MCID: FML012
MIFTS: 61

Familial Partial Lipodystrophy malady

Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Fetal diseases categories

Summaries for Familial Partial Lipodystrophy

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Disease Ontology:9 A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.

MalaCards based summary: Familial Partial Lipodystrophy, also known as familial partial lipodystrophy, type 2, is related to mandibuloacral dysplasia and lipodystrophy. 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.

Wikipedia:64 Familial partial lipodystrophy (also known as \"K more...

Descriptions from OMIM:46 608600,615238,151660,604367,613877

Aliases & Classifications for Familial Partial Lipodystrophy

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Familial Partial Lipodystrophy, Aliases & Descriptions:

Name: Familial Partial Lipodystrophy 9 42 23 61
Familial Partial Lipodystrophy, Type 2 61
Lipodystrophy, Familial Partial 44
 
Koberling-Dunnigan Syndrome 9
Dunnigan Syndrome 9


Classifications:



External Ids:

Disease Ontology9 DOID:0050440
MeSH34 D052496

Related Diseases for Familial Partial Lipodystrophy

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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
1mandibuloacral dysplasia31.3LMNA
2lipodystrophy31.1PPARG, INS, LEP, EMD, LMNA, ADIPOQ
3obstructive sleep apnea30.7ADIPOQ, LEP
4vascular disease29.7PPARG, INS, APOE, ADIPOQ, RETN
5hypertriglyceridemia29.6PPARG, INS, LEP, APOE, ADIPOQ
6insulin resistance29.2RBP4, CAPN3, PPARG, PPARGC1A, INS, LEP
7atherosclerosis28.7PPARG, PPARGC1A, INS, LEP, TNF, APOE
8obesity28.6RBP4, PPARGC1A, INS, LEP, TNF, APOE
9diabetes mellitus28.5PPARG, PPARGC1A, INS, LEP, TNF, APOE
10lipodystrophy, familial partial, type 210.6
11familial partial lipodystrophy, kobberling type10.6
12euthyroid sick syndrome10.5DIO1
13familial partial lipodystrophy type 310.5
14familial partial lipodystrophy type 410.5
15rabson-mendenhall syndrome10.5INS
16thyrotoxicosis10.5INS
17emery-dreifuss muscular dystrophy 2, ad10.5EMD, LMNA
18charcot-marie-tooth neuropathy type 210.4LMNA
19emery-dreifuss muscular dystrophy10.4EMD, LMNA
20calcinosis10.4LMNA
21calpainopathy10.4CAPN3, LMNA
22insulin resistance, severe, digenic10.4
23progeria10.4EMD, LMNA, BANF1
24limb-girdle muscular dystrophy10.3EMD, LMNA, CAPN3
25neuromuscular disease10.3CAPN3, LMNA, EMD
26muscular dystrophy10.3EMD, LMNA, CAPN3
27keratomalacia10.3RARB, RBP4
28sleep apnea10.3
29lipodystrophy, familial partial, type 510.3
30familial partial lipodystrophy due to akt2 mutations10.3
31morbid obesity10.3INS, LEP
32protein-energy malnutrition10.3LEP, RBP4
33vascular dementia10.3APOE
34fetal macrosomia10.2INS, LEP
35follicular thyroid carcinoma10.2PPARG, DIO2
36bulimia nervosa10.2RETN, LEP
37noonan syndrome10.2PPARGC1A, EMD, LMNA
38amyotrophic lateral sclerosis type 1410.2CAPN3
39anovulation10.2LEP, INS
40neuropathy10.2INS, EMD, LMNA, CAPN3
41eating disorder10.2INS, LEP
42myopathy10.2INS, EMD, LMNA, CAPN3
43amenorrhea10.2INS, LEP
44prediabetes syndrome10.2ADIPOQ, INS, PPARG
45idiopathic edema10.2ADIPOQ, INS, PPARG
46focal segmental glomerulosclerosis10.1
47follicular lymphoma10.1
48glomerulonephritis10.1
49hepatitis10.1
50eclampsia10.1

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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Clinical features from OMIM:

608600,615238,151660,604367,613877

Drugs & Therapeutics for Familial Partial Lipodystrophy

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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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Genetic tests related to Familial Partial Lipodystrophy:

id Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy23

Anatomical Context for Familial Partial Lipodystrophy

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MalaCards organs/tissues related to Familial Partial Lipodystrophy:

32
Skin, Skeletal muscle, Adipocyte, Thyroid, Breast

Animal Models for Familial Partial Lipodystrophy or affiliated genes

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MGI Mouse Phenotypes related to Familial Partial Lipodystrophy:

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

Publications for Familial Partial Lipodystrophy

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Articles related to Familial Partial Lipodystrophy:

(show top 50)    (show all 87)
idTitleAuthorsYear
1
Structural basis of the transactivation deficiency of the human PPARI^ F360L mutant associated with familial partial lipodystrophy. (25004973)
2014
2
Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy. (25114292)
2014
3
Increased skeletal muscle volume in women with familial partial lipodystrophy, Dunnigan variety. (23783098)
2013
4
Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations. (23243001)
2013
5
A new method for body fat evaluation, body adiposity index, is useful in women with familial partial lipodystrophy. (22095113)
2012
6
Quantitative whole-body MRI in familial partial lipodystrophy type 2: changes in adipose tissue distribution coincide with biochemical improvement. (23096204)
2012
7
Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations. (21883346)
2012
8
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
9
Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene. (22276265)
2012
10
Characterisation of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-associated PPARI^ mutation (Y151C). (21479595)
2011
11
Surgical management of phenotypic alterations related to the Dunnigan variety of familial partial lipodystrophy. (21561824)
2011
12
Successful treatment for the Dunnigan-type familial partial lipodystrophy with Roux-en-Y gastric bypass. (21521325)
2011
13
Breast augmentation in Familial Partial Lipodystrophy: a case report. (21306965)
2011
14
Regional decrease of subcutaneous adipose tissue in patients with type 2 familial partial lipodystrophy is associated with changes in thyroid hormone metabolism. (20373986)
2010
15
A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features. (21031082)
2010
16
Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations. (20041886)
2010
17
Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family. (20625965)
2010
18
Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy. (19793595)
2009
19
A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C (LMNA) mutations complicated by end-stage renal disease. (19011997)
2009
20
Predicting abdominal adipose tissue among women with familial partial lipodystrophy. (19375764)
2009
21
Structure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPLD). (19574635)
2009
22
The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. (19201734)
2009
23
Obstructive sleep apnea in familial partial lipodystrophy type 2 with atypical skin findings and vascular disease. (19418082)
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
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). (17250669)
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
Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: efficacy of rosiglitazone. (16241930)
2005
35
Adipokines and the insulin resistance syndrome in familial partial lipodystrophy caused by a mutation in lamin A/C. (16320084)
2005
36
Familial partial lipodystrophy complicated by pre-eclampsia. (15814388)
2005
37
Mesangiocapillary glomerulonephritis type 2 associated with familial partial lipodystrophy (Dunnigan-Kobberling syndrome). (14988595)
2004
38
Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene. (15298354)
2004
39
Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation. (12669268)
2003
40
Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene. (14510863)
2003
41
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
42
Post-mortem findings in familial partial lipodystrophy, Dunnigan variety. (12647844)
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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Clinvar genetic disease variations for Familial Partial Lipodystrophy:

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 Familial Partial Lipodystrophy

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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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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, LMNA, EMD
2
Show member pathways
9.8BANF1, LMNA, EMD
3
Show member pathways
thyronamine and iodothyronamine metabolism37
9.7DIO2, DIO3
4
Show member pathways
9.7PPARG, INS, RBP4
59.5DIO1, DIO2, DIO3
6
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.2LMNA, EMD, TNF
79.2DIO3, DIO2, DIO1, SLC16A2
8
Show member pathways
FAS pathway and Stress induction of HSP regulation37
Apoptosis and survival FAS signaling cascades59
Caspase cascade in apoptosis37
9.1LMNA, SUMO1, TNF
99.1PPARG, TNF, SUMO1
10
Show member pathways
8.8ADIPOQ, TNF, INS
11
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
8.8TNF, INS, PPARGC1A, PPARG
12
Show member pathways
8.7INS, TNF, EMD, LMNA, BANF1
138.4PPARG, PPARGC1A, INS, APOE, ADIPOQ
14
Show member pathways
thioredoxin pathway37
8.4INS, TNF, DIO3, DIO2, DIO1
158.3PPARGC1A, LEP, TNF, ADIPOQ
16
Show member pathways
8.1PPARG, PPARGC1A, LEP, TNF, ADIPOQ
17
Show member pathways
8.1PPARGC1A, INS, LEP, TNF, RARB
18
Show member pathways
8.0PPARG, PPARGC1A, INS, APOE, DIO3, DIO2
19
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes59
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway59
7.8INS, LEP, TNF, ADIPOQ, RETN, RBP4
20
Show member pathways
7.8PPARG, PPARGC1A, INS, LEP, TNF, ADIPOQ
21
Show member pathways
7.8PPARG, PPARGC1A, INS, LEP, TNF, ADIPOQ
227.3RETN, PPARG, PPARGC1A, INS, LEP, TNF

Compounds for genes affiliated with Familial Partial Lipodystrophy

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Compounds related to Familial Partial Lipodystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 146)
idCompoundScoreTop Affiliating Genes
1Thyroxine sulfate259.9DIO1, DIO2, DIO3
2glimepiride44 50 1211.5RETN, PPARG, INS, ADIPOQ
3telmisartan44 29 1211.3ADIPOQ, LEP, INS, PPARG
4orlistat44 60 1211.3ADIPOQ, LEP, PPARG, INS
5stavudine44 1210.2LEP, ADIPOQ, PPARG
6dehydroepiandrosterone sulfate449.1ADIPOQ, RBP4, INS, LEP
7thiazolidinedione449.1PPARG, LEP, RETN, INS, ADIPOQ
8bezafibrate44 29 1211.1ADIPOQ, INS, PPARG, APOE
9ritonavir44 50 1211.1INS, PPARG, APOE, ADIPOQ
10c-peptide449.0LEP, ADIPOQ, RETN, INS
11aicar44 25 1211.0PPARGC1A, ADIPOQ, LEP, PPARG, INS
12uric acid44 2510.0INS, ADIPOQ, RETN, LEP, RBP4
13triiodothyronine448.9DIO2, SLC16A2, RBP4, DIO1, DIO3, LEP
14dhea448.9RETN, ADIPOQ, LEP, INS
15sibutramine44 129.9ADIPOQ, INS, LEP
16betacarotene448.8APOE, RARB, RBP4, LEP
17palmitate448.8PPARGC1A, PPARG, APOE, ADIPOQ, INS
18metformin44 50 1210.7INS, LEP, PPARGC1A, PPARG, RETN, ADIPOQ
19glibenclamide44 29 50 6011.7APOE, LEP, INS, ADIPOQ
20ciglitazone44 299.7APOE, RARB, TNF, PPARG
21losartan44 50 29 1211.7ADIPOQ, APOE, LEP, PPARG
22olanzapine44 50 29 25 1212.7ADIPOQ, INS, LEP, APOE
23nash448.5ADIPOQ, LEP, INS, TNF, RETN
248-isoprostane448.5LEP, INS, TNF, ADIPOQ, RETN
25troglitazone44 29 60 1211.5INS, PPARG, LEP, TNF, ADIPOQ
26fatty acid448.4INS, RBP4, PPARGC1A, RETN, PPARG, ADIPOQ
27atorvastatin44 50 29 25 1212.3APOE, RETN, ADIPOQ, PPARG, TNF
28triacylglycerol448.3LEP, INS, APOE, ADIPOQ, RBP4, PPARGC1A
29sterol448.3PPARGC1A, APOE, EMD, ADIPOQ, RETN, SUMO1
30simvastatin44 50 60 29 25 1213.3ADIPOQ, APOE, RBP4, TNF, PPARG
31vitamin a44 25 1210.3RETN, LEP, RARB, RBP4, APOE, ADIPOQ
32glucose448.3INS, LEP, LMNA, ADIPOQ, DIO2, RETN
33ly294002448.2RETN, ADIPOQ, TNF, LEP, INS, PPARG
34prostacyclin448.1PPARG, LEP, TNF, ADIPOQ, APOE
35pioglitazone29 44 50 1211.0RETN, ADIPOQ, TNF, LEP, RBP4, INS
36creatinine448.0RETN, APOE, INS, LEP, ADIPOQ, LMNA
37cycloheximide447.8RETN, PPARG, TNF, APOE, LEP, DIO2
38alanine447.7RBP4, RETN, DIO3, ADIPOQ, LMNA, APOE
39fenofibrate44 50 129.7LEP, INS, PPARG, RETN, ADIPOQ, APOE
40cholesterol44 29 25 1210.7ADIPOQ, PPARG, RBP4, PPARGC1A, RETN, INS
41cysteine447.6LEP, APOE, DIO3, DIO2, RETN, DIO1
42arginine447.6RARB, LEP, LMNA, INS, ADIPOQ, PPARGC1A
43retinoic acid44 258.5RBP4, PPARGC1A, TNF, RARB, DIO2, ADIPOQ
44testosterone44 60 25 1210.1RETN, RBP4, RARB, PPARG, ADIPOQ, SUMO1
45thyroxine44 258.0PPARG, INS, LEP, ADIPOQ, SLC16A2, DIO2
46serine446.9PPARGC1A, INS, APOE, LMNA, ADIPOQ, DIO2
47estrogen446.9ADIPOQ, PPARG, PPARGC1A, INS, LEP, APOE
48dexamethasone44 50 29 129.5INS, RETN, DIO2, DIO3, RARB, RBP4
49rosiglitazone29 44 50 25 1210.5LMNA, PPARG, ADIPOQ, TNF, PPARGC1A, INS
50lipid446.1RBP4, PPARG, PPARGC1A, INS, LEP, TNF

GO Terms for genes affiliated with Familial Partial Lipodystrophy

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

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

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
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