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, endothelial and heart.

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:

(showing 36, show less)
# 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 breast cancer 9.7
7 pulmonary hypertension, primary, 1 9.7
8 pancreatic agenesis 1 9.7
9 prostatic hyperplasia, benign 9.7
10 pulmonary disease, chronic obstructive 9.7
11 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7
12 inflammatory bowel disease 9.7
13 non-alcoholic fatty liver disease 9.7
14 glucose intolerance 9.7
15 prostatic hypertrophy 9.7
16 heart disease 9.7
17 gestational diabetes 9.7
18 visual epilepsy 9.7
19 vascular disease 9.7
20 pancreas disease 9.7
21 prostatic adenoma 9.7
22 pancreatitis 9.7
23 congestive heart failure 9.7
24 myocarditis 9.7
25 peritonitis 9.7
26 ulcerative colitis 9.7
27 lupus erythematosus 9.7
28 fatty liver disease 9.7
29 diastolic heart failure 9.7
30 hypoglycemia 9.7
31 autoimmune myocarditis 9.7
32 cytokine deficiency 9.7
33 splenomegaly 9.7
34 hypoxia 9.7
35 seizure disorder 9.7
36 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, Endothelial, Heart, Colon, Bone, Adipocyte, Lung

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

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

(showing 130, show less)
# Title Authors PMID Year
1
Genomic structure and mutations in adipose-specific gene, adiponectin. 6 56
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
Lower Levels of Adiponectin and Its Receptor Adipor1 in the Uveal Melanomas With Monosomy-3. 61
32396633 2020
14
Drivers for the comorbidity of type 2 diabetes mellitus and epilepsy: A scoping review. 61
32217418 2020
15
Adiponectin deficiency induces mitochondrial dysfunction and promotes endothelial activation and pulmonary vascular injury. 61
31585050 2019
16
Adiponectin deficiency has no effect in murine autoimmune myocarditis. 61
30716658 2019
17
Focus on the Correlations between Alzheimer's Disease and Type 2 Diabetes. 61
30854980 2019
18
Adiponectin Deficiency Triggers Bone Loss by Up-Regulation of Osteoclastogenesis and Down-Regulation of Osteoblastogenesis. 61
31824428 2019
19
Reciprocal Inhibition of Adiponectin and Innate Lung Immune Responses to Chitin and Aspergillus fumigatus. 61
31134096 2019
20
Tributyltin reduces the levels of serum adiponectin and activity of AKT and induces metabolic syndrome in male mice. 61
29675927 2018
21
Adiponectin deficiency-induced diabetes increases TNFα and FFA via downregulation of PPARα. 61
29445073 2018
22
Association of Adipokines with Development and Progression of Nonalcoholic Fatty Liver Disease. 61
29589386 2018
23
Adiponectin release and insulin receptor targeting share trans-Golgi-dependent endosomal trafficking routes. 61
29203237 2018
24
Adiponectin deficiency rescues high-fat diet-induced hepatic injury, apoptosis and autophagy loss despite persistent steatosis. 61
28559541 2017
25
Genetically modified mesenchymal stem/stromal cells transfected with adiponectin gene can stably secrete adiponectin. 61
28606849 2017
26
Adipokines and Non-Alcoholic Fatty Liver Disease: Multiple Interactions. 61
28758929 2017
27
Adiponectin regulates contextual fear extinction and intrinsic excitability of dentate gyrus granule neurons through AdipoR2 receptors. 61
27137743 2017
28
Adiponectin Deficiency Impairs Maternal Metabolic Adaptation to Pregnancy in Mice. 61
28073830 2017
29
Adiponectin deficiency contributes to the development and progression of benign prostatic hyperplasia in obesity. 61
28256562 2017
30
Early High-Fat Feeding Induces Alteration of Trace Element Content in Tissues of Juvenile Male Wistar Rats. 61
27311579 2017
31
Adiponectin Deficiency Leads to Female Subfertility and Ovarian Dysfunctions in Mice. 61
27700136 2016
32
Knockout maternal adiponectin increases fetal growth in mice: potential role for trophoblast IGFBP-1. 61
27495989 2016
33
Adiponectin induces CXCL1 secretion from cancer cells and promotes tumor angiogenesis by inducing stromal fibroblast senescence. 61
27092462 2016
34
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
35
Adiponectin Exerts Neurotrophic Effects on Dendritic Arborization, Spinogenesis, and Neurogenesis of the Dentate Gyrus of Male Mice. 61
27187175 2016
36
Adiponectin Enhances Antibacterial Activity of Hematopoietic Cells by Suppressing Bone Marrow Inflammation. 61
27317261 2016
37
Permissive role of AMPK and autophagy in adiponectin deficiency-accentuated myocardial injury and inflammation in endotoxemia. 61
26906634 2016
38
N-Acetylcysteine Restores Sevoflurane Postconditioning Cardioprotection against Myocardial Ischemia-Reperfusion Injury in Diabetic Rats. 61
26783539 2016
39
Adiponectin treatment attenuates inflammatory response during early sepsis in obese mice. 61
27785087 2016
40
Deficiency in adiponectin exaggerates cigarette smoking exposure-induced cardiac contractile dysfunction: Role of autophagy. 61
26276084 2015
41
Adiponectin Deficiency Contributes to Sensitivity in Human Skin. 61
25880703 2015
42
Adiponectin regulates psoriasiform skin inflammation by suppressing IL-17 production from γδ-T cells. 61
26173479 2015
43
Adiponectin deletion impairs insulin signaling in insulin-sensitive but not insulin-resistant 3T3-L1 adipocytes. 61
25956568 2015
44
Combined Adiponectin Deficiency and Resistance in Obese Patients: Can It Solve Part of the Puzzle in Nonalcoholic Steatohepatitis. 61
27275239 2015
45
Maternal adiponectin controls milk composition to prevent neonatal inflammation. 61
25590242 2015
46
Myocardial mitochondrial and contractile function are preserved in mice lacking adiponectin. 61
25785965 2015
47
Temporal and Molecular Analyses of Cardiac Extracellular Matrix Remodeling following Pressure Overload in Adiponectin Deficient Mice. 61
25910275 2015
48
Effects of adiponectin on calcium-handling proteins in heart failure with preserved ejection fraction. 61
25149095 2014
49
Adiponectin attenuates abdominal aortic aneurysm formation in hyperlipidemic mice. 61
24911638 2014
50
Adiponectin promotes pancreatic cancer progression by inhibiting apoptosis via the activation of AMPK/Sirt1/PGC-1α signaling. 61
25051362 2014
51
Divergent roles for adiponectin receptor 1 (AdipoR1) and AdipoR2 in mediating revascularization and metabolic dysfunction in vivo. 61
24742672 2014
52
Adiponectin as a tissue regenerating hormone: more than a metabolic function. 61
24322911 2014
53
Adiponectin deficiency exacerbates age-related hearing impairment. 61
24763046 2014
54
Underactivation of the adiponectin-adiponectin receptor 1 axis in clear cell renal cell carcinoma: implications for progression. 61
24096711 2014
55
Adiponectin inhibits leptin-induced oncogenic signalling in oesophageal cancer cells by activation of PTP1B. 61
23994026 2014
56
Elevated adiponectin expression promotes adipose tissue vascularity under conditions of diet-induced obesity. 61
23993424 2013
57
Cholesterol-induced mammary tumorigenesis is enhanced by adiponectin deficiency: role of LDL receptor upregulation. 61
24113220 2013
58
Adiponectin promotes monocyte-to-fibroblast transition in renal fibrosis. 61
23833260 2013
59
Mucus and adiponectin deficiency: role in chronic inflammation-induced colon cancer. 61
23474825 2013
60
Fat, fire and muscle--the role of adiponectin in pulmonary vascular inflammation and remodeling. 61
22750271 2013
61
Adiponectin increases macrophages cholesterol efflux and suppresses foam cell formation in patients with type 2 diabetes mellitus. 61
23466101 2013
62
[Adiponectin: an anti-carcinogenic adipokine?]. 61
23570813 2013
63
Adiponectin deficiency suppresses lymphoma growth in mice by modulating NK cells, CD8 T cells, and myeloid-derived suppressor cells. 61
23530146 2013
64
Salutary effects of adiponectin on colon cancer: in vivo and in vitro studies in mice. 61
22735569 2013
65
Lipidomic analysis of the liver identifies changes of major and minor lipid species in adiponectin deficient mice. 61
22465357 2013
66
Insulin resistance by adiponectin deficiency: is the action in skeletal muscle? 61
23431015 2013
67
Adiponectin deficiency blunts hypoxia-induced mobilization and homing of circulating angiogenic cells. 61
24288546 2013
68
Adiponectin receptors in energy homeostasis and obesity pathogenesis. 61
23317789 2013
69
Association of low plasma adiponectin with early diastolic dysfunction. 61
22809257 2012
70
Adiponectin diminishes organ-specific microvascular endothelial cell activation associated with sepsis. 61
22258235 2012
71
Adiponectin deficiency: role in chronic inflammation induced colon cancer. 61
22198319 2012
72
Adiponectin-deficiency exaggerates sepsis-induced microvascular dysfunction in the mouse brain. 61
21996662 2012
73
Adiponectin and cardiovascular health: an update. 61
21457225 2012
74
Relationship of oxidative stress with obesity and its role in obesity induced metabolic syndrome. 61
22783566 2012
75
Adiponectin: regulation of its production and its role in human diseases. 61
22450341 2012
76
Adiponectin and reproduction. 61
23017717 2012
77
Metabolic dysfunction associated with adiponectin deficiency enhances kainic acid-induced seizure severity. 61
21976521 2011
78
Modulation of lupus phenotype by adiponectin deficiency in autoimmune mouse models. 61
21063900 2011
79
Adiponectin inhibits osteoclastogenesis and bone resorption via APPL1-mediated suppression of Akt1. 61
21300805 2011
80
Role of adiponectin in the development of high fat diet-induced metabolic abnormalities in mice. 61
21165812 2011
81
Is there an obesity-metabolic syndrome related glomerulopathy? 61
21088574 2011
82
Serum adiponectin is positively associated with lung function in young adults, independent of obesity: the CARDIA study. 61
21143922 2010
83
Impact of adiponectin deficiency on pulmonary responses to acute ozone exposure in mice. 61
19915153 2010
84
Adiponectin deficiency exacerbates cardiac dysfunction following pressure overload through disruption of an AMPK-dependent angiogenic response. 61
20206634 2010
85
Adiponectin deficiency promotes tumor growth in mice by reducing macrophage infiltration. 61
20700533 2010
86
Effect of adiponectin deficiency on intestinal damage and hematopoietic responses of mice exposed to gamma radiation. 61
19583972 2010
87
Adiponectin deficiency enhanced the severity of cerulein-induced chronic pancreatitis in mice. 61
20155376 2010
88
Adiponectin deficiency promotes the production of inflammatory mediators while severely exacerbating hepatic injury in mice with polymicrobial sepsis. 61
19481767 2010
89
Effects of adiponectin deficiency on structural and metabolic remodeling in mice subjected to pressure overload. 61
20348222 2010
90
Effect of short hairpin RNA-mediated adiponectin/Acrp30 down-regulation on insulin signaling and glucose uptake in the 3T3-L1 adipocytes. 61
19636223 2010
91
Adiponectin during pregnancy: correlation with fat metabolism, but not with carbohydrate metabolism. 61
19381664 2010
92
Adiponectin deficiency, diastolic dysfunction, and diastolic heart failure. 61
19850745 2010
93
Adiponectin deficiency increases allergic airway inflammation and pulmonary vascular remodeling. 61
19168697 2009
94
Adiponectin deficiency impairs liver regeneration through attenuating STAT3 phosphorylation in mice. 61
19564844 2009
95
Adiponectin deficiency: a model of pulmonary hypertension associated with pulmonary vascular disease. 61
19561137 2009
96
Adiponectin deficiency modulates adhesion molecules expression and cytokine production but does not affect disease severity in the transfer model of colitis. 61
19520591 2009
97
Adiponectin deficiency limits tumor vascularization in the MMTV-PyV-mT mouse model of mammary cancer. 61
19447866 2009
98
Adiponectin deficiency is associated with severe polymicrobial sepsis, high inflammatory cytokine levels, and high mortality. 61
19375615 2009
99
Endothelial dysfunction in adiponectin deficiency and its mechanisms involved. 61
19027750 2009
100
Adiponectin deficiency does not affect development and progression of spontaneous colitis in IL-10 knockout mice. 61
19074637 2009
101
Adiponectin haploinsufficiency promotes mammary tumor development in MMTV-PyVT mice by modulation of phosphatase and tensin homolog activities. 61
19319191 2009
102
Adiponectin suppresses colorectal carcinogenesis under the high-fat diet condition. 61
18676419 2008
103
Adiponectin deficiency enhances colorectal carcinogenesis and liver tumor formation induced by azoxymethane in mice. 61
19030198 2008
104
Adiponectin deficiency promotes endothelial activation and profoundly exacerbates sepsis-related mortality. 61
18628355 2008
105
Lipodystrophic syndrome in children and adolescents infected with the human immunodeficiency virus. 61
19030739 2008
106
Role and regulation of adipokines during zymosan-induced peritoneal inflammation in mice. 61
18450950 2008
107
Alveolar macrophage activation and an emphysema-like phenotype in adiponectin-deficient mice. 61
18326826 2008
108
Linking adiponectin to proteinuria. 61
18431507 2008
109
Globular adiponectin, acting via adiponectin receptor-1, inhibits leptin-stimulated oesophageal adenocarcinoma cell proliferation. 61
18313838 2008
110
Vascular effects of adiponectin: molecular mechanisms and potential therapeutic intervention. 61
18230060 2008
111
Changes in adiponectin, its receptors and AMPK activity in tissues of diet-induced diabetic mice. 61
18222103 2008
112
Adiponectin deficiency suppresses ABCA1 expression and ApoA-I synthesis in the liver. 61
17936760 2007
113
Adiponectin deficiency increases leukocyte-endothelium interactions via upregulation of endothelial cell adhesion molecules in vivo. 61
17549259 2007
114
Adiponectin deficiency protects mice from chemically induced colonic inflammation. 61
17258715 2007
115
Adiponectin modulates inflammatory reactions via calreticulin receptor-dependent clearance of early apoptotic bodies. 61
17256056 2007
116
Adiponectin deficiency does not affect the inflammatory response to endotoxin or concanavalin a in mice. 61
16901963 2006
117
Effect of adiponectin on murine colitis induced by dextran sulfate sodium. 61
16952554 2006
118
Effects of DGAT1 deficiency on energy and glucose metabolism are independent of adiponectin. 61
16595853 2006
119
Adiponectin deficiency exacerbates lipopolysaccharide/D-galactosamine-induced liver injury in mice. 61
16733851 2006
120
Insulin resistance after prenatal growth restriction: is it mediated by adiponectin deficiency? 61
16649963 2006
121
Effects of acquired obesity on endothelial function in monozygotic twins. 61
16855192 2006
122
Adiponectin acts as an endogenous antithrombotic factor. 61
16269667 2006
123
Leptin and Adiponectin in the HIV Associated Metabolic Syndrome: Physiologic and Therapeutic Implications. 61
17183414 2006
124
[Adiponectin, a new hormone: its role in the pathogenesis of diabetes mellitus]. 61
17111933 2006
125
Exacerbation of heart failure in adiponectin-deficient mice due to impaired regulation of AMPK and glucose metabolism. 61
15907819 2005
126
The fatty liver and insulin resistance. 61
15892648 2005
127
Fat in the liver and insulin resistance. 61
16179270 2005
128
[Adiponectin as an adipose tissue hormone and its role in the metabolic syndrome and cardiovascular disease]. 61
16232373 2005
129
Adipocyte-derived hormone levels in HIV lipodystrophy. 61
12713059 2003
130
Transplantation of adipose tissue lacking leptin is unable to reverse the metabolic abnormalities associated with lipoatrophy. 61
12196465 2002

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

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

6 (showing 1, show less) ‎‎
# 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 (showing 1, show less)
# 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 (showing 3, show less)
# 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
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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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