ADIPQTL1
MCID: ADP010
MIFTS: 26

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 58
Adiponectin Deficiency 58 76 38 13 74
Adipqtl1 58
Adpnd 76

Classifications:



External Ids:

OMIM 58 612556
KEGG 38 H00967
UMLS 74 C2675518

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

UniProtKB/Swiss-Prot : 76 Adiponectin deficiency: A condition that results in very low concentrations of plasma adiponectin.

MalaCards based summary : Adiponectin, Serum Level of, Quantitative Trait Locus 1, also known as adiponectin deficiency, is related to diabetes mellitus, noninsulin-dependent and colitis. 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. The drugs insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include heart, prostate and liver.

Description from OMIM: 612556

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

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

Drugs for Adiponectin, Serum Level of, Quantitative Trait Locus 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 insulin
2 Insulin, Globin Zinc

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Observational Study of Early Metabolic and Vascular Changes in Obesity Recruiting NCT00482924

Search 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:

42
Heart, Prostate, Liver, Colon, Endothelial, Brain, Skeletal Muscle

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

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

(show all 46)
# Title Authors Year
1
Adiponectin deficiency has no effect in murine autoimmune myocarditis. ( 30716658 )
2019
2
Adiponectin deficiency-induced diabetes increases TNFα and FFA via downregulation of PPARα. ( 29445073 )
2018
3
Adiponectin deficiency contributes to the development and progression of benign prostatic hyperplasia in obesity. ( 28256562 )
2017
4
Adiponectin Deficiency Impairs Maternal Metabolic Adaptation to Pregnancy in Mice. ( 28073830 )
2017
5
Adiponectin deficiency rescues high-fat diet-induced hepatic injury, apoptosis and autophagy loss despite persistent steatosis. ( 28559541 )
2017
6
Chronic adiponectin deficiency leads to Alzheimer's disease-like cognitive impairments and pathologies through AMPK inactivation and cerebral insulin resistance in aged mice. ( 27884163 )
2016
7
Permissive role of AMPK and autophagy in adiponectin deficiency-accentuated myocardial injury and inflammation in endotoxemia. ( 26906634 )
2016
8
Adiponectin Deficiency Leads to Female Subfertility and Ovarian Dysfunctions in Mice. ( 27700136 )
2016
9
Combined Adiponectin Deficiency and Resistance in Obese Patients: Can It Solve Part of the Puzzle in Nonalcoholic Steatohepatitis. ( 27275239 )
2015
10
Adiponectin Deficiency Contributes to Sensitivity in Human Skin. ( 25880703 )
2015
11
Adiponectin deficiency exacerbates age-related hearing impairment. ( 24763046 )
2014
12
Insulin resistance by adiponectin deficiency: is the action in skeletal muscle? ( 23431015 )
2013
13
Mucus and adiponectin deficiency: role in chronic inflammation-induced colon cancer. ( 23474825 )
2013
14
Adiponectin deficiency suppresses lymphoma growth in mice by modulating NK cells, CD8 T cells, and myeloid-derived suppressor cells. ( 23530146 )
2013
15
Cholesterol-induced mammary tumorigenesis is enhanced by adiponectin deficiency: role of LDL receptor upregulation. ( 24113220 )
2013
16
Adiponectin deficiency blunts hypoxia-induced mobilization and homing of circulating angiogenic cells. ( 24288546 )
2013
17
Adiponectin-deficiency exaggerates sepsis-induced microvascular dysfunction in the mouse brain. ( 21996662 )
2012
18
Adiponectin deficiency: role in chronic inflammation induced colon cancer. ( 22198319 )
2012
19
Modulation of lupus phenotype by adiponectin deficiency in autoimmune mouse models. ( 21063900 )
2011
20
Metabolic dysfunction associated with adiponectin deficiency enhances kainic acid-induced seizure severity. ( 21976521 )
2011
21
Adiponectin deficiency, diastolic dysfunction, and diastolic heart failure. ( 19850745 )
2010
22
Adiponectin deficiency promotes the production of inflammatory mediators while severely exacerbating hepatic injury in mice with polymicrobial sepsis. ( 19481767 )
2010
23
Effect of adiponectin deficiency on intestinal damage and hematopoietic responses of mice exposed to gamma radiation. ( 19583972 )
2010
24
Impact of adiponectin deficiency on pulmonary responses to acute ozone exposure in mice. ( 19915153 )
2010
25
Adiponectin deficiency enhanced the severity of cerulein-induced chronic pancreatitis in mice. ( 20155376 )
2010
26
Adiponectin deficiency exacerbates cardiac dysfunction following pressure overload through disruption of an AMPK-dependent angiogenic response. ( 20206634 )
2010
27
Effects of adiponectin deficiency on structural and metabolic remodeling in mice subjected to pressure overload. ( 20348222 )
2010
28
Adiponectin deficiency promotes tumor growth in mice by reducing macrophage infiltration. ( 20700533 )
2010
29
Adiponectin deficiency: a model of pulmonary hypertension associated with pulmonary vascular disease. ( 19561137 )
2009
30
Endothelial dysfunction in adiponectin deficiency and its mechanisms involved. ( 19027750 )
2009
31
Adiponectin deficiency does not affect development and progression of spontaneous colitis in IL-10 knockout mice. ( 19074637 )
2009
32
Adiponectin deficiency increases allergic airway inflammation and pulmonary vascular remodeling. ( 19168697 )
2009
33
Adiponectin deficiency is associated with severe polymicrobial sepsis, high inflammatory cytokine levels, and high mortality. ( 19375615 )
2009
34
Adiponectin deficiency limits tumor vascularization in the MMTV-PyV-mT mouse model of mammary cancer. ( 19447866 )
2009
35
Adiponectin deficiency modulates adhesion molecules expression and cytokine production but does not affect disease severity in the transfer model of colitis. ( 19520591 )
2009
36
Adiponectin deficiency impairs liver regeneration through attenuating STAT3 phosphorylation in mice. ( 19564844 )
2009
37
Adiponectin deficiency promotes endothelial activation and profoundly exacerbates sepsis-related mortality. ( 18628355 )
2008
38
Adiponectin deficiency enhances colorectal carcinogenesis and liver tumor formation induced by azoxymethane in mice. ( 19030198 )
2008
39
Adiponectin deficiency protects mice from chemically induced colonic inflammation. ( 17258715 )
2007
40
Adiponectin deficiency increases leukocyte-endothelium interactions via upregulation of endothelial cell adhesion molecules in vivo. ( 17549259 )
2007
41
Adiponectin deficiency suppresses ABCA1 expression and ApoA-I synthesis in the liver. ( 17936760 )
2007
42
Insulin resistance after prenatal growth restriction: is it mediated by adiponectin deficiency? ( 16649963 )
2006
43
Adiponectin deficiency exacerbates lipopolysaccharide/D-galactosamine-induced liver injury in mice. ( 16733851 )
2006
44
Adiponectin deficiency does not affect the inflammatory response to endotoxin or concanavalin a in mice. ( 16901963 )
2006
45
Impaired multimerization of human adiponectin mutants associated with diabetes. Molecular structure and multimer formation of adiponectin. ( 12878598 )
2003
46
Genomic structure and mutations in adipose-specific gene, adiponectin. ( 10918532 )
2000

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

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

76
# Symbol AA change Variation ID SNP ID
1 ADIPOQ p.Arg112Cys VAR_013274 rs121917815

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADIPOQ NM_001177800.1(ADIPOQ): c.-1095G> T single nucleotide variant risk factor rs876661321 GRCh38 Chromosome 3, 186841714: 186841714
2 ADIPOQ NM_001177800.1(ADIPOQ): c.-1095G> T single nucleotide variant risk factor rs876661321 GRCh37 Chromosome 3, 186559503: 186559503

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:

38
# 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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