MCID: LPD010
MIFTS: 59

Lipodystrophy malady

Summaries for Lipodystrophy

About this section
Sources:
42NIH Rare Diseases, 63Wikipedia, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 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. Affiliated tissues include adipocyte, liver and bone, and related mouse phenotypes are homeostasis/metabolism and liver/biliary system.

Wikipedia:63 Lipodystrophy is a medical condition characterized by abnormal or degenerative conditions of the body\'s... more...

Aliases & Classifications for Lipodystrophy

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 27ICD9CM, 34MeSH
See all sources

Aliases & Descriptions:

lipodystrophy 8 42 10 44 60
lipodystrophy nos 8


External Ids:

Disease Ontology8 DOID:811
ICD9CM27 272.6
MeSH34 D008060

Related Diseases for Lipodystrophy

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 273)
idRelated DiseaseScoreTop Affiliating Genes
1familial partial lipodystrophy31.1PPARG, BSCL2, AGPAT2, EMD, INS, LEP
2berardinelli-seip congenital lipodystrophy30.9AGPAT2, BSCL2
3congenital generalized lipodystrophy type 230.6PPARG, BSCL2, ZMPSTE24, AGPAT2, INS, LEP
4diabetes mellitus30.5LSL, PPARG, BSCL2, RETN, INS, LEP
5muscular dystrophy30.5LMNA, EMD, CAV1
6obesity30.4LPIN1, PPARG, LSL, CAV1, RETN, INS
7hepatitis30.4CAV1
8atherosclerosis30.2CAV1, LSL, PPARG, RETN, INS, LEP
9acquired generalized lipodystrophy30.2ADIPOQ, LEP, RETN
10progeria30.1LMNA, EMD, ZMPSTE24
11neuropathy30.1EMD, INS, LMNA
12emery-dreifuss muscular dystrophy30.1EMD, LMNA
13hypertension30.0LEP, INS, RETN, PPARG, CAV1
14mandibuloacral dysplasia30.0ZMPSTE24, LMNA
15acanthosis nigricans29.9BSCL2, AGPAT2, INS, LEP, LMNA, ADIPOQ
16fatty liver disease29.9LSL, PPARG, RETN, INS, LEP, SREBF1
17type 2 diabetes mellitus29.9LSL, PPARG, RETN, INS, LEP, LMNA
18hypogonadism29.9LSL, INS, LEP, ADIPOQ
19cushing's syndrome29.9LSL, RETN, LEP, ADIPOQ
20myopathy29.9EMD, INS, LMNA
21multiple sclerosis29.9PPARG, LSL
22dilated cardiomyopathy29.9LMNA, EMD
23werner syndrome29.9LMNA
24polycystic ovary syndrome29.6LSL, PPARG, RETN, INS, LEP, LMNA
25familial hyperlipidemia29.6LSL, PPARG, RETN, INS, LEP, SREBF1
26acromegaly29.6LSL, RETN, INS, LEP, ADIPOQ
27vascular disease29.6CAV1, PPARG, RETN, INS, ADIPOQ
28proteinuria29.6ADIPOQ, INS, LSL
29myocardial infarction29.6LSL, RETN, ADIPOQ
30majeed syndrome29.6LPIN2
31pre-eclampsia29.6ADIPOQ, LEP, RETN, LSL
32leukemia29.6CAV1
33pancreatitis29.6INS
34acute pancreatitis29.6RETN
35tuberculosis29.6LSL
36congenital generalized lipodystrophy10.8
37congenital generalized lipodystrophy type 410.4
38lipodystrophy, familial partial, type 210.4
39congenital generalized lipodystrophy type 110.4
40barraquer-simons syndrome10.3
41mandibuloacral dysplasia with type b lipodystrophy10.3
42familial partial lipodystrophy, kobberling type10.3
43lipoatrophic diabetes10.3
44autoinflammation, lipodystrophy, and dermatosis syndrome10.3
45glomerulonephritis10.2
46short syndrome10.2
47familial partial lipodystrophy type 410.2
48lipodystrophy due to peptidic growth factors deficiency10.2
49dermatomyositis10.2
50mandibuloacral dysplasia with type a lipodystrophy10.2

Graphical network of the top 20 diseases related to Lipodystrophy:



Diseases related to lipodystrophy

Clinical Features for Lipodystrophy

About this section

Drugs & Therapeutics for Lipodystrophy

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

About this section

Anatomical Context for Lipodystrophy

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Lipodystrophy:

32
Adipocyte, Liver, Bone, Skeletal muscle, Brain, Monocytes, T cells, Endothelial, Heart, B cells, Testes, Ovary, Skin, Breast, Thyroid, Lung, Colon, Bone marrow

Animal Models for Lipodystrophy or affiliated genes

About this section
Sources:
36MGI
See all sources

Publications for Lipodystrophy

About this section
Sources:
50PubMed
See all sources

Articles related to Lipodystrophy:

(show top 50)    (show all 805)
idTitleAuthorsYear
1
HIV Lipodystrophy in Participants Randomised to Lopinavir/Ritonavir (LPV/r) +2-3 Nucleoside/Nucleotide Reverse Transcriptase Inhibitors (N(t)RTI) or LPV/r + Raltegravir as Second-Line Antiretroviral Therapy. (24204757)
2013
2
Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood. (23489663)
2013
3
Pathology of congenital generalized lipodystrophy in Agpat2-/- mice. (21051554)
2011
4
Successful treatment for the Dunnigan-type familial partial lipodystrophy with Roux-en-Y gastric bypass. (21521325)
2011
5
Lipodystrophy in HIV patients: its challenges and management approaches. (22267946)
2011
6
Suppression of the C/EBP family of transcription factors in adipose tissue causes lipodystrophy. (21321096)
2011
7
Visual vignette. Type 2 familial partial lipodystrophy syndrome of the Dunnigan variety. (21454231)
2011
8
Acquired generalized lipodystrophy associated with autoimmune hepatitis and low serum C4 level. (21274335)
2010
9
Potential role of IL-18 in the immunopathogenesis of AIDS, HIV-associated lipodystrophy and related clinical conditions. (19954415)
2010
10
HIV-associated lipodystrophy: from fat injury to premature aging. (20400373)
2010
11
Association between HLA-B*4001 and lipodystrophy among HIV-infected patients from Thailand who received a stavudine-containing antiretroviral regimen. (20073992)
2010
12
Benign mesenteric lipodystrophy presenting as low abdominal pain: a case report. (20423496)
2010
13
PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis- induced lipodystrophy syndrome. (21129723)
2010
14
Lipodystrophy: metabolic insights from a rare disorder. (20870709)
2010
15
Early course of Berardinelli-Seip congenital lipodystrophy (BSCL). (20301053)
2010
16
The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. (19201734)
2009
17
Acquired acral lipodystrophy in a 6-year-old girl. (19840312)
2009
18
Depot-specific adipocyte cell lines reveal differential drug-induced responses of white adipocytes--relevance for partial lipodystrophy. (19033543)
2009
19
Giant fibrolipoma mimicking abdominal lipodystrophy. (19753217)
2008
20
Long-term effect on body composition and metabolic parameters after treatment with recombinant human growth hormone (r-hGH) in HIV-1 infected patients with lipodystrophy. (17852925)
2008
21
Lipodystrophy in patients with acromegaly receiving pegvisomant. (18611977)
2008
22
Differential gene expression indicates that 'buffalo hump' is a distinct adipose tissue disturbance in HIV-1-associated lipodystrophy. (18316998)
2008
23
Approach to the human immunodeficiency virus-infected patient with lipodystrophy. (18685115)
2008
24
Power-assisted liposuction treatment of cervicodorsal fat pad in human immunodeficiency virus-associated lipodystrophy. (18317102)
2008
25
Obesity and lipodystrophy--where do the circles intersect? (18202137)
2008
26
Optimal design of clinical trials with computer simulation based on results of earlier trials, illustrated with a lipodystrophy trial in HIV patients. (18534916)
2008
27
Treatment of altered body composition in HIV-associated lipodystrophy: comparison of rosiglitazone, pravastatin, and recombinant human growth hormone. (18753120)
2008
28
Acquired partial lipodystrophy in an 11-year-old girl. (19261130)
2008
29
Effect of pioglitazone on HIV-1-related lipodystrophy: a randomized double-blind placebo-controlled trial (ANRS 113). (18389900)
2008
30
Lipodystrophy and metabolic abnormalities in a case of adult dermatomyositis. (17938031)
2007
31
Pathogenesis of lipodystrophy and lipid abnormalities in patients taking antiretroviral therapy. (17474309)
2007
32
The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. (18093937)
2007
33
Surgical management of HIV-associated lipodystrophy: role of ultrasonic-assisted liposuction and suction-assisted lipectomy in the treatment of lipohypertrophy. (17471128)
2007
34
Lipodystrophy reactions to insulin: effects of continuous insulin infusion and new insulin analogs. (17298103)
2007
35
Lipodystrophy and metabolic changes in HIV-infected children on non-nucleoside reverse transcriptase inhibitor-based antiretroviral therapy. (18240864)
2007
36
Effectiveness of gastric bypass surgery in a patient with familial partial lipodystrophy. (16732025)
2006
37
Multidisciplinary approach to the treatment of metabolic and morphologic alterations of HIV-related lipodystrophy. (16880166)
2006
38
Complications & side effects. Lipodystrophy: yesterday, today and tomorrow. (17219683)
2004
39
Effects of rosiglitazone on gene expression in subcutaneous adipose tissue in highly active antiretroviral therapy-associated lipodystrophy. (14749206)
2004
40
Alanine aminotransferase levels predict insulin resistance in HIV lipodystrophy. (14657767)
2003
41
A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. (11788685)
2002
42
Altered myocellular and abdominal fat partitioning predict disturbance in insulin action in HIV protease inhibitor-related lipodystrophy. (12401706)
2002
43
The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin. (11313760)
2001
44
Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22. (9500556)
1998
45
Hyperinsulinemia and severity of cardiovascular disorders in generalized lipodystrophy syndrome]. (7474822)
1995
46
Congenital generalized lipodystrophy associated with multiple sclerosis. (1592577)
1992
47
Case report 417: Lipoatrophic diabetes mellitus (generalized lipodystrophy). (3616671)
1987
48
Fat cell size and lipid content of subcutaneous tissue in congenital generalized lipodystrophy. (580534)
1978
49
Studies in congenital generalized lipodystrophy. IV. Effect of muscular exercise on carbohydrate and fat metabolism including plasma levels of IRI and HGH. (1036653)
1976
50
Congenital generalized lipodystrophy. Report on one case, with special reference to postmortem findings. (1251733)
1976

Genetic Variations for Lipodystrophy

About this section

Expression for genes affiliated with Lipodystrophy

About this section
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

About this section
Sources:
37NCBI BioSystems Database, 4Cell Signaling Technology, 53Reactome, 29KEGG, 12EMD Millipore, 52R&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

About this section
Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience
See all sources

Compounds related to Lipodystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 79)
idCompoundScoreTop Affiliating Genes
1lipid4411.3PPARG, SREBF1, LMNA, CAV1, ADIPOQ, LPIN1
2cholesterol44 28 11 2414.2LSL, CAV1, ADIPOQ, LMNA, PLIN1, LEP
3glucose4411.2LMNA, ADIPOQ, LSL, SREBF1, PLIN1, LEP
4rosiglitazone44 49 28 11 2415.2ADIPOQ, LEP, LPIN1, CAV1, LSL, PPARG
5triacylglycerol4411.1INS, AGPAT2, LSL, ADIPOQ, SREBF1, PLIN1
6metformin44 49 1113.1LEP, LSL, PPARG, RETN, INS, ADIPOQ
7testosterone44 59 11 2414.1PPARG, RETN, SREBF1, LEP, INS, CAV1
8ly2940024411.1RETN, PPARG, SREBF1, ADIPOQ, CAV1, LEP
9thyroxine44 2412.1ADIPOQ, LEP, RETN, INS, PPARG, LSL
10nash4411.1LSL, ADIPOQ, RETN, LEP, INS
11sterol4411.0EMD, RETN, SREBF1, PPARG, CAV1, ADIPOQ
12orlistat44 59 1113.0LSL, ADIPOQ, LEP, INS, PPARG
13thiazolidinedione4411.0ADIPOQ, RETN, INS, PPARG, LEP
14glycerol 3-phosphate44 2412.0PLIN1, SREBF1, PPARG, ADIPOQ, LEP
15fenofibrate44 49 1113.0ADIPOQ, PPARG, RETN, INS, LEP
16fatty acid4411.0PPARG, PLIN1, LSL, CAV1
17glycerol44 11 2413.0PLIN1, LEP, INS, ADIPOQ, PPARG, LSL
18c-peptide4411.0RETN, ADIPOQ, LEP, LSL, INS
19sibutramine44 1112.0ADIPOQ, LSL, INS, LEP
20serine4411.0ZMPSTE24, INS, LEP, PLIN1, LMNB2, SREBF1
21dhea4411.0INS, ADIPOQ, LSL, RETN, LEP
22acipimox44 2812.0INS, LEP, LSL, ADIPOQ
23pioglitazone44 49 28 1114.0ADIPOQ, PPARG, RETN, INS, LEP
24glimepiride44 49 1113.0INS, RETN, PPARG, ADIPOQ
25telmisartan44 28 1113.0LEP, INS, ADIPOQ, PPARG
26troglitazone44 28 59 1114.0LSL, PPARG, INS, LEP, ADIPOQ
27dexamethasone44 49 28 1114.0LSL, LEP, PPARG, RETN, CAV1, INS
288-isoprostane4411.0ADIPOQ, LEP, INS, RETN
29aicar44 11 2413.0PPARG, INS, ADIPOQ, LEP
30ritonavir44 49 1112.9SREBF1, PPARG, INS, ADIPOQ
31arginine4410.9SREBF1, LMNA, ADIPOQ, LEP, INS, LSL
32olanzapine49 44 28 11 2414.9LEP, INS, LSL, ADIPOQ
33phosphatidylinositol4410.9LSL, RETN, INS, CAV1, ADIPOQ, SREBF1
34stavudine44 1111.9PPARG, LEP, ADIPOQ
35norepinephrine44 11 2412.9RETN, PLIN1
36beta-hydroxybutyrate4410.9LEP, INS, LSL
37pravastatin44 49 28 11 2414.9ADIPOQ, LEP, PPARG, LSL
38amprenavir44 1111.9PPARG, ADIPOQ, SREBF1
39androstenedione44 2411.9ADIPOQ, LEP, INS, LSL
40alanine4410.9LMNA, CAV1, LSL, PPARG, RETN, ADIPOQ
41creatinine4410.8LEP, LMNA, LSL, RETN, ADIPOQ, INS
42dehydroepiandrosterone sulfate4410.8LSL
43intralipid4410.8LEP, INS, LSL
44linoleic acid44 28 2412.7LSL, ADIPOQ, PPARG, SREBF1
45p0034410.6RETN, LSL
46actos4410.6PPARG, INS
47p0024410.6LEP, RETN, LSL, ADIPOQ
48nelfinavir44 49 1112.6SREBF1, LMNA, ADIPOQ
49palmitate4410.5CAV1, INS, ADIPOQ
50atorvastatin44 49 28 11 2414.3ADIPOQ, SREBF1, RETN, PPARG

GO Terms for genes affiliated with Lipodystrophy

About this section
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lipodystrophy

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet