MCID: LPT002
MIFTS: 49

Lipoatrophic Diabetes malady

Genetic diseases (common) category

Summaries for Lipoatrophic Diabetes

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9Disease Ontology, 66Wikipedia, 34MalaCards
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Wikipedia:66 Lipoatrophic diabetes is a type of diabetes mellitus presenting with severe lipodystrophy in addition to... more...

MalaCards: Lipoatrophic Diabetes, also known as familial partial lipodystrophy, type 2, is related to diabetes mellitus and lipodystrophy. An important gene associated with Lipoatrophic Diabetes is RETN (resistin), and among its related pathways are Development Leptin signaling via PI3K dependent pathway and SHC1 events in ERBB2 signaling. The compounds actos and saquinavir have been mentioned in the context of this disorder. Affiliated tissues include liver, b cells and adipocyte, and related mouse phenotypes are renal/urinary system and muscle.

Disease Ontology:9 A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes.

Aliases & Classifications for Lipoatrophic Diabetes

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9Disease Ontology, 63UMLS, 36MeSH, 59SNOMED-CT, 41NCIt
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Classifications:

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


Aliases & Descriptions:

lipoatrophic diabetes 9
familial partial lipodystrophy, type 2 63


External Ids:

Disease Ontology9 DOID:11712
NCIt41 C34537

Related Diseases for Lipoatrophic Diabetes

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18GeneCards, 19GeneDecks
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Diseases related to Lipoatrophic Diabetes via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes mellitus30.7PPARG, INS, LEP, IRS1, ADIPOQ, RETN
2lipodystrophy30.6PPARG, INS, LEP, ADIPOQ, RETN
3insulin resistance30.5PPARG, INS, LEP, IRS1, ADIPOQ, RETN
4congenital generalized lipodystrophy type 230.3PPARG, INS, LEP, ADIPOQ
5acquired generalized lipodystrophy30.2RETN, ADIPOQ, LEP
6hyperglycemia30.1PPARG, INS, LEP, IRS1, ADIPOQ, RETN
7hypertriglyceridemia30.0ADIPOQ, IRS1, LEP, INS, PPARG
8aredyld10.4
9congenital generalized lipodystrophy10.3
10lipodystrophy, familial partial, type 210.3
11rickets10.1
12hepatitis10.1
13liver disease10.1
14neuropathy10.1
15pancreatitis10.1
16retinal degeneration10.1
17retinitis10.1
18ectodermal dysplasia10.1
19nonalcoholic steatohepatitis10.1
20rabson-mendenhall syndrome10.1INS
21bulimia nervosa10.0RETN, LEP
22galactosemia10.0LEP, INS
23eating disorder10.0RETN, LEP
24morbid obesity10.0INS, LEP
25fetal macrosomia10.0INS, LEP
26anovulation10.0LEP, INS
27amenorrhea10.0LEP, INS
28hypopituitarism10.0LEP, INS
29obstructive sleep apnea10.0ADIPOQ, LEP
30pituitary adenoma10.0LEP, PPARG
31hyperthyroidism10.0INS, LEP, RETN
32choriocarcinoma10.0PPARG, LEP, IRS1
33hypothyroidism10.0RETN, LEP, INS
34polycystic ovary syndrome10.0IRS1, LEP, INS
35arteriosclerosis10.0ADIPOQ, PPARG
36infertility10.0INS, LEP, RETN
37type 1 diabetes mellitus10.0RETN, LEP, INS
38familial partial lipodystrophy10.0PPARG, INS, LEP
39primary hyperoxaluria10.0LEP, INS
40familial combined hyperlipidemia10.0INS, ADIPOQ
41bronchitis10.0ADIPOQ, LEP
42anorexia nervosa10.0LEP, ADIPOQ, RETN
43uremia10.0LEP, ADIPOQ, RETN
44cushing's syndrome10.0LEP, ADIPOQ, RETN
45liver cirrhosis10.0RETN, ADIPOQ, IRS1
46pre-eclampsia10.0LEP, ADIPOQ, RETN
47short stature10.0LEP, INS
48hypercholesterolemia10.0RETN, ADIPOQ, INS
49pancreatic cancer10.0PPARG, INS, IRS1
50prediabetes syndrome10.0ADIPOQ, INS, PPARG

Graphical network of the top 20 diseases related to Lipoatrophic Diabetes:



Diseases related to lipoatrophic diabetes

Symptoms for Lipoatrophic Diabetes

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Drugs & Therapeutics for Lipoatrophic Diabetes

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

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Drug clinical trials:

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Genetic Tests for Lipoatrophic Diabetes

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Anatomical Context for Lipoatrophic Diabetes

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34MalaCards
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MalaCards organs/tissues related to Lipoatrophic Diabetes:

34
Liver, B cells, Adipocyte

Animal Models for Lipoatrophic Diabetes or affiliated genes

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38MGI
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Publications for Lipoatrophic Diabetes

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53PubMed
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Articles related to Lipoatrophic Diabetes:

(show top 50)    (show all 80)
idTitleAuthorsYear
1
Lipoatrophic diabetes in an elderly woman: clinical course and serum adipocytokine concentrations. (15256772)
2004
2
Long-term leptin-replacement therapy for lipoatrophic diabetes. (15295061)
2004
3
Lipoatrophic diabetes-associated utero-ovarian dysfunction: influence of cellular lipid deposition on norepinephrine indices. (12218377)
2002
4
Lipoatrophic diabetes in Irs1(-/-)/Irs3(-/-) double knockout mice. (12502742)
2002
5
A case of congenital generalized lipodystrophy with lipoatrophic diabetes developing anti-insulin antibodies. (12207821)
2002
6
Lipoatrophic diabetes and end-stage liver disease secondary to nonalcoholic steatohepatitis with recurrence after liver transplantation. (11349722)
2001
7
A-ZIP/F-1 mice lacking white fat: a model for understanding lipoatrophic diabetes. (11126232)
2000
8
Late-onset lipoatrophic diabetes. Phenotypic and genotypic familial studies and effect of treatment with metformin and lispro insulin analog. (10480788)
1999
9
Transgenic mice lacking white fat: models for understanding human lipoatrophic diabetes. (10842669)
1999
10
Human peroxisome proliferator-activated receptor-gamma2: genetic mapping, identification of a variant in the coding sequence, and exclusion as the gene responsible for lipoatrophic diabetes. (9519760)
1998
11
Dysregulation of insulin-like growth factors in a case of generalized acquired lipoatrophic diabetes mellitus (Lawrence Syndrome) connected with autoantibodies against adipocyte membranes. (9516065)
1998
12
Improved glucose tolerance after effective lipid-lowering therapy with bezafibrate in a patient with lipoatrophic diabetes mellitus: a putative role for Randle's cycle in its pathogenesis? (9156048)
1997
13
Insulin receptor substrate-1 gene variants in lipoatrophic diabetes mellitus and non-insulin-dependent diabetes mellitus: a study of South African black and white subjects. (9385382)
1997
14
No coding mutations are detected in the peroxisome proliferator- activated receptor-gamma gene in Japanese patients with lipoatrophic diabetes. (9356045)
1997
15
Molecular scanning of beta-3-adrenergic receptor gene in total congenital lipoatrophic diabetes mellitus. (9329375)
1997
16
Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent MA1llerian ducts in a Turkish boy born to consanguineous parents. (8862631)
1996
17
Rheumatological manifestations of lipoatrophic diabetes. (7789070)
1995
18
Lipoatrophic diabetes. (8471812)
1993
19
Lipoatrophic diabetes. (1607489)
1992
20
Successful pregnancy outcome in association with lipoatrophic diabetes mellitus. (2216271)
1990
21
In vitro studies of insulin resistance in patients with lipoatrophic diabetes. Evidence for heterogeneous postbinding defects. (3288531)
1988
22
Metabolic studies in lipoatrophic diabetes: mechanism of hyperglycemia and evidence of resistance to insulin of lipid metabolism. (3292304)
1988
23
Lipid metabolism in lipoatrophic diabetes. (3198064)
1988
24
Case report 417: Lipoatrophic diabetes mellitus (generalized lipodystrophy). (3616671)
1987
25
Physiopathological mechanisms in lipoatrophic diabetes. (3545934)
1986
26
Recurrent ketoacidosis in acquired, total lipodystrophy (lipoatrophic diabetes). (6432502)
1984
27
Altered glucose transport conferring post-receptor insulin resistance to a patient with lipoatrophic diabetes. (6397368)
1984
28
AREDYLD: a syndrome combining an acrorenal field defect, ectodermal dysplasia, lipoatrophic diabetes, and other manifestations. (6638067)
1983
29
Lipoatrophic diabetes: endocrine dysfunction and the response to control hypertriglyceridemia. (6281608)
1982
30
Pancreatic B-cell function and abnormal urinary peptides in a boy with lipoatrophic diabetes and stenosis of the aqueduct of Sylvius. (7004059)
1980
31
The effect of diet upon carbohydrate metabolism, insulin resistance, and blood pressure in congenital total lipoatrophic diabetes. (7005617)
1980
32
Lipoatrophic diabetes with aortic insufficiency. (702234)
1978
33
Renal transplantation in a patient with lipoatrophic diabetes. A case report. (360516)
1978
34
Normal insulin binding to cultured fibroblasts from patients with lipoatrophic diabetes. (849993)
1977
35
Metabolic and endocrine studies in a case of lipoatrophic diabetes. (870793)
1977
36
Binding of insulin to fibroblasts in lipoatrophic diabetes. (882713)
1977
37
Nerve-growth factor and lipoatrophic diabetes. (802991)
1975
38
Familial lipoatrophic diabetes with dominant transmission. A new syndrome. (4362786)
1974
39
Hypothesis: hypothalamic dysfunction and lipoatrophic diabetes. (4365697)
1973
40
Studies on the pathogenesis of lipoatrophic diabetes: a case of congenital systemic absence of adipose tissue associated with insulin-resistant diabetes mellitus and hepatosplenomegaly. (4641790)
1972
41
Lipoatrophic diabetes: a new variant characterized by tapeto-retinal degeneration, late onset generalized lipoatrophy, insulin-resistant hyperglycemia and hyperlipidemia. (5051798)
1972
42
Albright's syndrome and lipoatrophic diabetes. (4115603)
1972
43
Lack of ketosis in lipoatrophic diabetes. (5039834)
1972
44
Serum insulin and growth hormone in lipoatrophic diabetes. (4891081)
1969
45
A diabetogenic polypeptide from hog and sheep adenohypophysis similar to that found in lipoatrophic diabetes. (5651597)
1968
46
LIPOATROPHIC DIABETES. I. STUDIES CONCERNING ENDOCRINE FUNCTION AND CARBOHYDRATE METABOLISM. (14261005)
1965
47
Two sibling cases with lipoatrophic diabetes. (5898664)
1965
48
Lipoatrophic diabetes. (13887740)
1962
49
Generalized lipoatrophy, hepatic cirrhosis, disturbed carbohydrate metabolism and accelerated growth (lipoatrophic diabetes). Longitudinal observations and metabolic studies. (14444009)
1960
50
Lipoatrophic diabetes. (13021561)
1952

Variations for Lipoatrophic Diabetes

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Lipoatrophic Diabetes:

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 Lipoatrophic Diabetes

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lipoatrophic Diabetes

Search GEO for disease gene expression data for Lipoatrophic Diabetes.

Pathways for genes affiliated with Lipoatrophic Diabetes

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Sources:
51PathCards, 61Thomson Reuters, 56Reactome, 39NCBI BioSystems Database, 62Tocris Bioscience, 31KEGG, 13EMD Millipore, 54QIAGEN, 52PharmGKB, 5Cell Signaling Technology, 55R&D Systems
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Pathways related to Lipoatrophic Diabetes according to GeneCards/GeneDecks:

(show all 25)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5IRS1, LEP
2
Show member pathways
9.5LEP, IRS1
3
Show member pathways
MAPK Cascade39
Immune response Oncostatin M signaling via MAPK in human cells61
Oncostatin M Signaling Pathway39
9.5IRS1, PPARG
4
Show member pathways
Insulin Pathway39
9.4INS, IRS1
59.4IRS1, INS
69.4IRS1, INS
7
Show member pathways
9.3LEP, INS
89.3LEP, INS
9
Show member pathways
9.3INS, PPARG
109.2RETN, ADIPOQ
119.2RETN, ADIPOQ
129.1LEP, ADIPOQ
13
Show member pathways
fatty acid beta-oxidation VI (peroxisome)39
9.1ADIPOQ, PPARG
148.9IRS1, LEP, INS
15
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
8.9IRS1, LEP, INS
16
Show member pathways
8.9INS, LEP, IRS1
17
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
8.9PPARG, INS, IRS1
188.7LEP, IRS1, ADIPOQ
19
Show member pathways
8.6ADIPOQ, LEP, PPARG
20
Show member pathways
8.6ADIPOQ, IRS1, INS
218.1PPARG, INS, IRS1, ADIPOQ
22
Show member pathways
8.0ADIPOQ, LEP, INS, PPARG
23
Show member pathways
IL-9 Signaling Pathway39
Development Thrombopoietin regulated cell processes61
IL-7 Signaling Pathway39
Immune response IL 9 signaling pathway61
7.6INS, LEP, IRS1, ADIPOQ, RETN
24
Show member pathways
7.5ADIPOQ, IRS1, LEP, INS, PPARG
257.1RETN, ADIPOQ, IRS1, LEP, INS, PPARG

Compounds for genes affiliated with Lipoatrophic Diabetes

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

(show top 50)    (show all 119)
idCompoundScoreTop Affiliating Genes
1actos469.5INS, PPARG
2saquinavir46 1210.0PPARG, IRS1, ADIPOQ
3stavudine46 1210.0PPARG, ADIPOQ, LEP
411beta-hydroxysteroid468.9LEP, RETN, ADIPOQ
5sulfonylurea468.9ADIPOQ, IRS1, INS
6sibutramine46 129.9INS, LEP, ADIPOQ
7acipimox46 309.8INS, ADIPOQ, LEP
8niacin46 129.7PPARG, ADIPOQ, INS
9bezafibrate46 30 1210.7PPARG, INS, ADIPOQ
10dehydroepiandrosterone sulfate468.6INS, ADIPOQ, LEP
11sterol468.6PPARG, ADIPOQ, IRS1, RETN
12streptozotocin468.6IRS1, INS, ADIPOQ
13nash468.5LEP, RETN, ADIPOQ, INS
14glimepiride46 52 1210.5PPARG, ADIPOQ, RETN, INS
15losartan46 52 30 1211.5PPARG, LEP, ADIPOQ, IRS1
16glycerol 3-phosphate46 259.5LEP, PPARG, ADIPOQ
178-isoprostane468.5INS, RETN, ADIPOQ, LEP
18dhea468.5INS, LEP, RETN, ADIPOQ
19uric acid46 259.5LEP, ADIPOQ, RETN, INS
20ritonavir46 52 1210.4PPARG, ADIPOQ, IRS1, INS
212-deoxyglucose46 129.4INS, PPARG, IRS1, ADIPOQ
22telmisartan46 30 1210.4INS, LEP, ADIPOQ, PPARG
23orlistat46 62 1210.4ADIPOQ, LEP, PPARG, INS
24aicar46 25 1210.4PPARG, LEP, ADIPOQ, INS
25palmitate468.4PPARG, INS, IRS1, ADIPOQ
26fibrinogen468.2RETN, ADIPOQ, LEP, INS
27norepinephrine46 25 1210.2RETN, ADIPOQ, LEP, INS
28glycogen46 259.2INS, ADIPOQ, RETN, IRS1
29c-peptide468.1ADIPOQ, IRS1, LEP, INS, RETN
30fenofibrate46 52 1210.0RETN, ADIPOQ, LEP, INS, PPARG
31thyroxine46 259.0PPARG, INS, RETN, LEP, ADIPOQ
32troglitazone46 30 62 1211.0IRS1, ADIPOQ, LEP, INS, PPARG
33glycerol46 25 129.9LEP, IRS1, INS, PPARG, ADIPOQ
34phosphatidylinositol467.9IRS1, RETN, INS, ADIPOQ, LEP
35rapamycin467.9IRS1, LEP, PPARG, INS, ADIPOQ
36glutamate467.9INS, LEP, IRS1, ADIPOQ, RETN
37alanine467.9PPARG, INS, IRS1, ADIPOQ, RETN
38cholesterol46 30 25 1210.9RETN, ADIPOQ, LEP, INS, PPARG
39wortmannin467.8ADIPOQ, INS, LEP, IRS1
40thiazolidinedione467.6INS, LEP, IRS1, ADIPOQ, RETN, PPARG
41pioglitazone30 46 52 1210.6LEP, ADIPOQ, IRS1, INS, PPARG, RETN
42metformin46 52 129.6PPARG, INS, LEP, RETN, ADIPOQ, IRS1
43rosiglitazone30 46 52 25 1211.6RETN, ADIPOQ, LEP, INS, PPARG, IRS1
44ly294002467.6ADIPOQ, LEP, INS, PPARG, IRS1, RETN
45fatty acid467.6LEP, INS, IRS1, RETN, ADIPOQ, PPARG
46testosterone46 62 25 1210.5RETN, ADIPOQ, IRS1, LEP, INS, PPARG
47dexamethasone46 52 30 1210.5RETN, INS, PPARG, ADIPOQ, LEP, IRS1
48estrogen467.5INS, LEP, IRS1, ADIPOQ, RETN, PPARG
49glucose467.5LEP, ADIPOQ, IRS1, INS, PPARG, RETN
50lipid467.5ADIPOQ, INS, LEP, PPARG, RETN, IRS1

GO Terms for genes affiliated with Lipoatrophic Diabetes

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17Gene Ontology
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Cellular components related to Lipoatrophic Diabetes according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.1RETN, ADIPOQ, LEP, INS

Biological processes related to Lipoatrophic Diabetes according to GeneCards/GeneDecks:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of feeding behaviorGO:20002529.8INS, RETN
2positive regulation of glycogen biosynthetic processGO:0457259.7IRS1, INS
3negative regulation of acute inflammatory responseGO:0026749.6PPARG, INS
4placenta developmentGO:0018909.6LEP, PPARG
5regulation of blood pressureGO:0082179.5LEP, PPARG
6response to insulinGO:0328689.4RETN, IRS1, LEP
7fatty acid oxidationGO:0193959.4PPARG, ADIPOQ
8negative regulation of macrophage derived foam cell differentiationGO:0107459.4PPARG, ADIPOQ
9positive regulation of MAPK cascadeGO:0434109.4LEP, INS
10negative regulation of smooth muscle cell proliferationGO:0486629.4ADIPOQ, PPARG
11brown fat cell differentiationGO:0508739.4PPARG, ADIPOQ
12negative regulation of gluconeogenesisGO:0457219.3ADIPOQ, INS
13energy reserve metabolic processGO:0061129.3LEP, INS
14positive regulation of cellular protein metabolic processGO:0322709.3ADIPOQ, INS
15circadian rhythmGO:0076239.3ADIPOQ, LEP
16positive regulation of insulin receptor signaling pathwayGO:0466289.2IRS1, LEP, INS
17regulation of insulin secretionGO:0507969.0LEP, INS
18positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.0INS, ADIPOQ
19response to nutrientGO:0075849.0ADIPOQ, PPARG
20positive regulation of cell proliferationGO:0082849.0INS, LEP, IRS1
21cellular response to insulin stimulusGO:0328699.0PPARG, IRS1, ADIPOQ
22positive regulation of glucose importGO:0463268.9INS, IRS1, ADIPOQ
23glucose metabolic processGO:0060068.8ADIPOQ, LEP, INS
24glucose homeostasisGO:0425938.4ADIPOQ, IRS1, INS, PPARG

Molecular functions related to Lipoatrophic Diabetes according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin receptor bindingGO:0051589.4IRS1, INS
2insulin-like growth factor receptor bindingGO:0051599.1IRS1, INS
3hormone activityGO:0051798.0RETN, ADIPOQ, LEP, INS

Products for genes affiliated with Lipoatrophic Diabetes

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  • Antibodies
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Sources for Lipoatrophic Diabetes

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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