MCID: FML012
MIFTS: 52

Familial Partial Lipodystrophy malady

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

Aliases & Classifications for Familial Partial Lipodystrophy

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Familial Partial Lipodystrophy, Aliases & Descriptions:

Name: Familial Partial Lipodystrophy 9 41 60
Lipodystrophy, Familial Partial 43 22
Familial Partial Lipodystrophy, Type 2 60
 
Koberling-Dunnigan Syndrome 9
Dunnigan Syndrome 9


Classifications:



External Ids:

Disease Ontology9 DOID:0050440
MeSH33 D052496

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 lipodystrophy, familial partial, 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 skeletal muscle, adipocyte and thyroid, and related mouse phenotypes are normal and tumorigenesis.

Wikipedia:63 Familial partial lipodystrophy (also known as \"K more...

Related Diseases for Familial Partial Lipodystrophy

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Diseases in the Familial Partial Lipodystrophy family:

Lipodystrophy, Familial Partial, Type 5 Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Familial Partial, Type 4 Lipodystrophy, Partial, Acquired
Lipodystrophy, Familial Partial, Type 6 Lipodystrophy, Familial Partial, 2
Familial Partial Lipodystrophy Due to Akt2 Mutations

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

(show top 50)    (show all 98)
idRelated DiseaseScoreTop Affiliating Genes
1mandibuloacral dysplasia31.3LMNA
2lipodystrophy31.1PPARG, INS, LEP, EMD, LMNA, ADIPOQ
3emery-dreifuss muscular dystrophy30.9EMD, LMNA
4muscular dystrophy30.7EMD, LMNA, CAPN3
5obstructive sleep apnea30.7ADIPOQ, LEP
6vascular disease29.7PPARG, INS, APOE, ADIPOQ, RETN
7hypertriglyceridemia29.6PPARG, INS, LEP, APOE, ADIPOQ
8atherosclerosis28.7PPARG, PPARGC1A, INS, LEP, TNF, APOE
9obesity28.6RBP4, PPARGC1A, INS, LEP, TNF, APOE
10lipodystrophy, familial partial, 210.7
11familial partial lipodystrophy, kobberling type10.6
12euthyroid sick syndrome10.5DIO1
13lipodystrophy, familial partial, type 510.5
14rabson-mendenhall syndrome10.5INS
15lipodystrophy, familial partial, type 310.5
16thyrotoxicosis10.4INS
17emery-dreifuss muscular dystrophy 2, ad10.4EMD, LMNA
18charcot-marie-tooth disease, type 2e10.4LMNA
19calcinosis10.4LMNA
20lipodystrophy, familial partial, type 610.4
21familial partial lipodystrophy due to akt2 mutations10.4
22calpainopathy10.4CAPN3, LMNA
23progeria10.4EMD, LMNA, BANF1
24limb-girdle muscular dystrophy10.3EMD, LMNA, CAPN3
25neuromuscular disease10.3CAPN3, LMNA, EMD
26lipodystrophy, familial partial, type 410.3
27sleep apnea10.3
28keratomalacia10.3RARB, RBP4
29morbid obesity10.3INS, LEP
30protein-energy malnutrition10.3LEP, RBP4
31vascular dementia10.2APOE
32fetal macrosomia10.2INS, LEP
33thyroid carcinoma, follicular10.2PPARG, DIO2
34bulimia nervosa10.2RETN, LEP
35noonan syndrome 110.2PPARGC1A, EMD, LMNA
36amyotrophic lateral sclerosis 110.2CAPN3
37anovulation10.2LEP, INS
38neuropathy10.2INS, EMD, LMNA, CAPN3
39eating disorder10.2INS, LEP
40myopathy10.2INS, EMD, LMNA, CAPN3
41amenorrhea10.2INS, LEP
42prediabetes syndrome10.2ADIPOQ, INS, PPARG
43lipodystrophy, congenital generalized, type 210.2
44focal segmental glomerulosclerosis10.2
45follicular lymphoma10.2
46glomerulonephritis10.2
47hepatitis10.2
48eclampsia10.2
49glomerulosclerosis10.2
50hyperaldosteronism10.2

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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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 Lipodystrophy22

Anatomical Context for Familial Partial Lipodystrophy

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MalaCards organs/tissues related to Familial Partial Lipodystrophy:

31
Skeletal muscle, Adipocyte, Thyroid, Breast, Skin

Animal Models for Familial Partial Lipodystrophy or affiliated genes

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MGI Mouse Phenotypes related to Familial Partial Lipodystrophy:

35 (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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Articles related to Familial Partial Lipodystrophy:

(show top 50)    (show all 93)
idTitleAuthorsYear
1
Erratum: Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation. (25774228)
2015
2
Evaluation of epicardial adipose tissue in familial partial lipodystrophy. (25859279)
2015
3
Structural basis of the transactivation deficiency of the human PPARI^ F360L mutant associated with familial partial lipodystrophy. (25004973)
2014
4
Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy. (25114292)
2014
5
Increased skeletal muscle volume in women with familial partial lipodystrophy, Dunnigan variety. (23783098)
2013
6
Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations. (23243001)
2013
7
A new method for body fat evaluation, body adiposity index, is useful in women with familial partial lipodystrophy. (22095113)
2012
8
Quantitative whole-body MRI in familial partial lipodystrophy type 2: changes in adipose tissue distribution coincide with biochemical improvement. (23096204)
2012
9
Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations. (21883346)
2012
10
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
11
Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene. (22276265)
2012
12
Characterisation of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-associated PPARI^ mutation (Y151C). (21479595)
2011
13
Surgical management of phenotypic alterations related to the Dunnigan variety of familial partial lipodystrophy. (21561824)
2011
14
Successful treatment for the Dunnigan-type familial partial lipodystrophy with Roux-en-Y gastric bypass. (21521325)
2011
15
Regional decrease of subcutaneous adipose tissue in patients with type 2 familial partial lipodystrophy is associated with changes in thyroid hormone metabolism. (20373986)
2010
16
A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features. (21031082)
2010
17
Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations. (20041886)
2010
18
Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family. (20625965)
2010
19
Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy. (19793595)
2009
20
A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C (LMNA) mutations complicated by end-stage renal disease. (19011997)
2009
21
Predicting abdominal adipose tissue among women with familial partial lipodystrophy. (19375764)
2009
22
Structure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPLD). (19574635)
2009
23
The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. (19201734)
2009
24
Obstructive sleep apnea in familial partial lipodystrophy type 2 with atypical skin findings and vascular disease. (19418082)
2009
25
Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy. (18364375)
2008
26
Obstructive sleep apnea in 2 women with familial partial lipodystrophy due to a heterozygous LMNA R482Q mutation. (17893350)
2007
27
Muscle and nerve pathology in Dunnigan familial partial lipodystrophy. (17325275)
2007
28
Long-term efficacy of leptin replacement in patients with Dunnigan-type familial partial lipodystrophy. (17379009)
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:

6
id Gene Variation 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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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 Suite gene sharing:

(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 metabolism36
9.7DIO2, DIO3
4
Show member pathways
9.7RBP4, INS, PPARG
59.5DIO2, DIO3, DIO1
6
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
9.2TNF, EMD, LMNA
79.2DIO3, DIO2, SLC16A2, DIO1
8
Show member pathways
FAS pathway and Stress induction of HSP regulation36
Apoptosis and survival FAS signaling cascades58
Caspase cascade in apoptosis36
9.1SUMO1, TNF, LMNA
99.1PPARG, TNF, SUMO1
10
Show member pathways
8.8TNF, ADIPOQ, INS
11
Show member pathways
Transcription Receptor mediated HIF regulation58
Development CNTF receptor signaling58
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades58
Translation Regulation activity of EIF258
Regulation of lipid metabolism Insulin signaling generic cascades58
Transcription PPAR Pathway58
Cell adhesion PLAU signaling58
Translation Regulation activity of EIF4F58
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 pathway36
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 Pathway36
Development Thrombopoietin regulated cell processes58
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway58
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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Compounds related to Familial Partial Lipodystrophy according to GeneCards Suite gene sharing:

(show top 50)    (show all 146)
idCompoundScoreTop Affiliating Genes
1Thyroxine sulfate249.9DIO1, DIO2, DIO3
2glimepiride43 49 1211.5RETN, PPARG, INS, ADIPOQ
3telmisartan43 28 1211.3ADIPOQ, LEP, INS, PPARG
4orlistat43 59 1211.3ADIPOQ, LEP, PPARG, INS
5stavudine43 1210.2LEP, ADIPOQ, PPARG
6dehydroepiandrosterone sulfate439.1ADIPOQ, RBP4, INS, LEP
7thiazolidinedione439.1PPARG, LEP, RETN, INS, ADIPOQ
8bezafibrate43 28 1211.1ADIPOQ, INS, PPARG, APOE
9ritonavir43 49 1211.1INS, PPARG, APOE, ADIPOQ
10c-peptide439.0LEP, ADIPOQ, RETN, INS
11aicar43 24 1211.0PPARGC1A, ADIPOQ, LEP, PPARG, INS
12uric acid43 2410.0INS, ADIPOQ, RETN, LEP, RBP4
13triiodothyronine438.9DIO2, SLC16A2, RBP4, DIO1, DIO3, LEP
14dhea438.9RETN, ADIPOQ, LEP, INS
15sibutramine43 129.9ADIPOQ, INS, LEP
16betacarotene438.8APOE, RARB, RBP4, LEP
17palmitate438.8PPARGC1A, PPARG, APOE, ADIPOQ, INS
18metformin43 49 1210.7INS, LEP, PPARGC1A, PPARG, RETN, ADIPOQ
19glibenclamide43 28 49 5911.7APOE, LEP, INS, ADIPOQ
20ciglitazone43 289.7APOE, RARB, TNF, PPARG
21losartan43 49 28 1211.7ADIPOQ, APOE, LEP, PPARG
22olanzapine43 49 28 24 1212.7ADIPOQ, INS, LEP, APOE
23nash438.5ADIPOQ, LEP, INS, TNF, RETN
248-isoprostane438.5LEP, INS, TNF, ADIPOQ, RETN
25troglitazone43 28 59 1211.5INS, PPARG, LEP, TNF, ADIPOQ
26fatty acid438.4INS, RBP4, PPARGC1A, RETN, PPARG, ADIPOQ
27atorvastatin43 49 28 24 1212.3APOE, RETN, ADIPOQ, PPARG, TNF
28triacylglycerol438.3LEP, INS, APOE, ADIPOQ, RBP4, PPARGC1A
29sterol438.3PPARGC1A, APOE, EMD, ADIPOQ, RETN, SUMO1
30simvastatin43 49 59 28 24 1213.3ADIPOQ, APOE, RBP4, TNF, PPARG
31vitamin a43 24 1210.3RETN, LEP, RARB, RBP4, APOE, ADIPOQ
32glucose438.3INS, LEP, LMNA, ADIPOQ, DIO2, RETN
33ly294002438.2RETN, ADIPOQ, TNF, LEP, INS, PPARG
34prostacyclin438.1PPARG, LEP, TNF, ADIPOQ, APOE
35pioglitazone28 43 49 1211.0RETN, ADIPOQ, TNF, LEP, RBP4, INS
36creatinine438.0RETN, APOE, INS, LEP, ADIPOQ, LMNA
37cycloheximide437.8RETN, PPARG, TNF, APOE, LEP, DIO2
38alanine437.7RBP4, RETN, DIO3, ADIPOQ, LMNA, APOE
39fenofibrate43 49 129.7LEP, INS, PPARG, RETN, ADIPOQ, APOE
40cholesterol43 28 24 1210.7ADIPOQ, PPARG, RBP4, PPARGC1A, RETN, INS
41cysteine437.6LEP, APOE, DIO3, DIO2, RETN, DIO1
42arginine437.6RARB, LEP, LMNA, INS, ADIPOQ, PPARGC1A
43retinoic acid43 248.5RBP4, PPARGC1A, TNF, RARB, DIO2, ADIPOQ
44testosterone43 59 24 1210.1RETN, RBP4, RARB, PPARG, ADIPOQ, SUMO1
45thyroxine43 248.0PPARG, INS, LEP, ADIPOQ, SLC16A2, DIO2
46serine436.9PPARGC1A, INS, APOE, LMNA, ADIPOQ, DIO2
47estrogen436.9ADIPOQ, PPARG, PPARGC1A, INS, LEP, APOE
48dexamethasone43 49 28 129.5INS, RETN, DIO2, DIO3, RARB, RBP4
49rosiglitazone28 43 49 24 1210.5LMNA, PPARG, ADIPOQ, TNF, PPARGC1A, INS
50lipid436.1RBP4, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00056548.4BANF1, RARB, LMNA, SUMO1, PPARGC1A, PPARG
2extracellular regionGO:00055767.5INS, LEP, TNF, APOE, ADIPOQ, RBP4
3extracellular spaceGO:00056157.1APOE, TNF, INS, ADIPOQ, RETN, RBP4

Biological processes related to Familial Partial Lipodystrophy according to GeneCards Suite gene sharing:

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of acute inflammatory responseGO:000267410.3INS, PPARG
2positive regulation of fatty acid oxidationGO:004632110.3PPARGC1A, PPARG
3mitotic nuclear envelope reassemblyGO:000708410.3LMNA, EMD, BANF1
4negative regulation of feeding behaviorGO:0200025210.2INS, RETN
5mitotic nuclear envelope disassemblyGO:000707710.2BANF1, LMNA, EMD
6response to muscle activityGO:001485010.2CAPN3, PPARGC1A
7muscle organ developmentGO:000751710.1CAPN3, LMNA, EMD
8positive regulation of insulin receptor signaling pathwayGO:004662810.0LEP, INS
9negative regulation of gluconeogenesisGO:004572110.0INS, ADIPOQ
10negative regulation of cartilage developmentGO:006103710.0LEP, RARB
11negative regulation of macrophage derived foam cell differentiationGO:001074510.0ADIPOQ, PPARG
12hormone biosynthetic processGO:00424469.9DIO2, DIO3, DIO1
13thyroid hormone generationGO:00065909.9DIO1, DIO2, DIO3
14positive regulation of cellular protein metabolic processGO:00322709.9ADIPOQ, INS
15fatty acid oxidationGO:00193959.8PPARG, ADIPOQ, PPARGC1A
16brown fat cell differentiationGO:00508739.8PPARGC1A, ADIPOQ, PPARG
17response to retinoic acidGO:00325269.8PPARG, APOE, RBP4
18response to dietary excessGO:00020219.8APOE, LEP
19regulation of I-kappaB kinase/NF-kappaB signalingGO:00431229.7TNF, CAPN3
20positive regulation of nitric-oxide synthase activityGO:00510009.7INS, APOE
21positive regulation of synaptic transmissionGO:00508069.6RETN, TNF
22positive regulation of cholesterol effluxGO:00108759.6APOE, ADIPOQ
23glucose homeostasisGO:00425939.6INS, RBP4, ADIPOQ, PPARG
24positive regulation of protein complex assemblyGO:00313349.5TNF, SUMO1
25negative regulation of lipid catabolic processGO:00509959.5INS, TNF
26leukocyte tethering or rollingGO:00509019.5TNF, LEP
27response to ethanolGO:00454719.4ADIPOQ, APOE, RBP4
28positive regulation of smooth muscle cell proliferationGO:00486619.4TNF, RETN, PPARGC1A
29positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.4TNF, PPARGC1A, PPARG
30positive regulation of cytokine secretionGO:00507159.3TNF, INS
31embryonic digestive tract developmentGO:00485669.3TNF, RARB
32response to insulinGO:00328689.3RBP4, RETN, APOE, LEP
33positive regulation of membrane protein ectodomain proteolysisGO:00510449.3TNF, APOE
34regulation of insulin secretionGO:00507969.2TNF, LEP, INS
35positive regulation of cytokine productionGO:00018199.2TNF, LEP
36positive regulation of NF-kappaB transcription factor activityGO:00510929.2INS, TNF, CAPN3
37glucose metabolic processGO:00060068.8TNF, ADIPOQ, LEP, INS
38negative regulation of transcription, DNA-templatedGO:00458928.7PPARG, CAPN3, ADIPOQ, SUMO1, TNF
39response to hypoxiaGO:00016668.6LEP, ADIPOQ, TNF
40positive regulation of transcription, DNA-templatedGO:00458938.5PPARG, PPARGC1A, TNF, CAPN3

Molecular functions related to Familial Partial Lipodystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1selenium bindingGO:00084309.9DIO2, DIO1
2thyroxine 5-deiodinase activityGO:00048009.6DIO1, DIO2, DIO3
3retinoid X receptor bindingGO:00469659.6RARB, PPARG
4hormone activityGO:00051799.0INS, LEP, ADIPOQ, RETN
5identical protein bindingGO:00428028.2ADIPOQ, APOE, TNF, INS
6protein bindingGO:00055155.7PPARG, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet