MCID: FML012
MIFTS: 54

Familial Partial Lipodystrophy malady

Genetic diseases category

Summaries for Familial Partial Lipodystrophy

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Familial partial lipodystrophy (also known as \"Köbberling–Dunnigan syndrome\") is an autosomal... more...

MalaCards: Familial Partial Lipodystrophy, also known as familial partial lipodystrophy, type 2, is related to lipodystrophy and obesity. An important gene associated with Familial Partial Lipodystrophy is LMNA (lamin A/C), and among its related pathways are PPAR signaling pathway and Regulation of thyroid hormone activity. The compounds estrogen and cycloheximide have been mentioned in the context of this disorder. Affiliated tissues include skin, skeletal muscle and adipocyte, and related mouse phenotypes are skeleton and integument.

Description from OMIM:46 604367,151660

Aliases & Classifications for Familial Partial Lipodystrophy

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8Disease Ontology, 42NIH Rare Diseases, 22GTR, 60UMLS, 44Novoseek, 46OMIM, 34MeSH
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Classifications:

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


Aliases & Descriptions:

familial partial lipodystrophy 8 42 22 60
familial partial lipodystrophy, type 2 60
lipodystrophy, familial partial 44
koberling-dunnigan syndrome 8
dunnigan syndrome 8


External Ids:

Disease Ontology8 DOID:0050440
MeSH34 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 141)
idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy31.5PPARG, AKT2, EMD, RETN, INS, LEP
2obesity30.3TNF, APOE, DIO2, PPARGC1A, PPARG, RBP4
3emery-dreifuss muscular dystrophy30.1EMD, LMNA
4muscular dystrophy30.1CAPN3, EMD, LMNA
5glomerulonephritis30.1RBP4
6acquired generalized lipodystrophy30.1RETN, LEP, ADIPOQ
7congenital generalized lipodystrophy type 230.1PPARG, INS, LEP, LMNA, ADIPOQ
8vascular disease30.1APOE, PPARG, RETN, INS, ADIPOQ
9familial hyperlipidemia30.1APOE, PPARGC1A, PPARG, RETN, INS, LEP
10atherosclerosis30.1TNF, APOE, PPARGC1A, PPARG, RBP4, RETN
11diabetes mellitus30.1TNF, APOE, PPARGC1A, PPARG, RBP4, AKT2
12lipodystrophy, familial partial, type 210.6
13familial partial lipodystrophy, kobberling type10.6
14familial partial lipodystrophy type 410.5
15familial partial lipodystrophy type 310.4
16insulin resistance, severe, digenic10.3
17lipodystrophy, familial partial, type 510.3
18familial partial lipodystrophy due to akt2 mutations10.3
19focal segmental glomerulosclerosis10.1
20eclampsia10.1
21familial hypertriglyceridemia10.1
22congenital generalized lipodystrophy10.1
23lipoatrophic diabetes10.1
24focal glomerulosclerosis10.1
25hepatitis10.1
26hyperaldosteronism10.1
27pre-eclampsia10.1
28skin disease10.1
29thyroiditis10.1
30vascular skin disease10.1
31werner syndrome10.0LMNA
32mandibuloacral dysplasia10.0LMNA
33goiter10.0DIO2
34diabetic retinopathy10.0INS
35graves' disease10.0DIO2
36acute myocardial infarction10.0RETN
37myositis10.0CAPN3
38thyrotoxicosis10.0INS
39acute pancreatitis10.0RETN
40pancreatitis10.0INS
41blindness10.0INS
42schizophrenia10.0INS
43cerebrovascular disease10.0APOE
44dilated cardiomyopathy10.0EMD, LMNA
45abdominal aortic aneurysm10.0APOE
46narcolepsy10.0LEP
47hypoglycemia10.0INS
48severe pre-eclampsia10.0LEP
49rabson-mendenhall syndrome10.0INS
50emery-dreifuss muscular dystrophy 2, ad10.0EMD, LMNA

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



Diseases related to familial partial lipodystrophy

Clinical Features for Familial Partial Lipodystrophy

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46OMIM
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Clinical features from OMIM:

604367,151660

Drugs & Therapeutics for Familial Partial Lipodystrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Familial Partial Lipodystrophy

Drug clinical trials:

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Search NIH Clinical Center for Familial Partial Lipodystrophy

Search CenterWatch 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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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Familial Partial Lipodystrophy:

36 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539010.2AKT2, LMNA
2MP:00107719.9INS, PLIN1, ADIPOQ
3MP:00053889.6RARB, AKT2
4MP:00020068.7PPARGC1A, PPARG, AKT2, LEP, ADIPOQ, TNF
5MP:00053898.7DIO3, RBP4, AKT2, RARB
6MP:00053798.7TNF, DIO1, PPARGC1A, RBP4, RARB
7MP:00030128.6CAPN3, TNF, APOE, PPARG, AKT2, INS
8MP:00053677.9APOE, DIO1, DIO2, PPARG, INS, LEP
9MP:00053817.8TNF, APOE, DIO1, DIO2, PPARGC1A, INS
10MP:00053917.7TNF, APOE, PPARG, RBP4, INS, LEP
11MP:00053757.5TNF, APOE, PPARGC1A, PPARG, AKT2, RETN
12MP:00053707.5TNF, APOE, PPARGC1A, PPARG, AKT2, RETN
13MP:00053977.3TNF, APOE, PPARG, AKT2, INS, LEP
14MP:00053867.3TNF, APOE, PPARGC1A, PPARG, EMD, INS
15MP:00053877.3TNF, APOE, PPARG, AKT2, INS, LEP
16MP:00036317.2TNF, APOE, PPARGC1A, PPARG, AKT2, INS
17MP:00053847.0PPARG, PPARGC1A, DIO3, APOE, TNF, RBP4
18MP:00053856.8CAPN3, TNF, APOE, PPARGC1A, PPARG, RBP4
19MP:00053696.4ADIPOQ, CAPN3, TNF, APOE, PPARGC1A, PPARG
20MP:00107686.3TNF, APOE, DIO3, PPARGC1A, PPARG, AKT2
21MP:00053786.1CAPN3, TNF, APOE, DIO1, DIO3, DIO2
22MP:00053765.6PPARGC1A, DIO2, DIO3, DIO1, APOE, TNF

Publications for Familial Partial Lipodystrophy

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50PubMed
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Articles related to Familial Partial Lipodystrophy:

(show top 50)    (show all 87)
idTitleAuthorsYear
1
Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations. (23243001)
2013
2
Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family. (24002959)
2013
3
Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA. (24080738)
2013
4
Quantitative whole-body MRI in familial partial lipodystrophy type 2: changes in adipose tissue distribution coincide with biochemical improvement. (23096204)
2012
5
Premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy and hypertriglyceridemia. (22989829)
2012
6
Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. (22935701)
2012
7
Characterisation of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-associated PPARI^ mutation (Y151C). (21479595)
2011
8
Successful treatment for the Dunnigan-type familial partial lipodystrophy with Roux-en-Y gastric bypass. (21521325)
2011
9
Visual vignette. Type 2 familial partial lipodystrophy syndrome of the Dunnigan variety. (21454231)
2011
10
Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations. (20041886)
2010
11
Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family. (20625965)
2010
12
Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy. (19793595)
2009
13
A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C (LMNA) mutations complicated by end-stage renal disease. (19011997)
2009
14
Predicting abdominal adipose tissue among women with familial partial lipodystrophy. (19375764)
2009
15
Structure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPLD). (19574635)
2009
16
Obstructive sleep apnea in familial partial lipodystrophy type 2 with atypical skin findings and vascular disease. (19418082)
2009
17
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
18
Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy. (18805829)
2009
19
Serum retinol binding protein 4 in patients with familial partial lipodystrophy. (19303000)
2009
20
Prevalence of reproductive abnormalities among women with familial partial lipodystrophy. (19158052)
2008
21
Prolonged thiazolidinedione therapy does not reverse fat loss in patients with familial partial lipodystrophy, Dunnigan variety. (19040647)
2008
22
Obstructive sleep apnea in 2 women with familial partial lipodystrophy due to a heterozygous LMNA R482Q mutation. (17893350)
2007
23
Long-term efficacy of leptin replacement in patients with Dunnigan-type familial partial lipodystrophy. (17379009)
2007
24
Familial partial lipodystrophy due to the LMNA R482W mutation with multinodular goitre, extrapyramidal syndrome and primary hyperaldosteronism. (17524034)
2007
25
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. (18041775)
2007
26
Efficacy of pioglitazone in familial partial lipodystrophy of the Dunnigan type: a case report. (17936664)
2007
27
Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma. (17299075)
2007
28
Effectiveness of gastric bypass surgery in a patient with familial partial lipodystrophy. (16732025)
2006
29
Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. (16415042)
2006
30
An imaging study of body composition including lipodeposition pattern in a patient of familial partial lipodystrophy (Dunnigan type). (16459536)
2005
31
Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: efficacy of rosiglitazone. (16241930)
2005
32
Adipokines and the insulin resistance syndrome in familial partial lipodystrophy caused by a mutation in lamin A/C. (16320084)
2005
33
Mesangiocapillary glomerulonephritis type 2 associated with familial partial lipodystrophy (Dunnigan-Kobberling syndrome). (14988595)
2004
34
Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation. (12669268)
2003
35
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
36
Risk factors for diabetes in familial partial lipodystrophy, Dunnigan variety. (12716787)
2003
37
KAPbberling type of familial partial lipodystrophy: an underrecognized syndrome. (12766116)
2003
38
Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells. (12729796)
2003
39
Post-mortem findings in familial partial lipodystrophy, Dunnigan variety. (12647844)
2002
40
PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. (12453919)
2002
41
Clinical, endocrine and metabolic studies in the kindred of familial partial lipodystrophy--a syndrome of insulin resistance. (12240840)
2002
42
Consider cardiomyopathy in subjects with familial partial lipodystrophy. (11790714)
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
Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). (10843151)
2000
45
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
46
Familial partial lipodystrophy: a monogenic form of the insulin resistance syndrome. (11136544)
2000
47
Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan- type familial partial lipodystrophy. (10587585)
2000
48
Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). (9920078)
1999
49
Familial incidence of C3 nephritic factor, partial lipodystrophy and membranoproliferative glomerulonephritis. (2385743)
1990
50
Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state. (3712389)
1986

Genetic Variations for Familial Partial Lipodystrophy

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Expression for genes affiliated with Familial Partial Lipodystrophy

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

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8PPARG, PLIN1, ADIPOQ
2
Hide members
9.7DIO1, DIO3
3
Hide members
9.7PLIN1, LEP, INS
4
Hide members
9.7BANF1, EMD, LMNA
5
Hide members
9.7LMNA, EMD, BANF1
6
Apoptosis and survival Caspase cascade
Hide members
9.6TNF, AKT2, LMNA
79.6ADIPOQ, LEP, AKT2
8
Hide members
9.6INS, RBP4, PPARG
99.5DIO2, DIO3, DIO1
10
Hide members
9.5TNF, INS, ADIPOQ
11
Translation Insulin regulation of translation
Hide members
9.3INS, AKT2, PPARGC1A, TNF
129.2PPARGC1A, PPARG, LEP, PLIN1, ADIPOQ
138.9TNF, PPARGC1A, AKT2, LEP, ADIPOQ
148.9INS, DIO2, DIO3, DIO1, TNF
158.6APOE, PPARGC1A, PPARG, AKT2, INS, PLIN1
168.1ADIPOQ, PPARGC1A, PPARG, RETN, INS, LEP
17
Hide members
8.1TNF, APOE, PPARGC1A, PPARG, AKT2, INS
18
Hide members
7.9TNF, RBP4, AKT2, RETN, INS, LEP

Compounds for genes affiliated with Familial Partial Lipodystrophy

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

(show top 50)    (show all 107)
idCompoundScoreTop Affiliating Genes
1estrogen4410.7DIO2
2cycloheximide4410.6DIO2
3dehydroepiandrosterone sulfate4410.3RBP4
4fatty acid4410.0PPARG, PLIN1, RBP4
5palmitate4410.0INS, ADIPOQ, PPARGC1A
6glucose449.8PLIN1, RBP4, PPARG, DIO2
7telmisartan44 28 1111.8INS, LEP, ADIPOQ, PPARG
8orlistat44 59 1111.8LEP, ADIPOQ, INS, PPARG
9norepinephrine44 11 2411.7RETN, PPARGC1A, PLIN1
10glycerol 3-phosphate44 2410.7ADIPOQ, PPARG, LEP, PLIN1
11bezafibrate44 28 1111.7APOE, PPARG, INS, ADIPOQ
12ritonavir44 49 1111.6INS, ADIPOQ, APOE, PPARG
13sibutramine44 1110.6INS, ADIPOQ, LEP
14stavudine44 1110.6ADIPOQ, PPARG, LEP
15aicar44 11 2411.5PPARG, INS, LEP, PPARGC1A, ADIPOQ
16glimepiride44 49 1111.5RETN, ADIPOQ, INS, PPARG
17olanzapine49 44 28 11 2413.4LEP, INS, APOE, ADIPOQ
18glibenclamide44 28 49 5912.4INS, APOE, LEP, ADIPOQ
19troglitazone44 28 59 1112.3INS, TNF, ADIPOQ, PPARG, LEP
20glycerol44 11 2411.3PLIN1, LEP, INS, PPARG, ADIPOQ
21thiazolidinedione449.2RETN, INS, PPARG, ADIPOQ, LEP
22prostacyclin449.1APOE, ADIPOQ, TNF, LEP, PPARG
23ciglitazone44 2810.1APOE, PPARG, RARB, TNF
24simvastatin44 49 59 28 11 2414.0ADIPOQ, TNF, APOE, PPARG, RBP4
25rapamycin449.0PPARG, LEP, AKT2, INS, ADIPOQ, APOE
26nash449.0RETN, INS, LEP, ADIPOQ, TNF
278-isoprostane449.0LEP, INS, ADIPOQ, RETN, TNF
28ibmx44 28 5911.0RARB, INS, APOE, PPARG, PLIN1
29atorvastatin44 49 28 11 2413.0PPARG, TNF, RETN, ADIPOQ, APOE
30triiodothyronine448.9LEP, RBP4, DIO2, SLC16A2, DIO1, DIO3
31metformin44 49 1110.9PPARG, PPARGC1A, ADIPOQ, LEP, INS, RETN
32sterol448.9RETN, EMD, PPARG, PPARGC1A, ADIPOQ, APOE
33fenofibrate44 49 1110.8RETN, TNF, ADIPOQ, INS, LEP, PPARG
34triacylglycerol448.8APOE, INS, ADIPOQ, PLIN1, LEP, RBP4
35c-peptide448.7RETN, ADIPOQ, LEP, INS
36betacarotene448.6LEP, APOE, RARB, RBP4
37ly294002448.5PPARG, AKT2, RETN, ADIPOQ, TNF, LEP
38pioglitazone44 49 28 1111.4INS, RETN, RBP4, PPARG, TNF, LEP
39rosiglitazone44 49 28 11 2412.3RBP4, RETN, INS, LEP, LMNA, RARB
40creatinine448.2LEP, APOE, RBP4, RETN, INS, LMNA
41vitamin a44 11 2410.0RETN, RBP4, APOE, RARB, ADIPOQ, LEP
42cholesterol44 28 11 2410.8LEP, PPARG, ADIPOQ, LMNA, PLIN1, PPARGC1A
43retinoic acid44 248.8ADIPOQ, RARB, LMNA, PPARG, TNF, DIO2
44alanine447.7INS, RETN, RBP4, PPARG, DIO2, DIO3
45dexamethasone44 49 28 1110.7RBP4, DIO2, DIO3, RETN, INS, RARB
46serine447.7RBP4, TNF, DIO2, ADIPOQ, LMNA, PPARGC1A
47testosterone44 59 11 2410.3RBP4, RETN, LEP, ADIPOQ, RARB, INS
48thyroxine44 248.2SLC16A2, ADIPOQ, INS, RETN, RBP4, PPARG
49cysteine447.1APOE, CAPN3, DIO1, DIO3, DIO2, RBP4
50lipid446.3RBP4, PPARGC1A, TNF, PLIN1, LMNA, RARB

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
1extracellular regionGO:0055767.8APOE, RBP4, RETN, INS, LEP, ADIPOQ
2extracellular spaceGO:0056157.5ADIPOQ, TNF, APOE, RBP4, RETN, INS

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

(show all 34)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of fatty acid oxidationGO:04632110.4PPARG, PPARGC1A
2negative regulation of acute inflammatory responseGO:00267410.3PPARG, INS
3response to muscle activityGO:01485010.3CAPN3, PPARGC1A
4positive regulation of insulin receptor signaling pathwayGO:04662810.2INS, LEP
5negative regulation of gluconeogenesisGO:04572110.2INS, ADIPOQ
6response to dietary excessGO:00202110.1APOE, LEP
7regulation of I-kappaB kinase/NF-kappaB cascadeGO:04312210.1CAPN3, TNF
8fatty acid oxidationGO:01939510.1PPARGC1A, PPARG, ADIPOQ
9mitotic nuclear envelope reassemblyGO:00708410.1BANF1, EMD, LMNA
10brown fat cell differentiationGO:05087310.1ADIPOQ, PPARG, PPARGC1A
11mitotic nuclear envelope disassemblyGO:00707710.1BANF1, EMD, LMNA
12muscle organ developmentGO:00751710.0CAPN3, EMD, LMNA
13positive regulation of cholesterol effluxGO:01087510.0ADIPOQ, APOE
14cellular response to insulin stimulusGO:03286910.0PPARG, AKT2, ADIPOQ
15leukocyte tethering or rollingGO:05090110.0LEP, TNF
16positive regulation of cellular protein metabolic processGO:03227010.0INS, ADIPOQ
17positive regulation of glucose importGO:04632610.0ADIPOQ, INS, AKT2
18positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.9PPARG, PPARGC1A, TNF
19hormone biosynthetic processGO:0424469.9DIO2, DIO3, DIO1
20thyroid hormone generationGO:0065909.9DIO1, DIO3, DIO2
21positive regulation of nitric-oxide synthase activityGO:0510009.9APOE, INS
22negative regulation of macrophage derived foam cell differentiationGO:0107459.9PPARG, ADIPOQ
23response to retinoic acidGO:0325269.8APOE, PPARG, RBP4
24negative regulation of lipid catabolic processGO:0509959.8INS, TNF
25positive regulation of membrane protein ectodomain proteolysisGO:0510449.8TNF, APOE
26regulation of insulin secretionGO:0507969.8TNF, INS, LEP
27negative regulation of cartilage developmentGO:0610379.7LEP, RARB
28positive regulation of protein phosphorylationGO:0019349.6TNF, AKT2, ADIPOQ
29positive regulation of glycogen biosynthetic processGO:0457259.6INS, AKT2
30glucose homeostasisGO:0425939.6PPARG, RBP4, INS, ADIPOQ
31response to ethanolGO:0454719.6APOE, RBP4, ADIPOQ
32response to hypoxiaGO:0016669.6ADIPOQ, LEP, PPARGC1A, TNF
33glucose metabolic processGO:0060069.3ADIPOQ, LEP, INS, AKT2, TNF
34response to insulin stimulusGO:0328689.2APOE, RBP4, RETN, LEP

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

idNameGO IDScoreTop Affiliating Genes
1selenium bindingGO:00843010.0DIO2, DIO1
2thyroxine 5-deiodinase activityGO:0048009.5DIO2, DIO3, DIO1
3hormone activityGO:0051798.9RETN, INS, LEP, ADIPOQ
4protein bindingGO:0055155.8CAPN3, TNF, APOE, PPARGC1A, PPARG, RBP4

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet