AOMS1
MCID: ABD017
MIFTS: 45

Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 (AOMS1)

Categories: Genetic diseases, Metabolic diseases, Rare 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 15
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

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 diabetes mellitus, and has symptoms including angina pectoris, edema and chest pain. 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. Affiliated tissues include liver, brain and kidney, 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 top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 abdominal obesity-metabolic syndrome 1 32.1 AOMS1 HSD11B1 INS LEP SLC2A4
2 diabetes mellitus 29.2 CRP INS LEP SLC2A4
3 diabetes mellitus, noninsulin-dependent 28.4 CRP HSD11B1 INS LEP PPARD SLC2A4
4 abdominal obesity-metabolic syndrome 3 12.8
5 lipodystrophy, familial partial, type 1 10.1 INS LEP
6 complete generalized lipodystrophy 10.1 INS LEP
7 lipodystrophy, congenital generalized, type 1 10.1 INS LEP
8 lipodystrophy, familial partial, type 2 10.1 INS LEP
9 nonalcoholic steatohepatitis 10.1 INS LEP
10 fatty liver disease, nonalcoholic 1 10.1 INS LEP
11 fetal macrosomia 10.1 INS LEP
12 familial partial lipodystrophy 10.1 INS LEP
13 alstrom syndrome 10.1 INS LEP
14 acquired generalized lipodystrophy 10.1 INS LEP
15 acanthosis nigricans 10.1 INS LEP
16 pituitary-dependent cushing's disease 10.1 HSD11B1 INS
17 3-hydroxyacyl-coa dehydrogenase deficiency 10.0 INS LEP
18 malignant otitis externa 10.0 CRP INS
19 burns 10.0 CRP INS
20 diabetic neuropathy 10.0 INS LEP
21 endocrine pancreas disease 10.0 INS LEP SLC2A4
22 hyperandrogenism 10.0 HSD11B1 INS
23 acute insulin response 10.0 CRP INS
24 gestational diabetes 10.0 INS LEP SLC2A4
25 prediabetes syndrome 9.9 CRP INS LEP
26 apnea, obstructive sleep 9.9 CRP INS LEP
27 pancreas disease 9.9 CRP INS LEP
28 sleep disorder 9.9 CRP INS LEP
29 anovulation 9.9 CRP INS LEP
30 inherited metabolic disorder 9.9 CRP INS LEP
31 sleep apnea 9.9 CRP INS LEP
32 uremia 9.8 CRP INS LEP
33 arteries, anomalies of 9.8 CRP INS LEP
34 lipid metabolism disorder 9.8 CRP INS LEP
35 morbid obesity 9.8 CRP INS LEP
36 nonalcoholic fatty liver disease 9.8 CRP INS LEP
37 maturity-onset diabetes of the young, type 1 9.8 CRP INS LEP
38 chronic kidney failure 9.8 CRP INS LEP
39 hypertension, essential 9.8 CRP INS LEP
40 nutritional deficiency disease 9.7 CRP LEP
41 glucose metabolism disease 9.7 CRP INS LEP SLC2A4
42 acquired metabolic disease 9.7 CRP INS LEP SLC2A4
43 glucose intolerance 9.7 CRP INS LEP SLC2A4
44 coronary heart disease 1 9.7
45 myocardial infarction 9.7
46 acute myocardial infarction 9.7
47 heart disease 9.7
48 conn's syndrome 9.7
49 central retinal artery occlusion 9.7
50 vascular disease 9.7

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
Cardiovascular Vascular:
hypertension

Laboratory Abnormalities:
elevated fasting glucose levels

Growth Weight:
abdominal obesity


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, edema, chest pain

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 9.88 DBI HSD11B1 INS LEP PPARD SLC2A4
2 growth/size/body region MP:0005378 9.87 DBI HSD11B1 INS LEP PPARD SLC27A4
3 homeostasis/metabolism MP:0005376 9.86 CRP DBI HSD11B1 INS LEP PPARD
4 digestive/alimentary MP:0005381 9.77 INS LEP PPARD SLC27A4 SLC2A4
5 integument MP:0010771 9.63 DBI HSD11B1 INS LEP PPARD SLC27A4
6 liver/biliary system MP:0005370 9.43 DBI HSD11B1 INS LEP PPARD SLC2A4
7 muscle MP:0005369 9.02 HSD11B1 INS LEP PPARD SLC2A4

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

Search Clinical Trials , 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
Liver, Brain, Kidney, Heart, Pituitary, Pancreas

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 lipid metabolic process GO:0006629 9.8 HSD11B1 LEP PPARD SLC27A4
2 fatty acid beta-oxidation GO:0006635 9.57 LEP PPARD
3 response to activity GO:0014823 9.56 LEP PPARD
4 placenta development GO:0001890 9.55 LEP PPARD
5 acute-phase response GO:0006953 9.54 CRP INS
6 adipose tissue development GO:0060612 9.52 LEP PPARD
7 positive regulation of blood vessel diameter GO:0097755 9.51 INS PPARD
8 glucose homeostasis GO:0042593 9.5 INS LEP SLC2A4
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 catabolic process GO:0009062 9.4 LEP PPARD
13 fatty acid transport GO:0015908 9.37 PPARD SLC27A4
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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