MCID: LPT002
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Lipoatrophic Diabetes malady

Genetic diseases category

Summaries for Lipoatrophic Diabetes

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Wikipedia:63 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 familial partial lipodystrophy. An important gene associated with Lipoatrophic Diabetes is IRS1 (insulin receptor substrate 1), and among its related pathways are Development Leptin signaling via PI3K-dependent pathway and AMPK signaling. The compounds norepinephrine and fatty acid have been mentioned in the context of this disorder. Affiliated tissues include adipocyte, liver and b cells, and related mouse phenotypes are endocrine/exocrine gland and adipose tissue.

Disease Ontology:8 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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8Disease Ontology, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt
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Classifications:

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


Aliases & Descriptions:

lipoatrophic diabetes 8
familial partial lipodystrophy, type 2 60


External Ids:

Disease Ontology8 DOID:11712
NCIt39 C34537

Related Diseases for Lipoatrophic Diabetes

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17GeneCards, 18GeneDecks
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Diseases related to Lipoatrophic Diabetes via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 104)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes mellitus30.8IRS1, PPARG, RETN, INS, LEP, ADIPOQ
2familial partial lipodystrophy30.8LEP, INS, PPARG
3lipodystrophy30.7PPARG, RETN, INS, LEP, ADIPOQ
4vascular disease30.3PPARG, RETN, INS, ADIPOQ
5congenital generalized lipodystrophy type 230.3PPARG, INS, LEP, ADIPOQ
6hyperglycemia30.3IRS1, PPARG, RETN, INS, LEP, ADIPOQ
7diabetic retinopathy30.1INS
8pancreatitis30.1INS
9acquired generalized lipodystrophy30.1ADIPOQ, LEP, RETN
10diabetic nephropathy30.1PPARG, INS, ADIPOQ
11congenital generalized lipodystrophy10.3
12skin disease10.3
13vascular skin disease10.3
14aredyld10.2
15lipodystrophy, familial partial, type 210.2
16diabetic ketoacidosis10.1
17rickets10.1
18diabetic neuropathy10.1
19hepatitis10.1
20liver disease10.1
21neuropathy10.1
22retinal degeneration10.1
23retinitis10.1
24acute myocardial infarction10.0RETN
25osteoarthritis10.0RETN
26acute pancreatitis10.0RETN
27hepatitis c10.0IRS1
28leukemia10.0IRS1
29rabson-mendenhall syndrome10.0INS
30myopathy10.0INS
31hepatitis b10.0ADIPOQ
32blindness10.0INS
33schizophrenia10.0INS
34cystic fibrosis10.0INS
35stomach cancer10.0ADIPOQ
36asthma10.0ADIPOQ
37thyrotoxicosis10.0INS
38leiomyoma10.0IRS1
39severe pre-eclampsia10.0LEP
40thyroid cancer10.0PPARG
41bulimia nervosa10.0RETN, LEP
42pituitary tumors10.0PPARG
43myocardial infarction10.0RETN, ADIPOQ
44galactosemia10.0LEP, INS
45amenorrhea10.0LEP, INS
46multiple sclerosis10.0PPARG
47rheumatoid arthritis10.0ADIPOQ, RETN
48fetal macrosomia10.0LEP, INS
49eating disorder10.0LEP, RETN
50anovulation10.0LEP, INS

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



Diseases related to lipoatrophic diabetes

Clinical Features for Lipoatrophic Diabetes

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Drugs & Therapeutics for Lipoatrophic Diabetes

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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32MalaCards
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MalaCards organs/tissues related to Lipoatrophic Diabetes:

32
Adipocyte, Liver, B cells

Animal Models for Lipoatrophic Diabetes or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Lipoatrophic Diabetes:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.3IRS1
2MP:000537510.2RETN
3MP:00053678.1ADIPOQ, LEP, INS, PPARG
4MP:00107718.1ADIPOQ, LEP, INS, PPARG
5MP:00053697.9IRS1, PPARG, INS, LEP, ADIPOQ
6MP:00053857.8IRS1, PPARG, INS, LEP, ADIPOQ
7MP:00053977.8IRS1, PPARG, INS, LEP, ADIPOQ
8MP:00053877.6IRS1, PPARG, INS, LEP, ADIPOQ
9MP:00053847.5IRS1, PPARG, INS, LEP, ADIPOQ
10MP:00053707.4ADIPOQ, LEP, INS, RETN, PPARG, IRS1
11MP:00053787.3IRS1, PPARG, INS, LEP, ADIPOQ
12MP:00053767.3IRS1, PPARG, RETN, INS, LEP, ADIPOQ

Publications for Lipoatrophic Diabetes

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50PubMed
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Articles related to Lipoatrophic Diabetes:

(show top 50)    (show all 81)
idTitleAuthorsYear
1
Lipoatrophic diabetes-associated utero-ovarian dysfunction: influence of cellular lipid deposition on norepinephrine indices. (12218377)
2002
2
A case of congenital generalized lipodystrophy with lipoatrophic diabetes developing anti-insulin antibodies. (12207821)
2002
3
Lipoatrophic diabetes and end-stage liver disease secondary to nonalcoholic steatohepatitis with recurrence after liver transplantation. (11349722)
2001
4
Transgenic overexpression of leptin rescues insulin resistance and diabetes in a mouse model of lipoatrophic diabetes. (11375346)
2001
5
A-ZIP/F-1 mice lacking white fat: a model for understanding lipoatrophic diabetes. (11126232)
2000
6
Successful outcome of pregnancy in a patient with generalized lipoatrophic diabetes mellitus. (11419925)
2000
7
Late-onset lipoatrophic diabetes. Phenotypic and genotypic familial studies and effect of treatment with metformin and lispro insulin analog. (10480788)
1999
8
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
9
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
10
Lipoatrophic diabetes mellitus treated by continuous subcutaneous insulin infusion. (9932222)
1998
11
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
12
Rheumatological manifestations of lipoatrophic diabetes. (7789070)
1995
13
Lipoatrophic diabetes: genetic exclusion of the insulin receptor gene. (7829633)
1995
14
Lipoatrophic diabetes. (1607489)
1992
15
Successful pregnancy outcome in association with lipoatrophic diabetes mellitus. (2216271)
1990
16
In vivo and in vitro characterization of insulin resistance in three cases of lipoatrophic diabetes. (2210020)
1990
17
In vitro studies of insulin resistance in patients with lipoatrophic diabetes. Evidence for heterogeneous postbinding defects. (3288531)
1988
18
Metabolic studies in lipoatrophic diabetes: mechanism of hyperglycemia and evidence of resistance to insulin of lipid metabolism. (3292304)
1988
19
Lipid metabolism in lipoatrophic diabetes. (3198064)
1988
20
Case report 417: Lipoatrophic diabetes mellitus (generalized lipodystrophy). (3616671)
1987
21
Physiopathological mechanisms in lipoatrophic diabetes. (3545934)
1986
22
The isolation and characterization of an insulin-releasing tetrapeptide from urines of patients with lipoatrophic diabetes. (6378198)
1984
23
The effect of diet upon carbohydrate metabolism, insulin resistance, and blood pressure in congenital total lipoatrophic diabetes. (7005617)
1980
24
Lipoatrophic diabetes with aortic insufficiency. (702234)
1978
25
Lipoatrophic diabetes. Report of a case. (153092)
1978
26
Normal insulin binding to cultured fibroblasts from patients with lipoatrophic diabetes. (849993)
1977
27
Metabolic and endocrine studies in a case of lipoatrophic diabetes. (870793)
1977
28
Binding of insulin to fibroblasts in lipoatrophic diabetes. (882713)
1977
29
Muscle capillary basement membrane thickness in lipoatrophic diabetes. (594501)
1977
30
Congenital generalized lipodystrophy and experimental lipoatrophic diabetes in rabbits treated successfully with fenfluramine. (577333)
1977
31
A case of Lipoatrophic diabetes. (1110998)
1975
32
Familial lipoatrophic diabetes with dominant transmission. A new syndrome. (4362786)
1974
33
Hypothesis: hypothalamic dysfunction and lipoatrophic diabetes. (4365697)
1973
34
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
35
Lipoatrophic diabetes: a new variant characterized by tapeto-retinal degeneration, late onset generalized lipoatrophy, insulin-resistant hyperglycemia and hyperlipidemia. (5051798)
1972
36
Albright's syndrome and lipoatrophic diabetes. (4115603)
1972
37
Serum insulin and growth hormone in lipoatrophic diabetes. (4891081)
1969
38
Lipoatrophic diabetes: an improved procedure for the isolation and purification of a diabetogenic polypeptide from urine. (5788258)
1969
39
A diabetogenic polypeptide from hog and sheep adenohypophysis similar to that found in lipoatrophic diabetes. (5651597)
1968
40
Lipoatrophic diabetes and mental illness in three siblings. (6054344)
1967
41
Lipoatrophic diabetes mellitus (generalized lipodystrophy): roentgen findings in two brothers with congenital disease. (4864233)
1967
42
Lipodystrophy, a variant of lipoatrophic diabetes. (6054345)
1967
43
Retinopathy, nephropathy, and neuropathy in lipoatrophic diabetes. Case report and discussion. (5936463)
1966
44
LIPOATROPHIC DIABETES. I. STUDIES CONCERNING ENDOCRINE FUNCTION AND CARBOHYDRATE METABOLISM. (14261005)
1965
45
Two sibling cases with lipoatrophic diabetes. (5898664)
1965
46
LIPOATROPHIC DIABETES. II. METABOLIC STUDIES CONCERNING THE MECHANISM OF LIPEMIA. (14261006)
1965
47
LIPOATROPHIC DIABETES. ISOLATION AND CHARACTERIZATION OF AN INSULIN ANTAGONIST FROM URINE. (14068079)
1963
48
Lipoatrophic diabetes. (13887740)
1962
49
Progressive lipodystrophy and lipoatrophic diabetes. Review of the literature and case reports. (13775651)
1961
50
Generalized lipoatrophy, hepatic cirrhosis, disturbed carbohydrate metabolism and accelerated growth (lipoatrophic diabetes). Longitudinal observations and metabolic studies. (14444009)
1960

Genetic Variations for Lipoatrophic Diabetes

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Expression for genes affiliated with Lipoatrophic Diabetes

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1BioGPS, 15Gene 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:
12EMD Millipore, 37NCBI BioSystems Database, 29KEGG, 53Reactome, 52R&D Systems, 51QIAGEN, 49PharmGKB, 4Cell Signaling Technology
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Pathways related to Lipoatrophic Diabetes according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Development Leptin signaling via PI3K-dependent pathway
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9.6LEP, IRS1
29.5ADIPOQ, LEP
39.4ADIPOQ, RETN
49.4ADIPOQ, RETN
59.3ADIPOQ, PPARG
69.2INS, IRS1
79.2IRS1, INS
89.2INS, IRS1
9
Hide members
9.2INS, IRS1
10
Hide members
9.2IRS1, INS
11
Development Prolactin receptor signaling
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9.2INS, IRS1
12
Hide members
9.2LEP, INS
139.2INS, LEP
149.1IRS1, LEP, ADIPOQ
15
Hide members
9.0IRS1, RETN, ADIPOQ
168.9PPARG, LEP, ADIPOQ
178.8LEP, INS, IRS1
188.8LEP, INS, IRS1
19
Hide members
8.7ADIPOQ, INS, IRS1
208.1IRS1, PPARG, INS, ADIPOQ
21
Hide members
7.6ADIPOQ, LEP, INS, PPARG, IRS1
227.1ADIPOQ, LEP, INS, RETN, PPARG, IRS1

Compounds for genes affiliated with Lipoatrophic Diabetes

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Lipoatrophic Diabetes according to GeneCards/GeneDecks:

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1norepinephrine44 11 2412.1RETN
2fatty acid449.9IRS1, PPARG
3glucose449.8PPARG, IRS1
4streptozotocin449.3ADIPOQ, INS
5actos449.3INS, PPARG
611beta-hydroxysteroid449.3RETN, ADIPOQ, LEP
7stavudine44 1110.2PPARG, LEP, ADIPOQ
8saquinavir44 1110.2PPARG, ADIPOQ, IRS1
9palmitate449.1IRS1, INS, ADIPOQ
10sulfonylurea449.1ADIPOQ, IRS1, INS
11sibutramine44 1110.0INS, LEP, ADIPOQ
12hbig449.0INS, PPARG
13acipimox44 2810.0INS, ADIPOQ, LEP
14glycerol 3-phosphate44 2410.0PPARG, LEP, ADIPOQ
15losartan44 49 28 1111.8IRS1, ADIPOQ, LEP, PPARG
16niacin44 119.8PPARG, ADIPOQ, INS
17bezafibrate44 28 1110.8INS, PPARG, ADIPOQ
18olanzapine49 44 28 11 2412.7ADIPOQ, LEP, INS
19sterol448.7PPARG, RETN, ADIPOQ, IRS1
20glibenclamide44 28 49 5911.7LEP, INS, ADIPOQ
21nash448.6INS, RETN, LEP, ADIPOQ
228-isoprostane448.6RETN, INS, LEP, ADIPOQ
23dhea448.5LEP, ADIPOQ, INS, RETN
24ritonavir44 49 1110.5ADIPOQ, INS, IRS1, PPARG
252-deoxyglucose44 119.5PPARG, INS, ADIPOQ, IRS1
26telmisartan44 28 1110.5LEP, INS, PPARG, ADIPOQ
27orlistat44 59 1110.5ADIPOQ, LEP, PPARG, INS
28aicar44 11 2410.5INS, LEP, ADIPOQ, PPARG
29glimepiride44 49 1110.4ADIPOQ, PPARG, RETN, INS
30fibrinogen448.3LEP, ADIPOQ, RETN, INS
31c-peptide448.2RETN, INS, LEP, ADIPOQ, IRS1
32wortmannin448.2IRS1, INS, ADIPOQ, LEP
33troglitazone44 28 59 1111.1IRS1, PPARG, INS, LEP, ADIPOQ
34glycerol44 11 2410.1ADIPOQ, LEP, INS, PPARG, IRS1
35phosphatidylinositol448.0RETN, IRS1, INS, LEP, ADIPOQ
36rapamycin448.0LEP, PPARG, ADIPOQ, INS, IRS1
37glutamate448.0ADIPOQ, LEP, INS, RETN, IRS1
38fenofibrate44 49 1110.0RETN, PPARG, INS, LEP, ADIPOQ
39thyroxine44 248.9RETN, INS, ADIPOQ, LEP, PPARG
40glycogen44 248.9IRS1, ADIPOQ, INS, RETN
41cholesterol44 28 11 2410.9RETN, INS, LEP, ADIPOQ, PPARG
42alanine447.8RETN, INS, ADIPOQ, PPARG, IRS1
43thiazolidinedione447.6IRS1, RETN, INS, LEP, ADIPOQ, PPARG
44metformin44 49 119.6ADIPOQ, RETN, LEP, INS, PPARG, IRS1
45pioglitazone44 49 28 1110.6LEP, INS, RETN, ADIPOQ, IRS1, PPARG
46rosiglitazone44 49 28 11 2411.6ADIPOQ, LEP, RETN, PPARG, INS, IRS1
47ly294002447.6IRS1, RETN, INS, LEP, PPARG, ADIPOQ
48testosterone44 59 11 2410.5ADIPOQ, IRS1, LEP, PPARG, RETN, INS
49dexamethasone44 49 28 1110.5INS, ADIPOQ, LEP, IRS1, PPARG, RETN
50lipid447.5INS, IRS1, PPARG, RETN, ADIPOQ, LEP

GO Terms for genes affiliated with Lipoatrophic Diabetes

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

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.2ADIPOQ, LEP, INS, RETN

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1circadian rhythmGO:0076239.6LEP, ADIPOQ
2negative regulation of macrophage derived foam cell differentiationGO:0107459.6PPARG, ADIPOQ
3fatty acid oxidationGO:0193959.6ADIPOQ, PPARG
4placenta developmentGO:0018909.5LEP, PPARG
5negative regulation of smooth muscle cell proliferationGO:0486629.5PPARG, ADIPOQ
6brown fat cell differentiationGO:0508739.5ADIPOQ, PPARG
7positive regulation of glycogen biosynthetic processGO:0457259.5INS, IRS1
8negative regulation of gluconeogenesisGO:0457219.4ADIPOQ, INS
9response to insulin stimulusGO:0328689.4LEP, RETN, IRS1
10positive regulation of cellular protein metabolic processGO:0322709.4ADIPOQ, INS
11regulation of blood pressureGO:0082179.4LEP, PPARG
12negative regulation of acute inflammatory responseGO:0026749.3INS, PPARG
13cellular response to insulin stimulusGO:0328699.2IRS1, PPARG, ADIPOQ
14positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.1ADIPOQ, INS
15positive regulation of insulin receptor signaling pathwayGO:0466289.1LEP, INS, IRS1
16positive regulation of MAPK cascadeGO:0434109.1INS, LEP
17positive regulation of glucose importGO:0463269.1IRS1, INS, ADIPOQ
18response to nutrientGO:0075849.0ADIPOQ, PPARG
19glucose metabolic processGO:0060069.0INS, LEP, ADIPOQ
20positive regulation of cell proliferationGO:0082848.9LEP, INS, IRS1
21glucose homeostasisGO:0425938.4ADIPOQ, INS, PPARG, IRS1

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

idNameGO IDScoreTop Affiliating Genes
1insulin receptor bindingGO:0051589.2INS, IRS1
2insulin-like growth factor receptor bindingGO:0051598.9INS, IRS1
3hormone activityGO:0051798.1ADIPOQ, LEP, INS, RETN

Products for genes affiliated with Lipoatrophic Diabetes

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Sources for Lipoatrophic Diabetes

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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