MCID: FML012
MIFTS: 51

Familial Partial Lipodystrophy malady

Genetic category

Summaries for Familial Partial Lipodystrophy

Sources:
64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:64 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 insulin resistance and mandibuloacral dysplasia. 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:47 604367,151660

Aliases & Classifications for Familial Partial Lipodystrophy

Sources:
8Disease Ontology, 43NIH Rare Diseases, 22GTR, 61UMLS, 45Novoseek, 47OMIM, 35MeSH
See all sources

Classifications:

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


Aliases & Descriptions:

familial partial lipodystrophy 8 43 22 61
familial partial lipodystrophy, type 2 61
lipodystrophy, familial partial 45
koberling-dunnigan syndrome 8
dunnigan syndrome 8


External Ids:

Disease Ontology8 DOID:0050440
MeSH35 D052496

Related Diseases for Familial Partial Lipodystrophy

Sources:
17GeneCards, 18GeneDecks
See all sources

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 140)
idRelated DiseaseScoreTop Affiliating Genes
1insulin resistance30.5PLIN1, LMNA, ADIPOQ, LEP, INS, RETN
2mandibuloacral dysplasia30.4LMNA
3acquired generalized lipodystrophy30.4RETN, LEP, ADIPOQ
4emery-dreifuss muscular dystrophy30.1EMD, LMNA
5congenital generalized lipodystrophy type 230.1PPARG, INS, LEP, LMNA, ADIPOQ
6hypertriglyceridemia30.1APOE, PPARG, INS, LEP, ADIPOQ
7vascular disease30.1APOE, PPARG, RETN, INS, ADIPOQ
8atherosclerosis30.1TNF, APOE, PPARGC1A, PPARG, RBP4, RETN
9familial partial lipodystrophy, kobberling type10.6
10lipodystrophy, familial partial, type 210.6
11familial partial lipodystrophy type 410.5
12familial partial lipodystrophy type 310.4
13insulin resistance, severe, digenic10.4
14atypical lipodystrophy10.3
15sleep apnea10.3
16lipodystrophy, familial partial, type 510.3
17lip disease10.3
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
25vascular skin disease10.1
26familial hyperaldosteronism10.1
27werner syndrome10.0LMNA
28goiter10.0DIO2
29diabetic retinopathy10.0INS
30graves' disease10.0DIO2
31acute myocardial infarction10.0RETN
32myositis10.0CAPN3
33thyrotoxicosis10.0INS
34acute pancreatitis10.0RETN
35pancreatitis10.0INS
36blindness10.0INS
37schizophrenia10.0INS
38cerebrovascular disease10.0APOE
39dilated cardiomyopathy10.0EMD, LMNA
40abdominal aortic aneurysm10.0APOE
41narcolepsy10.0LEP
42hypoglycemia10.0INS
43severe pre-eclampsia10.0LEP
44rabson-mendenhall syndrome10.0INS
45emery-dreifuss muscular dystrophy 2, ad10.0EMD, LMNA
46hyperuricemia10.0INS
47lung cancer10.0RARB
48psoriasis10.0TNF
49dementia10.0APOE
50peritonitis10.0TNF

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



Diseases related to familial partial lipodystrophy

Clinical Features for Familial Partial Lipodystrophy

Sources:
47OMIM
See all sources

Clinical features from OMIM:

604367,151660

Drugs & Therapeutics for Familial Partial Lipodystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Familial Partial Lipodystrophy

Drug clinical trials:

Search ClinicalTrials for Familial Partial Lipodystrophy

Search NIH Clinical Center for Familial Partial Lipodystrophy

Search CenterWatch for Familial Partial Lipodystrophy

Genetic Tests for Familial Partial Lipodystrophy

Sources:
22GTR
See all sources

Genetic tests related to Familial Partial Lipodystrophy:

id Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy22

Anatomical Context for Familial Partial Lipodystrophy

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Familial Partial Lipodystrophy:

33
Skin, Skeletal muscle, Adipocyte, Thyroid, Breast, B cells

Animal Models for Familial Partial Lipodystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Familial Partial Lipodystrophy:

37 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539010.2AKT2, LMNA
2MP:00107719.9INS, ADIPOQ, PLIN1
3MP:00053889.6AKT2, RARB
4MP:00020068.7TNF, PPARGC1A, AKT2, LEP, PPARG, ADIPOQ
5MP:00053898.7DIO3, RBP4, AKT2, RARB
6MP:00053798.7PPARGC1A, DIO1, TNF, RBP4, RARB
7MP:00030128.6TNF, INS, AKT2, PPARG, APOE, CAPN3
8MP:00053677.9ADIPOQ, INS, PPARG, LEP, DIO2, LMNA
9MP:00053817.8LEP, LMNA, RARB, APOE, INS, TNF
10MP:00053917.7LMNA, RBP4, TNF, APOE, PPARG, LEP
11MP:00053757.5TNF, AKT2, PLIN1, LMNA, LEP, INS
12MP:00053707.5APOE, ADIPOQ, LMNA, PLIN1, LEP, INS
13MP:00053977.3LEP, AKT2, ADIPOQ, LMNA, TNF, APOE
14MP:00053867.3LEP, TNF, PPARGC1A, PPARG, EMD, INS
15MP:00053877.3SLC16A2, ADIPOQ, RARB, LEP, TNF, APOE
16MP:00036317.2SLC16A2, APOE, PPARGC1A, PPARG, LEP, TNF
17MP:00053847.0PPARGC1A, DIO3, PPARG, AKT2, TNF, EMD
18MP:00053856.8ADIPOQ, INS, RARB, RBP4, PPARG, APOE
19MP:00053696.4PPARGC1A, CAPN3, TNF, APOE, PPARG, LMNA
20MP:00107686.3LMNA, LEP, INS, AKT2, PPARG, PPARGC1A
21MP:00053786.1PPARG, CAPN3, TNF, DIO1, DIO3, DIO2
22MP:00053765.6PPARGC1A, CAPN3, ADIPOQ, SLC16A2, LMNA, AKT2

Publications for Familial Partial Lipodystrophy

Sources:
51PubMed
See all sources

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
Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation. (22938045)
2012
8
Characterisation of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-associated PPARI^ mutation (Y151C). (21479595)
2011
9
Surgical management of phenotypic alterations related to the Dunnigan variety of familial partial lipodystrophy. (21561824)
2011
10
Successful treatment for the Dunnigan-type familial partial lipodystrophy with Roux-en-Y gastric bypass. (21521325)
2011
11
Visual vignette. Type 2 familial partial lipodystrophy syndrome of the Dunnigan variety. (21454231)
2011
12
A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features. (21031082)
2010
13
Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations. (20041886)
2010
14
Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family. (20625965)
2010
15
Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy. (19793595)
2009
16
A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C (LMNA) mutations complicated by end-stage renal disease. (19011997)
2009
17
Predicting abdominal adipose tissue among women with familial partial lipodystrophy. (19375764)
2009
18
Structure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPLD). (19574635)
2009
19
Obstructive sleep apnea in familial partial lipodystrophy type 2 with atypical skin findings and vascular disease. (19418082)
2009
20
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
21
Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy. (18805829)
2009
22
Serum retinol binding protein 4 in patients with familial partial lipodystrophy. (19303000)
2009
23
Prevalence of reproductive abnormalities among women with familial partial lipodystrophy. (19158052)
2008
24
Prolonged thiazolidinedione therapy does not reverse fat loss in patients with familial partial lipodystrophy, Dunnigan variety. (19040647)
2008
25
Obstructive sleep apnea in 2 women with familial partial lipodystrophy due to a heterozygous LMNA R482Q mutation. (17893350)
2007
26
Long-term efficacy of leptin replacement in patients with Dunnigan-type familial partial lipodystrophy. (17379009)
2007
27
Familial partial lipodystrophy due to the LMNA R482W mutation with multinodular goitre, extrapyramidal syndrome and primary hyperaldosteronism. (17524034)
2007
28
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. (18041775)
2007
29
Efficacy of pioglitazone in familial partial lipodystrophy of the Dunnigan type: a case report. (17936664)
2007
30
Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma. (17299075)
2007
31
Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. (16415042)
2006
32
An imaging study of body composition including lipodeposition pattern in a patient of familial partial lipodystrophy (Dunnigan type). (16459536)
2005
33
Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: efficacy of rosiglitazone. (16241930)
2005
34
Adipokines and the insulin resistance syndrome in familial partial lipodystrophy caused by a mutation in lamin A/C. (16320084)
2005
35
Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation. (12669268)
2003
36
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
37
Risk factors for diabetes in familial partial lipodystrophy, Dunnigan variety. (12716787)
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
Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. (11836320)
2002
41
PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. (12453919)
2002
42
Clinical, endocrine and metabolic studies in the kindred of familial partial lipodystrophy--a syndrome of insulin resistance. (12240840)
2002
43
A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. (11788685)
2002
44
Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). (10843151)
2000
45
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
46
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
47
Familial partial lipodystrophy: a monogenic form of the insulin resistance syndrome. (11136544)
2000
48
Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan- type familial partial lipodystrophy. (10587585)
2000
49
Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). (9920078)
1999
50
Familial incidence of C3 nephritic factor, partial lipodystrophy and membranoproliferative glomerulonephritis. (2385743)
1990

Genetic Variations for Familial Partial Lipodystrophy

Expression for genes affiliated with Familial Partial Lipodystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database, 12EMD Millipore, 50PharmGKB, 4Cell Signaling Technology, 53R&D Systems, 52QIAGEN
See all sources

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

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 60Tocris Bioscience, 24HMDB, 50PharmGKB
See all sources

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

(show top 50)    (show all 107)
idCompoundScoreTop Affiliating Genes
1estrogen4510.7DIO2
2cycloheximide4510.6DIO2
3dehydroepiandrosterone sulfate4510.3RBP4
4fatty acid4510.0PPARG, PLIN1, RBP4
5palmitate4510.0INS, ADIPOQ, PPARGC1A
6glucose459.8PLIN1, RBP4, PPARG, DIO2
7telmisartan45 29 1111.8INS, LEP, ADIPOQ, PPARG
8orlistat45 60 1111.8LEP, ADIPOQ, INS, PPARG
9norepinephrine45 11 2411.7RETN, PPARGC1A, PLIN1
10glycerol 3-phosphate45 2410.7ADIPOQ, PPARG, LEP, PLIN1
11bezafibrate45 29 1111.7APOE, PPARG, INS, ADIPOQ
12ritonavir45 50 1111.6INS, ADIPOQ, APOE, PPARG
13sibutramine45 1110.6INS, ADIPOQ, LEP
14stavudine45 1110.6ADIPOQ, PPARG, LEP
15aicar45 11 2411.5PPARG, INS, LEP, PPARGC1A, ADIPOQ
16glimepiride45 50 1111.5RETN, ADIPOQ, INS, PPARG
17olanzapine50 45 29 11 2413.4LEP, INS, APOE, ADIPOQ
18glibenclamide45 29 50 6012.4INS, APOE, LEP, ADIPOQ
19troglitazone45 29 60 1112.3INS, TNF, ADIPOQ, PPARG, LEP
20glycerol45 11 2411.3PLIN1, LEP, INS, PPARG, ADIPOQ
21thiazolidinedione459.2RETN, INS, PPARG, ADIPOQ, LEP
22prostacyclin459.1APOE, ADIPOQ, TNF, LEP, PPARG
23ciglitazone45 2910.1APOE, PPARG, RARB, TNF
24simvastatin45 50 60 29 11 2414.0ADIPOQ, TNF, APOE, PPARG, RBP4
25rapamycin459.0PPARG, LEP, AKT2, INS, ADIPOQ, APOE
26nash459.0RETN, INS, LEP, ADIPOQ, TNF
278-isoprostane459.0LEP, INS, ADIPOQ, RETN, TNF
28ibmx45 29 6011.0RARB, INS, APOE, PPARG, PLIN1
29atorvastatin45 50 29 11 2413.0PPARG, TNF, RETN, ADIPOQ, APOE
30triiodothyronine458.9LEP, RBP4, DIO2, SLC16A2, DIO1, DIO3
31metformin45 50 1110.9PPARG, PPARGC1A, ADIPOQ, LEP, INS, RETN
32sterol458.9RETN, EMD, PPARG, PPARGC1A, ADIPOQ, APOE
33fenofibrate45 50 1110.8RETN, TNF, ADIPOQ, INS, LEP, PPARG
34triacylglycerol458.8APOE, INS, ADIPOQ, PLIN1, LEP, RBP4
35c-peptide458.7RETN, ADIPOQ, LEP, INS
36betacarotene458.6LEP, APOE, RARB, RBP4
37ly294002458.5PPARG, AKT2, RETN, ADIPOQ, TNF, LEP
38pioglitazone45 50 29 1111.4INS, RETN, RBP4, PPARG, TNF, LEP
39rosiglitazone45 50 29 11 2412.3RBP4, RETN, INS, LEP, LMNA, RARB
40creatinine458.2LEP, APOE, RBP4, RETN, INS, LMNA
41vitamin a45 11 2410.0RETN, RBP4, APOE, RARB, ADIPOQ, LEP
42cholesterol45 29 11 2410.8LEP, PPARG, ADIPOQ, LMNA, PLIN1, PPARGC1A
43retinoic acid45 248.8ADIPOQ, RARB, LMNA, PPARG, TNF, DIO2
44alanine457.7INS, RETN, RBP4, PPARG, DIO2, DIO3
45dexamethasone45 50 29 1110.7RBP4, DIO2, DIO3, RETN, INS, RARB
46serine457.7RBP4, TNF, DIO2, ADIPOQ, LMNA, PPARGC1A
47testosterone45 60 11 2410.3RBP4, RETN, LEP, ADIPOQ, RARB, INS
48thyroxine45 248.2SLC16A2, ADIPOQ, INS, RETN, RBP4, PPARG
49cysteine457.1APOE, CAPN3, DIO1, DIO3, DIO2, RBP4
50lipid456.3RBP4, PPARGC1A, TNF, PLIN1, LMNA, RARB

GO Terms for genes affiliated with Familial Partial Lipodystrophy

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Partial Lipodystrophy

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet