MCID: LPD010
MIFTS: 59

Lipodystrophy malady

Rare diseases, Skin diseases categories
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Summaries for Lipodystrophy

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43NIH Rare Diseases, 65Wikipedia, 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 berardinelli-seip congenital 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 Granzyme Pathway and Insulin Pathway. The compounds actos and hbig have been mentioned in the context of this disorder. Affiliated tissues include adipocyte, liver and bone, and related mouse phenotypes are digestive/alimentary and respiratory system.

Wikipedia:65 Lipodystrophy is a medical condition characterized by abnormal or degenerative conditions of the body\'s... more...

Aliases & Classifications for Lipodystrophy

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8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 62UMLS, 58SNOMED-CT, 27ICD9CM, 35MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases


Aliases & Descriptions:

lipodystrophy 8 43 10 45 62
lipodystrophy nos 8


External Ids:

Disease Ontology8 DOID:811
ICD9CM27 272.6
MeSH35 D008060

Related Diseases for Lipodystrophy

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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 261)
idRelated DiseaseScoreTop Affiliating Genes
1berardinelli-seip congenital lipodystrophy31.1BSCL2, AGPAT2
2familial partial lipodystrophy31.1PPARG, BSCL2, INS, LEP, LMNA, AGPAT2
3insulin resistance30.7AGPAT2, LPIN1, ADIPOQ, LMNA, PPARG, BSCL2
4acquired generalized lipodystrophy30.7LEP, ADIPOQ
5mandibuloacral dysplasia30.6LMNA
6congenital generalized lipodystrophy type 230.5PPARG, BSCL2, INS, LEP, LMNA, ADIPOQ
7diabetes mellitus30.3PPARG, BSCL2, INS, LEP, LMNA, ADIPOQ
8emery-dreifuss muscular dystrophy30.3LMNB2, LMNA
9obesity30.2PPARG, INS, LEP, LMNA, ADIPOQ, LPIN1
10obstructive sleep apnea30.1LEP, ADIPOQ
11atherosclerosis30.1CAV1, ADIPOQ, LMNA, LEP, INS, PPARG
12hypertension30.0PPARG, INS, LEP, CAV1
13fatty liver disease29.9PPARG, INS, LEP
14hypertriglyceridemia29.9PPARG, BSCL2, INS, LEP, ADIPOQ
15hypogonadism29.9ADIPOQ, LEP, INS
16acanthosis nigricans29.8AGPAT2, BSCL2, INS, LEP, LMNA, ADIPOQ
17type 2 diabetes mellitus29.8PPARG, INS, LEP, LMNA, ADIPOQ
18polycystic ovary syndrome29.7INS, LEP
19growth hormone deficiency29.6ADIPOQ, LEP, INS
20acromegaly29.6ADIPOQ, LEP, INS
21vascular disease29.6PPARG, INS, ADIPOQ, CAV1
22congenital generalized lipodystrophy10.8
23congenital generalized lipodystrophy type 410.5
24congenital generalized lipodystrophy type 110.4
25lipodystrophy, familial partial, type 210.4
26barraquer-simons syndrome10.4
27muscular dystrophy10.4
28centrifugal lipodystrophy10.4
29mandibuloacral dysplasia with type b lipodystrophy10.3
30familial partial lipodystrophy, kobberling type10.3
31lipoatrophic diabetes10.3
32autoinflammation, lipodystrophy, and dermatosis syndrome10.3
33hepatitis10.3
34short syndrome10.3
35hiv/aids10.3
36glomerulonephritis10.2
37chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature10.2
38familial partial lipodystrophy type 310.2
39congenital generalized lipodystrophy type 310.2
40familial partial lipodystrophy type 410.2
41lipodystrophy due to peptidic growth factors deficiency10.2
42dermatomyositis10.2
43mandibuloacral dysplasia with type a lipodystrophy10.2
44membranoproliferative glomerulonephritis10.2
45whipple disease10.2
46panniculitis10.2
47atypical lipodystrophy10.2
48hiv-110.2
49insulin resistance, severe, digenic10.2
50progeria10.1

Graphical network of the top 20 diseases related to Lipodystrophy:



Diseases related to lipodystrophy

Symptoms for Lipodystrophy

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Drugs & Therapeutics for Lipodystrophy

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Lipodystrophy

Search NIH Clinical Center for Lipodystrophy

Genetic Tests for Lipodystrophy

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Anatomical Context for Lipodystrophy

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33MalaCards
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MalaCards organs/tissues related to Lipodystrophy:

33
Adipocyte, Liver, Bone, Skin, Skeletal muscle, Brain, Heart, T cells, Monocytes, Endothelial, B cells, Testes, Ovary, Breast, Thyroid, Lung, Colon, Bone marrow

Animal Models for Lipodystrophy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Lipodystrophy:

37 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053817.9BSCL2, INS, LEP, LMNA, CAV1, AGPAT2
2MP:00053887.7LEP, PTRF, LMNA, LMNB2, ADIPOQ, CAV1
3MP:00036317.5INS, LEP, LMNA, LMNB2, LPIN1, CAV1
4MP:00053897.4PPARG, BSCL2, INS, LEP, LMNA, LMNB2
5MP:00053677.2PPARG, BSCL2, INS, LEP, LMNA, ADIPOQ
6MP:00053796.9PPARG, INS, LEP, LMNA, ADIPOQ, LPIN1
7MP:00053696.9PPARG, INS, LEP, LMNA, LMNB2, ADIPOQ
8MP:00053906.9PPARG, INS, LEP, LMNA, ADIPOQ, LPIN1
9MP:00053976.9PPARG, BSCL2, INS, LEP, LMNA, ADIPOQ
10MP:00053756.8AGPAT2, PPARG, BSCL2, INS, LEP, LMNA
11MP:00053706.8PPARG, BSCL2, INS, LEP, LMNA, ADIPOQ
12MP:00053876.7PPARG, BSCL2, INS, LEP, LMNA, LMNB2
13MP:00053856.6PPARG, BSCL2, INS, LEP, PTRF, LMNA
14MP:00053846.5PPARG, BSCL2, INS, LEP, PTRF, LMNA
15MP:00107716.5PPARG, BSCL2, INS, LEP, LMNA, LMNB2
16MP:00053866.4LEP, INS, BSCL2, PPARG, PTRF, LMNA
17MP:00053786.1PPARG, BSCL2, INS, LEP, PTRF, LMNA
18MP:00053766.1LEP, INS, BSCL2, PPARG, PTRF, LMNA
19MP:00107686.1PPARG, BSCL2, INS, LEP, PTRF, LMNA

Publications for Lipodystrophy

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52PubMed
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Articles related to Lipodystrophy:

(show top 50)    (show all 792)
idTitleAuthorsYear
1
Liposuction for lower limb lipodystrophy in congenital analbuminaemia: A case report. (24090727)
2013
2
Antiretroviral lipodystrophy of the forehead. (23807529)
2013
3
Psychopathology and psychosocial adjustment in patients with HIV-associated lipodystrophy. (23742804)
2013
4
Labia majora labioplasty in HIV-related vaginal lipodystrophy: technique description and literature review. (23771244)
2013
5
Social isolation in HIV-infected patients according to subjective patient assessment and DEXA-confirmed severity of lipodystrophy. (23650893)
2013
6
Two cases of mesenteric lipodystrophy. (23896232)
2013
7
Thiazolidinedione response in familial lipodystrophy patients with LMNA mutations: a case series. (22274718)
2012
8
Prevalence of highly active antiretroviral therapy associated metabolic abnormalities and lipodystrophy in HIV infected patients. (23409405)
2012
9
Leptin activates hepatic 5'-AMP-activated protein kinase through sympathetic nervous system and I+1-adrenergic receptor: a potential mechanism for improvement of fatty liver in lipodystrophy by leptin. (23024365)
2012
10
Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations. (22700598)
2012
11
Regional decrease of subcutaneous adipose tissue in patients with type 2 familial partial lipodystrophy is associated with changes in thyroid hormone metabolism. (20373986)
2010
12
A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features. (21031082)
2010
13
HIV type-1 transgene expression in mice alters adipose tissue and adipokine levels: towards a rodent model of HIV type-1 lipodystrophy. (21041917)
2010
14
Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL). (19167372)
2009
15
Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy. (19793595)
2009
16
Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations. (19438831)
2009
17
Incidence of lipodystrophy and metabolic disorders in patients starting non-nucleoside reverse transcriptase inhibitors in Benin. (19474471)
2009
18
Lipodystrophy and weight changes: data from the Swiss HIV Cohort Study, 2000-2006. (18218001)
2008
19
Energy balance in congenital generalized lipodystrophy type I. (18640396)
2008
20
Congenital partial lipodystrophy: a new variety with previously undescribed clinical features. (18049084)
2008
21
Angiolipomas, a rare manifestation of HIV-associated lipodystrophy. (18301079)
2008
22
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. (18796515)
2008
23
Lipodystrophy and metabolic abnormalities in a case of adult dermatomyositis. (17938031)
2007
24
Centrifugal lipodystrophy mimicking 'lipodystrophia centrifugalis abdominalis infantilis' in a Caucasian adult. (17894715)
2007
25
Mouse Models of Lipodystrophy Key reagents for the understanding of the metabolic syndrome. (18193096)
2007
26
TH9507: an experimental treatment for lipodystrophy. (18069152)
2007
27
A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2. (16636128)
2006
28
Adipose tissue dysfunction in obesity and lipodystrophy. (17208666)
2006
29
Diabetes with partial lipodystrophy following sclerodermatous chronic graft vs. host disease. (16620274)
2006
30
Comparison of rosiglitazone and metformin for treating HIV lipodystrophy: a randomized trial. (16144892)
2005
31
Rosiglitazone in the treatment of HAART-associated lipodystrophy--a randomized double-blind placebo-controlled study. (12924536)
2003
32
Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. (14602785)
2003
33
Juvenile dermatomyositis associated with lipodystrophy. (17642934)
2003
34
Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation. (12669268)
2003
35
The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy. (12057196)
2002
36
TNF-alpha promoter region gene polymorphisms in HIV-positive patients with lipodystrophy. (12370499)
2002
37
Effect of subcutaneous leptin replacement therapy on bone metabolism in patients with generalized lipodystrophy. (12414854)
2002
38
Syndrome of lipodystrophy, hyperlipidemia, insulin resistance, and diabetes in treated patients with human immunodeficiency virus infection. (11747278)
2001
39
Partial lipodystrophy and rapidly progressive nephritis. (18209372)
2001
40
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. (11479539)
2001
41
Pushing the envelope on lipodystrophy. (10655047)
2000
42
Metformin in the treatment of HIV lipodystrophy syndrome: A randomized controlled trial. (10904511)
2000
43
Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy. (9784493)
1998
44
Limited joint mobility and lipodystrophy in children and adolescents with insulin-dependent diabetes mellitus. (7899179)
1994
45
Discordant metabolic actions of insulin in extreme lipodystrophy of childhood. (8077317)
1993
46
Congenital generalized lipodystrophy associated with multiple sclerosis. (1592577)
1992
47
The efficacy of using single-component insulin preparations in diabetes mellitus and generalized lipodystrophy]. (2194203)
1990
48
Generalised lipodystrophy. (2392709)
1990
49
Congenital lipodystrophy and polycystic ovarian disease. (7230151)
1981
50
Studies in congenital generalized lipodystrophy. IV. Effect of muscular exercise on carbohydrate and fat metabolism including plasma levels of IRI and HGH. (1036653)
1976

Variations for Lipodystrophy

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Expression for genes affiliated with Lipodystrophy

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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50PathCards, 53QIAGEN, 61Tocris Bioscience, 38NCBI BioSystems Database, 5Cell Signaling Technology, 55Reactome, 30KEGG, 12EMD Millipore, 54R&D Systems, 60Thomson Reuters
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Pathways related to Lipodystrophy according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9LMNB2, LMNA
2
Show member pathways
Insulin Pathway38
9.7CAV1, INS
39.6CAV1, LMNB2, LMNA
49.0INS, LEP, CAV1
5
Show member pathways
9.0LPIN1, INS, PPARG
6
Show member pathways
9.0LPIN1, LPIN3, LPIN2, AGPAT2
7
Show member pathways
9.0AGPAT2, LPIN2, LPIN3, LPIN1
8
Show member pathways
9.0LPIN1, LPIN3, LPIN2, AGPAT2
98.9INS, LEP, LPIN1
10
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
8.5INS, LEP, ADIPOQ
118.2LPIN1, ADIPOQ, INS, PPARG
12
Show member pathways
8.0PPARG, INS, LEP, ADIPOQ
13
Show member pathways
8.0ADIPOQ, LEP, INS, PPARG
14
Show member pathways
7.6AGPAT2, CAV1, LPIN2, LPIN3, LPIN1, INS
15
Show member pathways
7.0PPARG, LEP, ADIPOQ, LPIN1, LPIN3, LPIN2
165.9AGPAT2, PPARG, BSCL2, INS, LEP, LMNA

Compounds for genes affiliated with Lipodystrophy

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45Novoseek, 11DrugBank, 51PharmGKB, 29IUPHAR, 24HMDB, 61Tocris Bioscience
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Compounds related to Lipodystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 93)
idCompoundScoreTop Affiliating Genes
1actos459.8INS, PPARG
2hbig459.8PPARG, INS
3mitiglinide45 1110.7PPARG, INS
4exenatide45 1110.5INS, LEP
5glimepiride45 51 1111.0PPARG, INS, ADIPOQ
6niacin45 1110.0ADIPOQ, INS, PPARG
7bezafibrate45 29 1111.0ADIPOQ, PPARG, INS
8ritonavir45 51 1111.0ADIPOQ, INS, PPARG
9sibutramine45 119.9INS, LEP, ADIPOQ
10stavudine45 119.9ADIPOQ, LEP, PPARG
11acipimox45 299.9INS, LEP, ADIPOQ
12nash458.9LEP, INS, ADIPOQ
132-deoxyglucose45 119.9INS, ADIPOQ, PPARG
148-isoprostane458.9INS, ADIPOQ, LEP
15dehydroepiandrosterone sulfate458.9ADIPOQ, LEP, INS
16glycerol 3-phosphate45 249.8ADIPOQ, LEP, PPARG
17glibenclamide45 29 51 6111.8INS, LEP, ADIPOQ
18c-peptide458.8INS, ADIPOQ, LEP
19olanzapine45 51 29 24 1112.8LEP, INS, ADIPOQ
20dhea458.8INS, LEP, ADIPOQ
21palmitate458.7PPARG, INS, CAV1, ADIPOQ
22losartan45 51 29 1111.7PPARG, LEP, ADIPOQ
23triacylglycerol458.7AGPAT2, INS, ADIPOQ, LEP
24androstenedione45 249.6ADIPOQ, LEP, INS
25prostacyclin458.6CAV1, ADIPOQ, LEP, PPARG
26uric acid45 249.5LEP, INS, ADIPOQ
27telmisartan45 29 1110.4PPARG, LEP, INS, ADIPOQ
28orlistat45 61 1110.4ADIPOQ, LEP, INS, PPARG
29thiazolidinedione458.4ADIPOQ, LEP, INS, PPARG
30aicar45 24 1110.4ADIPOQ, PPARG, INS, LEP
31fenofibrate45 51 1110.4PPARG, INS, LEP, ADIPOQ
32metformin45 51 1110.4INS, PPARG, ADIPOQ, LEP
33pioglitazone29 45 51 1111.4PPARG, ADIPOQ, LEP, INS
34troglitazone45 29 61 1111.4PPARG, INS, LEP, ADIPOQ
35thyroxine45 249.4ADIPOQ, LEP, PPARG, INS
36glycerol45 24 1110.4ADIPOQ, LEP, INS, PPARG
37wortmannin458.3CAV1, ADIPOQ, LEP, INS
38pravastatin45 51 29 24 1112.2LEP, ADIPOQ, PPARG
39rapamycin458.2LEP, INS, PPARG, ADIPOQ
40arginine458.1LEP, LMNA, ADIPOQ, CAV1, INS
41ly294002458.1CAV1, PPARG, ADIPOQ, INS, LEP
42fatty acid458.1ADIPOQ, PPARG, INS, LEP, CAV1
43testosterone45 61 24 1111.0CAV1, INS, LEP, ADIPOQ, PPARG
44dexamethasone45 51 29 1110.9INS, LEP, ADIPOQ, CAV1, PPARG
45alanine457.9PPARG, INS, LMNA, ADIPOQ, CAV1
46cholesterol45 29 24 1110.8ADIPOQ, PPARG, INS, LEP, LMNA, CAV1
47serine457.6CAV1, INS, LEP, LMNA, LMNB2, ADIPOQ
48rosiglitazone29 45 51 24 1111.4LEP, ADIPOQ, LMNA, CAV1, LPIN1, INS
49glucose457.4LEP, LMNA, ADIPOQ, LPIN1, INS, PPARG
50lipid457.2AGPAT2, CAV1, LPIN1, PPARG, LMNA, ADIPOQ

GO Terms for genes affiliated with Lipodystrophy

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16Gene Ontology
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Cellular components related to Lipodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057899.0AGPAT2, LPIN2, LPIN3, LPIN1
2endoplasmic reticulumGO:0057838.4AGPAT2, CAV1, ADIPOQ, PTRF

Biological processes related to Lipodystrophy according to GeneCards/GeneDecks:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1lipid storageGO:01991510.1BSCL2, CAV1
2negative regulation of lipid catabolic processGO:0509959.9INS, BSCL2
3fatty acid catabolic processGO:0090629.8LPIN1, LEP
4negative regulation of acute inflammatory responseGO:0026749.8INS, PPARG
5positive regulation of cytokine productionGO:0018199.7AGPAT2, LEP
6triglyceride biosynthetic processGO:0194329.7LPIN1, LPIN2, AGPAT2
7positive regulation of insulin receptor signaling pathwayGO:0466289.6INS, LEP
8phosphatidylethanolamine biosynthetic processGO:0066469.6LPIN2, LPIN3, LPIN1
9phosphatidylcholine biosynthetic processGO:0066569.6LPIN1, LPIN3, LPIN2
10cellular lipid metabolic processGO:0442559.6AGPAT2, LPIN2, LPIN1
11membrane depolarizationGO:0518999.5CAV1, ADIPOQ
12negative regulation of gluconeogenesisGO:0457219.4INS, ADIPOQ
13positive regulation of cellular protein metabolic processGO:0322709.4ADIPOQ, INS
14fatty acid oxidationGO:0193959.4PPARG, ADIPOQ
15negative regulation of macrophage derived foam cell differentiationGO:0107459.4PPARG, ADIPOQ
16glycerophospholipid biosynthetic processGO:0464749.3AGPAT2, LPIN2, LPIN3, LPIN1
17phospholipid metabolic processGO:0066449.3AGPAT2, LPIN2, LPIN3, LPIN1
18positive regulation of glucose importGO:0463269.2INS, ADIPOQ
19negative regulation of smooth muscle cell proliferationGO:0486629.1ADIPOQ, PPARG
20circadian rhythmGO:0076239.0ADIPOQ, LEP
21placenta developmentGO:0018909.0LEP, PPARG
22brown fat cell differentiationGO:0508739.0ADIPOQ, PPARG
23glucose homeostasisGO:0425938.9PPARG, INS, ADIPOQ
24response to hypoxiaGO:0016668.9CAV1, ADIPOQ, LEP
25glucose metabolic processGO:0060068.8ADIPOQ, LEP, INS
26small molecule metabolic processGO:0442818.5AGPAT2, CAV1, LPIN2, LPIN3, LPIN1, INS

Molecular functions related to Lipodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.6CAV1, LMNB2, LMNA
2phosphatidate phosphatase activityGO:0081959.1LPIN2, LPIN3, LPIN1
3hormone activityGO:0051798.2ADIPOQ, LEP, INS

Products for genes affiliated with Lipodystrophy

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  • Antibodies
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Sources for Lipodystrophy

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet