ADIPQTL1
MCID: ADP010
MIFTS: 24

Adiponectin, Serum Level of, Quantitative Trait Locus 1 (ADIPQTL1)

Categories: Genetic diseases

Aliases & Classifications for Adiponectin, Serum Level of, Quantitative Trait Locus 1

MalaCards integrated aliases for Adiponectin, Serum Level of, Quantitative Trait Locus 1:

Name: Adiponectin, Serum Level of, Quantitative Trait Locus 1 56
Adiponectin Deficiency 56 73 36 13 71
Adipqtl1 56
Adpnd 73

Classifications:



External Ids:

OMIM 56 612556
KEGG 36 H00967
UMLS 71 C2675518

Summaries for Adiponectin, Serum Level of, Quantitative Trait Locus 1

KEGG : 36 Adiponectin is a major adipocyte-derived protein with insulin-sensitizing, anti-inflammatory and anti-atherogenic properties. Adiponectin deficiency related to several obesity related malignancies including colorectal cancer.

MalaCards based summary : Adiponectin, Serum Level of, Quantitative Trait Locus 1, also known as adiponectin deficiency, is related to colitis and colorectal cancer. An important gene associated with Adiponectin, Serum Level of, Quantitative Trait Locus 1 is ADIPOQ (Adiponectin, C1Q And Collagen Domain Containing), and among its related pathways/superpathways are PPAR signaling pathway and Adipocytokine signaling pathway. Affiliated tissues include liver, heart and prostate.

UniProtKB/Swiss-Prot : 73 Adiponectin deficiency: A condition that results in very low concentrations of plasma adiponectin.

More information from OMIM: 612556

Related Diseases for Adiponectin, Serum Level of, Quantitative Trait Locus 1

Diseases in the Adiponectin, Serum Level of, Quantitative Trait Locus 1 family:

Adiponectin, Serum Level of, Quantitative Trait Locus 2 Adiponectin, Serum Level of, Quantitative Trait Locus 3
Adiponectin, Serum Level of, Quantitative Trait Locus 4 Adiponectin, Serum Level of, Quantitative Trait Locus 5

Diseases related to Adiponectin, Serum Level of, Quantitative Trait Locus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 colitis 10.0
2 colorectal cancer 9.9
3 fatty liver disease, nonalcoholic 1 9.9
4 pulmonary hypertension 9.9
5 non-alcoholic steatohepatitis 9.9
6 hypoxia 9.9
7 breast cancer 9.7
8 pulmonary hypertension, primary, 1 9.7
9 pancreatic agenesis 1 9.7
10 prostatic hyperplasia, benign 9.7
11 pulmonary disease, chronic obstructive 9.7
12 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7
13 inflammatory bowel disease 9.7
14 non-alcoholic fatty liver disease 9.7
15 glucose intolerance 9.7
16 prostatic hypertrophy 9.7
17 heart disease 9.7
18 gestational diabetes 9.7
19 visual epilepsy 9.7
20 vascular disease 9.7
21 pancreas disease 9.7
22 prostatic adenoma 9.7
23 pancreatitis 9.7
24 congestive heart failure 9.7
25 myocarditis 9.7
26 peritonitis 9.7
27 lung disease 9.7
28 ulcerative colitis 9.7
29 lupus erythematosus 9.7
30 fatty liver disease 9.7
31 diastolic heart failure 9.7
32 hypoglycemia 9.7
33 autoimmune myocarditis 9.7
34 cytokine deficiency 9.7
35 splenomegaly 9.7
36 seizure disorder 9.7
37 apnea of prematurity 9.7

Graphical network of the top 20 diseases related to Adiponectin, Serum Level of, Quantitative Trait Locus 1:



Diseases related to Adiponectin, Serum Level of, Quantitative Trait Locus 1

Symptoms & Phenotypes for Adiponectin, Serum Level of, Quantitative Trait Locus 1

Clinical features from OMIM:

612556

Drugs & Therapeutics for Adiponectin, Serum Level of, Quantitative Trait Locus 1

Search Clinical Trials , NIH Clinical Center for Adiponectin, Serum Level of, Quantitative Trait Locus 1

Genetic Tests for Adiponectin, Serum Level of, Quantitative Trait Locus 1

Anatomical Context for Adiponectin, Serum Level of, Quantitative Trait Locus 1

MalaCards organs/tissues related to Adiponectin, Serum Level of, Quantitative Trait Locus 1:

40
Liver, Heart, Prostate, Lung, T Cells, Endothelial, Colon

Publications for Adiponectin, Serum Level of, Quantitative Trait Locus 1

Articles related to Adiponectin, Serum Level of, Quantitative Trait Locus 1:

(show top 50) (show all 128)
# Title Authors PMID Year
1
Genomic structure and mutations in adipose-specific gene, adiponectin. 56 6
10918532 2000
2
Circulating high molecular weight adiponectin isoform is heritable and shares a common genetic background with insulin resistance in nondiabetic White Caucasians from Italy: evidence from a family-based study. 56
19761474 2010
3
Common variants in the adiponectin gene (ADIPOQ) associated with plasma adiponectin levels, type 2 diabetes, and diabetes-related quantitative traits: the Framingham Offspring Study. 56
18776141 2008
4
A novel association of a polymorphism in the first intron of adiponectin gene with type 2 diabetes, obesity and hypoadiponectinemia in Asian Indians. 56
18465144 2008
5
Heritability of plasma adiponectin levels and body mass index in twins. 56
17535986 2007
6
The adiponectin gene is associated with adiponectin levels but not with characteristics of the insulin resistance syndrome in healthy Caucasians. 56
16418740 2006
7
Common polymorphisms (single-nucleotide polymorphisms SNP+45 and SNP+276) of the adiponectin gene regulate serum adiponectin concentrations and blood pressure in young Finnish men. 56
16256387 2006
8
Association of the human adiponectin gene and insulin resistance. 56
14673476 2004
9
Impaired multimerization of human adiponectin mutants associated with diabetes. Molecular structure and multimer formation of adiponectin. 6
12878598 2003
10
Single-nucleotide polymorphism haplotypes in the both proximal promoter and exon 3 of the APM1 gene modulate adipocyte-secreted adiponectin hormone levels and contribute to the genetic risk for type 2 diabetes in French Caucasians. 56
12354786 2002
11
A haplotype at the adiponectin locus is associated with obesity and other features of the insulin resistance syndrome. 56
12086965 2002
12
An investigation of coronary heart disease in families. The Framingham offspring study. 56
474565 1979
13
Adiponectin deficiency induces mitochondrial dysfunction and promotes endothelial activation and pulmonary vascular injury. 61
31585050 2019
14
Adiponectin deficiency has no effect in murine autoimmune myocarditis. 61
30716658 2019
15
Focus on the Correlations between Alzheimer's Disease and Type 2 Diabetes. 61
30854980 2019
16
Adiponectin Deficiency Triggers Bone Loss by Up-Regulation of Osteoclastogenesis and Down-Regulation of Osteoblastogenesis. 61
31824428 2019
17
Reciprocal Inhibition of Adiponectin and Innate Lung Immune Responses to Chitin and Aspergillus fumigatus. 61
31134096 2019
18
Tributyltin reduces the levels of serum adiponectin and activity of AKT and induces metabolic syndrome in male mice. 61
29675927 2018
19
Adiponectin deficiency-induced diabetes increases TNFα and FFA via downregulation of PPARα. 61
29445073 2018
20
Association of Adipokines with Development and Progression of Nonalcoholic Fatty Liver Disease. 61
29589386 2018
21
Adiponectin release and insulin receptor targeting share trans-Golgi-dependent endosomal trafficking routes. 61
29203237 2018
22
Adiponectin deficiency rescues high-fat diet-induced hepatic injury, apoptosis and autophagy loss despite persistent steatosis. 61
28559541 2017
23
Genetically modified mesenchymal stem/stromal cells transfected with adiponectin gene can stably secrete adiponectin. 61
28606849 2017
24
Adipokines and Non-Alcoholic Fatty Liver Disease: Multiple Interactions. 61
28758929 2017
25
Adiponectin regulates contextual fear extinction and intrinsic excitability of dentate gyrus granule neurons through AdipoR2 receptors. 61
27137743 2017
26
Adiponectin Deficiency Impairs Maternal Metabolic Adaptation to Pregnancy in Mice. 61
28073830 2017
27
Adiponectin deficiency contributes to the development and progression of benign prostatic hyperplasia in obesity. 61
28256562 2017
28
Early High-Fat Feeding Induces Alteration of Trace Element Content in Tissues of Juvenile Male Wistar Rats. 61
27311579 2017
29
Adiponectin Deficiency Leads to Female Subfertility and Ovarian Dysfunctions in Mice. 61
27700136 2016
30
Chronic adiponectin deficiency leads to Alzheimer's disease-like cognitive impairments and pathologies through AMPK inactivation and cerebral insulin resistance in aged mice. 61
27884163 2016
31
Knockout maternal adiponectin increases fetal growth in mice: potential role for trophoblast IGFBP-1. 61
27495989 2016
32
Adiponectin induces CXCL1 secretion from cancer cells and promotes tumor angiogenesis by inducing stromal fibroblast senescence. 61
27092462 2016
33
Adiponectin Exerts Neurotrophic Effects on Dendritic Arborization, Spinogenesis, and Neurogenesis of the Dentate Gyrus of Male Mice. 61
27187175 2016
34
Adiponectin Enhances Antibacterial Activity of Hematopoietic Cells by Suppressing Bone Marrow Inflammation. 61
27317261 2016
35
Permissive role of AMPK and autophagy in adiponectin deficiency-accentuated myocardial injury and inflammation in endotoxemia. 61
26906634 2016
36
Adiponectin treatment attenuates inflammatory response during early sepsis in obese mice. 61
27785087 2016
37
N-Acetylcysteine Restores Sevoflurane Postconditioning Cardioprotection against Myocardial Ischemia-Reperfusion Injury in Diabetic Rats. 61
26783539 2016
38
Deficiency in adiponectin exaggerates cigarette smoking exposure-induced cardiac contractile dysfunction: Role of autophagy. 61
26276084 2015
39
Adiponectin Deficiency Contributes to Sensitivity in Human Skin. 61
25880703 2015
40
Adiponectin regulates psoriasiform skin inflammation by suppressing IL-17 production from γδ-T cells. 61
26173479 2015
41
Adiponectin deletion impairs insulin signaling in insulin-sensitive but not insulin-resistant 3T3-L1 adipocytes. 61
25956568 2015
42
Combined Adiponectin Deficiency and Resistance in Obese Patients: Can It Solve Part of the Puzzle in Nonalcoholic Steatohepatitis. 61
27275239 2015
43
Maternal adiponectin controls milk composition to prevent neonatal inflammation. 61
25590242 2015
44
Myocardial mitochondrial and contractile function are preserved in mice lacking adiponectin. 61
25785965 2015
45
Temporal and Molecular Analyses of Cardiac Extracellular Matrix Remodeling following Pressure Overload in Adiponectin Deficient Mice. 61
25910275 2015
46
Effects of adiponectin on calcium-handling proteins in heart failure with preserved ejection fraction. 61
25149095 2014
47
Adiponectin attenuates abdominal aortic aneurysm formation in hyperlipidemic mice. 61
24911638 2014
48
Adiponectin promotes pancreatic cancer progression by inhibiting apoptosis via the activation of AMPK/Sirt1/PGC-1α signaling. 61
25051362 2014
49
Divergent roles for adiponectin receptor 1 (AdipoR1) and AdipoR2 in mediating revascularization and metabolic dysfunction in vivo. 61
24742672 2014
50
Adiponectin as a tissue regenerating hormone: more than a metabolic function. 61
24322911 2014

Variations for Adiponectin, Serum Level of, Quantitative Trait Locus 1

ClinVar genetic disease variations for Adiponectin, Serum Level of, Quantitative Trait Locus 1:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADIPOQ NM_001177800.1(ADIPOQ):c.-1095G>TSNV risk factor 235098 rs876661321 3:186559503-186559503 3:186841714-186841714

UniProtKB/Swiss-Prot genetic disease variations for Adiponectin, Serum Level of, Quantitative Trait Locus 1:

73
# Symbol AA change Variation ID SNP ID
1 ADIPOQ p.Arg112Cys VAR_013274 rs121917815

Expression for Adiponectin, Serum Level of, Quantitative Trait Locus 1

Search GEO for disease gene expression data for Adiponectin, Serum Level of, Quantitative Trait Locus 1.

Pathways for Adiponectin, Serum Level of, Quantitative Trait Locus 1

Pathways related to Adiponectin, Serum Level of, Quantitative Trait Locus 1 according to KEGG:

36
# Name Kegg Source Accession
1 PPAR signaling pathway hsa03320
2 Adipocytokine signaling pathway hsa04920
3 Type II diabetes mellitus hsa04930

GO Terms for Adiponectin, Serum Level of, Quantitative Trait Locus 1

Sources for Adiponectin, Serum Level of, Quantitative Trait Locus 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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