MCID: LPD010
MIFTS: 49

Lipodystrophy malady

Rare diseases category

Summaries for Lipodystrophy

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NIH Rare Diseases:41 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 based summary: Lipodystrophy is related to mandibuloacral dysplasia and acquired generalized 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:63 Lipodystrophy is a medical condition characterized by abnormal or degenerative conditions of the body\'s... more...

Aliases & Classifications for Lipodystrophy

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Lipodystrophy, Aliases & Descriptions:

Name: Lipodystrophy 9 41 11 43 60


Classifications:

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


External Ids:

Disease Ontology9 DOID:811
ICD9CM27 272.6
MeSH33 D008060

Related Diseases for Lipodystrophy

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

(show top 50)    (show all 252)
idRelated DiseaseScoreTop Affiliating Genes
1mandibuloacral dysplasia31.4LMNA
2acquired generalized lipodystrophy30.7LEP, ADIPOQ
3emery-dreifuss muscular dystrophy30.7LMNB2, LMNA
4familial partial lipodystrophy30.7PPARG, BSCL2, INS, LEP, LMNA, AGPAT2
5liver disease30.4INS, LEP
6obstructive sleep apnea30.1LEP, ADIPOQ
7berardinelli-seip congenital lipodystrophy29.9PPARG, BSCL2, INS, LEP, LMNA, ADIPOQ
8fatty liver disease29.8PPARG, INS, LEP
9polycystic ovary syndrome29.6INS, LEP
10growth hormone deficiency29.4ADIPOQ, LEP, INS
11acromegaly29.4ADIPOQ, LEP, INS
12hypogonadism29.4ADIPOQ, LEP, INS
13atherosclerosis29.3CAV1, ADIPOQ, LMNA, LEP, INS, PPARG
14hypertriglyceridemia29.3PPARG, BSCL2, INS, LEP, ADIPOQ
15vascular disease29.3PPARG, INS, ADIPOQ, CAV1
16obesity29.2PPARG, INS, LEP, LMNA, ADIPOQ, LPIN1
17acanthosis nigricans29.2AGPAT2, BSCL2, INS, LEP, LMNA, ADIPOQ
18congenital generalized lipodystrophy10.8
19lipodystrophy, congenital generalized, type 210.6
20lipodystrophy, congenital generalized, type 410.6
21lipodystrophy, familial partial, 210.5
22lipodystrophy, congenital generalized, type 110.5
23distal hereditary motor neuropathy10.5AGPAT2
24lipodystrophy, partial, acquired10.5
25autoinflammation, lipodystrophy, and dermatosis syndrome10.5
26mandibuloacral dysplasia with type b lipodystrophy10.4
27rabson-mendenhall syndrome10.4INS
28muscular dystrophy10.4
29lipodystrophy, familial partial, type 310.4
30pelger-huet anomaly10.3LMNB2, LMNA
31short syndrome10.3
32hepatitis10.3
33familial partial lipodystrophy, kobberling type10.3
34lipodystrophy, congenital generalized, type 310.3
35lipodystrophy, familial partial, type 410.3
36centrifugal lipodystrophy10.3
37hiv-110.3
38glomerulonephritis10.3
39dermatomyositis10.3
40lipodystrophy due to peptidic growth factors deficiency10.3
41atypical lipodystrophy10.2
42lipodystrophy, familial partial, type 510.2
43encephalopathy, progressive, with or without lipodystrophy10.2
44mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome10.2
45membranoproliferative glomerulonephritis10.2
46whipple disease10.2
47jmp syndrome10.2
48panniculitis10.2
49familial partial lipodystrophy due to akt2 mutations10.2
50partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome10.1

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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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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MalaCards organs/tissues related to Lipodystrophy:

31
Adipocyte, Liver, Bone, Skeletal muscle, Brain, Neutrophil, Heart, Monocytes, T cells, Endothelial, Bone marrow, Colon, Lung, Thyroid, Breast, Skin, Ovary, Testes, B cells

Animal Models for Lipodystrophy or affiliated genes

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MGI Mouse Phenotypes related to Lipodystrophy:

35 (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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Articles related to Lipodystrophy:

(show top 50)    (show all 843)
idTitleAuthorsYear
1
Erratum: Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation. (25774228)
2015
2
Liposuction for lower limb lipodystrophy in congenital analbuminaemia: A case report. (24090727)
2013
3
Antiretroviral lipodystrophy of the forehead. (23807529)
2013
4
Psychopathology and psychosocial adjustment in patients with HIV-associated lipodystrophy. (23742804)
2013
5
Labia majora labioplasty in HIV-related vaginal lipodystrophy: technique description and literature review. (23771244)
2013
6
Social isolation in HIV-infected patients according to subjective patient assessment and DEXA-confirmed severity of lipodystrophy. (23650893)
2013
7
Two cases of mesenteric lipodystrophy. (23896232)
2013
8
Thiazolidinedione response in familial lipodystrophy patients with LMNA mutations: a case series. (22274718)
2012
9
Prevalence of highly active antiretroviral therapy associated metabolic abnormalities and lipodystrophy in HIV infected patients. (23409405)
2012
10
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
11
Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations. (22700598)
2012
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
A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features. (21031082)
2010
14
HIV type-1 transgene expression in mice alters adipose tissue and adipokine levels: towards a rodent model of HIV type-1 lipodystrophy. (21041917)
2010
15
Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL). (19167372)
2009
16
Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy. (19793595)
2009
17
Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations. (19438831)
2009
18
Incidence of lipodystrophy and metabolic disorders in patients starting non-nucleoside reverse transcriptase inhibitors in Benin. (19474471)
2009
19
Lipodystrophy and weight changes: data from the Swiss HIV Cohort Study, 2000-2006. (18218001)
2008
20
Energy balance in congenital generalized lipodystrophy type I. (18640396)
2008
21
Congenital partial lipodystrophy: a new variety with previously undescribed clinical features. (18049084)
2008
22
Angiolipomas, a rare manifestation of HIV-associated lipodystrophy. (18301079)
2008
23
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. (18796515)
2008
24
Lipodystrophy and metabolic abnormalities in a case of adult dermatomyositis. (17938031)
2007
25
Centrifugal lipodystrophy mimicking 'lipodystrophia centrifugalis abdominalis infantilis' in a Caucasian adult. (17894715)
2007
26
Mouse Models of Lipodystrophy Key reagents for the understanding of the metabolic syndrome. (18193096)
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
Partial lipodystrophy and rapidly progressive nephritis. (18209372)
2001
39
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. (11479539)
2001
40
Pushing the envelope on lipodystrophy. (10655047)
2000
41
Metformin in the treatment of HIV lipodystrophy syndrome: A randomized controlled trial. (10904511)
2000
42
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
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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Search GEO for disease gene expression data for Lipodystrophy.

Pathways for genes affiliated with Lipodystrophy

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Pathways related to Lipodystrophy according to GeneCards Suite gene sharing:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9LMNB2, LMNA
2
Show member pathways
Insulin Pathway36
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
9
Show member pathways
IL-9 Signaling Pathway36
Development Thrombopoietin regulated cell processes58
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway58
8.5INS, LEP, ADIPOQ
108.2LPIN1, ADIPOQ, INS, PPARG
11
Show member pathways
8.0PPARG, INS, LEP, ADIPOQ
12
Show member pathways
8.0ADIPOQ, LEP, INS, PPARG
13
Show member pathways
7.6AGPAT2, CAV1, LPIN2, LPIN3, LPIN1, INS
14
Show member pathways
7.0PPARG, LEP, ADIPOQ, LPIN1, LPIN3, LPIN2
155.9AGPAT2, PPARG, BSCL2, INS, LEP, LMNA

Compounds for genes affiliated with Lipodystrophy

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Compounds related to Lipodystrophy according to GeneCards Suite gene sharing:

(show top 50)    (show all 93)
idCompoundScoreTop Affiliating Genes
1actos439.8INS, PPARG
2hbig439.8INS, PPARG
3mitiglinide43 1210.7INS, PPARG
4exenatide43 1210.5INS, LEP
5glimepiride43 49 1211.0PPARG, INS, ADIPOQ
6niacin43 1210.0PPARG, INS, ADIPOQ
7bezafibrate43 28 1211.0ADIPOQ, INS, PPARG
8ritonavir43 49 1211.0PPARG, INS, ADIPOQ
9sibutramine43 129.9INS, LEP, ADIPOQ
10stavudine43 129.9PPARG, LEP, ADIPOQ
11acipimox43 289.9ADIPOQ, LEP, INS
12nash438.9INS, LEP, ADIPOQ
132-deoxyglucose43 129.9PPARG, INS, ADIPOQ
148-isoprostane438.9ADIPOQ, LEP, INS
15dehydroepiandrosterone sulfate438.9ADIPOQ, LEP, INS
16glycerol 3-phosphate43 249.8PPARG, LEP, ADIPOQ
17glibenclamide43 28 49 5911.8ADIPOQ, LEP, INS
18c-peptide438.8INS, LEP, ADIPOQ
19olanzapine43 49 28 24 1212.8ADIPOQ, LEP, INS
20dhea438.8ADIPOQ, LEP, INS
21palmitate438.7PPARG, INS, ADIPOQ, CAV1
22losartan43 49 28 1211.7ADIPOQ, LEP, PPARG
23triacylglycerol438.7INS, LEP, ADIPOQ, AGPAT2
24androstenedione43 249.6ADIPOQ, LEP, INS
25prostacyclin438.6PPARG, LEP, ADIPOQ, CAV1
26uric acid43 249.5ADIPOQ, LEP, INS
27telmisartan43 28 1210.4ADIPOQ, LEP, INS, PPARG
28orlistat43 59 1210.4PPARG, INS, LEP, ADIPOQ
29thiazolidinedione438.4PPARG, INS, LEP, ADIPOQ
30aicar43 24 1210.4PPARG, INS, LEP, ADIPOQ
31fenofibrate43 49 1210.4ADIPOQ, LEP, INS, PPARG
32metformin43 49 1210.4PPARG, INS, LEP, ADIPOQ
33pioglitazone28 43 49 1211.4ADIPOQ, LEP, INS, PPARG
34troglitazone43 28 59 1211.4PPARG, INS, LEP, ADIPOQ
35thyroxine43 249.4PPARG, INS, LEP, ADIPOQ
36glycerol43 24 1210.4PPARG, INS, LEP, ADIPOQ
37wortmannin438.3INS, LEP, ADIPOQ, CAV1
38pravastatin43 49 28 24 1212.2ADIPOQ, LEP, PPARG
39rapamycin438.2PPARG, INS, LEP, ADIPOQ
40arginine438.1INS, LEP, LMNA, ADIPOQ, CAV1
41ly294002438.1PPARG, INS, LEP, ADIPOQ, CAV1
42fatty acid438.1PPARG, INS, LEP, ADIPOQ, CAV1
43testosterone43 59 24 1211.0PPARG, INS, LEP, ADIPOQ, CAV1
44dexamethasone43 49 28 1210.9PPARG, INS, LEP, ADIPOQ, CAV1
45alanine437.9PPARG, INS, LMNA, ADIPOQ, CAV1
46cholesterol43 28 24 1210.8PPARG, INS, LEP, LMNA, ADIPOQ, CAV1
47serine437.6LEP, LMNA, LMNB2, ADIPOQ, CAV1, INS
48rosiglitazone28 43 49 24 1211.4CAV1, PPARG, INS, LEP, LMNA, ADIPOQ
49glucose437.4PPARG, INS, LEP, LMNA, ADIPOQ, LPIN1
50lipid437.2PPARG, INS, LEP, LMNA, ADIPOQ, LPIN1

GO Terms for genes affiliated with Lipodystrophy

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Cellular components related to Lipodystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:00057899.0AGPAT2, LPIN2, LPIN3, LPIN1
2endoplasmic reticulumGO:00057838.4AGPAT2, CAV1, ADIPOQ, PTRF

Biological processes related to Lipodystrophy according to GeneCards Suite gene sharing:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1lipid storageGO:001991510.1BSCL2, CAV1
2negative regulation of lipid catabolic processGO:00509959.9INS, BSCL2
3fatty acid catabolic processGO:00090629.8LPIN1, LEP
4negative regulation of acute inflammatory responseGO:00026749.8INS, PPARG
5positive regulation of cytokine productionGO:00018199.7AGPAT2, LEP
6triglyceride biosynthetic processGO:00194329.7LPIN1, LPIN2, AGPAT2
7positive regulation of insulin receptor signaling pathwayGO:00466289.6INS, LEP
8phosphatidylethanolamine biosynthetic processGO:00066469.6LPIN2, LPIN3, LPIN1
9phosphatidylcholine biosynthetic processGO:00066569.6LPIN1, LPIN3, LPIN2
10cellular lipid metabolic processGO:00442559.6AGPAT2, LPIN2, LPIN1
11membrane depolarizationGO:00518999.5CAV1, ADIPOQ
12negative regulation of gluconeogenesisGO:00457219.4INS, ADIPOQ
13positive regulation of cellular protein metabolic processGO:00322709.4ADIPOQ, INS
14fatty acid oxidationGO:00193959.4PPARG, ADIPOQ
15negative regulation of macrophage derived foam cell differentiationGO:00107459.4PPARG, ADIPOQ
16glycerophospholipid biosynthetic processGO:00464749.3AGPAT2, LPIN2, LPIN3, LPIN1
17phospholipid metabolic processGO:00066449.3AGPAT2, LPIN2, LPIN3, LPIN1
18positive regulation of glucose importGO:00463269.2INS, ADIPOQ
19negative regulation of smooth muscle cell proliferationGO:00486629.1ADIPOQ, PPARG
20circadian rhythmGO:00076239.0ADIPOQ, LEP
21placenta developmentGO:00018909.0LEP, PPARG
22brown fat cell differentiationGO:00508739.0ADIPOQ, PPARG
23glucose homeostasisGO:00425938.9PPARG, INS, ADIPOQ
24response to hypoxiaGO:00016668.9CAV1, ADIPOQ, LEP
25glucose metabolic processGO:00060068.8ADIPOQ, LEP, INS
26small molecule metabolic processGO:00442818.5AGPAT2, CAV1, LPIN2, LPIN3, LPIN1, INS

Molecular functions related to Lipodystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051989.6CAV1, LMNB2, LMNA
2phosphatidate phosphatase activityGO:00081959.1LPIN2, LPIN3, LPIN1
3hormone activityGO:00051798.2ADIPOQ, LEP, INS

Products for genes affiliated with Lipodystrophy

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Sources for Lipodystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet