azcona-Sanjulian MC
Nutrients 2021 Jan 20;13(2) doi: 10.3390/nu13020289. PMID: 33498461Free PMC Article
Higano CS
Urol Oncol 2020 Dec;38(12):912-917. Epub 2020 Sep 6 doi: 10.1016/j.urolonc.2020.07.004. PMID: 32900627
Esser N, Paquot N, Scheen AJ
Expert Opin Investig Drugs 2015 Mar;24(3):283-307. Epub 2014 Oct 25 doi: 10.1517/13543784.2015.974804. PMID: 25345753

Prognosis

Taroeno-Hariadi KW, Putra YR, Ariesta NF, Sinorita H, Hardianti MS, Widodo I, Aryandono T
Asian Pac J Cancer Prev 2022 Sep 1;23(9):3157-3165. doi: 10.31557/APJCP.2022.23.9.3157. PMID: 36172679Free PMC Article
Mendoza-Caamal EC, Barajas-Olmos F, Mirzaeicheshmeh E, Ilizaliturri-Flores I, Aguilar-Salinas CA, Gómez-Velasco DV, Cicerón-Arellano I, Reséndiz-Rodríguez A, Martínez-Hernández A, Contreras-Cubas C, Islas-Andrade S, Zerrweck C, García-Ortiz H, Orozco L
Orphanet J Rare Dis 2021 Jun 30;16(1):291. doi: 10.1186/s13023-021-01924-z. PMID: 34193236Free PMC Article
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

Clinical prediction guides

Taroeno-Hariadi KW, Putra YR, Ariesta NF, Sinorita H, Hardianti MS, Widodo I, Aryandono T
Asian Pac J Cancer Prev 2022 Sep 1;23(9):3157-3165. doi: 10.31557/APJCP.2022.23.9.3157. PMID: 36172679Free PMC Article
Mendoza-Caamal EC, Barajas-Olmos F, Mirzaeicheshmeh E, Ilizaliturri-Flores I, Aguilar-Salinas CA, Gómez-Velasco DV, Cicerón-Arellano I, Reséndiz-Rodríguez A, Martínez-Hernández A, Contreras-Cubas C, Islas-Andrade S, Zerrweck C, García-Ortiz H, Orozco L
Orphanet J Rare Dis 2021 Jun 30;16(1):291. doi: 10.1186/s13023-021-01924-z. PMID: 34193236Free PMC Article
Higano CS
Urol Oncol 2020 Dec;38(12):912-917. Epub 2020 Sep 6 doi: 10.1016/j.urolonc.2020.07.004. PMID: 32900627
Esser N, Paquot N, Scheen AJ
Expert Opin Investig Drugs 2015 Mar;24(3):283-307. Epub 2014 Oct 25 doi: 10.1517/13543784.2015.974804. PMID: 25345753
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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