MCID: FML012
MIFTS: 59

Familial Partial Lipodystrophy malady

Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Fetal diseases, Cardiovascular diseases categories
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Summaries for Familial Partial Lipodystrophy

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Familial partial lipodystrophy (also known as \"K more...

MalaCards: Familial Partial Lipodystrophy, also known as familial partial lipodystrophy, type 2, is related to lipodystrophy and mandibuloacral dysplasia. An important gene associated with Familial Partial Lipodystrophy is LMNA (lamin A/C), and among its related pathways are Regulation of Glucokinase by Glucokinase Regulatory Protein and Nuclear Envelope Reassembly. The compounds Thyroxine sulfate and glimepiride have been mentioned in the context of this disorder. Affiliated tissues include skin, skeletal muscle and adipocyte, and related mouse phenotypes are normal and tumorigenesis.

Description from OMIM:47 151660,604367

Aliases & Classifications for Familial Partial Lipodystrophy

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8Disease Ontology, 43NIH Rare Diseases, 22GTR, 45Novoseek, 62UMLS, 35MeSH, 47OMIM
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Classifications:



Aliases & Descriptions:

familial partial lipodystrophy 8 43 22 62
familial partial lipodystrophy, type 2 62
lipodystrophy, familial partial 45
koberling-dunnigan syndrome 8
dunnigan syndrome 8


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Disease Ontology8 DOID:0050440
MeSH35 D052496

Related Diseases for Familial Partial Lipodystrophy

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17GeneCards, 18GeneDecks
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Diseases in the Lipodystrophy, Familial Partial, Type 2 family:

familial partial lipodystrophy Familial Partial Lipodystrophy Type 3
Familial Partial Lipodystrophy Type 4 Lipodystrophy, Familial Partial, Type 5
Familial Partial Lipodystrophy Due to Akt2 Mutations

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

(show top 50)    (show all 98)
idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy31.5LMNA, LEP, INS, PPARG, EMD, ADIPOQ
2mandibuloacral dysplasia30.6LMNA
3obstructive sleep apnea30.5ADIPOQ, LEP
4insulin resistance30.4PPARG, PPARGC1A, INS, RETN, CAPN3, RBP4
5emery-dreifuss muscular dystrophy30.4EMD, LMNA
6muscular dystrophy30.3CAPN3, EMD, LMNA
7acquired generalized lipodystrophy30.2LEP, RETN, ADIPOQ
8congenital generalized lipodystrophy type 230.2LMNA, ADIPOQ, PPARG, INS, LEP
9vascular disease30.1PPARG, RETN, ADIPOQ, APOE, INS
10hypertriglyceridemia30.1LEP, INS, PPARG, ADIPOQ, APOE
11obesity30.0RBP4, PPARGC1A, PPARG, RETN, ADIPOQ, LMNA
12diabetes mellitus29.8RBP4, APOE, ADIPOQ, RETN, LMNA, TNF
13atherosclerosis29.8ADIPOQ, LMNA, APOE, TNF, LEP, INS
14lipodystrophy, familial partial, type 210.6
15familial partial lipodystrophy, kobberling type10.6
16familial partial lipodystrophy type 310.5
17familial partial lipodystrophy type 410.5
18insulin resistance, severe, digenic10.4
19sleep apnea10.3
20lipodystrophy, familial partial, type 510.3
21familial partial lipodystrophy due to akt2 mutations10.3
22focal segmental glomerulosclerosis10.1
23lipoatrophic diabetes10.1
24eclampsia10.1
25glomerulonephritis10.1
26glomerulosclerosis10.1
27hepatitis10.1
28hyperaldosteronism10.1
29pre-eclampsia10.1
30thyroiditis10.1
31euthyroid sick syndrome10.1DIO1
32rabson-mendenhall syndrome10.1INS
33charcot-marie-tooth neuropathy type 210.1LMNA
34thyrotoxicosis10.1INS
35emery-dreifuss muscular dystrophy 2, ad10.1LMNA, EMD
36calcinosis10.1LMNA
37calpainopathy10.1LMNA, CAPN3
38progeria10.1EMD, LMNA, BANF1
39limb-girdle muscular dystrophy10.1CAPN3, LMNA, EMD
40neuromuscular disease10.1EMD, CAPN3, LMNA
41keratomalacia10.1RARB, RBP4
42morbid obesity10.1LEP, INS
43protein-energy malnutrition10.1LEP, RBP4
44vascular dementia10.1APOE
45fetal macrosomia10.1INS, LEP
46bulimia nervosa10.1RETN, LEP
47follicular thyroid carcinoma10.1DIO2, PPARG
48noonan syndrome10.0EMD, LMNA, PPARGC1A
49amyotrophic lateral sclerosis10.0CAPN3
50anovulation10.0INS, LEP

Graphical network of the top 20 diseases related to Familial Partial Lipodystrophy:



Diseases related to familial partial lipodystrophy

Symptoms for Familial Partial Lipodystrophy

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47OMIM
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Clinical features from OMIM:

151660,604367

Drugs & Therapeutics for Familial Partial Lipodystrophy

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Familial Partial Lipodystrophy

Search NIH Clinical Center for Familial Partial Lipodystrophy

Genetic Tests for Familial Partial Lipodystrophy

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22GTR
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Genetic tests related to Familial Partial Lipodystrophy:

id Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy22

Anatomical Context for Familial Partial Lipodystrophy

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33MalaCards
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MalaCards organs/tissues related to Familial Partial Lipodystrophy:

33
Skin, Skeletal muscle, Adipocyte, Thyroid, Breast

Animal Models for Familial Partial Lipodystrophy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Familial Partial Lipodystrophy:

37 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.5SUMO1, RBP4, INS, PPARG, LMNA, CAPN3
2MP:00020068.1ADIPOQ, TNF, LEP, PPARGC1A, PPARG
3MP:00030127.9INS, TNF, SLC16A2, CAPN3, PPARG, APOE
4MP:00053717.7RARB, LEP, TNF, APOE, LMNA
5MP:00053677.6PPARG, INS, LEP, LMNA, ADIPOQ, DIO2
6MP:00053917.4RARB, PPARG, RBP4, LMNA, APOE, TNF
7MP:00107717.3APOE, TNF, SLC16A2, ADIPOQ, LMNA, LEP
8MP:00053887.3APOE, ADIPOQ, LMNA, TNF, LEP, PPARGC1A
9MP:00053707.0INS, LEP, TNF, APOE, ADIPOQ, RETN
10MP:00053907.0ADIPOQ, DIO2, APOE, PPARG, TNF, INS
11MP:00053976.9RARB, LMNA, ADIPOQ, APOE, TNF, LEP
12MP:00036316.9LMNA, APOE, RARB, TNF, LEP, INS
13MP:00053816.8INS, SUMO1, RARB, LMNA, PPARGC1A, DIO1
14MP:00053756.8APOE, RETN, DIO2, ADIPOQ, LMNA, TNF
15MP:00053876.8INS, PPARG, SLC16A2, TNF, LEP, APOE
16MP:00053896.7RBP4, PPARG, INS, LEP, TNF, APOE
17MP:00053866.6APOE, TNF, LEP, INS, PPARGC1A, PPARG
18MP:00053796.2PPARG, PPARGC1A, INS, LEP, TNF, APOE
19MP:00053696.2LMNA, RBP4, RARB, CAPN3, PPARG, ADIPOQ
20MP:00053856.1LMNA, ADIPOQ, CAPN3, RARB, EMD, APOE
21MP:00053845.9LMNA, EMD, DIO3, SUMO1, TNF, LEP
22MP:00107685.9INS, LEP, TNF, APOE, SUMO1, LMNA
23MP:00053785.6ADIPOQ, LMNA, TNF, LEP, INS, PPARG
24MP:00053765.2DIO2, DIO1, RETN, CAPN3, RBP4, SLC16A2

Publications for Familial Partial Lipodystrophy

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52PubMed
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Articles related to Familial Partial Lipodystrophy:

(show top 50)    (show all 82)
idTitleAuthorsYear
1
Increased skeletal muscle volume in women with familial partial lipodystrophy, Dunnigan variety. (23783098)
2013
2
Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations. (23243001)
2013
3
Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family. (24002959)
2013
4
A new method for body fat evaluation, body adiposity index, is useful in women with familial partial lipodystrophy. (22095113)
2012
5
Quantitative whole-body MRI in familial partial lipodystrophy type 2: changes in adipose tissue distribution coincide with biochemical improvement. (23096204)
2012
6
Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations. (21883346)
2012
7
Vascular placental abnormalities and newborn death in a pregnant diabetic woman with familial partial lipodystrophy type 3: a possible role for peroxisome proliferator-activated receptor I^. (22559930)
2012
8
Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene. (22276265)
2012
9
Characterisation of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-associated PPARI^ mutation (Y151C). (21479595)
2011
10
Surgical management of phenotypic alterations related to the Dunnigan variety of familial partial lipodystrophy. (21561824)
2011
11
Successful treatment for the Dunnigan-type familial partial lipodystrophy with Roux-en-Y gastric bypass. (21521325)
2011
12
Breast augmentation in Familial Partial Lipodystrophy: a case report. (21306965)
2011
13
Regional decrease of subcutaneous adipose tissue in patients with type 2 familial partial lipodystrophy is associated with changes in thyroid hormone metabolism. (20373986)
2010
14
A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features. (21031082)
2010
15
Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations. (20041886)
2010
16
Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family. (20625965)
2010
17
Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy. (19793595)
2009
18
A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C (LMNA) mutations complicated by end-stage renal disease. (19011997)
2009
19
Predicting abdominal adipose tissue among women with familial partial lipodystrophy. (19375764)
2009
20
Structure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPLD). (19574635)
2009
21
The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. (19201734)
2009
22
Obstructive sleep apnea in familial partial lipodystrophy type 2 with atypical skin findings and vascular disease. (19418082)
2009
23
Comparison of phenotypes in male and female individuals of a new family with Dunnigan type of familial partial lipodystrophy due to a lamin A/C R482W mutation. (19204888)
2009
24
Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy. (18364375)
2008
25
Obstructive sleep apnea in 2 women with familial partial lipodystrophy due to a heterozygous LMNA R482Q mutation. (17893350)
2007
26
Muscle and nerve pathology in Dunnigan familial partial lipodystrophy. (17325275)
2007
27
Long-term efficacy of leptin replacement in patients with Dunnigan-type familial partial lipodystrophy. (17379009)
2007
28
Familial partial lipodystrophy due to the LMNA R482W mutation with multinodular goitre, extrapyramidal syndrome and primary hyperaldosteronism. (17524034)
2007
29
A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2. (16636128)
2006
30
Effectiveness of gastric bypass surgery in a patient with familial partial lipodystrophy. (16732025)
2006
31
A frameshift mutation in peroxisome-proliferator-activated receptor-gamma in familial partial lipodystrophy subtype 3 (FPLD3; MIM 604367). (16965332)
2006
32
Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. (16415042)
2006
33
An imaging study of body composition including lipodeposition pattern in a patient of familial partial lipodystrophy (Dunnigan type). (16459536)
2005
34
Adipokines and the insulin resistance syndrome in familial partial lipodystrophy caused by a mutation in lamin A/C. (16320084)
2005
35
Familial partial lipodystrophy complicated by pre-eclampsia. (15814388)
2005
36
Mesangiocapillary glomerulonephritis type 2 associated with familial partial lipodystrophy (Dunnigan-Kobberling syndrome). (14988595)
2004
37
Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene. (15298354)
2004
38
Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation. (12669268)
2003
39
Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene. (14510863)
2003
40
Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription. (14597414)
2003
41
Post-mortem findings in familial partial lipodystrophy, Dunnigan variety. (12647844)
2002
42
Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. (11836320)
2002
43
Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene. (11231979)
2001
44
Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene. (11344241)
2001
45
Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). (10843151)
2000
46
Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. (10739751)
2000
47
Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy. (11078466)
2000
48
Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). (9920078)
1999
49
Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22. (9500556)
1998
50
Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state. (3712389)
1986

Variations for Familial Partial Lipodystrophy

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Familial Partial 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 Familial Partial Lipodystrophy

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Partial Lipodystrophy

Search GEO for disease gene expression data for Familial Partial Lipodystrophy.

Pathways for genes affiliated with Familial Partial Lipodystrophy

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50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG, 60Thomson Reuters, 51PharmGKB, 5Cell Signaling Technology, 53QIAGEN, 54R&D Systems
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Pathways related to Familial Partial Lipodystrophy according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8BANF1, EMD, LMNA
2
Show member pathways
9.8LMNA, BANF1, EMD
3
Show member pathways
thyronamine and iodothyronamine metabolism38
9.7DIO2, DIO3
4
Show member pathways
9.7RBP4, INS, PPARG
59.5DIO2, DIO3, DIO1
6
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.2TNF, EMD, LMNA
79.2DIO3, DIO2, SLC16A2, DIO1
8
Show member pathways
FAS pathway and Stress induction of HSP regulation38
Apoptosis and survival FAS signaling cascades60
Caspase cascade in apoptosis38
9.1SUMO1, TNF, LMNA
99.1PPARG, TNF, SUMO1
10
Show member pathways
8.8TNF, ADIPOQ, INS
11
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
8.8INS, PPARG, TNF, PPARGC1A
12
Show member pathways
8.7TNF, BANF1, LMNA, EMD, INS
138.4PPARG, APOE, INS, PPARGC1A, ADIPOQ
14
Show member pathways
thioredoxin pathway38
8.4INS, DIO2, DIO3, DIO1, TNF
158.3PPARGC1A, ADIPOQ, TNF, LEP
16
Show member pathways
8.1TNF, ADIPOQ, LEP, PPARGC1A, PPARG
17
Show member pathways
8.1LEP, INS, PPARGC1A, RARB, TNF
18
Show member pathways
8.0DIO1, PPARG, DIO3, APOE, INS, PPARGC1A
19
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
7.8INS, LEP, TNF, ADIPOQ, RETN, RBP4
20
Show member pathways
7.8LEP, INS, PPARGC1A, PPARG, TNF, ADIPOQ
21
Show member pathways
7.8TNF, LEP, PPARG, INS, ADIPOQ, PPARGC1A
227.3PPARGC1A, LMNA, ADIPOQ, RETN, LEP, INS

Compounds for genes affiliated with Familial Partial Lipodystrophy

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

(show top 50)    (show all 146)
idCompoundScoreTop Affiliating Genes
1Thyroxine sulfate249.9DIO1, DIO2, DIO3
2glimepiride45 51 1111.5RETN, PPARG, INS, ADIPOQ
3telmisartan45 29 1111.3ADIPOQ, LEP, INS, PPARG
4orlistat45 61 1111.3ADIPOQ, LEP, PPARG, INS
5stavudine45 1110.2LEP, ADIPOQ, PPARG
6dehydroepiandrosterone sulfate459.1ADIPOQ, RBP4, INS, LEP
7thiazolidinedione459.1PPARG, LEP, RETN, INS, ADIPOQ
8bezafibrate45 29 1111.1ADIPOQ, INS, PPARG, APOE
9ritonavir45 51 1111.1INS, PPARG, APOE, ADIPOQ
10c-peptide459.0LEP, ADIPOQ, RETN, INS
11aicar45 24 1111.0PPARGC1A, ADIPOQ, LEP, PPARG, INS
12uric acid45 2410.0INS, ADIPOQ, RETN, LEP, RBP4
13triiodothyronine458.9DIO2, SLC16A2, RBP4, DIO1, DIO3, LEP
14dhea458.9RETN, ADIPOQ, LEP, INS
15sibutramine45 119.9ADIPOQ, INS, LEP
16betacarotene458.8APOE, RARB, RBP4, LEP
17palmitate458.8PPARGC1A, PPARG, APOE, ADIPOQ, INS
18metformin45 51 1110.7INS, LEP, PPARGC1A, PPARG, RETN, ADIPOQ
19glibenclamide45 29 51 6111.7APOE, LEP, INS, ADIPOQ
20ciglitazone45 299.7APOE, RARB, TNF, PPARG
21losartan45 51 29 1111.7ADIPOQ, APOE, LEP, PPARG
22olanzapine45 51 29 24 1112.7ADIPOQ, INS, LEP, APOE
23nash458.5ADIPOQ, LEP, INS, TNF, RETN
248-isoprostane458.5LEP, INS, TNF, ADIPOQ, RETN
25troglitazone45 29 61 1111.5INS, PPARG, LEP, TNF, ADIPOQ
26fatty acid458.4INS, RBP4, PPARGC1A, RETN, PPARG, ADIPOQ
27atorvastatin45 51 29 24 1112.3APOE, RETN, ADIPOQ, PPARG, TNF
28triacylglycerol458.3LEP, INS, APOE, ADIPOQ, RBP4, PPARGC1A
29sterol458.3PPARGC1A, APOE, EMD, ADIPOQ, RETN, SUMO1
30simvastatin45 51 61 29 24 1113.3ADIPOQ, APOE, RBP4, TNF, PPARG
31vitamin a45 24 1110.3RETN, LEP, RARB, RBP4, APOE, ADIPOQ
32glucose458.3INS, LEP, LMNA, ADIPOQ, DIO2, RETN
33ly294002458.2RETN, ADIPOQ, TNF, LEP, INS, PPARG
34prostacyclin458.1PPARG, LEP, TNF, ADIPOQ, APOE
35pioglitazone29 45 51 1111.0RETN, ADIPOQ, TNF, LEP, RBP4, INS
36creatinine458.0RETN, APOE, INS, LEP, ADIPOQ, LMNA
37cycloheximide457.8RETN, PPARG, TNF, APOE, LEP, DIO2
38alanine457.7RBP4, RETN, DIO3, ADIPOQ, LMNA, APOE
39fenofibrate45 51 119.7LEP, INS, PPARG, RETN, ADIPOQ, APOE
40cholesterol45 29 24 1110.7ADIPOQ, PPARG, RBP4, PPARGC1A, RETN, INS
41cysteine457.6LEP, APOE, DIO3, DIO2, RETN, DIO1
42arginine457.6RARB, LEP, LMNA, INS, ADIPOQ, PPARGC1A
43retinoic acid45 248.5RBP4, PPARGC1A, TNF, RARB, DIO2, ADIPOQ
44testosterone45 61 24 1110.1RETN, RBP4, RARB, PPARG, ADIPOQ, SUMO1
45thyroxine45 248.0PPARG, INS, LEP, ADIPOQ, SLC16A2, DIO2
46serine456.9PPARGC1A, INS, APOE, LMNA, ADIPOQ, DIO2
47estrogen456.9ADIPOQ, PPARG, PPARGC1A, INS, LEP, APOE
48dexamethasone45 51 29 119.5INS, RETN, DIO2, DIO3, RARB, RBP4
49rosiglitazone29 45 51 24 1110.5LMNA, PPARG, ADIPOQ, TNF, PPARGC1A, INS
50lipid456.1RBP4, PPARG, PPARGC1A, INS, LEP, TNF

GO Terms for genes affiliated with Familial Partial Lipodystrophy

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16Gene Ontology
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Cellular components related to Familial Partial Lipodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:0056548.4BANF1, RARB, LMNA, SUMO1, PPARGC1A, PPARG
2extracellular regionGO:0055767.5INS, LEP, TNF, APOE, ADIPOQ, RBP4
3extracellular spaceGO:0056157.1APOE, TNF, INS, ADIPOQ, RETN, RBP4

Biological processes related to Familial Partial Lipodystrophy according to GeneCards/GeneDecks:

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of acute inflammatory responseGO:00267410.3PPARG, INS
2positive regulation of fatty acid oxidationGO:04632110.3PPARGC1A, PPARG
3mitotic nuclear envelope reassemblyGO:00708410.3EMD, LMNA, BANF1
4negative regulation of feeding behaviorGO:200025210.2INS, RETN
5mitotic nuclear envelope disassemblyGO:00707710.2BANF1, LMNA, EMD
6response to muscle activityGO:01485010.2PPARGC1A, CAPN3
7muscle organ developmentGO:00751710.1EMD, LMNA, CAPN3
8positive regulation of insulin receptor signaling pathwayGO:04662810.0LEP, INS
9negative regulation of gluconeogenesisGO:04572110.0ADIPOQ, INS
10negative regulation of cartilage developmentGO:06103710.0RARB, LEP
11negative regulation of macrophage derived foam cell differentiationGO:01074510.0PPARG, ADIPOQ
12hormone biosynthetic processGO:0424469.9DIO1, DIO2, DIO3
13thyroid hormone generationGO:0065909.9DIO1, DIO2, DIO3
14positive regulation of cellular protein metabolic processGO:0322709.9ADIPOQ, INS
15fatty acid oxidationGO:0193959.8PPARG, PPARGC1A, ADIPOQ
16brown fat cell differentiationGO:0508739.8PPARG, PPARGC1A, ADIPOQ
17response to retinoic acidGO:0325269.8PPARG, APOE, RBP4
18response to dietary excessGO:0020219.8APOE, LEP
19regulation of I-kappaB kinase/NF-kappaB signalingGO:0431229.7TNF, CAPN3
20positive regulation of nitric-oxide synthase activityGO:0510009.7INS, APOE
21positive regulation of synaptic transmissionGO:0508069.7TNF, RETN
22positive regulation of cholesterol effluxGO:0108759.6APOE, ADIPOQ
23glucose homeostasisGO:0425939.6PPARG, INS, ADIPOQ, RBP4
24positive regulation of protein complex assemblyGO:0313349.5TNF, SUMO1
25leukocyte tethering or rollingGO:0509019.5LEP, TNF
26negative regulation of lipid catabolic processGO:0509959.5INS, TNF
27response to ethanolGO:0454719.4APOE, ADIPOQ, RBP4
28positive regulation of smooth muscle cell proliferationGO:0486619.4PPARGC1A, TNF, RETN
29positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.4TNF, PPARGC1A, PPARG
30positive regulation of cytokine secretionGO:0507159.3TNF, INS
31embryonic digestive tract developmentGO:0485669.3TNF, RARB
32response to insulinGO:0328689.3RBP4, RETN, APOE, LEP
33positive regulation of membrane protein ectodomain proteolysisGO:0510449.3TNF, APOE
34regulation of insulin secretionGO:0507969.2INS, LEP, TNF
35positive regulation of cytokine productionGO:0018199.2TNF, LEP
36positive regulation of NF-kappaB transcription factor activityGO:0510929.2CAPN3, TNF, INS
37glucose metabolic processGO:0060068.8ADIPOQ, TNF, LEP, INS
38negative regulation of transcription, DNA-templatedGO:0458928.7CAPN3, ADIPOQ, SUMO1, TNF, PPARG
39response to hypoxiaGO:0016668.6ADIPOQ, TNF, LEP
40positive regulation of transcription, DNA-templatedGO:0458938.5PPARG, PPARGC1A, TNF, CAPN3

Molecular functions related to Familial Partial Lipodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1selenium bindingGO:0084309.9DIO2, DIO1
2thyroxine 5-deiodinase activityGO:0048009.6DIO1, DIO2, DIO3
3retinoid X receptor bindingGO:0469659.6RARB, PPARG
4hormone activityGO:0051799.0INS, LEP, ADIPOQ, RETN
5identical protein bindingGO:0428028.2ADIPOQ, APOE, TNF, INS
6protein bindingGO:0055155.7PPARG, PPARGC1A, INS, TNF, APOE, EMD

Products for genes affiliated with Familial Partial Lipodystrophy

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Sources for Familial Partial 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