FPL
MCID: FML012
MIFTS: 54

Familial Partial Lipodystrophy (FPL)

Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Familial Partial Lipodystrophy

MalaCards integrated aliases for Familial Partial Lipodystrophy:

Name: Familial Partial Lipodystrophy 12 20 43 58 36 29 6 15 70
Lipodystrophy, Familial Partial 43 54 44 39
Fpld 20 58
Familial Partial Lipodystrophy, Type 2 70
Dunnigan-Kobberling Syndrome 43
Kobberling-Dunnigan Syndrome 43
Koberling-Dunnigan Syndrome 12
Dunnigan Syndrome 12
Fpl 43

Characteristics:

Orphanet epidemiological data:

58
familial partial lipodystrophy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe);

Classifications:

Orphanet: 58  
Rare skin diseases
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0050440
KEGG 36 H00420
MeSH 44 D052496
MESH via Orphanet 45 D052496
ICD10 via Orphanet 33 E88.1
UMLS via Orphanet 71 C0271694
Orphanet 58 ORPHA98306
UMLS 70 C0271694 C1720859 C1720860 more

Summaries for Familial Partial Lipodystrophy

MedlinePlus Genetics : 43 Familial partial lipodystrophy is a rare condition characterized by an abnormal distribution of fatty (adipose) tissue. Adipose tissue is normally found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat as a source of energy and also provides cushioning. In people with familial partial lipodystrophy, adipose tissue is lost from the arms, legs, and hips, giving these parts of the body a very muscular appearance. The fat that cannot be stored in the limbs builds up around the face and neck, and inside the abdomen. Excess fat in these areas gives individuals an appearance described as "cushingoid," because it resembles the physical features associated with a hormonal disorder called Cushing disease. This abnormal fat distribution can begin anytime from childhood to adulthood.Abnormal storage of fat in the body can lead to health problems in adulthood. Many people with familial partial lipodystrophy develop insulin resistance, a condition in which the body's tissues cannot adequately respond to insulin, which is a hormone that normally helps to regulate blood sugar levels. Insulin resistance may worsen to become a more serious disease called diabetes mellitus. Some people with familial partial lipodystrophy develop acanthosis nigricans, a skin condition related to high levels of insulin in the bloodstream. Acanthosis nigricans causes the skin in body folds and creases to become thick, dark, and velvety.Most people with familial partial lipodystrophy also have high levels of fats called triglycerides circulating in the bloodstream (hypertriglyceridemia), which can lead to inflammation of the pancreas (pancreatitis). Familial partial lipodystrophy can also cause an abnormal buildup of fats in the liver (hepatic steatosis), which can result in an enlarged liver (hepatomegaly) and abnormal liver function. After puberty, some affected females develop multiple cysts on the ovaries, an increased amount of body hair (hirsutism), and an inability to conceive (infertility), which are likely related to hormonal changes.Researchers have described at least six forms of familial partial lipodystrophy, which are distinguished by their genetic cause. The most common form of familial partial lipodystrophy is type 2, also called Dunnigan disease. In addition to the signs and symptoms described above, some people with this type of the disorder develop muscle weakness (myopathy), abnormalities of the heart muscle (cardiomyopathy), a form of heart disease called coronary artery disease, and problems with the electrical system that coordinates the heartbeat (the conduction system).

MalaCards based summary : Familial Partial Lipodystrophy, also known as lipodystrophy, familial partial, is related to lipodystrophy, familial partial, type 4 and lipodystrophy, familial partial, type 1, and has symptoms including myalgia An important gene associated with Familial Partial Lipodystrophy is LMNA (Lamin A/C), and among its related pathways/superpathways are PPAR signaling pathway and Insulin signaling pathway. The drugs chenodeoxycholic acid and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include liver, pancreas and heart, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.

GARD : 20 Familial partial lipodystrophy (FPLD) is a group of diseases characterized by an abnormal distribution of fat around the body. Specifically, fat is lost in the arms, legs, and hips, and gained around the face and liver. Symptoms usually develop around puberty and include problems breaking down food and resistance to the hormone that helps control blood sugar ( insulin ). Insulin resistance can eventually lead to diabetes. Other symptoms may include inflammation of the pancreas ( pancreatitis ), heart problems, and high blood pressure ( hypertension ). There are at least six subtypes of FPLD. The most common form is type 2. Familial partial lipodystrophy can be caused by a change ( mutation ) in one of several genes. These genes are responsible for making proteins that play an important role in fat storage. Changes in any of these genes can reduce or eliminate the function of the proteins they produce. This impairs the development, structure, or function of the fat cells (adipocytes), making them unable to properly store and use fats. The condition can be inherited in an autosomal dominant or autosomal recessive manner. Treatment may require a team of specialists who can monitor the patient for any health changes and prescribe a special diet and medication to treat the symptoms of the disease.

KEGG : 36 Familial partial lipodystrophy (FPL) is a rare autosomal dominant disorder characterized by variable loss of body fat from the extremities as well as from the truncal region. LMNA, PPARG and AKT2 have been identified in association with FPL. However, it is not yet known how these genes cause the disorder. Besides them, additional loci are likely as many FPL patients do not reveal any mutations in these genes. LMNA mutations may affect nuclear function, and may be involved in apoptosis and premature cell death of adipocytes, thus causing lipodystrophy. PPARG, PLIN1, and AKT2 are regulators of adipocyte differentiation. AKT2 is also involved in postreceptor insulin signaling. Thus, mutations in these three genes could result in lipodystrophy. The reason why loss of fat is restricted to partial areas remains unknown. Recently, novel autosomal recessive causes of partial lipodystrophy were reported.

Wikipedia : 73 Familial partial lipodystrophy, also known as Köbberling-Dunnigan syndrome, is a rare genetic metabolic... more...

Related Diseases for Familial Partial Lipodystrophy

Diseases in the Familial Partial Lipodystrophy family:

Lipodystrophy, Familial Partial, Type 2 Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Familial Partial, Type 7 Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Partial, Acquired Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Familial Partial, Type 5 Lipodystrophy, Familial Partial, Type 6
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 214)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, familial partial, type 4 33.1 PLIN1 LMNA LIPE CIDEC
2 lipodystrophy, familial partial, type 1 32.7 LMNA CIDEC BSCL2 AGPAT2
3 lipodystrophy, familial partial, type 3 32.4 PPARG LMNA CIDEC BSCL2 AGPAT2
4 lipodystrophy, familial partial, type 5 31.7 PLIN1 LMNA LIPE EMD CIDEC BSCL2
5 lipodystrophy, congenital generalized, type 1 31.6 LEP BSCL2 AGPAT2
6 lipodystrophy, familial partial, type 2 31.0 SREBF1 PPARG PLIN1 LMNA LEP INS
7 laminopathy 30.8 LMNA EMD
8 monogenic diabetes 30.7 LMNA INS BSCL2
9 lipodystrophy, congenital generalized, type 2 30.6 PPARG PLIN1 LMNA LEP INS CIDEC
10 acanthosis nigricans 30.5 PPARG LMNA LEP INS ADIPOQ
11 emery-dreifuss muscular dystrophy 30.4 TMPO LMNA EMD BANF1
12 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.4 PPARG LMNA LEP INS BSCL2 AGPAT2
13 emery-dreifuss muscular dystrophy 2, autosomal dominant 30.2 LMNA EMD BANF1
14 cardiomyopathy, dilated, 1h 30.2 LMNA EMD BANF1
15 hutchinson-gilford progeria syndrome 30.2 LMNA EMD BANF1 ADIPOQ
16 polycystic ovary syndrome 30.2 RETN PPARG LEP INS ADIPOQ
17 hyperandrogenism 30.1 PPARG INS ADIPOQ
18 hyperuricemia 29.9 PPARG LEP INS
19 non-alcoholic steatohepatitis 29.8 TNF PPARG INS ADIPOQ
20 lipid metabolism disorder 29.8 SREBF1 RETN PPARG LMNA LIPE LEP
21 neuromuscular disease 29.8 TMPO LMNA EMD BSCL2
22 congenital generalized lipodystrophy 29.7 SREBF1 PPARG PLIN1 LMNA LIPE LEP
23 muscular dystrophy 29.6 TNF PPARGC1A LMNA INS EMD BANF1
24 hyperinsulinism 29.5 SREBF1 RETN PPARG LIPE LEP INS
25 familial hyperlipidemia 29.5 SREBF1 PPARG LEP INS ADIPOQ
26 end stage renal disease 29.4 TNF LEP INS ADIPOQ
27 hyperglycemia 29.3 RETN PPARGC1A PPARG LEP INS ADIPOQ
28 vascular disease 29.3 TNF RETN PPARG LEP INS ADIPOQ
29 sleep apnea 29.3 TNF RETN LEP INS ADIPOQ
30 dilated cardiomyopathy 29.2 TNF TMPO PPARGC1A PPARG LMNA EMD
31 glucose intolerance 29.2 TNF RETN PPARG LMNA LEP INS
32 atherosclerosis susceptibility 29.1 TNF RETN PPARG LEP INS ADIPOQ
33 fatty liver disease 29.1 TNF SREBF1 RETN PPARG LEP INS
34 non-alcoholic fatty liver disease 29.1 TNF SREBF1 RETN PPARGC1A PPARG LEP
35 apnea, obstructive sleep 29.1 TNF RETN LEP INS ADIPOQ
36 proteasome-associated autoinflammatory syndrome 1 29.0 TNF RETN PPARG INS ADIPOQ
37 gestational diabetes 28.9 TNF RETN PPARG LEP INS ADIPOQ
38 cardiovascular system disease 28.9 TNF RETN PPARG LEP INS ADIPOQ
39 liver cirrhosis 28.9 TNF RETN PPARG LEP INS ADIPOQ
40 body mass index quantitative trait locus 11 27.6 TNF SREBF1 RETN PPARGC1A PPARG PLIN1
41 type 2 diabetes mellitus 27.1 TNF SREBF1 RETN PPARGC1A PPARG PLIN1
42 lipodystrophy, familial partial, type 6 11.8
43 familial partial lipodystrophy due to akt2 mutations 11.5
44 lipodystrophy, familial partial, type 7 11.2
45 hypertriglyceridemia, familial 10.5
46 charcot-marie-tooth disease, axonal, type 2e 10.5
47 fatty liver disease, nonalcoholic 1 10.5
48 emerinopathy 10.4 LMNA EMD
49 lipedema 10.3 PPARG LEP
50 acquired lipodystrophy 10.3 SREBF1 BSCL2

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



Diseases related to Familial Partial Lipodystrophy

Symptoms & Phenotypes for Familial Partial Lipodystrophy

UMLS symptoms related to Familial Partial Lipodystrophy:


myalgia

GenomeRNAi Phenotypes related to Familial Partial Lipodystrophy according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.66 AKT2 PPARG
2 Decreased viability GR00221-A-2 9.66 PPARG
3 Decreased viability GR00221-A-3 9.66 AKT2 PPARG
4 Decreased viability GR00221-A-4 9.66 AKT2 PPARG
5 Decreased viability GR00240-S-1 9.66 LMNA
6 Decreased viability GR00249-S 9.66 LMNA PPARGC1A
7 Decreased viability GR00301-A 9.66 AKT2
8 Decreased viability GR00342-S-3 9.66 AKT2
9 Decreased viability GR00381-A-1 9.66 AGPAT2
10 Decreased viability GR00386-A-1 9.66 LMNA PPARG SUMO1
11 Decreased viability GR00402-S-2 9.66 BANF1 DIO2 LIPE RETN TMPO TNF

MGI Mouse Phenotypes related to Familial Partial Lipodystrophy:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 10.43 ADIPOQ AGPAT2 AKT2 BSCL2 CIDEC DIO2
2 cellular MP:0005384 10.37 ADIPOQ AGPAT2 AKT2 BSCL2 EMD INS
3 behavior/neurological MP:0005386 10.36 ADIPOQ AGPAT2 BSCL2 CIDEC EMD INS
4 homeostasis/metabolism MP:0005376 10.36 ADIPOQ AGPAT2 AKT2 BSCL2 CIDEC DIO2
5 growth/size/body region MP:0005378 10.35 ADIPOQ AGPAT2 AKT2 BSCL2 CIDEC DIO2
6 endocrine/exocrine gland MP:0005379 10.34 ADIPOQ AGPAT2 AKT2 BSCL2 DIO2 INS
7 cardiovascular system MP:0005385 10.28 ADIPOQ BSCL2 EMD INS LEP LIPE
8 hematopoietic system MP:0005397 10.27 ADIPOQ AGPAT2 AKT2 BSCL2 CIDEC INS
9 digestive/alimentary MP:0005381 10.25 AGPAT2 BSCL2 DIO2 INS LEP LIPE
10 liver/biliary system MP:0005370 10.2 ADIPOQ AGPAT2 AKT2 BSCL2 CIDEC INS
11 integument MP:0010771 10.18 ADIPOQ AGPAT2 AKT2 BSCL2 CIDEC INS
12 immune system MP:0005387 10.14 ADIPOQ AGPAT2 AKT2 BSCL2 INS LEP
13 muscle MP:0005369 10 ADIPOQ AKT2 EMD INS LEP LIPE
14 renal/urinary system MP:0005367 9.81 ADIPOQ AGPAT2 BSCL2 DIO2 INS LEP
15 reproductive system MP:0005389 9.65 AKT2 BSCL2 INS LEP LIPE LMNA
16 skeleton MP:0005390 9.4 ADIPOQ AGPAT2 AKT2 BSCL2 DIO2 INS

Drugs & Therapeutics for Familial Partial Lipodystrophy

Drugs for Familial Partial Lipodystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
2 Pharmaceutical Solutions Phase 2
3 Cathartics Phase 2
4 Gastrointestinal Agents Phase 2
5 Laxatives Phase 2
6
Caffeine Approved 58-08-2 2519
7 Central Nervous System Stimulants
8 Neurotransmitter Agents
9 Phosphodiesterase Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double-Blind, Placebo-Controlled, With an Open Label Extension, Phase 2/3 Study of ISIS 304801 Administered Subcutaneously to Patients With Familial Partial Lipodystrophy Active, not recruiting NCT02527343 Phase 2, Phase 3 volanesorsen;Placebo
2 An Investigator-Initiated Open-Label, Randomized Study of Gemcabene in Adults With Familial Partial Lipodystrophy Disease (FPLD) Completed NCT03508687 Phase 1, Phase 2 300mg Gemcabene;600mg Gemcabene
3 An Open-label Phase 2 Study of ISIS 703802 (AKCEA-ANGPTL3-LRx) Administered Subcutaneously to Subjects With Familial Partial Lipodystrophy Completed NCT03514420 Phase 2 AKCEA-ANGPTL3-LRx
4 CLINICAL PROTOCOL to Investigate the Long-term Safety and Efficacy of Recombinant Human Leptin (METRELEPTIN) in Various Forms of Partial Lipodystrophy Completed NCT02654977 Phase 2 Metreleptin
5 Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients Recruiting NCT02430077 Phase 2 Obeticholic Acid;Placebo
6 Expanded-Access for the Use of Metreleptin in Patients With Partial Lipodystrophy Associated With Diabetes Mellitus or Hypertriglyceridemia Active, not recruiting NCT02404896 Phase 2 Metreleptin
7 Lipodystrophy Connect Patient Registry Completed NCT02577952
8 Genetic and Metabolic Basis of Familial Partial Lipodystrophy Active, not recruiting NCT02858830
9 Evaluating the Therapeutic Efficacy and Metabolic Impact of a Low Energy Diet (LED) in People With Familial Partial Lipodystrophy and Diabetes Not yet recruiting NCT03900286
10 The Regulation of Fat Metabolism in a Cyclist With Lipodystrophy: a Case Study Not yet recruiting NCT04056000

Search NIH Clinical Center for Familial Partial Lipodystrophy

Cochrane evidence based reviews: lipodystrophy, familial partial

Genetic Tests for Familial Partial Lipodystrophy

Genetic tests related to Familial Partial Lipodystrophy:

# Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy 29

Anatomical Context for Familial Partial Lipodystrophy

MalaCards organs/tissues related to Familial Partial Lipodystrophy:

40
Liver, Pancreas, Heart, Adipocyte, Skeletal Muscle, Ovary, Thyroid

Publications for Familial Partial Lipodystrophy

Articles related to Familial Partial Lipodystrophy:

(show top 50) (show all 319)
# Title Authors PMID Year
1
Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene. 61 54 6
11344241 2001
2
The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. 6 61
25524705 2015
3
Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities. 6 61
15531479 2004
4
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 6
10655060 2000
5
LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance. 61 54
20130076 2010
6
Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy. 61 54
19793595 2009
7
Functional implications of genetic variation in human PPARgamma. 54 61
19748282 2009
8
Lipodystrophy: an unusual diagnosis in a case of oligomenorrhea and hirsutism. 54 61
19622949 2009
9
The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. 61 54
19201734 2009
10
A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C (LMNA) mutations complicated by end-stage renal disease. 61 54
19011997 2009
11
Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy. 61 54
18805829 2009
12
Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin. 61 54
18728124 2008
13
A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy. 54 61
18031308 2008
14
Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy. 54 61
18364375 2008
15
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. 61 54
18478590 2008
16
Single gene contributions: genetic variants of peroxisome proliferator-activated receptor (isoforms alpha, beta/delta and gamma) and mechanisms of dyslipidemias. 61 54
18388689 2008
17
New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome. 61 54
17711925 2007
18
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. 54 61
18041775 2007
19
New PPARG mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand. 54 61
17766367 2007
20
"Laminopathies": a wide spectrum of human diseases. 61 54
17467691 2007
21
Peroxisome proliferator-activated receptor-gamma C190S mutation causes partial lipodystrophy. 61 54
17356052 2007
22
Phenomics and lamins: from disease to therapy. 54 61
17466974 2007
23
Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma. 54 61
17299075 2007
24
Impaired peroxisome proliferator-activated receptor gamma function through mutation of a conserved salt bridge (R425C) in familial partial lipodystrophy. 54 61
17312272 2007
25
Long-term efficacy of leptin replacement in patients with Dunnigan-type familial partial lipodystrophy. 54 61
17379009 2007
26
Primary laminopathy fibroblasts display altered genome organization and apoptosis. 61 54
17274801 2007
27
Lamin A/C polymorphisms, type 2 diabetes, and the metabolic syndrome: case-control and quantitative trait studies. 61 54
17327461 2007
28
Common variation in LMNA increases susceptibility to type 2 diabetes and associates with elevated fasting glycemia and estimates of body fat and height in the general population: studies of 7,495 Danish whites. 61 54
17327437 2007
29
Common variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjects. 54 61
17327460 2007
30
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). 54 61
17250669 2007
31
Muscle and nerve pathology in Dunnigan familial partial lipodystrophy. 54 61
17325275 2007
32
A pathogenic mechanism leading to partial lipodistrophy and prospects for pharmacological treatment of insulin resistance syndrome. 61 54
17465333 2007
33
Genetic forms of the cardiometabolic syndrome: what can they tell the clinician? 61 54
17684446 2007
34
A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2. 61 54
16636128 2006
35
Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3). 61 54
16412238 2006
36
Etiological investigations in apparent type 2 diabetes: when to search for lamin A/C mutations? 61 54
16357800 2005
37
Adipokines and the insulin resistance syndrome in familial partial lipodystrophy caused by a mutation in lamin A/C. 54 61
16320084 2005
38
Diseases of adipose tissue: genetic and acquired lipodystrophies. 61 54
16246048 2005
39
Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: efficacy of rosiglitazone. 61 54
16241930 2005
40
Hepatic steatosis in Dunnigan-type familial partial lipodystrophy. 54 61
16181372 2005
41
Genetic and physiological insights into the metabolic syndrome. 61 54
15890790 2005
42
Altered pre-lamin A processing is a common mechanism leading to lipodystrophy. 54 61
15843404 2005
43
Type A insulin resistance syndrome revealing a novel lamin A mutation. 54 61
15919811 2005
44
Lessons from human mutations in PPARgamma. 61 54
15711581 2005
45
A single-base mutation in the peroxisome proliferator-activated receptor gamma4 promoter associated with altered in vitro expression and partial lipodystrophy. 61 54
15531525 2004
46
Laminopathies and atherosclerosis. 61 54
15205220 2004
47
Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene. 54 61
15298354 2004
48
Disruption of spermatogenesis in mice lacking A-type lamins. 61 54
14996939 2004
49
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. 61 54
14597414 2003
50
Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene. 61 54
14510863 2003

Variations for Familial Partial Lipodystrophy

ClinVar genetic disease variations for Familial Partial Lipodystrophy:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMNA NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) SNV Pathogenic 14489 rs57920071 GRCh37: 1:156106775-156106775
GRCh38: 1:156136984-156136984
2 LMNA NM_170707.4(LMNA):c.-142C>A SNV Uncertain significance 292827 rs886045358 GRCh37: 1:156084568-156084568
GRCh38: 1:156114777-156114777
3 LMNA NM_005572.3(LMNA):c.-225C>A SNV Uncertain significance 292824 rs886045355 GRCh37: 1:156084485-156084485
GRCh38: 1:156114694-156114694
4 LMNA NM_170707.4(LMNA):c.-5C>A SNV Uncertain significance 292833 rs886045362 GRCh37: 1:156084705-156084705
GRCh38: 1:156114914-156114914
5 LMNA NM_170707.4(LMNA):c.1698+124C>T SNV Uncertain significance 368833 rs1057516022 GRCh37: 1:156107658-156107658
GRCh38: 1:156137867-156137867
6 LMNA NM_170707.4(LMNA):c.-183C>A SNV Uncertain significance 292826 rs886045357 GRCh37: 1:156084527-156084527
GRCh38: 1:156114736-156114736
7 LMNA NM_170707.4(LMNA):c.-62C>A SNV Uncertain significance 292832 rs886045361 GRCh37: 1:156084648-156084648
GRCh38: 1:156114857-156114857
8 LMNA NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) SNV Uncertain significance 292838 rs775159300 GRCh37: 1:156105740-156105740
GRCh38: 1:156135949-156135949
9 LMNA NM_170707.4(LMNA):c.-109G>T SNV Uncertain significance 292830 rs886045360 GRCh37: 1:156084601-156084601
GRCh38: 1:156114810-156114810
10 LMNA NM_170707.4(LMNA):c.936+12C>T SNV Uncertain significance 292837 rs199881992 GRCh37: 1:156105115-156105115
GRCh38: 1:156135324-156135324
11 LMNA NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) SNV Benign 14517 rs60890628 GRCh37: 1:156108298-156108298
GRCh38: 1:156138507-156138507

Expression for Familial Partial Lipodystrophy

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

Pathways for Familial Partial Lipodystrophy

Pathways related to Familial Partial Lipodystrophy according to KEGG:

36
# Name Kegg Source Accession
1 PPAR signaling pathway hsa03320
2 Insulin signaling pathway hsa04910
3 Apelin signaling pathway hsa04371
4 Regulation of lipolysis in adipocytes hsa04923

Pathways related to Familial Partial Lipodystrophy according to GeneCards Suite gene sharing:

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.42 TNF SREBF1 PPARGC1A PPARG PLIN1 LEP
2
Show member pathways
13.31 TNF SREBF1 PPARGC1A PPARG PLIN1 LIPE
3
Show member pathways
12.8 SREBF1 PPARGC1A LIPE INS AKT2
4
Show member pathways
12.78 TNF SREBF1 PPARGC1A PPARG PLIN1 LEP
5
Show member pathways
12.7 TNF RETN LEP INS AKT2 ADIPOQ
6
Show member pathways
12.45 SREBF1 LIPE INS DIO2 AKT2
7
Show member pathways
12.32 SREBF1 PPARGC1A PPARG LIPE LEP INS
9
Show member pathways
12.15 TNF SREBF1 LMNA AKT2
10 12.14 SREBF1 PPARGC1A PPARG PLIN1 LIPE INS
11
Show member pathways
12.13 LIPE LEP INS AKT2
12
Show member pathways
12.09 PPARGC1A PPARG INS AKT2 ADIPOQ
13 12.01 PPARGC1A PLIN1 LIPE AKT2
14
Show member pathways
11.93 TNF SREBF1 PPARGC1A INS AKT2
15 11.81 PPARGC1A PPARG LEP INS ADIPOQ
16
Show member pathways
11.78 TNF INS ADIPOQ
17 11.67 PPARG PLIN1 ADIPOQ
18 11.65 SREBF1 PPARG INS
19 11.6 TNF SUMO1 PPARG
20 11.58 PLIN1 LIPE INS AKT2
21 11.56 TNF PPARGC1A LEP AKT2 ADIPOQ
22 11.56 TNF SREBF1 RETN PPARGC1A PPARG PLIN1
23 11.51 TNF SUMO1 AKT2
24
Show member pathways
11.28 TMPO LMNA EMD BANF1
25 11.07 PPARGC1A PPARG LEP ADIPOQ
26 10.9 TNF PPARGC1A PPARG LEP ADIPOQ

GO Terms for Familial Partial Lipodystrophy

Cellular components related to Familial Partial Lipodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear membrane GO:0031965 9.46 TMPO SUMO1 LMNA EMD
2 lipid droplet GO:0005811 9.26 PLIN1 LIPE CIDEC BSCL2
3 nuclear envelope GO:0005635 9.1 TMPO SUMO1 SREBF1 LMNA EMD BANF1

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.95 SREBF1 PPARGC1A PPARG AGPAT2 ADIPOQ
2 positive regulation of protein phosphorylation GO:0001934 9.91 TNF LEP AKT2 ADIPOQ
3 lipid metabolic process GO:0006629 9.91 SREBF1 PPARG PLIN1 LIPE LEP BSCL2
4 cholesterol metabolic process GO:0008203 9.84 SREBF1 LIPE LEP
5 glucose homeostasis GO:0042593 9.84 PPARG LEP INS ADIPOQ
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.83 TNF LEP INS
7 regulation of protein stability GO:0031647 9.83 SUMO1 SREBF1 LMNA
8 insulin receptor signaling pathway GO:0008286 9.82 SREBF1 INS AKT2
9 response to nutrient GO:0007584 9.82 PPARG LEP ADIPOQ
10 response to nutrient levels GO:0031667 9.81 PPARGC1A LEP ADIPOQ
11 regulation of insulin secretion GO:0050796 9.8 TNF SREBF1 LEP
12 circadian rhythm GO:0007623 9.78 SREBF1 PPARGC1A LEP ADIPOQ
13 response to activity GO:0014823 9.76 PPARGC1A LEP ADIPOQ
14 negative regulation of signaling receptor activity GO:2000272 9.74 TNF PPARGC1A PPARG
15 positive regulation of glucose import GO:0046326 9.73 INS AKT2 ADIPOQ
16 fat cell differentiation GO:0045444 9.71 SREBF1 RETN BSCL2 AKT2
17 brown fat cell differentiation GO:0050873 9.7 PPARGC1A DIO2 ADIPOQ
18 positive regulation of glycogen biosynthetic process GO:0045725 9.67 INS AKT2
19 regulation of fat cell differentiation GO:0045598 9.67 TNF PPARG LEP
20 negative regulation of glucose import GO:0046325 9.66 TNF LEP
21 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.65 PPARG ADIPOQ
22 response to dietary excess GO:0002021 9.63 PPARGC1A LEP
23 negative regulation of lipid catabolic process GO:0050995 9.63 TNF INS BSCL2
24 regulation of protein localization to nucleus GO:1900180 9.62 LMNA LEP
25 negative regulation of lipid storage GO:0010888 9.62 TNF LEP
26 positive regulation of cytokine production GO:0001819 9.62 TNF LEP INS AGPAT2
27 negative regulation of acute inflammatory response GO:0002674 9.61 PPARG INS
28 fatty acid oxidation GO:0019395 9.61 PPARGC1A PPARG ADIPOQ
29 negative regulation of feeding behavior GO:2000252 9.6 RETN INS
30 positive regulation of fatty acid oxidation GO:0046321 9.59 PPARGC1A PPARG
31 positive regulation of fatty acid metabolic process GO:0045923 9.58 PPARG ADIPOQ
32 cellular response to insulin stimulus GO:0032869 9.55 SREBF1 PPARG LEP AKT2 ADIPOQ
33 response to metformin GO:1901558 9.51 PPARGC1A PPARG
34 mitotic nuclear envelope reassembly GO:0007084 9.43 LMNA EMD BANF1
35 positive regulation of cold-induced thermogenesis GO:0120162 9.35 PPARGC1A LEP DIO2 BSCL2 ADIPOQ
36 glucose metabolic process GO:0006006 9.02 TNF LEP INS AKT2 ADIPOQ

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.92 RETN LEP INS ADIPOQ

Sources for Familial Partial Lipodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....