MCID: ABD017
MIFTS: 48

Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2

MalaCards integrated aliases for Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2:

Name: Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 57
Abdominal Obesity-Metabolic Syndrome 57 12 13
Abdominal Obesity Metabolic Syndrome 53 73
Metabolic Syndrome X 53 73
Aoms1 53
Aoms2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
abdominal obesity-metabolic syndrome quantitative trait locus 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 605572
Disease Ontology 12 DOID:0060611
MedGen 42 C1854170
UMLS 73 C2930930

Summaries for Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2

MalaCards based summary : Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2, also known as abdominal obesity-metabolic syndrome, is related to abdominal obesity-metabolic syndrome 1 and abdominal obesity-metabolic syndrome 3, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 is AOMS2 (Abdominal Obesity-Metabolic Syndrome QTL2), and among its related pathways/superpathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and AMP-activated Protein Kinase (AMPK) Signaling. The drugs Eplerenone and Spironolactone have been mentioned in the context of this disorder. Affiliated tissues include endothelial, heart and liver, and related phenotypes are hypertension and abdominal obesity

Description from OMIM: 605572

Related Diseases for Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2

Diseases related to Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 abdominal obesity-metabolic syndrome 1 32.8 AOMS1 INS LEP SLC2A4
2 abdominal obesity-metabolic syndrome 3 12.7
3 lipodystrophy, familial partial, type 2 10.3 INS LEP
4 nonalcoholic steatohepatitis 10.3 INS LEP
5 malignant otitis externa 10.3 CRP INS
6 fetal macrosomia 10.3 INS LEP
7 congenital generalized lipodystrophy 10.2 INS LEP
8 acute insulin response 10.2 CRP INS
9 familial partial lipodystrophy 10.2 INS LEP
10 ischemic heart disease 10.2 CRP INS
11 alstrom syndrome 10.2 INS LEP
12 anovulation 10.0 INS LEP
13 acanthosis nigricans 10.0 INS LEP
14 sleep disorder 10.0 CRP LEP
15 nutritional deficiency disease 9.9 CRP LEP
16 3-hydroxyacyl-coa dehydrogenase deficiency 9.8 INS LEP
17 prediabetes syndrome 9.8 CRP INS LEP
18 apnea, obstructive sleep 9.8 CRP INS LEP
19 pancreas disease 9.8 CRP INS LEP
20 inherited metabolic disorder 9.8 CRP INS LEP
21 sleep apnea 9.8 CRP INS LEP
22 uremia 9.8 CRP INS LEP
23 lipid metabolism disorder 9.8 CRP INS LEP
24 arteries, anomalies of 9.7 CRP INS LEP
25 morbid obesity 9.7 CRP INS LEP
26 chronic kidney failure 9.7 CRP INS LEP
27 endocrine pancreas disease 9.7 INS LEP SLC2A4
28 glucose intolerance 9.6 INS LEP SLC2A4
29 gestational diabetes 9.6 INS LEP SLC2A4
30 hypertension, essential 9.6 CRP INS LEP
31 coronary heart disease 1 9.5 CRP INS
32 overnutrition 9.1 CRP INS LEP SLC2A4
33 glucose metabolism disease 9.1 CRP INS LEP SLC2A4
34 acquired metabolic disease 9.1 CRP INS LEP SLC2A4
35 diabetes mellitus 8.9 CRP INS LEP SLC2A4
36 body mass index quantitative trait locus 11 8.4 CRP INS LEP PPARD SLC2A4
37 diabetes mellitus, noninsulin-dependent 8.4 CRP INS LEP PPARD SLC2A4

Graphical network of the top 20 diseases related to Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2:



Diseases related to Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2

Symptoms & Phenotypes for Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
abdominal obesity

Laboratory Abnormalities:
elevated fasting glucose levels

Cardiovascular Vascular:
hypertension


Clinical features from OMIM:

605572

Human phenotypes related to Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2:

32
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 abdominal obesity 32 HP:0012743

UMLS symptoms related to Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2:


angina pectoris, chest pain, edema

MGI Mouse Phenotypes related to Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.72 DBI INS LEP PPARD SLC2A4
2 homeostasis/metabolism MP:0005376 9.7 CRP DBI INS LEP PPARD SLC27A4
3 digestive/alimentary MP:0005381 9.65 INS LEP PPARD SLC27A4 SLC2A4
4 integument MP:0010771 9.35 DBI INS LEP PPARD SLC27A4
5 liver/biliary system MP:0005370 9.02 DBI INS LEP PPARD SLC2A4

Drugs & Therapeutics for Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2

Drugs for Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 514)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 4,Phase 3 107724-20-9 150310 443872
2
Spironolactone Approved Phase 4,Phase 3,Not Applicable 1952-01-7, 52-01-7 5833
3
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
4
Amlodipine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 88150-42-9 2162
5
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 1,Not Applicable 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
6
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 3,Phase 1,Not Applicable,Early Phase 1 58-93-5 3639
7
Valsartan Approved, Investigational Phase 4,Phase 3,Phase 1 137862-53-4 60846
8
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-18-4 6010
9
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-22-0 6013
10
Testosterone enanthate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 315-37-7 9416
11
Testosterone undecanoate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 5949-44-0
12
Metformin Approved Phase 4,Phase 3,Phase 2,Not Applicable 657-24-9 14219 4091
13
Ezetimibe Approved Phase 4,Phase 3,Not Applicable 163222-33-1 150311
14
Simvastatin Approved Phase 4,Phase 3,Not Applicable 79902-63-9 54454
15
Hydrocortisone Approved, Vet_approved Phase 4,Not Applicable 50-23-7 5754
16
Metyrapone Approved, Investigational Phase 4 54-36-4 4174
17
Aripiprazole Approved, Investigational Phase 4,Phase 3,Not Applicable 129722-12-9 60795
18
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
19
Orlistat Approved, Investigational Phase 4,Phase 1,Phase 2,Not Applicable 96829-58-2 3034010
20
Zinc Approved, Investigational Phase 4,Phase 2,Not Applicable 7440-66-6 23994
21
Fenofibrate Approved Phase 4,Phase 3,Phase 2,Not Applicable 49562-28-9 3339
22
Dopamine Approved Phase 4,Phase 3,Not Applicable 51-61-6, 62-31-7 681
23
Olanzapine Approved, Investigational Phase 4,Not Applicable 132539-06-1 4585
24
Risperidone Approved, Investigational Phase 4,Phase 3,Not Applicable 106266-06-2 5073
25
Pioglitazone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 111025-46-8 4829
26
Irbesartan Approved, Investigational Phase 4,Not Applicable 138402-11-6 3749
27
Clozapine Approved Phase 4,Not Applicable 5786-21-0 2818
28
Galantamine Approved Phase 4 357-70-0 9651
29
Clopidogrel Approved Phase 4,Not Applicable 120202-66-6, 113665-84-2 60606
30
Ticlopidine Approved Phase 4 55142-85-3 5472
31
Estradiol Approved, Investigational, Vet_approved Phase 4,Not Applicable 50-28-2 5757
32 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Not Applicable 979-32-8
33
Ethinyl Estradiol Approved Phase 4,Not Applicable 57-63-6 5991
34
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
35
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
36
Polyestradiol phosphate Approved Phase 4,Not Applicable 28014-46-2
37
Telmisartan Approved, Investigational Phase 4,Phase 3 144701-48-4 65999
38
Rosiglitazone Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 122320-73-4 77999
39
Cilnidipine Approved, Investigational Phase 4 132203-70-4 5282138
40
Nifedipine Approved Phase 4 21829-25-4 4485
41
Aspirin Approved, Vet_approved Phase 4,Phase 2 50-78-2 2244
42
Nitric Oxide Approved Phase 4 10102-43-9 145068 160954
43
Ziprasidone Approved Phase 4,Phase 3,Not Applicable 146939-27-7 60854
44
Moxonidine Approved, Investigational Phase 4 75438-57-2 4810
45
Atenolol Approved Phase 4 29122-68-7 2249
46
Bisoprolol Approved Phase 4 66722-44-9 2405
47
Febuxostat Approved Phase 4,Not Applicable 144060-53-7 134018
48 Titanium dioxide Approved Phase 4,Phase 3 13463-67-7
49
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
50
Fluvastatin Approved Phase 4 93957-54-1 1548972

Interventional clinical trials:

(show top 50) (show all 1105)
# Name Status NCT ID Phase Drugs
1 Diurnal Variation of Plasminogen Activator Inhibitor-1 Unknown status NCT00515021 Phase 4 Eplerenone (Morning vs. evening drug regimen)
2 Effects of Cilostazol on Plasma Adipocytokine and Arterial Stiffness Unknown status NCT00573950 Phase 4 cilostazol;Placebo
3 Regression of Fatty Heart by Valsartan Therapy Unknown status NCT00745953 Phase 4 Valsartan;Hydrochlorothiazide
4 Odense Androgen Study - The Effect of Testim and Training in Hypogonadal Men Unknown status NCT00700024 Phase 4 Testim;placebo
5 The ACT-OUT Trial: ACTivity OUTcomes Based on High Carbohydrate or High Fat Diet in Metabolic Syndrome Unknown status NCT01357382 Phase 4
6 Metformin in Postmenopausal Women With Metabolic Syndrome Unknown status NCT01342744 Phase 4 Metformin;Placebo
7 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4 Vitamin D3
8 Trial of Supplementation With Aged Garlic Extract to Improve Endothelial Function in Patients With Metabolic Syndrome Unknown status NCT01168700 Phase 4 aged garlic extract;Placebo
9 Effects of Ezetimibe, Simvastatin, and Vytorin on Reducing L5 a Subfraction of LDL in Patients With Metabolic Syndrome. Unknown status NCT00988364 Phase 4 Simvastatin;Vytorin;Placebo;Ezetimibe
10 Kagoshima Collaborate Trial in Metabolic Syndrome (KACT Study) Unknown status NCT00790946 Phase 4 Valsartan
11 Effect of Growth Hormone in Metabolic Syndrome Unknown status NCT00307411 Phase 4 Growth hormone
12 Cortisol and Nutritional Sympathetic Responsiveness Unknown status NCT01620684 Phase 4 metyrapone;placebo
13 The Monitor of Serum Prolactin Level in a 3 Months Aripiprazole Trial Unknown status NCT00468533 Phase 4 Aripiprazole
14 Continuous Positive Airway Pressure in Sleep Apnea Syndrome: Effects on Metabolic Syndrome and Cardiac Damage Unknown status NCT00517777 Phase 4
15 Ranolazine, Ethnicity and the Metabolic Syndrome Unknown status NCT01304095 Phase 4 Ranolazine
16 Increasing Cure Rate of Hepatitis C Therapy in Obese Hepatitis C Patients Unknown status NCT00871845 Phase 4 Orlistat
17 Galantamine Effects in Patients With Metabolic Syndrome Completed NCT02283242 Phase 4 Galantamine;Placebo (for galantamine)
18 ROMEO (Rosuvastatin in Metabolic syndrOme) Completed NCT00395486 Phase 4 Rosuvastatin;Atorvastatin
19 PROCLAIM: Study Examining Effects of Clopidogrel Compared to Placebo on Inflammation in Subjects With Metabolic Syndrome Completed NCT00296803 Phase 4 clopidogrel
20 Effect of Dapagliflozin Administration on Metabolic Syndrome, Insulin Sensitivity, and Insulin Secretion Completed NCT02113241 Phase 4 Dapagliflozin;Placebo
21 Oral Contraceptives in the Metabolic Syndrome Completed NCT00205504 Phase 4 Ortho Tri Cyclen
22 Phase IV, 9 Weeks Comparison Between MICARDIS 80 mg and Amlodipine 10 mg on Biological PPAR Gamma Activities Completed NCT00242814 Phase 4 Micardis;Amlodipine
23 Study of Niacin and Rosiglitazone in Dysmetabolic Dyslipidemia Completed NCT00304993 Phase 4 fenofibrate;niacin;rosiglitazone
24 The Effects of Cilnidipine on Metabolic Syndrome Improvement Completed NCT00325936 Phase 4 Cilnidipine
25 Aspirin Dose and Atherosclerosis in Patients With Metabolic Syndrome Completed NCT00272311 Phase 4 Aspirin
26 Ziprasidone for Improving Insulin Sensitivity in People With Schizophrenia Who Are at Risk for Diabetes Completed NCT00338949 Phase 4 Ziprasidone;Standard atypical antipsychotic drug
27 The Effects of Aripiprazole on Patients With Metabolic Syndrome Completed NCT00224822 Phase 4 Aripiprazole
28 Treatment of Adiposity Related hypErTension (TARGET) Completed NCT01138423 Phase 4 Aliskiren;Moxonidine;Hydrochlorothiazide;Placebo (for aliskiren);Placebo (for moxonidine and hydrochlorothiazide)
29 Home Bicycle Exercise and Aerobic Capacity Completed NCT02268292 Phase 4
30 Effect of Prolonged PDE-5 Inhibition on Insulin Signaling in Skeletal Muscle. Completed NCT02129725 Phase 4 Sildenafil citrate;Placebo Oral Capsule
31 Hemodynamic Changes of Patients Receiving Atenolol/Bisoprolol Completed NCT01939509 Phase 4 Atenolol;Bisoprolol
32 Caduet and TLC Intervention in Metabolic Syndrome Completed NCT03504735 Phase 4 Caduet Pill;Placebo
33 Effects of Hyperuricemia Reversal on Features of the Metabolic Syndrome Completed NCT01654276 Phase 4 Febuxostat
34 Effect of Aged Garlic Extract on Atherosclerosis Completed NCT01534910 Phase 4 aged garlic extract;placebo
35 Metabolic Syndrome Criteria and the Effect of Testosterone Treatment in Young Men With Hypogonadism Completed NCT01160341 Phase 4 Testosteron
36 Mesoglycan, Vascular Reactivity and Metabolic Syndrome Completed NCT02254850 Phase 4 Mesoglycan;Mesoglycan;Placebo;Placebo
37 Safety and Efficacy of Aripiprazole and Ziprasidone Among Schizophrenic Patients With Metabolic Syndrome Completed NCT01714011 Phase 4 Ziprasidone;Aripiprazole
38 Efficacy of Fluvastatin and Fenofibrate in Comparison to Simvastatin and Ezetimibe in Patients With Metabolic Syndrome Completed NCT00385658 Phase 4 Fluvastatin extended release, fenofibrate;Fixed combination simvastatin/ezetimibe
39 Study to Determine the Effects of Human Growth Hormone and Pioglitazone in Overweight, Prediabetic Adults Completed NCT00352287 Phase 4 Recombinant human growth hormone; pioglitazone
40 Korean Rosuvastatin Effectiveness Study in Nondiabetic Metabolic Syndrome Completed NCT00335699 Phase 4 Rosuvastatin
41 Ezetimibe (+) Simvastatin vs. Atorvastatin Comparative Study in DM or Metabolic Syndrome Patients (0653A-093) Completed NCT00157924 Phase 4 simvastatin (+) ezetimibe;atorvastatin
42 The Effects of Peroxisome Proliferators Activated Receptor-Gamma (PPAR-γ) Agonists on Certain Biochemical and Inflammatory Markers in Metabolic Syndrome Completed NCT00926341 Phase 4 Pioglitazone;Telmisartan
43 Reducing the Overall Risk Level in Patients Suffering From Metabolic Syndrome Completed NCT00821574 Phase 4 Fluvastatin;Valsartan;Hydrochlorothiazide
44 Simvastatin With or Without Ezetimibe and Atherothrombotic Biomarker Assessment Completed NCT00819403 Phase 4 simvastatin;ezetimibe/simvastatin
45 The PostprAndial eNdothelial Function After Combination of Ezetimibe and simvAstatin Study Completed NCT00817843 Phase 4 Simvastatin;Simvastatin/Ezetimibe
46 Effect of Crestor (Rosuvastatin) on Lipid Levels in Patients With Metabolic Syndrome Completed NCT00815659 Phase 4 rosuvastatin
47 Aliskiren Plus HCTZ Compared to Aliskiren in Metabolic Syndrome Patients With Stage 2 Systolic Hypertension Completed NCT00797316 Phase 4 Aliskiren;Hydrochlorothiazide
48 The Effect of Fluvastatin XL® Treatment in Patients With Metabolic Syndrome Completed NCT00664742 Phase 4 Fluvastatin XL®
49 The High Density Lipoprotein and Endothelial Function, Niacin and Nitric Oxide Study (The High-Ennd Study) Completed NCT00346970 Phase 4 Extended-Release Niacin;Placebo
50 The Effect of Pioglitazone and Rosiglitazone on Atherosclerotic and Inflammatory Markers in Patients With Metabolic Syndrome Completed NCT00314561 Phase 4 Pioglitazone, Rosiglitazone

Search NIH Clinical Center for Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2

Genetic Tests for Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2

Anatomical Context for Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2

MalaCards organs/tissues related to Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2:

41
Endothelial, Heart, Liver, Bone, Ovary, Prostate, Thyroid

Publications for Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2

Articles related to Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2:

# Title Authors Year
1
Abdominal obesity, metabolic syndrome in type 1 diabetic children and adolescents. ( 20455417 )
2009
2
The link between abdominal obesity, metabolic syndrome and cardiovascular disease. ( 17110092 )
2007
3
Association of hypertension with single nucleotide polymorphisms in the quantitative trait locus for abdominal obesity-metabolic syndrome on chromosome 17. ( 16511504 )
2006

Variations for Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2

Expression for Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2

Search GEO for disease gene expression data for Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2.

Pathways for Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2

GO Terms for Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2

Biological processes related to Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 response to nutrient levels GO:0031667 9.57 INS LEP
2 fatty acid beta-oxidation GO:0006635 9.56 LEP PPARD
3 placenta development GO:0001890 9.55 LEP PPARD
4 response to activity GO:0014823 9.54 LEP PPARD
5 acute-phase response GO:0006953 9.52 CRP INS
6 adipose tissue development GO:0060612 9.51 LEP PPARD
7 glucose homeostasis GO:0042593 9.5 INS LEP SLC2A4
8 positive regulation of blood vessel diameter GO:0097755 9.49 INS PPARD
9 glucose transmembrane transport GO:1904659 9.48 PPARD SLC2A4
10 positive regulation of insulin receptor signaling pathway GO:0046628 9.46 INS LEP
11 regulation of fat cell differentiation GO:0045598 9.43 LEP PPARD
12 fatty acid transport GO:0015908 9.4 PPARD SLC27A4
13 fatty acid catabolic process GO:0009062 9.37 LEP PPARD
14 negative regulation of blood vessel diameter GO:0097756 9.26 CRP INS
15 negative regulation of lipid storage GO:0010888 9.16 CRP LEP
16 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.13 INS LEP PPARD
17 glucose metabolic process GO:0006006 8.8 INS LEP PPARD

Sources for Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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