MCID: LPD010
MIFTS: 53

Lipodystrophy malady

Summaries for Lipodystrophy

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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. last updated: 7/31/2009

MalaCards: Lipodystrophy, also known as lipodystrophy nos, is related to familial partial lipodystrophy and berardinelli-seip congenital lipodystrophy. An important gene associated with Lipodystrophy is BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)), and among its related pathways are Adipogenesis and Glucose / Energy Metabolism. The compounds lipid and cholesterol have been mentioned in the context of this disorder. Related mouse phenotypes are homeostasis/metabolism and liver/biliary system.

Wikipedia:64 Lipodystrophy is a medical condition characterized by abnormal or degenerative conditions of the body\'s... more...

Aliases & Classifications for Lipodystrophy

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 27ICD9CM, 35MeSH
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Aliases & Descriptions:

lipodystrophy 8 43 10 45 61
lipodystrophy nos 8


External Ids:

Disease Ontology8 DOID:811
ICD9CM27 272.6
MeSH35 D008060

Related Diseases for Lipodystrophy

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Lipodystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 270)
idRelated DiseaseScoreTop Affiliating Genes
1familial partial lipodystrophy31.2BSCL2, PPARG, AGPAT2, EMD, INS, LEP
2berardinelli-seip congenital lipodystrophy31.0AGPAT2, BSCL2
3insulin resistance31.0PPARG, LEP, PLIN1, LMNA, LSL, BSCL2
4congenital generalized lipodystrophy type 230.7ZMPSTE24, PPARG, AGPAT2, INS, ADIPOQ, LMNA
5acquired generalized lipodystrophy30.7ADIPOQ, RETN, LEP
6mandibuloacral dysplasia30.4ZMPSTE24, LMNA
7atherosclerosis30.3CAV1, LSL, ADIPOQ, PPARG, LEP, INS
8progeria30.1EMD, ZMPSTE24, LMNA
9emery-dreifuss muscular dystrophy30.1EMD, LMNA
10hypertriglyceridemia30.0ADIPOQ, LEP, INS, BSCL2, PPARG, LSL
11acanthosis nigricans29.9INS, ADIPOQ, LMNA, BSCL2, LEP, AGPAT2
12fatty liver disease29.9LSL, ADIPOQ, SREBF1, LEP, INS, RETN
13cushing's syndrome29.9LSL, RETN, LEP, ADIPOQ
14werner syndrome29.9LMNA
15polycystic ovary syndrome29.7RETN, INS, LEP, LMNA, ADIPOQ, LSL
16acromegaly29.7RETN, ADIPOQ, LEP, LSL, INS
17vascular disease29.7CAV1, RETN, ADIPOQ, INS, PPARG
18growth hormone deficiency29.7LSL, INS, LEP, ADIPOQ
19majeed syndrome29.7LPIN2
20acute pancreatitis29.7RETN
21tuberculosis29.7LSL
22congenital generalized lipodystrophy10.8
23lip disease10.5
24congenital generalized lipodystrophy type 410.5
25barraquer-simons syndrome10.4
26congenital generalized lipodystrophy type 110.4
27lipodystrophy, familial partial, type 210.4
28n syndrome10.4
29atypical lipodystrophy10.4
30mandibuloacral dysplasia with type b lipodystrophy10.3
31familial partial lipodystrophy, kobberling type10.3
32centrifugal lipodystrophy10.3
33lipoatrophic diabetes10.3
34short syndrome10.3
35autoinflammation, lipodystrophy, and dermatosis syndrome10.3
36mandibuloacral dysplasia with type a lipodystrophy10.2
37congenital generalized lipodystrophy type 310.2
38familial partial lipodystrophy type 410.2
39membranoproliferative glomerulonephritis10.2
40whipple disease10.2
41familial partial lipodystrophy type 310.2
42lipodystrophy due to peptidic growth factors deficiency10.2
43adult dermatomyositis10.1
44micro syndrome10.1
45chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature10.1
46insulin resistance, severe, digenic10.1
47lipodystrophy - intellectual deficit - deafness10.1
48marfan syndrome10.0
49jmp syndrome10.0
50acquired immunodeficiency syndrome10.0

Graphical network of the top 20 diseases related to Lipodystrophy:



Diseases related to lipodystrophy

Clinical Features for Lipodystrophy

Drugs & Therapeutics for Lipodystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Lipodystrophy

Drug clinical trials:

Search ClinicalTrials for Lipodystrophy

Search NIH Clinical Center for Lipodystrophy

Search CenterWatch for Lipodystrophy

Genetic Tests for Lipodystrophy

Anatomical Context for Lipodystrophy

Animal Models for Lipodystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Lipodystrophy

Sources:
51PubMed
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Articles related to Lipodystrophy:

(show top 50)    (show all 794)
idTitleAuthorsYear
1
Lipodystrophy caused by repetitive pegylated interferon injection. (23994998)
2013
2
Leptin in the treatment of lipodystrophy-associated nonalcoholic fatty liver disease: are we there already? (23985000)
2013
3
Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy. (24024685)
2013
4
Lipodystrophy and inflammation predict later grip strength in HIV-infected men: the MACS Body Composition substudy. (23550976)
2013
5
Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome. (23849162)
2013
6
A Chinese patient with acquired partial lipodystrophy caused by a novel mutation with LMNB2 gene. (22768673)
2012
7
Lipodystrophy and adrenal insufficiency: potential mediators of peripheral neuropathy in HIV infection? (22244839)
2012
8
Premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy and hypertriglyceridemia. (22989829)
2012
9
MRI signal changes of the bone marrow in HIV-infected patients with lipodystrophy: correlation with clinical parameters. (21479859)
2011
10
Laser, light, and energy devices for cellulite and lipodystrophy. (21824543)
2011
11
Lipodystrophy, insulin resistance, and adiponectin concentration in HIV-infected children and adolescents. (21827385)
2011
12
Regional decrease of subcutaneous adipose tissue in patients with type 2 familial partial lipodystrophy is associated with changes in thyroid hormone metabolism. (20373986)
2010
13
Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family. (20625965)
2010
14
Lipodystrophy and muscular dystrophy caused by PTRF mutations. (20447152)
2010
15
Case report: unicameral bone cysts in a young patient with acquired generalized lipodystrophy. (19924491)
2010
16
W(h)ither metreleptin for lipodystrophy and the metabolic syndrome? (20350904)
2010
17
Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. (20684003)
2010
18
Lafora disease and congenital generalized lipodystrophy: a case report. (19951852)
2009
19
Key data from the 10th International Workshop on Adverse Drug Reactions and Lipodystrophy in HIV, 6-8 November 2008, London, UK. (19195338)
2008
20
The fatty acid binding protein-4 (FABP4) is a strong biomarker of metabolic syndrome and lipodystrophy in HIV-infected patients. (17983623)
2008
21
Centrifugal lipodystrophy mimicking 'lipodystrophia centrifugalis abdominalis infantilis' in a Caucasian adult. (17894715)
2007
22
Muscle and nerve pathology in Dunnigan familial partial lipodystrophy. (17325275)
2007
23
Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil. (17535271)
2007
24
Occasional finding of mesenteric lipodystrophy during laparoscopy: a difficult diagnosis. (17879414)
2007
25
Lipodystrophy and metabolic changes in HIV-infected children on non-nucleoside reverse transcriptase inhibitor-based antiretroviral therapy. (18240864)
2007
26
Metabolic syndrome and cardiovascular risk in HIV-infected patients with lipodystrophy. (17880765)
2007
27
Berardinelli-Seip congenital lipodystrophy. (16735770)
2006
28
Ocular complications in acquired partial lipodystrophy. (17099101)
2006
29
HIV-infected patients with lipodystrophy have higher rates of carotid atherosclerosis: the role of monocyte chemoattractant protein-1. (16697654)
2006
30
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. (15732094)
2005
31
Familial partial lipodystrophy complicated by pre-eclampsia. (15814388)
2005
32
A single-base mutation in the peroxisome proliferator-activated receptor gamma4 promoter associated with altered in vitro expression and partial lipodystrophy. (15531525)
2004
33
Human immunodeficiency virus type-1 accessory protein Vpr: a causative agent of the AIDS-related insulin resistance/lipodystrophy syndrome? (15265780)
2004
34
Proteinuric nephropathy in acquired and congenital generalized lipodystrophy: baseline characteristics and course during recombinant leptin therapy. (15240593)
2004
35
Lipodystrophy, insulin resistance, diabetes mellitus, dyslipidemia, and cardiovascular disease in human immunodeficiency virus infection. (12630645)
2003
36
Adipocyte-derived hormone levels in HIV lipodystrophy. (12713059)
2003
37
Lipodystrophy in human immunodeficiency virus patients impairs insulin action and induces defects in beta-cell function. (14564688)
2003
38
Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy. (12490190)
2003
39
Risk factors for diabetes in familial partial lipodystrophy, Dunnigan variety. (12716787)
2003
40
HIV lipodystrophy: prevalence, severity and correlates of risk in Australia. (12859330)
2003
41
Post-mortem findings in familial partial lipodystrophy, Dunnigan variety. (12647844)
2002
42
Does race protect an oriental population from developing lipodystrophy in HIV-infected individuals on HAART? (11972416)
2002
43
Alteration of tumor necrosis factor-alpha T-cell homeostasis following potent antiretroviral therapy: contribution to the development of human immunodeficiency virus-associated lipodystrophy syndrome. (10807787)
2000
44
ONTARIO. Hepatic lipodystrophy in 2 Galloway calves. (17424612)
2000
45
Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy. (11078466)
2000
46
A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. (10487716)
1999
47
Pathogenesis of HIV-1-protease inhibitor-associated peripheral lipodystrophy, hyperlipidaemia, and insulin resistance. (9652687)
1998
48
The skeleton in congenital, generalized lipodystrophy: evaluation using whole-body radiographic surveys, magnetic resonance imaging and technetium-99m bone scintigraphy. (1523434)
1992
49
Insulin resistance in a boy with congenital generalized lipodystrophy. (3060827)
1988
50
Congenital lipodystrophy and polycystic ovarian disease. (7230151)
1981

Genetic Variations for Lipodystrophy

Expression for genes affiliated with Lipodystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Lipodystrophy

Search GEO for disease gene expression data for Lipodystrophy.

Pathways for genes affiliated with Lipodystrophy

Sources:
38NCBI BioSystems Database, 4Cell Signaling Technology, 54Reactome, 30KEGG, 12EMD Millipore, 53R&D Systems
See all sources

Pathways related to Lipodystrophy according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.9ADIPOQ, PPARG, BSCL2, LPIN2, LPIN1, LPIN3
210.6PPARG, LPIN1, INS, PLIN1, SREBF1, ADIPOQ
3
Hide members
10.6LPIN2, LPIN1, LPIN3, AGPAT2, SREBF1
4
Hide members
10.6PPARG, INS, LEP, SREBF1, ADIPOQ
5
Hide members
10.6LPIN2, LPIN1, LPIN3, AGPAT2
6
Hide members
10.6AGPAT2, LPIN3, LPIN1, LPIN2
710.6AGPAT2, LPIN3, LPIN1, LPIN2
810.6LMNB2, LMNA, EMD, CAV1
9
Hide members
10.6PPARG, LPIN1, INS, SREBF1
1010.6PPARG, LEP, PLIN1, ADIPOQ
11
Hide members
10.6LPIN3, LPIN1, LPIN2
12
Apoptosis and survival Caspase cascade
Hide members
10.6LMNA, LMNB2, SREBF1
1310.6LEP, INS, CAV1
1410.6LEP, INS, LPIN1
15
Hide members
10.6INS, LEP, PLIN1
1610.6ADIPOQ, SREBF1, LEP
1710.6PPARG, PLIN1, ADIPOQ
18
Hide members
10.5LMNA, EMD
19
Hide members
10.5ADIPOQ, RETN

Compounds for genes affiliated with Lipodystrophy

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 60Tocris Bioscience
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Compounds related to Lipodystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 79)
idCompoundScoreTop Affiliating Genes
1lipid4511.3PPARG, SREBF1, LMNA, CAV1, ADIPOQ, LPIN1
2cholesterol45 29 11 2414.2LSL, CAV1, ADIPOQ, LMNA, PLIN1, LEP
3glucose4511.2LMNA, ADIPOQ, LSL, SREBF1, PLIN1, LEP
4rosiglitazone45 50 29 11 2415.2ADIPOQ, LEP, LPIN1, CAV1, LSL, PPARG
5triacylglycerol4511.1INS, AGPAT2, LSL, ADIPOQ, SREBF1, PLIN1
6metformin45 50 1113.1LEP, LSL, PPARG, RETN, INS, ADIPOQ
7testosterone45 60 11 2414.1PPARG, RETN, SREBF1, LEP, INS, CAV1
8ly2940024511.1RETN, PPARG, SREBF1, ADIPOQ, CAV1, LEP
9thyroxine45 2412.1ADIPOQ, LEP, RETN, INS, PPARG, LSL
10nash4511.1LSL, ADIPOQ, RETN, LEP, INS
11sterol4511.0EMD, RETN, SREBF1, PPARG, CAV1, ADIPOQ
12orlistat45 60 1113.0LSL, ADIPOQ, LEP, INS, PPARG
13thiazolidinedione4511.0ADIPOQ, RETN, INS, PPARG, LEP
14glycerol 3-phosphate45 2412.0PLIN1, SREBF1, PPARG, ADIPOQ, LEP
15fenofibrate45 50 1113.0ADIPOQ, PPARG, RETN, INS, LEP
16fatty acid4511.0PPARG, PLIN1, LSL, CAV1
17glycerol45 11 2413.0PLIN1, LEP, INS, ADIPOQ, PPARG, LSL
18c-peptide4511.0RETN, ADIPOQ, LEP, LSL, INS
19sibutramine45 1112.0ADIPOQ, LSL, INS, LEP
20serine4511.0ZMPSTE24, INS, LEP, PLIN1, LMNB2, SREBF1
21dhea4511.0INS, ADIPOQ, LSL, RETN, LEP
22acipimox45 2912.0INS, LEP, LSL, ADIPOQ
23pioglitazone45 50 29 1114.0ADIPOQ, PPARG, RETN, INS, LEP
24glimepiride45 50 1113.0INS, RETN, PPARG, ADIPOQ
25telmisartan45 29 1113.0LEP, INS, ADIPOQ, PPARG
26troglitazone45 29 60 1114.0LSL, PPARG, INS, LEP, ADIPOQ
27dexamethasone45 50 29 1114.0LSL, LEP, PPARG, RETN, CAV1, INS
288-isoprostane4511.0ADIPOQ, LEP, INS, RETN
29aicar45 11 2413.0PPARG, INS, ADIPOQ, LEP
30ritonavir45 50 1112.9SREBF1, PPARG, INS, ADIPOQ
31arginine4510.9SREBF1, LMNA, ADIPOQ, LEP, INS, LSL
32olanzapine50 45 29 11 2414.9LEP, INS, LSL, ADIPOQ
33phosphatidylinositol4510.9LSL, RETN, INS, CAV1, ADIPOQ, SREBF1
34stavudine45 1111.9PPARG, LEP, ADIPOQ
35norepinephrine45 11 2412.9RETN, PLIN1
36beta-hydroxybutyrate4510.9LEP, INS, LSL
37pravastatin45 50 29 11 2414.9ADIPOQ, LEP, PPARG, LSL
38amprenavir45 1111.9PPARG, ADIPOQ, SREBF1
39androstenedione45 2411.9ADIPOQ, LEP, INS, LSL
40alanine4510.9LMNA, CAV1, LSL, PPARG, RETN, ADIPOQ
41creatinine4510.8LEP, LMNA, LSL, RETN, ADIPOQ, INS
42dehydroepiandrosterone sulfate4510.8LSL
43intralipid4510.8LEP, INS, LSL
44linoleic acid45 29 2412.7LSL, ADIPOQ, PPARG, SREBF1
45p0034510.6RETN, LSL
46actos4510.6PPARG, INS
47p0024510.6LEP, RETN, LSL, ADIPOQ
48nelfinavir45 50 1112.6SREBF1, LMNA, ADIPOQ
49palmitate4510.5CAV1, INS, ADIPOQ
50atorvastatin45 50 29 11 2414.3ADIPOQ, SREBF1, RETN, PPARG

GO Terms for genes affiliated with Lipodystrophy

Sources:
16Gene Ontology
See all sources

Cellular components related to Lipodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:00578310.7ADIPOQ, CAV1, AGPAT2, EMD, PLIN1, SREBF1
2nuclear inner membraneGO:00563710.6LMNB2, EMD, ZMPSTE24
3nuclear envelopeGO:00563510.6SREBF1, LMNA, EMD
4endoplasmic reticulum membraneGO:00578910.6LPIN2, LPIN1, LPIN3, ZMPSTE24, AGPAT2, SREBF1
5nuclear laminaGO:00565210.2LMNB2, LMNA

Biological processes related to Lipodystrophy according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:04428111.0CAV1, LPIN2, LPIN1, LPIN3, AGPAT2, INS
2glycerophospholipid biosynthetic processGO:04647410.9AGPAT2, LPIN3, LPIN1, LPIN2
3phosphatidylethanolamine biosynthetic processGO:00664610.9LPIN3, LPIN1, LPIN2
4lipid metabolic processGO:00662910.9SREBF1, PLIN1, LPIN2, PPARG
5cellular lipid metabolic processGO:04425510.9LPIN2, LPIN1, AGPAT2, SREBF1
6phosphatidylcholine biosynthetic processGO:00665610.9LPIN2, LPIN1, LPIN3
7phospholipid metabolic processGO:00664410.9LPIN2, LPIN1, LPIN3, AGPAT2
8triglyceride biosynthetic processGO:01943210.9AGPAT2, LPIN1, LPIN2
9regulation of fatty acid metabolic processGO:01921710.8SREBF1, CAV1
10positive regulation of insulin receptor signaling pathwayGO:04662810.8INS, LEP
11negative regulation of acute inflammatory responseGO:00267410.8PPARG, INS
12negative regulation of gluconeogenesisGO:04572110.8INS, ADIPOQ
13glucose homeostasisGO:04259310.7ADIPOQ, INS, PPARG
14fatty acid catabolic processGO:00906210.7LPIN1, LEP
15mitotic nuclear envelope reassemblyGO:00708410.7EMD, LMNA
16positive regulation of cellular protein metabolic processGO:03227010.6ADIPOQ, INS
17negative regulation of macrophage derived foam cell differentiationGO:01074510.6ADIPOQ, PPARG
18lipid storageGO:01991510.5BSCL2, CAV1
19negative regulation of lipid catabolic processGO:05099510.5BSCL2, INS
20fatty acid oxidationGO:01939510.4PPARG, ADIPOQ
21glucose metabolic processGO:00600610.3ADIPOQ, LEP, INS

Molecular functions related to Lipodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:00517910.6ADIPOQ, LEP, INS, RETN
2phosphatidate phosphatase activityGO:00819510.3LPIN3, LPIN1, LPIN2

Products for genes affiliated with Lipodystrophy

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Sources for Lipodystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet