MCID: ADP002
MIFTS: 38

Adiponectin Deficiency malady

Genetic diseases (common) category

Summaries for Adiponectin Deficiency

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48OMIM, 34MalaCards
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MalaCards: Adiponectin Deficiency is related to insulin resistance and vascular disease. An important gene associated with Adiponectin Deficiency is ADIPOQ (adiponectin, C1Q and collagen domain containing), and among its related pathways are G-Beta Gamma Signaling and Oxytocin signaling pathway. The compounds adma and metoprolol have been mentioned in the context of this disorder. Affiliated tissues include liver, colon and endothelial, and related mouse phenotypes are other and adipose tissue.

Description from OMIM:48 612556

Aliases & Classifications for Adiponectin Deficiency

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48OMIM, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

adiponectin deficiency 48 63


Related Diseases for Adiponectin Deficiency

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Sources:
18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Adiponectin Deficiency:



Diseases related to adiponectin deficiency

Symptoms for Adiponectin Deficiency

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Sources:
48OMIM
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Clinical features from OMIM:

612556

Drugs & Therapeutics for Adiponectin Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Adiponectin Deficiency

Drug clinical trials:

Search ClinicalTrials for Adiponectin Deficiency

Search NIH Clinical Center for Adiponectin Deficiency

Search CenterWatch for Adiponectin Deficiency

Genetic Tests for Adiponectin Deficiency

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Anatomical Context for Adiponectin Deficiency

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34MalaCards
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MalaCards organs/tissues related to Adiponectin Deficiency:

34
Liver, Colon, Endothelial, Brain, Heart, Skeletal muscle, Nk cells, T cells

Animal Models for Adiponectin Deficiency or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Adiponectin Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.0NOS3, PTGS2
2MP:00053758.7NOS3, ADIPOQ, PTGS2
3MP:00053708.7PTGS2, ADIPOQ, NOS3
4MP:00053678.6NOS3, ADIPOQ, PTGS2
5MP:00053888.6PTGS2, ADIPOQ, NOS3
6MP:00053698.5NOS3, ADIPOQ, PTGS2
7MP:00053798.4PTGS2, ADIPOQ, NOS3
8MP:00053908.2NOS3, ADIPOQ, PTGS2

Publications for Adiponectin Deficiency

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53PubMed
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Articles related to Adiponectin Deficiency:

(show all 33)
idTitleAuthorsYear
1
Insulin resistance by adiponectin deficiency: is the action in skeletal muscle? (23431015)
2013
2
Adiponectin deficiency blunts hypoxia-induced mobilization and homing of circulating angiogenic cells. (24288546)
2013
3
Mucus and adiponectin deficiency: role in chronic inflammation-induced colon cancer. (23474825)
2013
4
Cholesterol-induced mammary tumorigenesis is enhanced by adiponectin deficiency: role of LDL receptor upregulation. (24113220)
2013
5
Adiponectin deficiency suppresses lymphoma growth in mice by modulating NK cells, CD8 T cells, and myeloid-derived suppressor cells. (23530146)
2013
6
Adiponectin-deficiency exaggerates sepsis-induced microvascular dysfunction in the mouse brain. (21996662)
2012
7
Adiponectin deficiency: role in chronic inflammation induced colon cancer. (22198319)
2012
8
Metabolic dysfunction associated with adiponectin deficiency enhances kainic acid-induced seizure severity. (21976521)
2011
9
Modulation of lupus phenotype by adiponectin deficiency in autoimmune mouse models. (21063900)
2011
10
Adiponectin deficiency, diastolic dysfunction, and diastolic heart failure. (19850745)
2010
11
Impact of adiponectin deficiency on pulmonary responses to acute ozone exposure in mice. (19915153)
2010
12
Effect of adiponectin deficiency on intestinal damage and hematopoietic responses of mice exposed to gamma radiation. (19583972)
2010
13
Effects of adiponectin deficiency on structural and metabolic remodeling in mice subjected to pressure overload. (20348222)
2010
14
Adiponectin deficiency promotes tumor growth in mice by reducing macrophage infiltration. (20700533)
2010
15
Adiponectin deficiency exacerbates cardiac dysfunction following pressure overload through disruption of an AMPK-dependent angiogenic response. (20206634)
2010
16
Adiponectin deficiency promotes the production of inflammatory mediators while severely exacerbating hepatic injury in mice with polymicrobial sepsis. (19481767)
2010
17
Adiponectin deficiency enhanced the severity of cerulein-induced chronic pancreatitis in mice. (20155376)
2010
18
Adiponectin deficiency is associated with severe polymicrobial sepsis, high inflammatory cytokine levels, and high mortality. (19375615)
2009
19
Adiponectin deficiency: a model of pulmonary hypertension associated with pulmonary vascular disease. (19561137)
2009
20
Adiponectin deficiency impairs liver regeneration through attenuating STAT3 phosphorylation in mice. (19564844)
2009
21
Adiponectin deficiency increases allergic airway inflammation and pulmonary vascular remodeling. (19168697)
2009
22
Adiponectin deficiency modulates adhesion molecules expression and cytokine production but does not affect disease severity in the transfer model of colitis. (19520591)
2009
23
Adiponectin deficiency does not affect development and progression of spontaneous colitis in IL-10 knockout mice. (19074637)
2009
24
Adiponectin deficiency limits tumor vascularization in the MMTV-PyV-mT mouse model of mammary cancer. (19447866)
2009
25
Endothelial dysfunction in adiponectin deficiency and its mechanisms involved. (19027750)
2009
26
Adiponectin deficiency promotes endothelial activation and profoundly exacerbates sepsis-related mortality. (18628355)
2008
27
Adiponectin deficiency enhances colorectal carcinogenesis and liver tumor formation induced by azoxymethane in mice. (19030198)
2008
28
Adiponectin deficiency protects mice from chemically induced colonic inflammation. (17258715)
2007
29
Adiponectin deficiency suppresses ABCA1 expression and ApoA-I synthesis in the liver. (17936760)
2007
30
Adiponectin deficiency increases leukocyte-endothelium interactions via upregulation of endothelial cell adhesion molecules in vivo. (17549259)
2007
31
Adiponectin deficiency does not affect the inflammatory response to endotoxin or concanavalin a in mice. (16901963)
2006
32
Adiponectin deficiency exacerbates lipopolysaccharide/D-galactosamine-induced liver injury in mice. (16733851)
2006
33
Insulin resistance after prenatal growth restriction: is it mediated by adiponectin deficiency? (16649963)
2006

Variations for Adiponectin Deficiency

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Sources:
65UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Adiponectin Deficiency:

65
id Symbol AA change Variation ID SNP ID
1ADIPOQp.Arg112CysVAR_013274

Expression for genes affiliated with Adiponectin Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Adiponectin Deficiency

Search GEO for disease gene expression data for Adiponectin Deficiency.

Pathways for genes affiliated with Adiponectin Deficiency

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Sources:
51PathCards, 54QIAGEN, 31KEGG, 61Thomson Reuters, 55R&D Systems, 39NCBI BioSystems Database, 5Cell Signaling Technology
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Pathways related to Adiponectin Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0NOS3, PTGS2
2
Show member pathways
9.0NOS3, PTGS2
3
Show member pathways
Immune response BCR pathway61
Fc-epsilon receptor I signaling in mast cells39
9.0PTGS2, NOS3
4
Show member pathways
Development EGFR signaling via PIP361
Development PDGF signaling via MAPK cascades61
Apoptosis and survival Anti apoptotic action of membrane bound ESR161
Signaling of Hepatocyte Growth Factor Receptor39
Development EGFR signaling via small GTPases61
Development Neurotrophin family signaling61
Apoptosis and survival NGF signaling pathway61
Apoptosis and survival Role of CDK5 in neuronal death and survival61
9.0NOS3, PTGS2
59.0NOS3, PTGS2

Compounds for genes affiliated with Adiponectin Deficiency

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Sources:
46Novoseek, 52PharmGKB, 30IUPHAR, 25HMDB, 12DrugBank, 62Tocris Bioscience
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Compounds related to Adiponectin Deficiency according to GeneCards/GeneDecks:

(show all 44)
idCompoundScoreTop Affiliating Genes
1adma469.8NOS3, ADIPOQ
2metoprolol46 52 30 25 1213.8NOS3, ADIPOQ
3candesartan46 52 30 1212.7ADIPOQ, NOS3
4amlodipine46 52 25 1212.7NOS3, ADIPOQ
5rosuvastatin46 52 30 1212.7ADIPOQ, NOS3
68-isoprostane469.7NOS3, ADIPOQ
7aicar46 25 1211.7ADIPOQ, NOS3
8streptozotocin469.7NOS3, ADIPOQ
9fenofibrate46 52 1211.7ADIPOQ, NOS3
10pravastatin46 52 30 25 1213.7NOS3, ADIPOQ
11palmitate469.7NOS3, ADIPOQ
12homocysteine46 2510.7ADIPOQ, NOS3
13sodium nitroprusside469.6ADIPOQ, NOS3
14atorvastatin46 52 30 25 1213.6ADIPOQ, NOS3
15rosiglitazone30 46 52 25 1213.6NOS3, ADIPOQ
16citrate469.6NOS3, ADIPOQ
172-arachidonoylglycerol46 3010.6ADIPOQ, PTGS2
18drospirenone46 30 52 1212.6ADIPOQ, PTGS2
19simvastatin46 52 62 30 25 1214.6NOS3, ADIPOQ
20folate469.5ADIPOQ, NOS3
21etanercept46 52 1211.5ADIPOQ, PTGS2
22thapsigargin46 6210.5NOS3, ADIPOQ
23prostaglandin f2alpha469.5ADIPOQ, PTGS2
24pioglitazone30 46 52 1212.5PTGS2, ADIPOQ
25glycerol46 25 1211.4ADIPOQ, NOS3
26tetrahydrobiopterin46 25 1211.4NOS3, PTGS2
27ciglitazone46 3010.4PTGS2, NOS3
28methotrexate52 46 1211.4NOS3, ADIPOQ
2915-deoxy-delta-12,14-prostaglandin j2469.4NOS3, PTGS2
30troglitazone46 30 62 1212.4PTGS2, ADIPOQ
31mifepristone46 30 62 1212.4NOS3, PTGS2
32ascorbic acid46 2510.3NOS3, ADIPOQ
33gf 109203x46 6210.3NOS3, PTGS2
34acetylcholine46 52 30 25 1213.3NOS3, ADIPOQ
35resveratrol46 62 25 1212.3NOS3, PTGS2
36heme30 25 1211.2NOS3, PTGS2
37vitamin d469.0NOS3, ADIPOQ
38prostacyclin468.9NOS3, ADIPOQ, PTGS2
39aspirin46 52 30 2511.9PTGS2, ADIPOQ, NOS3
40sb 20358046 629.9PTGS2, ADIPOQ, NOS3
41indomethacin46 30 62 1211.9PTGS2, NOS3
42ly294002468.9PTGS2, ADIPOQ, NOS3
43actinomycin d468.9NOS3, ADIPOQ, PTGS2
44estrogen468.8PTGS2, ADIPOQ, NOS3

GO Terms for genes affiliated with Adiponectin Deficiency

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17Gene Ontology
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Biological processes related to Adiponectin Deficiency according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of blood pressureGO:0457769.4NOS3, ADIPOQ
2response to tumor necrosis factorGO:0346129.2ADIPOQ, PTGS2
3negative regulation of calcium ion transportGO:0519269.2NOS3, PTGS2
4brown fat cell differentiationGO:0508739.1PTGS2, ADIPOQ
5angiogenesisGO:0015259.0NOS3, PTGS2
6regulation of blood pressureGO:0082178.9NOS3, PTGS2
7response to glucocorticoidGO:0513848.8ADIPOQ, PTGS2

Molecular functions related to Adiponectin Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heme bindingGO:0200379.0NOS3, PTGS2

Products for genes affiliated with Adiponectin Deficiency

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Sources for Adiponectin Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet