Summaries for Lipodystrophy

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30NIH Rare Diseases, 44Wikipedia, 22MalaCards
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NIH Rare Diseases: Lipodystrophy refers to a collection of conditions caused by a problem with fat (lipid) metabolism. These conditions can be subclassified in a variety of ways. For example there are generalized, localized, congenital, and acquired forms of lipodystrophy. These conditions are characterized by the destruction (atrophy) of fatty (adipose) tissue. In many of the lipodystrophies there is a redistribution of body fat resulting in the fat collecting primarily in the center of the body.30

MalaCards: Lipodystrophy, also known as lipodystrophy nos (disorder), is related to congenital generalized lipodystrophy and familial partial lipodystrophy. An important gene associated with Lipodystrophy is BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)), and among its related pathways are Adipocytokines & Insulin Signaling and Glucose / Energy Metabolism. The compounds c-peptide and rapamycin have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and adipocyte, and related mouse phenotypes are respiratory system and endocrine/exocrine gland.

Wikipedia: Lipodystrophy is a medical condition characterized by abnormal or degenerative conditions of the body\'s...44 more...

Aliases & Descriptions for Lipodystrophy

Sources:
6Disease Ontology, 7diseasecard, 30NIH Rare Diseases, 8DISEASES, 32Novoseek , 43UMLS, 19ICD9CM, 40SNOMED-CT, 24MeSH
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Aliases & Descriptions:

lipodystrophy 6 7 30 8 32 43
lipodystrophy nos (disorder) 6
lipodystrophy (disorder) 6

External Ids:

ICD9CM19 272.6

Related Diseases for Lipodystrophy

Sources:
13GeneCards, 14GeneDecks
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Diseases related to lipodystrophy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 772)
idRelated DiseaseScoreTop Affiliating Genes
1congenital generalized lipodystrophy36.4BSCL2, LMNA, LEP, GZMH, INS, CAV1
2familial partial lipodystrophy36.4BSCL2, LMNA, LEP, INS, PPARG, AGPAT2
3muscular dystrophy32.0LMNA, LMNB1, CAPN3, CAV3, CAV1, EMD
4mandibuloacral dysplasia31.3BSCL2, LMNA, ZMPSTE24, INS, PPARG, AGPAT2
5lipoatrophic diabetes30.7RETN, LEP, INS, PPARG, ADIPOQ
6obesity30.5UCP1, CARTPT, GHRL, ADRB2, ADRB3
7immunodeficiency30.0CD4, INS, INSR, IL18, IL6, FBN1
8emery-dreifuss muscular dystrophy29.3LMNA, LMNB1, LMNB2, EMD
9hepatitis28.7RBP4, FAS, GPT, HLA-A, HLA-DRB1, TNFRSF1A
10panniculitis28.7CIDEC, FAS, IGFBP3, TNF, PSMB8
11progeria28.6LMNA, LMNB1, LMNB2, ZMPSTE24, INS, EMD
12sleep apnea28.3RETN, LEP, GHR, LSL, ADRB2, ADIPOQ
13cholesteryl ester storage disease28.1LIPA, LDLR, HMGCR, GBA
14acanthosis nigricans27.6BSCL2, LMNA, LEP, INS, INSR, IGF1R
15cushing's syndrome27.0GH1, SST, NR3C1
16polycystic ovary syndrome26.8LEP, INS, INSR, IGFBP1, IGF1R, IGFBP3
17thyroid hormone metabolism26.4INS, IL6, IGF1, TNFRSF1A, DIO1, DIO2
18retinol binding protein26.1RETN, RBP4, NAMPT, LPA, RARB, LIPC
19acute lymphoblastic leukemia25.8CDK1, ITGAM, APOB, IGFBP1, HMGA2, HLA-B
20hypertrophic cardiomyopathy25.1RETN, LMNA, INS, IL6, CCL2, IGFBP1
21respiratory failure24.5RBP4, CD4, ITGAM, INS, IL6, GPT
22proteinuria24.3RBP4, SERPINE1, LPA, LIPA, LEP, CETP
23cataract24.1LMNA, LEP, INS, IL6, FBN1, APOE
24nonalcoholic steatohepatitis24.0RETN, SERPINE1, LPA, LPL, LEP, INS
25insulin resistance23.7LRP1, RETN, RBP4, SERPINE1, BSCL2, NAMPT
26growth hormone deficiency23.7RETN, SERPINE1, LPA, LPL, LIPE, LEP
27hypertriglyceridemia23.5LRP1, RBP4, SERPINE1, BSCL2, NAMPT, LPA
28neurodegeneration23.4LRP1, BSCL2, YWHAE, YWHAZ, LDLR, CETP
29amyloidosis23.3LRP1, RBP4, LPA, LPL, ZMPSTE24, INS
30dermatomyositis22.9CD4, INS, IL6, FBN1, FAS, CCL2
31apnea21.8RETN, RBP4, SERPINE1, NAMPT, LPL, LMNA
32hyperlipidemia21.7LRP1, RETN, RBP4, SERPINE1, NAMPT, LPA
33glomerulonephritis21.4LRP1, RBP4, SERPINE1, LPA, LMNA, LMNB2
34acromegaly21.2RETN, RBP4, SERPINE1, NAMPT, LPA, LPL
35myopathy20.6BSCL2, LMNA, LMNB1, LEP, MT-ND6, CD4
36lymphoblastic leukemia20.0SERPINE1, LPL, LMNB1, RARB, LEP, CDK1
37neuropathy19.7RETN, SERPINE1, BSCL2, LMNA, LMNB1, LEP
38anemia19.7NAMPT, LPIN2, LPL, LMNA, RARB, LIPA
39atherosclerosis19.4LRP1, RETN, RBP4, SERPINE1, NAMPT, LPA
40type 2 diabetes mellitus19.3RETN, RBP4, SERPINE1, NAMPT, LPA, LPIN1
41diabetes mellitus18.9RETN, RBP4, SERPINE1, BSCL2, NAMPT, LPA
42peritonitis18.7LRP1, RBP4, SERPINE1, NAMPT, LPA, LPL
43cervicitis18.4SERPINE1, BSCL2, RARB, LEP, LDLR, CD4
44nephropathy18.3LRP1, RETN, RBP4, SERPINE1, NAMPT, LPA
45hypertension17.4LRP1, RETN, RBP4, SERPINE1, NAMPT, LPA
46leukemia15.1LRP1, RETN, RBP4, SERPINE1, NAMPT, LPL
47majeed syndrome14.1LPIN1, LPIN2, LPIN3
48diabetes, type 214.1INS, IL18, PPARG, NR1H2, ADIPOQ
49chronic kidney failure14.1LPL, LEP, INS, APOC3, HMGCR, NR1H2
50high blood pressure14.1RETN, LPL, LEP, INS, CS, ADRB3

Graphical network of the top 20 diseases related to lipodystrophy:



Graphical network of diseases related to lipodystrophy

Clinical Features for Lipodystrophy

Drugs & Therapeutics for Lipodystrophy

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Genetic Tests for Lipodystrophy

Anatomical Context for Lipodystrophy

Sources:
22MalaCards
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MalaCards organs/tissues related to lipodystrophy:

22
Heart, Skeletal muscle, Adipocyte, Liver, Lung, Thyroid, Ovary, Monocytes, T cells, B lymphoblasts, B cells, Endothelial

Phenotypes for genes affiliated with Lipodystrophy

Sources:
25MGI
See all sources

MGI Mouse Phenotypes related to lipodystrophy:

25 (show all 27)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1respiratory system phenotypeMP:000538810.2GBA, ABCA1, PPARGC1A, APOE, FBN1, INSR
2endocrine/exocrine gland phenotypeMP:000537910.2ADRB3, LTA, LDLR, DIO1, HMGA2, GHRH
3renal/urinary system phenotypeMP:00053679.9CAV1, GHR, TNFRSF1B, DIO1, DIO2, RPS6KA3
4limbs/digits/tail phenotypeMP:00053719.9HMGA2, TNFRSF1A, CRABP1, CRABP2, LTA, AGPAT2
5hematopoietic system phenotypeMP:00053979.9AGPAT2, RPS6KA3, HLA-DQB1, HLA-C, APC, FBN1
6other phenotypeMP:00053959.8C3, ABCA1, NR1H2, TNFRSF1A, CAV1, APOE
7pigmentation phenotypeMP:00011869.5CCL2, FAS, APOE, APOB, APC, FBN1
8liver/biliary system phenotypeMP:00053709.4AGPAT2, HSD11B1, IGFBP1, FABP4, APOB, APOA1
9no phenotypic analysisMP:00030129.0GHRL, HLA-C, SST, PPARG, RPS6KA3, POLG
10integument phenotypeMP:00107718.7GBA, POLG, AGPAT2, RPS6KA3, FAS, APC
11hearing/vestibular/ear phenotypeMP:00053778.6PPARG, CRABP1, CRABP2, PLAT, RPS6KA3, POLG
12nervous system phenotypeMP:00036318.5GBA, HLA-C, HMGA2, GHRH, GHR, CAV1
13digestive/alimentary phenotypeMP:00053818.4C3, DIO1, GHRL, CAV1, IGF1R, CCL2
14reproductive system phenotypeMP:00053898.4GHRH, LIPC, LIPE, RARB, LMNA, LPIN1
15skeleton phenotypeMP:00053908.0PPARG, TNFRSF1B, TNFRSF1A, AKT2, CAV1, NR1H2
16immune system phenotypeMP:00053877.8RPS6KA3, PLAT, NR3C1, PPARD, PPARA, TNFRSF1A
17normal phenotypeMP:00028737.8HTT, CAPN3, AKT2, GHRL, HMGCR, HLA-DQB1
18vision/eye phenotypeMP:00053917.7TNFRSF1A, TNF, CCL2, ANGPTL4, TNFRSF1B, SREBF2
19tumorigenesisMP:00020067.1AKT2, TNF, TNFRSF1A, TNFRSF1B, PPARGC1A, PPARG
20muscle phenotypeMP:00053697.1LIPE, LRP1, ZMPSTE24, RARB, LMNB2, LMNB1
21growth/size phenotypeMP:00053786.8DIO1, FABP4, APOE, APOC3, APOB, APC
22adipose tissue phenotypeMP:00053756.7PPARA, CARTPT, HSD11B1, IGF1, IGFBP3, IGF1R
23behavior/neurological phenotypeMP:00053866.5EMD, C3, AGPAT2, LTA, RPS6KA3, PLIN1
24mortality/agingMP:00107686.2FBN1, RARB, LMNB2, LMNB1, LMNA, LMF1
25cellular phenotypeMP:00053844.7CAV1, FBN1, IL6, IL18, INSR, INS
26cardiovascular system phenotypeMP:00053854.1GBA, ADIPOQ, ADRB2, EMD, C3, SLC2A4
27homeostasis/metabolism phenotypeMP:00053762.2GBA, ADIPOQ, ADRB3, IGF1, APC, FBN1

Publications for genes affiliated with Lipodystrophy

Sources:
35PubMed
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Articles related to lipodystrophy:

(show top 50)    (show all 311)
idTitleAuthorsYearAffiliating Genes
1Characterisation of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-ass ociated PPARI^ mutation (Y151C). (21479595)Visser M.E.... Monajemi H.2011PPARG
2A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. (21881205)Kitamura A.... Yasutomo K.2011PSMB8
3Acquired partial lipodystrophy with C3 hypocomplement emia and antiphospholipid and anticardiolipin antibodies. (20807366)Yavuz S.... AcartA1rk T.O.2010C3
4TNF microsatellite alleles may confer protection agai nst the development of lipodystrophy syndrome in Brazilian HIV patients. (20518840)Silva M.M.... Fernandes A.P.2010TNF
5Leptin therapy in lipodystrophy. (19802712)Savage D.B.... O'Rahilly S.2010LEP
6Inherited lipodystrophies and hypertriglyceridemia. (19494770)Simha V.... Garg A.2009PPARG, LMNA
7Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. (20049731)Rubio-Cabezas O.... Savage D.B.2009INS, CIDEC
8Serum retinol binding protein 4 in patients with fami lial partial lipodystrophy. (19303000)Godoy-Matos A.F.... Moises R.S.2009RBP4
9PPARgamma Pro12Ala polymorphism in HIV-1-infected pat ients with HAART-related lipodystrophy. (19534662)Saumoy M.... Vidal F.2009PPARG
10GH/GHRH axis in HIV lipodystrophy. (18270841)Stanley T.L.... Grinspoon S.K.2009GH1
11The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. (19201734)Wojtanik K.M.... Londos C.2009LMNA
12Dietary intake in HIV-infected men with lipodystrophy : relationships with body composition, visceral fat, lipid, glucose and adipoki ne metabolism. (19601783)Samaras K.... Carr A.2009ADIPOQ, INS
13Adiponectin and leptin levels in Chinese patients wit h HIV-related lipodystrophy: a 30-month prospective study. (20001516)Luo L.... Li T.2009LEP, ADIPOQ
14The human lipodystrophy gene product Berardinelli-Sei p congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiati on. (19574402)Chen W.... Chan L.2009BSCL2
15Relationship between polymerase gamma (POLG) polymorphisms and antiretroviral therapy-induced lipodystrophy in HIV-1 infected patients: a case-control study. (19275594)Chiappini F.... Lemoine A.2009POLG
16Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. (18796515)Agarwal A.K.... Garg A.2008LMNA, ZMPSTE24
17Mitochondrial DNA haplogroups and highly active antiretroviral therapy-related lipodystrophy. (18752438)Nasi M.... Cossarizza A.2008APOA1
18Effect of depot medroxyprogesterone acetate on glucose tolerance in generalized lipodystrophy. (18669758)Yauger B.J.... Stratton P.2008LEP, INS
19Primary lipodystrophies (17320032)Capeau J.... Vigouroux C.2007LMNA, AGPAT2, ZMPSTE24
20Human subcutaneous adipose tissue LPIN1 expression in obesity, type 2 diabetes mellitus, and human immunodeficiency virus--associated lipodystrophy syndrome. (17950103)Miranda M.... Vendrell J.2007LPIN1
21Is oxygen a key factor in the lipodystrophy phenotype? (17049073)Gentil C.... Pietri-Rouxel F.2006ANGPTL4
22Diabetes with partial lipodystrophy following sclerodermatous chronic graft vs. host disease. (16620274)Rooney D.P.... Ryan M.F.2006INS
23Congenital generalized lipodystrophy in a 4 year old Chinese girl. (16269843)Dong G.... Zou C.2005INS
24Lipodystrophy in patients with HIV-1 infection: effect of stopping protease inhibitors on TNF-alpha and TNF-receptor levels, and on metabolic parameters. (15651746)Maher B.... Pirmohamed M.2004TNFRSF1A, TNFRSF1B
25Tumor-level serum testosterone associated with human immunodeficiency virus lipodystrophy syndrome. (15121620)Dahan M.H.... Chang R.J.2004INS
26Different growth hormone sensitivity of target tissues and growth hormone response to glucose in HIV-infected patients with and without lipodystrophy. (15764170)Andersen O.... Flyvbjerg A.2004GHR
27Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. (15372542)Muchir A.... Bonne G.2004LMNA
28Metabolic effects of rosiglitazone in HIV lipodystrophy: a randomized, controlled trial. (15148065)Hadigan C.... Grinspoon S.2004PPARG, ADIPOQ
29Low-dose growth hormone and human immunodeficiency virus-associated lipodystrophy syndrome: a pilot study. (15305891)Andersen O.... Iversen J.2004IGF1
30Acquired and inherited lipodystrophies. (15028826)Garg A.2004AGPAT2
31Unbuckling lipodystrophy from insulin resistance and hypertension. (15254581)Hegele R.A.... Leff T.2004PPARG, INS
32Lipodystrophy, insulin resistance, diabetes mellitus, dyslipidemia, and cardiovascular disease in human immunodeficiency virus infection. (12630645)Tanwani L.K.... Mokshagundam S.L.2003INS
33Serum adipocytokines are related to lipodystrophy and metabolic disorders in HIV-infected men under antiretroviral therapy. (12824788)Vigouroux C.... Bastard J.P.2003CRP, ADIPOQ, INS
34Prevalence of mutations in AGPAT2 among human lipodystrophies. (12765973)MagrAc J.... Lathrop M.2003INS
35Health risks of lipodystrophy and abdominal fat accumulation: therapeutic possibilities with leptin and human growth hormone. (12914718)Van Gaal L.F.... Abrams P.J.2003TNF, LEP, ADIPOQ
36A search for candidate genes for lipodystrophy, obesity and diabetes via gene expression analysis of A-ZIP/F-1 mice. (12676562)Mir A.A.... Vinson C.2003LEP
37Effect of leptin replacement on intrahepatic and intramyocellular lipid content in patients with generalized lipodystrophy. (12502655)Simha V.... Garg A.2003LEP, INS
38Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways. (12826327)Agarwal A.K.... Garg A.2003BSCL2
39Increased serum interferon alpha in HIV-1 associated lipodystrophy syndrome. (11851726)Christeff N.... Gougeon M.L.2002LPA
40A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies. (11929849)Lloyd D.J.... Shackleton S.2002LMNA, SREBF1
41Antiretoviral therapy and the lipodystrophy syndrome, part 2: concepts in aetiopathogenesis. (11808750)Nolan D.... Mallal S.2001CDIPT
42A case of congenital generalized lipodystrophy: metabolic effects of four dietary regimens. Lack of association of CGL with polymorphism in the lamin A/C Gene. (11298098)Kazlauskaite R.... Wajchenberg B.L.2001LMNA
43Metformin in the treatment of HIV lipodystrophy syndrome: A randomized controlled trial. (10904511)Hadigan C.... Grinspoon S.2000INS
44Lessons from lipodystrophy: LMNA, encoding lamin A/C, in HIV therapy-associated lipodystrophy. (10985325)Behrens G.M.... Trembath R.C.2000LMNA
45Changes in cortisol/DHEA ratio in HIV-infected men are related to immunological and metabolic perturbations leading to malnutrition and lipodystrophy. (11268428)Christeff N.... Gougeon M.L.2000APOB
46Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance. (10868844)Hegele R.A.... Cao H.2000LMNA, INS
47The IGF-I/IGFBP system in congenital partial lipodystrophy. (9876344)Janssen J.A.... Lamberts S.W.1998IGF1R, IGF1, IGFBP1
48Studies of insulin resistance in congenital generalized lipodystrophy. (8783770)SA... Pedersen O.1996INS
49Generalised lipodystrophy. (2392709)Choo K.E.... Mafauzy M.1990INS
50The efficacy of using single-component insulin preparations in diabetes mellitus and generalized lipodystrophy (2194203)Gorelysheva V.A.... Arbuzova M.I.1990INS

Expression for genes affiliated with Lipodystrophy

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Lipodystrophy

Pathways for genes affiliated with Lipodystrophy

Sources:
37R&D Systems, 3Cell Signaling Technology, 38Reactome, 20KEGG, 10EMD Millipore, 41Thomson Reuters, 34PharmGKB, 36QIAGEN
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Pathways related to lipodystrophy according to GeneDecks:

(show top 50)    (show all 127)
idPathwayScoreTop Affiliating Genes
1Adipocytokines & Insulin Signaling3710.8INSR, INS, LEP, NAMPT, RBP4, RETN
2Glucose / Energy Metabolism310.8ADIPOQ, SLC2A4, PLIN1, LPIN1, PPARG, PPARGC1A
3Metabolism of lipids and lipoproteins3810.7GPAT2, HSD11B1, SREBF1, PLIN1, AGPAT1, SLC27A1
4PPAR signaling pathway2010.5LPL, SLC27A1, PLIN1, PPARD, PPARA, PPARG
5Adipocytokine signaling pathway2010.4LEP, AKT2, TNF, ADIPOQ, SLC2A4, PPARA
6Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis1010.4YWHAH, YWHAB, YWHAE, YWHAG, YWHAQ, YWHAZ
7Apoptosis and survival_BAD phosphorylation4110.4YWHAZ, YWHAB, YWHAE, AKT2, RPS6KA3, YWHAQ
8Statin Pathway, Pharmacodynamics3410.4HMGCR, APOE, APOC3, LRP1, LPL, APOA1
9G2-M Phase Transition3610.3YWHAE, YWHAG, PSMB8, CDC25C, YWHAZ, YWHAQ
1014-3-3 and Cell Cycle Regulation3610.3YWHAE, YWHAB, YWHAZ, YWHAG, WEE1, CCNB1
11Cell cycle Role of 14-3-3 proteins in cell cycle regulation1010.3YWHAG, WEE1, AKT2, CDK1, CDC25C, YWHAZ
12Cell cycle_Role of 14-3-3 proteins in cell cycle regulation4110.3WEE1, YWHAB, YWHAG, YWHAZ, YWHAH, CDC25C
13Apoptosis and survival BAD phosphorylation1010.2YWHAQ, YWHAZ, CDK1, IGF1R, AKT2, RPS6KA3
1414-3-3 and Regulation of BAD Activity3610.2YWHAG, YWHAH, YWHAQ, YWHAZ, FOXO3, YWHAE
15Graft-versus-host disease2010.2HLA-A, HLA-DPB1, HLA-C, HLA-B
16Insulin Receptor Pathway3610.2YWHAQ, YWHAH, YWHAG, YWHAZ, FOXO3, INSR
17BDNF Pathway3610.2YWHAH, YWHAZ, RPS6KA3, YWHAG, YWHAQ, YWHAB
1814-3-3 Induced Apoptosis3610.1FOXO3, TNF, LTA, YWHAB, TNFRSF1A, YWHAZ
19PGC1Alpha Pathway3610.1CD4, SLC2A4, PPARGC1A, TNFRSF1B, PPARA, TNFRSF1A
20Apoptosis and Autophagy310.1YWHAQ, TNFRSF1A, YWHAZ, LMNA, LMNB1, LMNB2
21Selected targets of GCR-alpha1010.0NR3C1, GHR, IGFBP1, ANGPTL4, IL6, INSR
22Apoptosis Signaling Pathways3710.0YWHAH, TNF, FAS, YWHAZ, YWHAG, TNFRSF1A
23Apoptosis and survival_Caspase cascade4110.0TNF, FAS, IGF1, AKT2, IGF1R, LMNB2
24Apoptosis and survival Caspase cascade1010.0IGF1R, TNFRSF1A, TNF, AKT2, IGF1, FAS
25Cell cycle209.9WEE1, YWHAB, CDK1, CDC25C, YWHAZ, CCNB1
26Development_Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis419.9YWHAE, YWHAB, YWHAZ, IGF1R, IGF1, AKT2
27Cell Cycle / Checkpoint Control39.8YWHAQ, WEE1, CDC25C, TYMS, CDK1, LMNA
28BAD Phosphorylation369.8YWHAE, IGF1, YWHAQ, YWHAB, YWHAH, RPS6KA3
29Development IGF-RI signaling109.7IGFBP3, IGF1, AKT2, IGF1R, FOXO3, IGFBP1
30IGF1R Signaling369.7YWHAQ, SLC2A4, YWHAZ, FOXO3, IGF1R, YWHAH
31Oocyte meiosis209.6CDC25C, CDK1, INS, CCNB1, YWHAZ, IGF1
3214-3-3 Induced Intracellular Signaling369.5YWHAZ, IGF1R, YWHAQ, INSR, IGF1, TNFRSF1A
33Development_IGF-1 receptor signaling419.5RPS6KA3, AKT2, IGF1, IGF1R, IGFBP3, IGFBP1
34Selected targets of HNF1109.3ABCA1, APOB, APOA1, INS, LPA, IGFBP1
35Allograft rejection209.2HLA-B, HLA-DPB1, HLA-DQB1, HLA-A, TNF, FAS
36Type I diabetes mellitus209.2HLA-DQB1, LTA, TNF, HLA-B, HLA-DRB1, HLA-DPB1
37Akt Signaling369.1IL6, IGF1R, IL18, LTA, SLC2A4, CXCL12
38p70S6K Signaling369.0YWHAZ, YWHAB, IGF1, YWHAE, YWHAG, GH1
39DHA Signaling368.9IGF1R, IGF1, AKT2, YWHAQ, YWHAH, YWHAZ
40Antigen processing and presentation208.9CD4, HLA-C, HLA-DPB1, HLA-DQB1, HLA-DRB1
41ERK5 Signaling368.9IL6, YWHAE, IGF1R, YWHAH, YWHAQ, YWHAZ
42PPAR Pathway368.8IGF1, PPARG, ITGAM, IL6, IGF1R, PPARA
43Molecular Mechanisms of Cancer368.7CD4, APC, FBN1, RARB, IL6, TNFRSF1B
44Apoptotic Pathways in Synovial Fibroblasts368.7TNFRSF1A, LTA, TNFRSF1B, IGF1R, IL6, CXCL12
45JAK-STAT Pathway368.1GH1, CXCL12, TNFRSF1B, TNFRSF1A, GHRH, GHR
46Activation of PKA through GPCR368.0GHRH, LIPE, ADRB3, ADRB2, CXCL12, YWHAB
47p38 Signaling367.9GHRH, GH1, IGF1, IGF1R, CCL2, TNF
48Tec Kinases Signaling367.9CD4, TNFRSF1A, TNF, GHRH, GH1, IGF1
49Activation of cAMP-Dependent PKA367.9YWHAE, CRP, LIPE, YWHAB, YWHAG, YWHAH
50cAMP Pathway367.8CRP, IL6, YWHAQ, YWHAZ, AKT2, GH1

Compounds for genes affiliated with Lipodystrophy

Sources:
32Novoseek , 42Tocris Bioscience, 9DrugBank, 18HMDB, 34PharmGKB
See all sources

Compounds related to lipodystrophy according to GeneDecks:

(show top 50)    (show all 384)
idCompoundScoreTop Affiliating Genes
1c-peptide32 10.2RETN, LEP, UCP1, INSR, GHR, GHRL
2rapamycin32 42 11.0LDLR, CDK1, FOXO3, INS, CCNB1, IGF1R
3isoproterenol32 9 9 11.8LIPE, ITGAM, INSR, APC, CAV3, GH1
4palmitate32 9.7LIPA, LDLR, UCP1, CETP, APOA1, FABP4
5h2o232 9.7LPA, LEP, LDLR, UCP1, ITGAM, INSR
6glycerol32 9 18 9 12.6LPL, LIPE, LIPC, LEP, CDK1, INS
7aspartate32 9.6RETN, RBP4, LIPE, LDLR, UCP1, CETP
8cholesterol ester32 9.6LRP1, LPA, LIPA, LIPE, LIPC, LDLR
9intralipid32 9.5LPL, LIPC, LEP, CETP, APOA1, APOB
10pge232 9.5LDLR, CD4, APC, APOA1, IGF1R, TNFRSF1B
11sterol32 9.4LRP1, RETN, LIPE, LIPC, LDLR, CETP
12ibmx32 9.4LPL, RARB, INS, INSR, APOE, IGF1R
13phospholipid32 9.3RBP4, LPL, LIPA, LIPE, LIPC, LDLR
14gemfibrozil32 9 9 11.3LPA, LPL, LIPC, LDLR, CETP, INS
15epinephrine32 9 18 9 12.2LIPE, LEP, ITGAM, INS, INSR, APC
16linoleic acid32 18 10.2LPL, LDLR, UCP1, CETP, ITGAM, APC
17niacin32 9 9 11.2NAMPT, LPA, LPL, LIPE, LDLR, CETP
18ezetimibe32 9 9 11.2LDLR, CETP, INS, APOA1, APOB, GPT
19estradiol32 9 18 9 12.1SERPINE1, RARB, CDK1, GTF2B, IL18, CCNB1
20heparin32 9 18 9 12.0LRP1, SERPINE1, LPA, LPL, LIPC, CETP
21triiodothyronine32 9.0RBP4, LIPC, LEP, UCP1, IGFBP1, IGFBP3
22cyclosporin a32 42 9.9LPL, LIPC, LEP, LDLR, CETP, ITGAM
23ly29400232 8.9RETN, LEP, CDK1, ITGAM, IL18, IL6
24progesterone32 42 9 18 9 12.8RBP4, RARB, UCP1, CDC25C, CDK1, FBN1
25thiazolidinedione32 8.8RETN, SERPINE1, LPL, LEP, UCP1, INS
26phosphatidylinositol32 8.8LRP1, RETN, NAMPT, LEP, UCP1, CDIPT
27rosuvastatin32 34 9 9 11.8LDLR, CETP, INS, IL6, APOA1, APOB
28alpha tocopherol32 8.6RBP4, LPL, RARB, LEP, LDLR, CETP
29vitamin a32 9 18 9 11.4RETN, RBP4, LPL, RARB, LIPC, LEP
30bezafibrate32 9 9 10.4SERPINE1, LPA, LPL, LIPC, LDLR, UCP1
31cysteine32 8.4LRP1, RBP4, LPA, LMNB1, RARB, LIPA
32metformin32 34 9 9 11.3RETN, SERPINE1, NAMPT, LPL, LEP, INS
33nitric oxide32 9 18 9 11.2RETN, LPA, LIPE, UCP1, ITGAM, FOXO3
34tamoxifen32 34 9 9 11.2LPL, LEP, LDLR, CETP, APOA1, APOB
35p00332 8.2RETN, SERPINE1, LIPC, LEP, UCP1, IGFBP3
36testosterone32 9 18 9 11.1LPL, RARB, LIPA, LIPC, CETP, CDK1
37ribonucleic acid32 7.7RBP4, NAMPT, RARB, LIPA, LIPE, UCP1
38thyroxine32 18 8.7RETN, RBP4, LPA, LPL, LIPC, LEP
39fenofibrate32 9 9 9.5RETN, SERPINE1, LPA, LPL, LIPC, LEP
40oligonucleotide32 7.3LRP1, NAMPT, RARB, LIPA, LIPE, CD4
41norepinephrine32 9 18 9 10.2RETN, LPL, LIPE, LEP, UCP1, INS
42methotrexate32 34 42 9 9 11.1SERPINE1, LEP, IL18, IL6, CCNB1, GPT
43aspirin32 34 18 9.0SERPINE1, LPA, LDLR, CETP, ITGAM, IL18
44creatinine32 6.7RETN, RBP4, NAMPT, LMNA, LEP, ITGAM
45dexamethasone32 42 34 9 9 9.9LRP1, RETN, RBP4, SERPINE1, NAMPT, LPL
46alanine32 5.6RETN, RBP4, LMNA, LDLR, MT-ND6, CETP
47vegf32 5.2LRP1, RETN, SERPINE1, LPA, LEP, CDK1
48cycloheximide32 4.7RETN, SERPINE1, LPL, RARB, LEP, LDLR
49tyrosine32 4.5LRP1, RETN, LMNB1, RARB, LIPC, YWHAH
50serine32 3.6LRP1, RBP4, SERPINE1, LMNA, LMNB2, ZMPSTE24

GO Terms for genes affiliated with Lipodystrophy

Sources:
12Gene Ontology
See all sources

Cellular components related to lipodystrophy according to GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1lamin filamentGO:00563810.6LMNA, LMNB1, LMNB2
2chylomicronGO:04262710.6APOE, APOC3, APOB, APOA5, LPL
3intermediate-density lipoprotein particleGO:03436310.6APOB, APOC3, APOE
4caveolaGO:00590110.6ADRB2, SLC27A1, PTRF, CAV1, CAV3, INSR
5lipid particleGO:00581110.6PLIN1, CAV1, FABP4, CIDEC, LIPE
6low-density lipoprotein particleGO:03436210.6APOE, APOB, APOA5, LDLR
7very-low-density lipoprotein particleGO:03436110.5APOE, APOC3, APOB, APOA5, APOA1, LPL
8Golgi membraneGO:00013910.2SREBF2, SREBF1, HLA-DQB1, HLA-DPB1, CAV1, CAV3
9endoplasmic reticulumGO:00578310.2ADIPOQ, EMD, SLC27A1, AGPAT2, AGPAT1, CRABP2
10high-density lipoprotein particleGO:03436410.1PON1, APOE, APOA5, APOA1, CETP, LIPC
11endoplasmic reticulum membraneGO:00578910.1HSD11B1, HMGCR, DIO1, SREBF1, AGPAT1, AGPAT2
12clathrin-coated endocytic vesicle membraneGO:0306699.9HLA-DRB1, HLA-DQB1, HLA-DPB1, APOB, LDLR
13spherical high-density lipoprotein particleGO:0343669.9PON1, APOC3, APOA1
14membrane raftGO:0451219.7ABCA1, TNFRSF1B, TNFRSF1A, TNF, CAV1, CAV3
15nucleoplasmGO:0056549.6PPARG, PPARA, PPARD, NR1H2, NR3C1, RPS6KA3
16ER to Golgi transport vesicle membraneGO:0125079.4SREBF2, SREBF1, HLA-DRB1, HLA-DQB1, HLA-DPB1, HLA-C
17integral to lumenal side of endoplasmic reticulum membraneGO:0715569.4HLA-DRB1, HLA-DQB1, HLA-DPB1, HLA-C, HLA-B, HLA-A
18cytosolGO:0058298.3CCNB1, GPT, HTT, CAPN3, CAV1, AKT2
19extracellular spaceGO:0056155.6ADIPOQ, IGFBP3, IGF1, CARTPT, GH1, GHR
20extracellular regionGO:0055765.3GHRL, GHRH, GHR, GH1, IGF1, IGFBP3

Biological processes related to lipodystrophy according to GeneDecks:

(show top 50)    (show all 82)
idNameGO IDScoreTop Affiliating Genes
1triglyceride biosynthetic processGO:01943210.8GPAT2, AGPAT1, LPL, AGPAT2, LPIN1, LPIN2
2response to coldGO:00940910.7ADRB2, IL18, DIO2, ADRB3, PPARG, SLC27A1
3negative regulation of cholesterol storageGO:01088710.7NR1H2, PPARA, PPARG, ABCA1
4glycerophospholipid biosynthetic processGO:04647410.6AGPAT2, LPIN2, CDIPT, GPAT2, AGPAT1, LPIN1
5triglyceride catabolic processGO:01943310.6LIPC, APOB, APOC3, FABP4, PLIN1, APOA5
6brown fat cell differentiationGO:05087310.6PPARGC1A, PPARG, FABP4, SLC2A4, ADRB3, ADIPOQ
7triglyceride metabolic processGO:00664110.6CAV3, APOC3, CAV1, APOE, APOA5, LPL
8Cdc42 protein signal transductionGO:03248810.6APOA1, APOC3, APOE, ABCA1
9cholesterol transportGO:03030110.6APOA1, CETP, APOB, CAV1, LDLR
10fatty acid metabolic processGO:00663110.6PPARA, GHR, SLC27A1, LIPA, LPIN3, LPIN2
11chylomicron remnant clearanceGO:03438210.6APOE, APOC3, LIPC, LMF1
12phosphatidylcholine biosynthetic processGO:00665610.6SLC27A1, LPIN3, APOA1, LPIN2, LPIN1
13cholesterol effluxGO:03334410.5APOE, APOA1, ABCA1, APOC3, CAV1
14positive regulation of cholesterol effluxGO:01087510.5PON1, ADIPOQ, LRP1, APOE, NR1H2, ABCA1
15cellular lipid metabolic processGO:04425510.5APOA1, LPIN2, APOA5, NR1H2, AGPAT1, AGPAT2
16very-low-density lipoprotein particle remodelingGO:03437210.4APOE, CETP, LIPC, LPL
17high-density lipoprotein particle remodelingGO:03437510.4APOE, APOC3, APOA1, CETP, LIPC
18glucose homeostasisGO:04259310.4INS, RBP4, SERPINE1, PPARG, CAV3, ADIPOQ
19triglyceride homeostasisGO:07032810.4ANGPTL4, APOC3, APOA5, APOA1, CETP, LIPC
20phospholipid effluxGO:03370010.3APOA1, APOC3, APOE, ABCA1
21receptor-mediated endocytosisGO:00689810.3LPA, LDLR, CETP, APOB, APOE, ADRB2
22negative regulation of MAP kinase activityGO:04340710.3APOE, GBA, ADIPOQ, HMGCR, CAV3
23reverse cholesterol transportGO:04369110.3ABCA1, CETP, LIPC, APOA1, APOC3, APOE
24cellular response to insulin stimulusGO:03286910.3ADIPOQ, INSR, AKT2, GHR, SLC2A4, PPARG
25MAPK cascadeGO:00016510.3YWHAB, IL18, CDK1, INS, TNF, CAV1
26positive regulation of glucose importGO:04632610.2INS, INSR, IGF1, AKT2, ADIPOQ
27cholesterol metabolic processGO:00820310.2CETP, LDLR, LEP, LIPC, LIPE, APOA1
28cholesterol homeostasisGO:04263210.2LIPC, LDLR, CETP, APOA1, APOA5, APOB
29negative regulation of inflammatory responseGO:05072810.2TNFRSF1B, TNFRSF1A, GHRL, ADRB2, APOE, ADIPOQ
30lipoprotein metabolic processGO:04215710.2APOA5, APOE, APOC3, PPARA, LPA, LPL
31lipid metabolic processGO:00662910.1PPARD, PLIN1, ABCA1, CETP, LPL, LPIN2
32response to ethanolGO:04547110.0RBP4, CDK1, INSR, CCL2, TNFRSF1A, SLC2A4
33negative regulation of smooth muscle cell migrationGO:0149129.9ADIPOQ, IGFBP3, LRP1, SERPINE1
34response to activityGO:0148239.9CDK1, NR3C1, TNF, INSR, CCL2
35negative regulation of macrophage derived foam cell differentiationGO:0107459.8ADIPOQ, PPARG, ABCA1, CRP, NR1H2, PPARA
36G-protein coupled receptor signaling pathwayGO:0071869.7CCL2, C3, ABCA1, SST, GHRL, CARTPT
37response to drugGO:0424939.4CAV1, FAS, TNF, SST, PPARG, LTA
38apoptotic processGO:0069159.4LMNB1, CAPN3, AKT2, TNF, TNFRSF1A, PSMB8
39transcription initiation from RNA polymerase II promoterGO:0063679.4SERPINE1, RARB, GTF2B, PPARGC1A, PPARG, PPARA
40positive regulation of MAPK cascadeGO:0434109.3INS, INSR, LEP, IL6, IGFBP3, IGF1
41small molecule metabolic processGO:0442819.3INS, APOA1, APOA5, APOB, CETP, CDIPT
42positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435689.3GHRH, IGF1, IGFBP3, GH1
43positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.3CD4, INS, IGF1, GH1, GHR, ADIPOQ
44response to glucocorticoid stimulusGO:0513849.2ADIPOQ, PLAT, CAV1, SERPINE1, CCL2, GHR
45negative regulation of apoptotic processGO:0430669.0ANGPTL4, INS, CAPN3, GHRL, HMGA2, TNF
46anti-apoptosisGO:0069169.0TNF, HTT, IGF1R, CCL2, FAS, NR3C1
47positive regulation of transcription from RNA polymerase II promoterGO:0459448.9FOXO3, RARB, IL6, SERPINE1, IGF1, PPARA
48response to hypoxiaGO:0016668.8TNFRSF1A, PPARA, CAV1, ANGPTL4, CRP, LTA
49signal transductionGO:0071658.6NAMPT, CD4, FAS, RPS6KA3, ANGPTL4, CRABP2
50cytokine-mediated signaling pathwayGO:0192218.4HLA-A, PSMB8, TNFRSF1A, HLA-DRB1, HLA-DQB1, HLA-DPB1

Molecular functions related to lipodystrophy according to GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1thyroxine 5-deiodinase activityGO:00480010.6DIO3, DIO2, DIO1
2steroid hormone receptor activityGO:00370710.3NR1H2, PPARD, PPARA, PPARG, RARB
3cholesterol transporter activityGO:01712710.2CETP, APOA1, APOB, ABCA1
4apolipoprotein bindingGO:03418510.1ABCA1, LIPC, LPA, LRP1
5insulin-like growth factor receptor bindingGO:00515910.1IGF1, INSR, INS, YWHAH, YWHAG
6protein domain specific bindingGO:01990410.1YWHAB, YWHAE, YWHAG, YWHAH, YWHAQ, YWHAZ
7enzyme bindingGO:0198999.9PPARG, CAV1, APOB, APOA5, APOA1, CD4
8hormone activityGO:0051799.9ADIPOQ, SST, GH1, IGF1, INS, LEP
9protease bindingGO:0020209.9SERPINE1, INS, TNF, TNFRSF1A, POLG
10heparin bindingGO:0082019.8CCL2, APOE, APOB, APOA5, LIPC, LPL
11insulin-like growth factor I bindingGO:0319949.8IGFBP3, IGF1R, INSR
12cholesterol bindingGO:0154859.5ABCA1, CRP, CAV1, APOC3, APOA1, CETP
13receptor bindingGO:0051029.2GBA, ADIPOQ, C3, CXCL12, LTA, HLA-B
14protein bindingGO:0055154.3ADIPOQ, SREBF2, SREBF1, PTRF, TNFRSF1B, TNFRSF1A

Sources for Lipodystrophy

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS