MCID: LPD010
MIFTS: 59

Lipodystrophy malady

Rare diseases, Skin diseases categories
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Summaries for Lipodystrophy

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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 based summary: Lipodystrophy is related to berardinelli-seip congenital lipodystrophy and mandibuloacral dysplasia. 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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Lipodystrophy, Aliases & Descriptions:

Name: Lipodystrophy 8 42 10 44 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:811
MeSH34 D008060
ICD9CM27 272.6

Related Diseases for Lipodystrophy

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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 lipodystrophy31.7BSCL2, AGPAT2
2mandibuloacral dysplasia31.3LMNA
3acquired generalized lipodystrophy30.7LEP, ADIPOQ
4familial partial lipodystrophy30.6PPARG, BSCL2, INS, LEP, LMNA, AGPAT2
5emery-dreifuss muscular dystrophy30.6LMNB2, LMNA
6obstructive sleep apnea30.1LEP, ADIPOQ
7fatty liver disease29.8PPARG, INS, LEP
8hypertension29.8PPARG, INS, LEP, CAV1
9insulin resistance29.6AGPAT2, LPIN1, ADIPOQ, LMNA, PPARG, BSCL2
10congenital generalized lipodystrophy type 229.6PPARG, BSCL2, INS, LEP, LMNA, ADIPOQ
11polycystic ovary syndrome29.6INS, LEP
12hypogonadism29.6ADIPOQ, LEP, INS
13diabetes mellitus29.6PPARG, BSCL2, INS, LEP, LMNA, ADIPOQ
14growth hormone deficiency29.4ADIPOQ, LEP, INS
15acromegaly29.4ADIPOQ, LEP, INS
16atherosclerosis29.4CAV1, ADIPOQ, LMNA, LEP, INS, PPARG
17hypertriglyceridemia29.3PPARG, BSCL2, INS, LEP, ADIPOQ
18vascular disease29.3PPARG, INS, ADIPOQ, CAV1
19obesity29.3PPARG, INS, LEP, LMNA, ADIPOQ, LPIN1
20acanthosis nigricans29.2AGPAT2, BSCL2, INS, LEP, LMNA, ADIPOQ
21type 2 diabetes mellitus29.1PPARG, INS, LEP, LMNA, ADIPOQ
22congenital generalized lipodystrophy10.8
23congenital generalized lipodystrophy type 410.5
24distal hereditary motor neuropathy10.5AGPAT2
25congenital generalized lipodystrophy type 110.5
26lipodystrophy, familial partial, type 210.5
27barraquer-simons syndrome10.4
28rabson-mendenhall syndrome10.4INS
29centrifugal lipodystrophy10.4
30pelger-huet anomaly10.4LMNB2, LMNA
31muscular dystrophy10.4
32mandibuloacral dysplasia with type b lipodystrophy10.4
33familial partial lipodystrophy, kobberling type10.4
34lipoatrophic diabetes10.3
35autoinflammation, lipodystrophy, and dermatosis syndrome10.3
36hepatitis10.3
37hiv/aids10.3
38hiv-110.3
39glomerulonephritis10.3
40dermatomyositis10.3
41short syndrome10.3
42chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature10.3
43mandibuloacral dysplasia with type a lipodystrophy10.3
44congenital generalized lipodystrophy type 310.3
45familial partial lipodystrophy type 410.3
46lipodystrophy due to peptidic growth factors deficiency10.3
47whipple disease10.2
48familial partial lipodystrophy type 310.2
49membranoproliferative glomerulonephritis10.2
50panniculitis10.2

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:

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Genetic Tests for Lipodystrophy

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Anatomical Context for Lipodystrophy

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MalaCards organs/tissues related to Lipodystrophy:

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

Animal Models for Lipodystrophy or affiliated genes

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MGI Mouse Phenotypes related to Lipodystrophy:

36 (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 823)
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
AIDS-related lipodystrophy/insulin resistance syndrome. (12734771)
2003
36
The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy. (12057196)
2002
37
TNF-alpha promoter region gene polymorphisms in HIV-positive patients with lipodystrophy. (12370499)
2002
38
Effect of subcutaneous leptin replacement therapy on bone metabolism in patients with generalized lipodystrophy. (12414854)
2002
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
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
Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy. (9784493)
1998
45
Limited joint mobility and lipodystrophy in children and adolescents with insulin-dependent diabetes mellitus. (7899179)
1994
46
Discordant metabolic actions of insulin in extreme lipodystrophy of childhood. (8077317)
1993
47
Congenital generalized lipodystrophy associated with multiple sclerosis. (1592577)
1992
48
The efficacy of using single-component insulin preparations in diabetes mellitus and generalized lipodystrophy]. (2194203)
1990
49
Generalised lipodystrophy. (2392709)
1990
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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Expression patterns in normal tissues for genes affiliated with Lipodystrophy

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Pathways for genes affiliated with Lipodystrophy

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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 Pathway37
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 Pathway37
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway37
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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Compounds related to Lipodystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 93)
idCompoundScoreTop Affiliating Genes
1actos449.8INS, PPARG
2hbig449.8INS, PPARG
3mitiglinide44 1110.7INS, PPARG
4exenatide44 1110.5INS, LEP
5glimepiride44 50 1111.0PPARG, INS, ADIPOQ
6niacin44 1110.0PPARG, INS, ADIPOQ
7bezafibrate44 28 1111.0ADIPOQ, INS, PPARG
8ritonavir44 50 1111.0PPARG, INS, ADIPOQ
9sibutramine44 119.9INS, LEP, ADIPOQ
10stavudine44 119.9PPARG, LEP, ADIPOQ
11acipimox44 289.9ADIPOQ, LEP, INS
12nash448.9INS, LEP, ADIPOQ
132-deoxyglucose44 119.9PPARG, INS, ADIPOQ
148-isoprostane448.9ADIPOQ, LEP, INS
15dehydroepiandrosterone sulfate448.9ADIPOQ, LEP, INS
16glycerol 3-phosphate44 249.8PPARG, LEP, ADIPOQ
17glibenclamide44 28 50 6111.8ADIPOQ, LEP, INS
18c-peptide448.8INS, LEP, ADIPOQ
19olanzapine44 50 28 24 1112.8ADIPOQ, LEP, INS
20dhea448.8ADIPOQ, LEP, INS
21palmitate448.7PPARG, INS, ADIPOQ, CAV1
22losartan44 50 28 1111.7ADIPOQ, LEP, PPARG
23triacylglycerol448.7INS, LEP, ADIPOQ, AGPAT2
24androstenedione44 249.6ADIPOQ, LEP, INS
25prostacyclin448.6PPARG, LEP, ADIPOQ, CAV1
26uric acid44 249.5ADIPOQ, LEP, INS
27telmisartan44 28 1110.4ADIPOQ, LEP, INS, PPARG
28orlistat44 61 1110.4PPARG, INS, LEP, ADIPOQ
29thiazolidinedione448.4PPARG, INS, LEP, ADIPOQ
30aicar44 24 1110.4PPARG, INS, LEP, ADIPOQ
31fenofibrate44 50 1110.4ADIPOQ, LEP, INS, PPARG
32metformin44 50 1110.4PPARG, INS, LEP, ADIPOQ
33pioglitazone28 44 50 1111.4ADIPOQ, LEP, INS, PPARG
34troglitazone44 28 61 1111.4PPARG, INS, LEP, ADIPOQ
35thyroxine44 249.4PPARG, INS, LEP, ADIPOQ
36glycerol44 24 1110.4PPARG, INS, LEP, ADIPOQ
37wortmannin448.3INS, LEP, ADIPOQ, CAV1
38pravastatin44 50 28 24 1112.2ADIPOQ, LEP, PPARG
39rapamycin448.2PPARG, INS, LEP, ADIPOQ
40arginine448.1INS, LEP, LMNA, ADIPOQ, CAV1
41ly294002448.1PPARG, INS, LEP, ADIPOQ, CAV1
42fatty acid448.1PPARG, INS, LEP, ADIPOQ, CAV1
43testosterone44 61 24 1111.0PPARG, INS, LEP, ADIPOQ, CAV1
44dexamethasone44 50 28 1110.9PPARG, INS, LEP, ADIPOQ, CAV1
45alanine447.9PPARG, INS, LMNA, ADIPOQ, CAV1
46cholesterol44 28 24 1110.8PPARG, INS, LEP, LMNA, ADIPOQ, CAV1
47serine447.6LEP, LMNA, LMNB2, ADIPOQ, CAV1, INS
48rosiglitazone28 44 50 24 1111.4CAV1, PPARG, INS, LEP, LMNA, ADIPOQ
49glucose447.4PPARG, INS, LEP, LMNA, ADIPOQ, LPIN1
50lipid447.2PPARG, INS, LEP, LMNA, ADIPOQ, LPIN1

GO Terms for genes affiliated with Lipodystrophy

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Cellular components related to Lipodystrophy according to GeneCards/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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Sources for Lipodystrophy

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet