MCID: LPD010
MIFTS: 59

Lipodystrophy malady

Summaries for Lipodystrophy

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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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: 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

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 27ICD9CM, 34MeSH
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Aliases & Descriptions:

lipodystrophy 8 42 10 44 60
lipodystrophy nos 8


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Disease Ontology8 DOID:811
ICD9CM27 272.6
MeSH34 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 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

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Drugs & Therapeutics for Lipodystrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Lipodystrophy

Search NIH Clinical Center for Lipodystrophy

Search CenterWatch for Lipodystrophy

Genetic Tests for Lipodystrophy

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Anatomical Context for Lipodystrophy

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32MalaCards
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MalaCards organs/tissues related to Lipodystrophy:

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

Animal Models for Lipodystrophy or affiliated genes

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36MGI
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Publications for Lipodystrophy

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50PubMed
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Articles related to Lipodystrophy:

(show top 50)    (show all 805)
idTitleAuthorsYear
1
The clinical approach to the detection of lipodystrophy - an AACE consensus statement. (23435042)
2013
2
Leptin replacement therapy does not improve the abnormal lipid kinetics of hypoleptinemic patients with HIV-associated lipodystrophy syndrome. (22542724)
2012
3
Prevalence of lipodystrophy and metabolic syndrome among HIV positive individuals on Highly Active Anti-Retroviral treatment in Jimma, South West Ethiopia. (23330034)
2012
4
The human lipodystrophy protein seipin is an ER membrane adaptor for the adipogenic PA phosphatase lipin 1. (24024128)
2012
5
Consequences of stopping and restarting leptin in an adolescent with lipodystrophy. (22965160)
2012
6
What should we know about metabolic syndrome and lipodystrophy in AIDS? (22392319)
2012
7
Lipodystrophy and insulin resistance in combination antiretroviral treated HIV-1-infected patients: implication of resistin. (21317795)
2011
8
Growth hormone and tesamorelin in the management of HIV-associated lipodystrophy. (22096409)
2011
9
Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. (21594993)
2011
10
A hypomorphic mutation in Lpin1 induces progressively improving neuropathy and lipodystrophy in the rat. (21715287)
2011
11
Fat mass ratio: an objective tool to define lipodystrophy in hiv-infected patients under antiretroviral therapy. (20347364)
2010
12
Clinical classification and treatment of congenital and acquired lipodystrophy. (20061300)
2010
13
A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene. (21126715)
2010
14
Cutaneous toxicities of antiretroviral therapy for HIV: part I. Lipodystrophy syndrome, nucleoside reverse transcriptase inhibitors, and protease inhibitors. (20846563)
2010
15
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. (20159315)
2010
16
Does segmental lipodystrophy represent mosaicism of inherited lipodystrophy? (19231655)
2009
17
Fat distribution and longitudinal anthropometric changes in HIV-infected men with and without clinical evidence of lipodystrophy and HIV-uninfected controls: a substudy of the Multicenter AIDS Cohort Study. (19439092)
2009
18
GH/GHRH axis in HIV lipodystrophy. (18270841)
2009
19
Lipodystrophy and metabolic disorders in HIV-1-infected adults on 4- to 9-year antiretroviral therapy in Senegal: a case-control study. (19339897)
2009
20
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. (19041432)
2009
21
Genetic polymorphisms differently influencing the emergence of atrophy and fat accumulation in HIV-related lipodystrophy. (18753860)
2008
22
Digital photography as an operational tool for assessing corticosteroid-induced lipodystrophy. (18549936)
2008
23
A mouse model of conditional lipodystrophy. (17921248)
2007
24
Primary lipodystrophies]. (17320032)
2007
25
A randomized clinical trial to evaluate the effect of diet on weight loss and coping of people living with HIV and lipodystrophy. (17584429)
2007
26
The role of adipokines in relation to HIV lipodystrophy. (17457082)
2007
27
Efficacy of pioglitazone in familial partial lipodystrophy of the Dunnigan type: a case report. (17936664)
2007
28
Is oxygen a key factor in the lipodystrophy phenotype? (17049073)
2006
29
An unusual case of an acquired acral partial lipodystrophy (Barraquer-Simons syndrome) in a patient with extrinsic allergic alveolitis. (16716174)
2006
30
HIV-associated lipodystrophy syndrome. (17508476)
2006
31
Case 88: Congenital generalized lipodystrophy. (16244256)
2005
32
Genetic basis of congenital generalized lipodystrophy. (14557833)
2004
33
Increased systemic and adipose tissue cytokines in patients with HIV-associated lipodystrophy. (14532165)
2004
34
Adipocytes targets and actors in the pathogenesis of HIV-associated lipodystrophy and metabolic alterations. (15134178)
2004
35
Successful renal transplantation in a patient with congenital generalized lipodystrophy: a case report. (14962001)
2004
36
Acquired and inherited lipodystrophies. (15028826)
2004
37
Intramyocellular lipid accumulation and reduced whole body lipid oxidation in HIV lipodystrophy. (12388139)
2003
38
Adipocyte-derived hormone levels in HIV lipodystrophy. (12713059)
2003
39
Prevalence of mutations in AGPAT2 among human lipodystrophies. (12765973)
2003
40
Insulin resistance and lipodystrophy in mice lacking ribosomal S6 kinase 2. (12765942)
2003
41
Facial lipodystrophy in patients with HIV infections troublesome to treat]. (12395531)
2002
42
Skeletal muscle mitochondrial function and exercise capacity in HIV-infected patients with lipodystrophy and elevated p-lactate levels. (11953463)
2002
43
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. (11479539)
2001
44
Beta3-adrenergic receptor polymorphism and the antiretroviral therapy-related lipodystrophy syndrome. (10930169)
2000
45
Insulin resistance in human partial lipodystrophy. (11122771)
2000
46
Enoxaparin-induced cutaneous necrosis localized on insulin lipodystrophies]. (9739898)
1997
47
Limited joint mobility and lipodystrophy in children and adolescents with insulin-dependent diabetes mellitus. (7899179)
1994
48
Clostridial gas gangrene associated with congenital generalized lipodystrophy: report of a case. (7780235)
1994
49
Discordant metabolic actions of insulin in extreme lipodystrophy of childhood. (8077317)
1993
50
Membranoproliferative glomerulonephritis, type II and partial lipodystrophy in an adult. (3766535)
1986

Genetic Variations for Lipodystrophy

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Expression for genes affiliated with Lipodystrophy

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1BioGPS, 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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37NCBI BioSystems Database, 4Cell Signaling Technology, 53Reactome, 29KEGG, 12EMD Millipore, 52R&D Systems
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Pathways related to Lipodystrophy according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.9PPARG, BSCL2, LPIN2, LPIN1, LPIN3, ZMPSTE24
210.6SREBF1, PLIN1, INS, PPARG, LPIN1, ADIPOQ
3
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10.6SREBF1, AGPAT2, LPIN2, LPIN1, LPIN3
4
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10.6PPARG, INS, LEP, SREBF1, ADIPOQ
5
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10.6LPIN1, AGPAT2, LPIN3, LPIN2
6
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10.6LPIN1, LPIN3, AGPAT2, LPIN2
710.6AGPAT2, LPIN1, LPIN2, LPIN3
810.6CAV1, EMD, LMNA, LMNB2
9
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10.6INS, SREBF1, LPIN1, PPARG
1010.6PLIN1, LEP, PPARG, ADIPOQ
11
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10.6LPIN1, LPIN2, LPIN3
12
Apoptosis and survival Caspase cascade
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10.6LMNB2, SREBF1, LMNA
1310.6CAV1, INS, LEP
1410.6INS, LEP, LPIN1
15
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10.6PLIN1, LEP, INS
1610.6ADIPOQ, SREBF1, LEP
1710.6ADIPOQ, PLIN1, PPARG
18
Hide members
10.5LMNA, EMD
19
Hide members
10.5ADIPOQ, RETN

Compounds for genes affiliated with Lipodystrophy

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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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

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

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

Biological processes related to Lipodystrophy according to GeneCards/GeneDecks:

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

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet