MCID: ACQ022
MIFTS: 47

Acquired Generalized Lipodystrophy malady

Genetic diseases, Skin diseases, Endocrine diseases, Rare diseases, Fetal diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Acquired Generalized Lipodystrophy

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65Wikipedia, 33MalaCards
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Wikipedia:65 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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49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
acquired generalized lipodystrophy:
Inheritance: Sporadic; Age of onset: Variable


Aliases & Descriptions:

acquired generalized lipodystrophy 49
familial partial lipodystrophy, type 2 62
familial generalized lipodystrophy 62
acquired lipoatrophic diabetes 49
lawrence-seip syndrome 49
lawrence syndrome 49


External Ids:

ICD10 via Orphanet26 E88.1
SNOMED-CT via Orphanet59 86907008
UMLS via Orphanet63 C0271693

Related Diseases for Acquired Generalized Lipodystrophy

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Acquired Generalized Lipodystrophy

Search NIH Clinical Center for Acquired Generalized Lipodystrophy

Genetic Tests for Acquired Generalized Lipodystrophy

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Anatomical Context for Acquired Generalized Lipodystrophy

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33MalaCards
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MalaCards organs/tissues related to Acquired Generalized Lipodystrophy:

33
Skin, Bone

Animal Models for Acquired Generalized Lipodystrophy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Acquired Generalized Lipodystrophy:

37
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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52PubMed
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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, 15Gene 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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50PathCards, 12EMD Millipore, 5Cell Signaling Technology, 38NCBI BioSystems Database, 30KEGG, 51PharmGKB, 53QIAGEN, 60Thomson Reuters, 55Reactome, 54R&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 Pathway38
Development Prolactin receptor signaling60
Leptin signaling pathway38
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 Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
8.0RETN, ADIPOQ, LEP, INS

Compounds for genes affiliated with Acquired Generalized Lipodystrophy

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

(show top 50)    (show all 95)
idCompoundScoreTop Affiliating Genes
1atazanavir45 51 1111.5ADIPOQ, INS
2olmesartan45 29 1111.4ADIPOQ, INS
3exenatide45 1110.4INS, LEP
4glimepiride45 51 1111.2RETN, ADIPOQ, INS
52-arachidonoylglycerol45 2910.2ADIPOQ, LEP
6pramlintide45 1110.1INS, LEP
7beta-hydroxybutyrate459.1LEP, INS
8rimonabant45 29 1111.1LEP, ADIPOQ
9sibutramine45 119.9LEP, ADIPOQ, INS
10stavudine45 119.9LEP, ADIPOQ
11acipimox45 299.9INS, ADIPOQ, LEP
12telmisartan45 29 1110.9LEP, INS, ADIPOQ
13orlistat45 61 1110.9ADIPOQ, INS, LEP
14aicar45 24 1110.9LEP, ADIPOQ, INS
1511beta-hydroxysteroid458.9RETN, ADIPOQ, LEP
16dehydroepiandrosterone sulfate458.9ADIPOQ, LEP, INS
17glibenclamide45 29 51 6111.9ADIPOQ, INS, LEP
18olanzapine45 51 29 24 1112.9LEP, INS, ADIPOQ
19triacylglycerol458.9LEP, INS, ADIPOQ
20androstenedione45 249.9INS, LEP, ADIPOQ
21p003458.8LEP, ADIPOQ, RETN
22p002458.8RETN, ADIPOQ, LEP
23troglitazone45 29 61 1111.8LEP, INS, ADIPOQ
24carbohydrates458.8INS, LEP, ADIPOQ
25glycerol45 24 1110.7LEP, ADIPOQ, INS
26vitamin a45 24 1110.7LEP, ADIPOQ, RETN
27nash458.4RETN, ADIPOQ, LEP, INS
28thiazolidinedione458.4INS, LEP, ADIPOQ, RETN
298-isoprostane458.4RETN, INS, LEP, ADIPOQ
30fenofibrate45 51 1110.4INS, LEP, RETN, ADIPOQ
31metformin45 51 1110.4RETN, LEP, INS, ADIPOQ
32c-peptide458.4RETN, ADIPOQ, LEP, INS
33dhea458.4INS, ADIPOQ, LEP, RETN
34pioglitazone29 45 51 1111.4ADIPOQ, INS, LEP, RETN
35uric acid45 249.4RETN, INS, LEP, ADIPOQ
36rosiglitazone29 45 51 24 1112.4ADIPOQ, LEP, INS, RETN
37thyroxine45 249.4RETN, ADIPOQ, LEP, INS
38fibrinogen458.4ADIPOQ, LEP, RETN, INS
39norepinephrine45 24 1110.4RETN, ADIPOQ, INS, LEP
40ly294002458.4LEP, ADIPOQ, INS, RETN
41fatty acid458.4INS, ADIPOQ, LEP, RETN
42creatinine458.4INS, LEP, RETN, ADIPOQ
43testosterone45 61 24 1111.3ADIPOQ, LEP, RETN, INS
44cholesterol45 29 24 1111.3LEP, RETN, ADIPOQ, INS
45dexamethasone45 51 29 1111.3ADIPOQ, LEP, INS, RETN
46phosphatidylinositol458.3ADIPOQ, RETN, INS, LEP
47glutamate458.3RETN, ADIPOQ, INS, LEP
48estrogen458.2RETN, INS, LEP, ADIPOQ
49glucose458.2ADIPOQ, LEP, INS, RETN
50lipid457.7ADIPOQ, LEP, INS, RETN

GO Terms for genes affiliated with Acquired Generalized Lipodystrophy

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16Gene 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
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