MCID: ACQ022
MIFTS: 47

Acquired Generalized Lipodystrophy malady

Genetic diseases, Skin diseases, Endocrine diseases, Rare diseases, Fetal diseases, Neuronal diseases, Muscle diseases categories

Summaries for Acquired Generalized Lipodystrophy

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66Wikipedia, 34MalaCards
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Wikipedia:66 Acquired generalized lipodystrophy (also known as \"Lawrence syndrome,\" and \"Lawrence?Seip syndrome\")... more...

MalaCards: Acquired Generalized Lipodystrophy, also known as familial partial lipodystrophy, type 2, is related to lipodystrophy and acanthosis nigricans. An important gene associated with Acquired Generalized Lipodystrophy is RETN (resistin), and among its related pathways are Selected targets of C EBPalpha and Selected targets of C EBPbeta. The compounds atazanavir and olmesartan have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related mouse phenotypes are endocrine/exocrine gland and renal/urinary system.

Aliases & Classifications for Acquired Generalized Lipodystrophy

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50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
acquired generalized lipodystrophy:
Inheritance: Sporadic; Age of onset: Variable


Aliases & Descriptions:

acquired generalized lipodystrophy 50
familial partial lipodystrophy, type 2 63
familial generalized lipodystrophy 63
acquired lipoatrophic diabetes 50
lawrence-seip syndrome 50
lawrence syndrome 50


External Ids:

ICD10 via Orphanet27 E88.1
SNOMED-CT via Orphanet60 86907008
UMLS via Orphanet64 C0271693

Related Diseases for Acquired Generalized Lipodystrophy

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18GeneCards, 19GeneDecks
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Diseases in the Congenital Generalized Lipodystrophy Type 2 family:

Congenital Generalized Lipodystrophy Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 4 Congenital Generalized Lipodystrophy Type 3
acquired generalized lipodystrophy

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

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy30.9INS, RETN, LEP, ADIPOQ
2acanthosis nigricans30.4LEP, ADIPOQ, INS
3type 2 diabetes mellitus30.1RETN, INS, LEP, ADIPOQ
4insulin resistance30.1RETN, ADIPOQ, LEP, INS
5diabetes mellitus30.1INS, LEP, RETN, ADIPOQ
6lipoatrophic diabetes10.3
7unicameral bone cyst10.2
8pulmonary tuberculosis10.2
9autoimmune hepatitis10.2
10hepatitis10.2
11panniculitis10.2
12tuberculosis10.2
13cerebellar degeneration10.2
14rabson-mendenhall syndrome10.1INS
15prediabetes syndrome10.0ADIPOQ, INS
16idiopathic edema10.0INS, ADIPOQ
17familial partial lipodystrophy10.0INS, LEP
18familial combined hyperlipidemia10.0ADIPOQ, INS
19fetal macrosomia10.0LEP, INS
20anovulation10.0LEP, INS
21bulimia nervosa10.0LEP, RETN
22amenorrhea10.0LEP, INS
23obstructive sleep apnea10.0ADIPOQ, LEP
24morbid obesity10.0INS, LEP
25hypopituitarism10.0LEP, INS
26eating disorder10.0RETN, LEP
27liver cirrhosis10.0RETN, ADIPOQ
28polycystic ovary syndrome10.0INS, LEP
29diabetic nephropathy10.0INS, ADIPOQ
30hypercholesterolemia10.0INS, RETN, ADIPOQ
31primary hyperoxaluria10.0LEP, INS
32vascular disease10.0ADIPOQ, RETN, INS
33bronchitis10.0ADIPOQ, LEP
34short stature10.0INS, LEP
35coronary artery disease10.0INS, RETN, ADIPOQ
36hyperinsulinism10.0RETN, LEP, INS
37fatty liver disease10.0INS, RETN, LEP
38proteinuria10.0ADIPOQ, INS
39hyperthyroidism10.0INS, LEP, RETN
40hypothyroidism10.0LEP, INS, RETN
41congenital heart disease10.0LEP, INS, RETN
42infertility10.0LEP, RETN, INS
43type 1 diabetes mellitus10.0LEP, INS, RETN
44congenital generalized lipodystrophy type 210.0LEP, INS, ADIPOQ
45hypertension10.0RETN, LEP, INS
46growth hormone deficiency10.0INS, ADIPOQ, LEP
47anorexia nervosa9.9LEP, ADIPOQ, RETN
48uremia9.9ADIPOQ, LEP, RETN
49cushing's syndrome9.9LEP, ADIPOQ, RETN
50hypogonadism9.9LEP, ADIPOQ, INS

Graphical network of the top 20 diseases related to Acquired Generalized Lipodystrophy:



Diseases related to acquired generalized lipodystrophy

Symptoms for Acquired Generalized Lipodystrophy

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Drugs & Therapeutics for Acquired Generalized Lipodystrophy

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Acquired Generalized Lipodystrophy

Drug clinical trials:

Search ClinicalTrials for Acquired Generalized Lipodystrophy

Search NIH Clinical Center for Acquired Generalized Lipodystrophy

Search CenterWatch for Acquired Generalized Lipodystrophy

Genetic Tests for Acquired Generalized Lipodystrophy

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Anatomical Context for Acquired Generalized Lipodystrophy

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34MalaCards
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MalaCards organs/tissues related to Acquired Generalized Lipodystrophy:

34
Skin, Bone

Animal Models for Acquired Generalized Lipodystrophy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Acquired Generalized Lipodystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.5ADIPOQ, LEP, INS
2MP:00053678.4ADIPOQ, LEP, INS
3MP:00053698.2INS, LEP, ADIPOQ
4MP:00053758.1RETN, ADIPOQ, LEP, INS
5MP:00053708.1INS, LEP, ADIPOQ, RETN
6MP:00053768.0INS, LEP, ADIPOQ, RETN

Publications for Acquired Generalized Lipodystrophy

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53PubMed
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Articles related to Acquired Generalized Lipodystrophy:

(show all 11)
idTitleAuthorsYear
1
Comment on: late-onset acquired generalized lipodystrophy with muscle involvement. (23985087)
2013
2
Acquired generalized lipodystrophy associated with peripheral TA cell lymphoma with cutaneous infiltration. (24168394)
2013
3
Late-onset acquired generalized lipodystrophy with muscle involvement. (22188950)
2012
4
Acquired generalized lipodystrophy associated with autoimmune hepatitis and low serum C4 level. (21274335)
2010
5
Case report: unicameral bone cysts in a young patient with acquired generalized lipodystrophy. (19924491)
2010
6
Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment. (20616664)
2010
7
Type 1 diabetes associated with acquired generalized lipodystrophy and insulin resistance: the effect of long-term leptin therapy. (17940115)
2008
8
Acquired generalized lipodystrophy (panniculitis variety) triggered by pulmonary tuberculosis. (17651183)
2007
9
A case of acquired generalized lipodystrophy with cerebellar degeneration and type 2 diabetes mellitus. (17491704)
2004
10
Dysregulation of growth hormone in acquired generalized lipodystrophy. (15573230)
2004
11
Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature. (12640189)
2003

Variations for Acquired Generalized Lipodystrophy

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Acquired Generalized Lipodystrophy:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1LMNANM_005572.3(LMNA): c.178C> G (p.Arg60Gly)single nucleotide variantPathogenicrs28928900GRCh37Chr 1, 156084887: 156084887
2LMNANM_005572.3(LMNA): c.1580G> C (p.Arg527Pro)single nucleotide variantPathogenicrs57520892GRCh37Chr 1, 156106995: 156106995
3LMNANM_005572.3(LMNA): c.1445G> A (p.Arg482Gln)single nucleotide variantPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
4LMNANM_005572.3(LMNA): c.398G> T (p.Arg133Leu)single nucleotide variantPathogenicrs60864230GRCh37Chr 1, 156100449: 156100449
5LMNANM_005572.3(LMNA): c.1444C> T (p.Arg482Trp)single nucleotide variantPathogenicrs57920071GRCh37Chr 1, 156106775: 156106775
6LMNANM_005572.3(LMNA): c.1445G> T (p.Arg482Leu)single nucleotide variantPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
7LMNANM_005572.3(LMNA): c.1394G> A (p.Gly465Asp)single nucleotide variantPathogenicrs61282106GRCh37Chr 1, 156106725: 156106725
8LMNANM_170707.3(LMNA): c.1745G> A (p.Arg582His)single nucleotide variantPathogenicrs57830985GRCh37Chr 1, 156108325: 156108325
9LMNANM_170707.3(LMNA): c.1718C> T (p.Ser573Leu)single nucleotide variantPathogenic, Uncertain significancers60890628GRCh37Chr 1, 156108298: 156108298
10LMNANM_005572.3(LMNA): c.688G> A (p.Asp230Asn)single nucleotide variantPathogenicrs61214927GRCh37Chr 1, 156104644: 156104644
11LMNANM_005572.3(LMNA): c.1195C> T (p.Arg399Cys)single nucleotide variantPathogenicrs58672172GRCh37Chr 1, 156106042: 156106042

Expression for genes affiliated with Acquired Generalized Lipodystrophy

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Acquired Generalized Lipodystrophy

Search GEO for disease gene expression data for Acquired Generalized Lipodystrophy.

Pathways for genes affiliated with Acquired Generalized Lipodystrophy

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51PathCards, 13EMD Millipore, 5Cell Signaling Technology, 39NCBI BioSystems Database, 31KEGG, 52PharmGKB, 54QIAGEN, 61Thomson Reuters, 56Reactome, 55R&D Systems
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Pathways related to Acquired Generalized Lipodystrophy according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3RETN, ADIPOQ
29.3RETN, ADIPOQ
39.3ADIPOQ, INS
4
Show member pathways
9.3ADIPOQ, INS
59.1LEP, INS
6
Show member pathways
9.1LEP, INS
7
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
9.1LEP, INS
89.1INS, LEP
9
Show member pathways
9.1INS, LEP
10
Show member pathways
9.0ADIPOQ, LEP
119.0LEP, ADIPOQ
129.0ADIPOQ, LEP
13
Show member pathways
8.5INS, LEP, ADIPOQ
14
Show member pathways
8.5ADIPOQ, LEP, INS
158.0RETN, ADIPOQ, LEP, INS
16
Show member pathways
IL-9 Signaling Pathway39
Development Thrombopoietin regulated cell processes61
IL-7 Signaling Pathway39
Immune response IL 9 signaling pathway61
8.0RETN, ADIPOQ, LEP, INS

Compounds for genes affiliated with Acquired Generalized Lipodystrophy

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Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 62Tocris Bioscience, 25HMDB
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Compounds related to Acquired Generalized Lipodystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 95)
idCompoundScoreTop Affiliating Genes
1atazanavir46 52 1211.5ADIPOQ, INS
2olmesartan46 30 1211.4ADIPOQ, INS
3exenatide46 1210.4INS, LEP
4glimepiride46 52 1211.2RETN, ADIPOQ, INS
52-arachidonoylglycerol46 3010.2ADIPOQ, LEP
6pramlintide46 1210.1INS, LEP
7beta-hydroxybutyrate469.1LEP, INS
8rimonabant46 30 1211.1LEP, ADIPOQ
9sibutramine46 129.9LEP, ADIPOQ, INS
10stavudine46 129.9LEP, ADIPOQ
11acipimox46 309.9INS, ADIPOQ, LEP
12telmisartan46 30 1210.9LEP, INS, ADIPOQ
13orlistat46 62 1210.9ADIPOQ, INS, LEP
14aicar46 25 1210.9LEP, ADIPOQ, INS
1511beta-hydroxysteroid468.9RETN, ADIPOQ, LEP
16dehydroepiandrosterone sulfate468.9ADIPOQ, LEP, INS
17glibenclamide46 30 52 6211.9ADIPOQ, INS, LEP
18olanzapine46 52 30 25 1212.9LEP, INS, ADIPOQ
19triacylglycerol468.9LEP, INS, ADIPOQ
20androstenedione46 259.9INS, LEP, ADIPOQ
21p003468.8LEP, ADIPOQ, RETN
22p002468.8RETN, ADIPOQ, LEP
23troglitazone46 30 62 1211.8LEP, INS, ADIPOQ
24carbohydrates468.8INS, LEP, ADIPOQ
25glycerol46 25 1210.7LEP, ADIPOQ, INS
26vitamin a46 25 1210.7LEP, ADIPOQ, RETN
27nash468.4RETN, ADIPOQ, LEP, INS
28thiazolidinedione468.4INS, LEP, ADIPOQ, RETN
298-isoprostane468.4RETN, INS, LEP, ADIPOQ
30fenofibrate46 52 1210.4INS, LEP, RETN, ADIPOQ
31metformin46 52 1210.4RETN, LEP, INS, ADIPOQ
32c-peptide468.4RETN, ADIPOQ, LEP, INS
33dhea468.4INS, ADIPOQ, LEP, RETN
34pioglitazone30 46 52 1211.4ADIPOQ, INS, LEP, RETN
35uric acid46 259.4RETN, INS, LEP, ADIPOQ
36rosiglitazone30 46 52 25 1212.4ADIPOQ, LEP, INS, RETN
37thyroxine46 259.4RETN, ADIPOQ, LEP, INS
38fibrinogen468.4ADIPOQ, LEP, RETN, INS
39norepinephrine46 25 1210.4RETN, ADIPOQ, INS, LEP
40ly294002468.4LEP, ADIPOQ, INS, RETN
41fatty acid468.4INS, ADIPOQ, LEP, RETN
42creatinine468.4INS, LEP, RETN, ADIPOQ
43testosterone46 62 25 1211.3ADIPOQ, LEP, RETN, INS
44cholesterol46 30 25 1211.3LEP, RETN, ADIPOQ, INS
45dexamethasone46 52 30 1211.3ADIPOQ, LEP, INS, RETN
46phosphatidylinositol468.3ADIPOQ, RETN, INS, LEP
47glutamate468.3RETN, ADIPOQ, INS, LEP
48estrogen468.2RETN, INS, LEP, ADIPOQ
49glucose468.2ADIPOQ, LEP, INS, RETN
50lipid467.7ADIPOQ, LEP, INS, RETN

GO Terms for genes affiliated with Acquired Generalized Lipodystrophy

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17Gene Ontology
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Cellular components related to Acquired Generalized Lipodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.5ADIPOQ, LEP, INS
2extracellular spaceGO:0056157.7RETN, ADIPOQ, LEP, INS

Biological processes related to Acquired Generalized Lipodystrophy according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of feeding behaviorGO:20002529.7RETN, INS
2negative regulation of gluconeogenesisGO:0457219.6INS, ADIPOQ
3positive regulation of cellular protein metabolic processGO:0322709.6ADIPOQ, INS
4positive regulation of glucose importGO:0463269.5ADIPOQ, INS
5positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.4ADIPOQ, INS
6positive regulation of insulin receptor signaling pathwayGO:0466289.4INS, LEP
7response to insulinGO:0328689.3RETN, LEP
8positive regulation of MAPK cascadeGO:0434109.2LEP, INS
9glucose homeostasisGO:0425939.2INS, ADIPOQ
10circadian rhythmGO:0076239.2LEP, ADIPOQ
11regulation of insulin secretionGO:0507969.1INS, LEP
12response to hypoxiaGO:0016669.0ADIPOQ, LEP
13energy reserve metabolic processGO:0061128.8LEP, INS
14glucose metabolic processGO:0060068.8ADIPOQ, LEP, INS

Molecular functions related to Acquired Generalized Lipodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:0051798.0RETN, ADIPOQ, LEP, INS

Products for genes affiliated with Acquired Generalized Lipodystrophy

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Sources for Acquired Generalized Lipodystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet