MCID: LPT002
MIFTS: 50

Lipoatrophic Diabetes malady

Genetic diseases (common), Metabolic diseases categories

Summaries for Lipoatrophic Diabetes

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Wikipedia:64 Lipoatrophic diabetes is a type of diabetes mellitus presenting with severe lipodystrophy in addition to... more...

MalaCards based summary: Lipoatrophic Diabetes, also known as familial partial lipodystrophy, type 2, is related to acquired generalized lipodystrophy and lipodystrophy. An important gene associated with Lipoatrophic Diabetes is LMNA (lamin A/C), and among its related pathways are Apoptosis and survival Caspase cascade and Development Leptin signaling via PI3K dependent pathway. The compounds actos and indinavir have been mentioned in the context of this disorder. Affiliated tissues include adipocyte, liver and b cells, and related mouse phenotypes are hearing/vestibular/ear and reproductive system.

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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Lipoatrophic Diabetes, Aliases & Descriptions:

Name: Lipoatrophic Diabetes 9
 
Familial Partial Lipodystrophy, Type 2 61


Classifications:



External Ids:

Disease Ontology9 DOID:11712
NCIt39 C34537

Related Diseases for Lipoatrophic Diabetes

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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
1acquired generalized lipodystrophy30.3RETN, ADIPOQ, LEP
2lipodystrophy29.7PPARG, INS, LEP, LMNA, ADIPOQ, RETN
3congenital generalized lipodystrophy type 229.7ADIPOQ, LMNA, LEP, PPARG, INS
4diabetes mellitus29.6PPARG, INS, LEP, LMNA, IRS1, ADIPOQ
5insulin resistance29.4PPARG, INS, LEP, LMNA, IRS1, ADIPOQ
6hyperglycemia29.4PPARG, INS, LEP, IRS1, ADIPOQ, RETN
7mandibuloacral dysplasia10.4LMNA
8rabson-mendenhall syndrome10.4INS
9aredyld10.4
10lipodystrophy, familial partial, type 210.4
11congenital generalized lipodystrophy10.3
12galactosemia10.2LEP, INS
13bulimia nervosa10.2LEP, RETN
14morbid obesity10.2LEP, INS
15fetal macrosomia10.2LEP, INS
16eating disorder10.2RETN, LEP
17anovulation10.2INS, LEP
18obstructive sleep apnea10.2ADIPOQ, LEP
19amenorrhea10.2LEP, INS
20ectodermal dysplasia10.1
21hepatitis10.1
22liver disease10.1
23rickets10.1
24neuropathy10.1
25pancreatitis10.1
26retinal degeneration10.1
27retinitis10.1
28nonalcoholic steatohepatitis10.1
29hypopituitarism10.1INS, LEP
30familial combined hyperlipidemia10.0ADIPOQ, INS
31hyperthyroidism10.0RETN, LEP, INS
32hypothyroidism10.0RETN, LEP, INS
33short stature10.0LEP, INS
34polycystic ovary syndrome10.0IRS1, LEP, INS
35infertility10.0RETN, LEP, INS
36type 1 diabetes mellitus10.0RETN, LEP, INS
37anorexia nervosa10.0RETN, ADIPOQ, LEP
38uremia10.0LEP, ADIPOQ, RETN
39cushing's syndrome10.0LEP, ADIPOQ, RETN
40non-suppurative otitis media10.0LEP, ADIPOQ
41liver cirrhosis10.0RETN, ADIPOQ, IRS1
42hypercholesterolemia10.0INS, ADIPOQ, RETN
43pre-eclampsia10.0LEP, ADIPOQ, RETN
44growth hormone deficiency10.0ADIPOQ, LEP, INS
45hypogonadism9.9ADIPOQ, LEP, INS
46primary hyperoxaluria9.9INS, LEP
47congenital heart disease9.9RETN, ADIPOQ, LMNA
48arthritis9.9LEP, ADIPOQ, RETN
49arteriosclerosis9.9ADIPOQ, PPARG
50choriocarcinoma9.9PPARG, LEP, IRS1

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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Drug clinical trials:

Search ClinicalTrials for Lipoatrophic Diabetes

Search NIH Clinical Center for Lipoatrophic Diabetes

Genetic Tests for Lipoatrophic Diabetes

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Anatomical Context for Lipoatrophic Diabetes

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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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Publications for Lipoatrophic Diabetes

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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
Pancreatic B-cell function and abnormal urinary peptides in a boy with lipoatrophic diabetes and stenosis of the aqueduct of Sylvius. (7004059)
1980
30
The effect of diet upon carbohydrate metabolism, insulin resistance, and blood pressure in congenital total lipoatrophic diabetes. (7005617)
1980
31
Lipoatrophic diabetes with aortic insufficiency. (702234)
1978
32
Renal transplantation in a patient with lipoatrophic diabetes. A case report. (360516)
1978
33
Lipoatrophic diabetes. Report of a case. (153092)
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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Clinvar genetic disease variations for Lipoatrophic Diabetes:

7
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_170707.3(LMNA): c.1718C> T (p.Ser573Leu)single nucleotide variantPathogenicrs60890628GRCh37Chr 1, 156108298: 156108298

Expression for genes affiliated with Lipoatrophic Diabetes

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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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Pathways related to Lipoatrophic Diabetes according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
FAS pathway and Stress induction of HSP regulation37
Apoptosis and survival FAS signaling cascades59
Caspase cascade in apoptosis37
9.6IRS1, LMNA
29.5LEP, IRS1
3
Show member pathways
9.5IRS1, LEP
4
Show member pathways
MAPK Cascade37
Immune response Oncostatin M signaling via MAPK in human cells59
Oncostatin M Signaling Pathway37
9.5IRS1, PPARG
59.4IRS1, INS
6
Show member pathways
Insulin Pathway37
9.4IRS1, INS
79.4IRS1, INS
8
Show member pathways
9.3LEP, INS
99.3LEP, INS
10
Show member pathways
9.3INS, PPARG
119.2ADIPOQ, RETN
129.2ADIPOQ, RETN
139.1ADIPOQ, LEP
14
Show member pathways
fatty acid beta-oxidation VI (peroxisome)37
9.1PPARG, ADIPOQ
15
Show member pathways
8.9IRS1, LEP, INS
168.9IRS1, LEP, INS
17
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling59
Leptin signaling pathway37
8.9INS, LEP, IRS1
18
Show member pathways
Transcription Receptor mediated HIF regulation59
Development CNTF receptor signaling59
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades59
Translation Regulation activity of EIF259
Regulation of lipid metabolism Insulin signaling generic cascades59
Transcription PPAR Pathway59
Cell adhesion PLAU signaling59
Translation Regulation activity of EIF4F59
8.9IRS1, INS, PPARG
198.7LEP, IRS1, ADIPOQ
20
Show member pathways
8.6ADIPOQ, LEP, PPARG
21
Show member pathways
8.6ADIPOQ, IRS1, INS
228.1PPARG, INS, IRS1, ADIPOQ
23
Show member pathways
8.0ADIPOQ, LEP, INS, PPARG
24
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes59
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway59
7.6INS, LEP, IRS1, ADIPOQ, RETN
25
Show member pathways
7.5ADIPOQ, IRS1, LEP, INS, PPARG
266.7RETN, ADIPOQ, IRS1, LMNA, LEP, INS

Compounds for genes affiliated with Lipoatrophic Diabetes

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Compounds related to Lipoatrophic Diabetes according to GeneCards/GeneDecks:

(show top 50)    (show all 118)
idCompoundScoreTop Affiliating Genes
1actos449.4PPARG, INS
2indinavir44 50 1211.4IRS1, LMNA, PPARG
3saquinavir44 129.9ADIPOQ, PPARG, IRS1
4stavudine44 129.9LEP, PPARG, ADIPOQ
511beta-hydroxysteroid448.9ADIPOQ, LEP, RETN
6sulfonylurea448.9ADIPOQ, INS, IRS1
7sibutramine44 129.8LEP, INS, ADIPOQ
8acipimox44 299.8INS, LEP, ADIPOQ
9niacin44 129.7INS, ADIPOQ, PPARG
10bezafibrate44 29 1210.7ADIPOQ, INS, PPARG
11glycerol 3-phosphate44 259.6ADIPOQ, LEP, PPARG
12sterol448.5ADIPOQ, PPARG, IRS1, RETN
13glimepiride44 50 1210.5INS, ADIPOQ, RETN, PPARG
14nash448.5LEP, RETN, ADIPOQ, INS
15dehydroepiandrosterone sulfate448.5INS, LEP, ADIPOQ
16losartan44 50 29 1211.5PPARG, ADIPOQ, IRS1, LEP
178-isoprostane448.5RETN, ADIPOQ, LEP, INS
18streptozotocin448.5IRS1, ADIPOQ, INS
19dhea448.5RETN, LEP, ADIPOQ, INS
20uric acid44 259.5ADIPOQ, LEP, INS, RETN
21ritonavir44 50 1210.4ADIPOQ, PPARG, INS, IRS1
222-deoxyglucose44 129.4ADIPOQ, PPARG, IRS1, INS
23telmisartan44 29 1210.4PPARG, INS, LEP, ADIPOQ
24orlistat44 60 1210.4ADIPOQ, PPARG, INS, LEP
25aicar44 25 1210.4PPARG, INS, LEP, ADIPOQ
26palmitate448.4INS, PPARG, IRS1, ADIPOQ
27c-peptide448.1RETN, INS, LEP, IRS1, ADIPOQ
28creatinine448.0RETN, ADIPOQ, LMNA, LEP, INS
29fenofibrate44 50 1210.0RETN, PPARG, INS, LEP, ADIPOQ
30thyroxine44 259.0ADIPOQ, RETN, PPARG, LEP, INS
31troglitazone44 29 60 1211.0ADIPOQ, INS, LEP, IRS1, PPARG
32glycerol44 25 129.9INS, ADIPOQ, IRS1, LEP, PPARG
33arginine447.9LMNA, INS, ADIPOQ, LEP, IRS1
34rapamycin447.9PPARG, LEP, IRS1, ADIPOQ, INS
35phosphatidylinositol447.9IRS1, ADIPOQ, RETN, LEP, INS
36fibrinogen447.8INS, LEP, ADIPOQ, RETN
37glutamate447.7RETN, ADIPOQ, INS, LEP, IRS1
38alanine447.6INS, LMNA, PPARG, IRS1, ADIPOQ, RETN
39cholesterol44 29 25 1210.6LEP, RETN, ADIPOQ, PPARG, INS, LMNA
40thiazolidinedione447.6PPARG, RETN, ADIPOQ, IRS1, LEP, INS
41metformin44 50 129.6PPARG, LEP, ADIPOQ, RETN, IRS1, INS
42pioglitazone29 44 50 1210.6INS, LEP, IRS1, ADIPOQ, RETN, PPARG
43ly294002447.6PPARG, RETN, ADIPOQ, IRS1, INS, LEP
44fatty acid447.5INS, IRS1, PPARG, RETN, LEP, ADIPOQ
45testosterone44 60 25 1210.5IRS1, ADIPOQ, PPARG, RETN, INS, LEP
46dexamethasone44 50 29 1210.5PPARG, IRS1, LEP, INS, ADIPOQ, RETN
47estrogen447.5RETN, INS, LEP, IRS1, ADIPOQ, PPARG
48rosiglitazone29 44 50 25 1211.2RETN, ADIPOQ, IRS1, LMNA, LEP, INS
49glucose447.2PPARG, RETN, ADIPOQ, INS, LEP, LMNA
50lipid447.2LMNA, ADIPOQ, PPARG, INS, LEP, IRS1

GO Terms for genes affiliated with Lipoatrophic Diabetes

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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 25)
idNameGO IDScoreTop Affiliating Genes
1protein localization to nucleusGO:0345049.9IRS1, LMNA
2negative regulation of feeding behaviorGO:20002529.8RETN, INS
3negative regulation of acute inflammatory responseGO:0026749.7INS, PPARG
4positive regulation of glycogen biosynthetic processGO:0457259.7IRS1, INS
5placenta developmentGO:0018909.6LEP, PPARG
6regulation of blood pressureGO:0082179.5LEP, PPARG
7response to insulinGO:0328689.4RETN, IRS1, LEP
8fatty acid oxidationGO:0193959.4PPARG, ADIPOQ
9negative regulation of macrophage derived foam cell differentiationGO:0107459.4PPARG, ADIPOQ
10positive regulation of MAPK cascadeGO:0434109.4LEP, INS
11negative regulation of smooth muscle cell proliferationGO:0486629.4PPARG, ADIPOQ
12brown fat cell differentiationGO:0508739.4ADIPOQ, PPARG
13negative regulation of gluconeogenesisGO:0457219.3ADIPOQ, INS
14positive regulation of cellular protein metabolic processGO:0322709.3ADIPOQ, INS
15energy reserve metabolic processGO:0061129.3LEP, INS
16circadian rhythmGO:0076239.3ADIPOQ, LEP
17positive regulation of insulin receptor signaling pathwayGO:0466289.2IRS1, LEP, INS
18positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.0INS, ADIPOQ
19regulation of insulin secretionGO:0507969.0LEP, INS
20response to nutrientGO:0075849.0ADIPOQ, PPARG
21positive regulation of cell proliferationGO:0082849.0INS, LEP, IRS1
22cellular response to insulin stimulusGO:0328699.0PPARG, IRS1, ADIPOQ
23positive regulation of glucose importGO:0463268.9INS, IRS1, ADIPOQ
24glucose metabolic processGO:0060068.8INS, LEP, ADIPOQ
25glucose 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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Sources for Lipoatrophic Diabetes

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet