FPL
MCID: FML012
MIFTS: 52

Familial Partial Lipodystrophy (FPL)

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

Aliases & Classifications for Familial Partial Lipodystrophy

MalaCards integrated aliases for Familial Partial Lipodystrophy:

Name: Familial Partial Lipodystrophy 12 53 25 37 29 6 15 73
Lipodystrophy, Familial Partial 25 55 44
Familial Partial Lipodystrophy, Type 2 73
Dunnigan-Kobberling Syndrome 25
Kobberling-Dunnigan Syndrome 25
Koberling-Dunnigan Syndrome 12
Dunnigan Syndrome 12
Fpld 53
Fpl 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050440
MeSH 44 D052496
NCIt 50 C84708
SNOMED-CT 68 49292002
KEGG 37 H00420

Summaries for Familial Partial Lipodystrophy

NIH Rare Diseases : 53 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.

MalaCards based summary : Familial Partial Lipodystrophy, also known as lipodystrophy, familial partial, is related to lipodystrophy, familial partial, type 1 and lipodystrophy, familial partial, type 3, 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 Cathartics have been mentioned in the context of this disorder. Affiliated tissues include skin, adipocyte and liver, and related phenotypes are behavior/neurological and adipose tissue

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

Genetics Home Reference : 25 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.

Wikipedia : 76 Familial partial lipodystrophy (FPL), also known as Köbberling�??Dunnigan syndrome, is a rare genetic... 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 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 84)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, familial partial, type 1 33.3 INS LEP LMNA PPARG
2 lipodystrophy, familial partial, type 3 33.2 AGPAT2 BSCL2 LMNA PPARG
3 lipodystrophy, familial partial, type 2 33.0 AGPAT2 INS LEP LMNA
4 lipodystrophy, congenital generalized, type 2 31.3 AGPAT2 BSCL2 CAVIN1 LMNA PPARG
5 congenital generalized lipodystrophy 31.1 AGPAT2 BSCL2 CAVIN1 LEP LMNA
6 lipodystrophy, congenital generalized, type 1 31.0 AGPAT2 BSCL2 INS LEP LMNA
7 emery-dreifuss muscular dystrophy 30.0 EMD LMNA
8 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.0 AGPAT2 BSCL2 INS LMNA
9 fatty liver disease, nonalcoholic 1 29.8 INS LEP
10 familial partial lipodystrophy due to akt2 mutations 12.3
11 lipodystrophy, familial partial, type 4 12.2
12 lipodystrophy, familial partial, type 5 12.1
13 lipodystrophy, familial partial, type 6 12.1
14 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 11.2
15 pancreatitis 10.2
16 emerinopathy 10.1 EMD LMNA
17 cardiomyopathy, dilated, 1h 10.1 EMD LMNA
18 myopathy, proximal, and ophthalmoplegia 10.1 EMD LMNA
19 emery-dreifuss muscular dystrophy 1, x-linked 10.1 EMD LMNA
20 autosomal dominant limb-girdle muscular dystrophy 10.1 EMD LMNA
21 autosomal dominant limb-girdle muscular dystrophy type 1b 10.1 EMD LMNA
22 welander distal myopathy 10.1
23 maturity-onset diabetes of the young, type 10 10.1 INS PPARG
24 pelger-huet anomaly 10.1 EMD LMNA
25 idiopathic edema 10.1 INS PPARG
26 cardiomyopathy, dilated, 1a 10.1 EMD LMNA
27 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.1 EMD LMNA
28 polydactyly 10.0
29 ulcerative colitis 10.0
30 colitis 10.0
31 tremor 10.0
32 mandibuloacral dysplasia with type a lipodystrophy 10.0
33 adrenomyodystrophy 10.0
34 polycystic ovary syndrome 10.0
35 sleep apnea 10.0
36 degos 'en cocarde' erythrokeratoderma 10.0
37 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.0 INS LEP
38 arrhythmogenic right ventricular cardiomyopathy 10.0 EMD LMNA PPARG
39 nonalcoholic steatohepatitis 10.0 INS LEP
40 adiposis dolorosa 10.0 AGPAT2 CIDEC
41 spastic paraplegia 17, autosomal dominant 9.9 AGPAT2 BSCL2
42 monogenic diabetes 9.9 BSCL2 INS
43 fetal macrosomia 9.9 INS LEP
44 apnea, obstructive sleep 9.9 INS LEP
45 abdominal obesity-metabolic syndrome 1 9.9 INS LEP PPARG
46 endocrine pancreas disease 9.9 INS LEP
47 prediabetes syndrome 9.9 INS LEP PPARG
48 3-hydroxyacyl-coa dehydrogenase deficiency 9.9 INS LEP PPARG
49 arteries, anomalies of 9.9 INS LEP PPARG
50 lipid metabolism disorder 9.9 INS LEP PPARG

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

MGI Mouse Phenotypes related to Familial Partial Lipodystrophy:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 AGPAT2 BSCL2 CAVIN1 CIDEC EMD INS
2 adipose tissue MP:0005375 10.14 AGPAT2 BSCL2 CIDEC INS LEP LIPE
3 cardiovascular system MP:0005385 10.11 BSCL2 CAVIN1 EMD INS LEP LIPE
4 cellular MP:0005384 10.1 BSCL2 CAVIN1 EMD INS LEP LIPE
5 homeostasis/metabolism MP:0005376 10.1 AGPAT2 BSCL2 CAVIN1 CIDEC EMD INS
6 growth/size/body region MP:0005378 10.09 AGPAT2 BSCL2 CAVIN1 CIDEC INS LEP
7 endocrine/exocrine gland MP:0005379 10 AGPAT2 BSCL2 INS LEP LIPE LMNA
8 integument MP:0010771 9.97 AGPAT2 BSCL2 CIDEC INS LEP LIPE
9 digestive/alimentary MP:0005381 9.95 AGPAT2 BSCL2 INS LEP LIPE LMNA
10 liver/biliary system MP:0005370 9.92 AGPAT2 BSCL2 CIDEC INS LEP LIPE
11 muscle MP:0005369 9.8 CAVIN1 EMD INS LEP LIPE LMNA
12 renal/urinary system MP:0005367 9.7 AGPAT2 BSCL2 CAVIN1 INS LEP LMNA
13 reproductive system MP:0005389 9.43 BSCL2 INS LEP LIPE LMNA PPARG
14 skeleton MP:0005390 9.1 AGPAT2 BSCL2 INS LEP LMNA PPARG

Drugs & Therapeutics for Familial Partial Lipodystrophy

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
2 Cathartics Phase 2
3 Laxatives Phase 2
4 Gastrointestinal Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The BROADEN Study: A Study of Volanesorsen (Formerly ISIS-APOCIIIRx) in Patients With Familial Partial Lipodystrophy Active, not recruiting NCT02527343 Phase 2, Phase 3 volanesorsen;Placebo
2 Study of Gemcabene in Adults With FPLD Recruiting NCT03508687 Phase 1, Phase 2 300mg Gemcabene;600mg Gemcabene
3 Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients Recruiting NCT02430077 Phase 2 Obeticholic Acid;Placebo
4 Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With With Familial Partial Lipodystrophy (FPL) Active, not recruiting NCT03514420 Phase 2 AKCEA-ANGPTL3-LRX
5 Expanded Access Metreleptin Study Active, not recruiting NCT02404896 Phase 2 Metreleptin
6 CLINICAL PROTOCOL to Investigate the Long-term Safety and Efficacy of Metreleptin in Various Forms of Partial Lipodystrophy Active, not recruiting NCT02654977 Phase 2 Metreleptin
7 Familial Partial Lipodystrophy Study Active, not recruiting NCT02858830 Not Applicable

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:

41
Skin, Adipocyte, Liver, Heart, Pancreas, Ovary, Bone

Publications for Familial Partial Lipodystrophy

Articles related to Familial Partial Lipodystrophy:

(show top 50) (show all 119)
# Title Authors Year
1
The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature. ( 29747582 )
2018
2
A new type of familial partial lipodystrophy: distinctive fat distribution and proteinuria. ( 29733702 )
2018
3
Bone mineral density in familial partial lipodystrophy. ( 29078011 )
2018
4
Clinical Characteristics, Phenotype of Lipodystrophy and a Genetic Analysis of Six Diabetic Japanese Women with Familial Partial Lipodystrophy in a Diabetic Outpatient Clinic. ( 29607946 )
2018
5
Endoplasmic reticulum stress activation in adipose tissue induces metabolic syndrome in individuals with familial partial lipodystrophy of the Dunnigan type. ( 29449893 )
2018
6
Polycystic ovary syndrome in familial partial lipodystrophy type 2 (FPLD2): basic and clinical aspects. ( 30131000 )
2018
7
Pancreatic fat deposition is increased and related to beta-cell function in women with familial partial lipodystrophy. ( 30275911 )
2018
8
Insulin secretory defect in familial partial lipodystrophy Type 2 and successful long-term treatment with a glucagon-like peptide 1 receptor agonist. ( 29044799 )
2017
9
Roux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1. ( 28973478 )
2017
10
Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045Ca88>a88T LMNA mutation. ( 28620495 )
2017
11
Dipeptidyl peptidase-4 levels are increased and partially related to body fat distribution in patients with familial partial lipodystrophy type 2. ( 28450900 )
2017
12
Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy. ( 28641778 )
2017
13
A Case of Familial Partial Lipodystrophy: From Clinical Phenotype to Genetics. ( 27026223 )
2016
14
Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -I^ (PPARG) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutations. ( 26756202 )
2016
15
Type 1 familial partial lipodystrophy: understanding the KAPbberling syndrome. ( 27473102 )
2016
16
Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl. ( 26976018 )
2016
17
An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease. ( 27504462 )
2016
18
Clinical Utility Gene Card for: Familial partial lipodystrophy. ( 27485410 )
2016
19
A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N). ( 26775134 )
2016
20
Familial partial lipodystrophy presenting as metabolic syndrome. ( 27919367 )
2016
21
LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A. ( 27841971 )
2016
22
Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy. ( 27376152 )
2016
23
Erratum: Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation. ( 25774228 )
2015
24
Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3. ( 26119484 )
2015
25
Familial partial lipodystrophy type 3: a new mutation on the PPARG gene. ( 26158656 )
2015
26
Familial partial lipodystrophy, Dunnigan variety - challenges for patient care during pregnancy: a case report. ( 25885670 )
2015
27
Evaluation of epicardial adipose tissue in familial partial lipodystrophy. ( 25859279 )
2015
28
The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. ( 25524705 )
2015
29
Familial partial lipodystrophy as differential diagnosis of polycystic ovary syndrome. ( 26662654 )
2015
30
A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. ( 25475467 )
2014
31
A woman with familial partial lipodystrophy and the complications of her four pregnancies. ( 27512436 )
2014
32
Structural basis of the transactivation deficiency of the human PPARI^ F360L mutant associated with familial partial lipodystrophy. ( 25004973 )
2014
33
Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy. ( 25114292 )
2014
34
Primary intestinal follicular lymphoma and premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy. ( 24739605 )
2014
35
Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family. ( 24002959 )
2013
36
Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations. ( 23243001 )
2013
37
[Biochemical, hormonal and genetic evaluation of the families of two Brazilian patients with type 2 familial partial lipodystrophy]. ( 24343626 )
2013
38
Increased skeletal muscle volume in women with familial partial lipodystrophy, Dunnigan variety. ( 23783098 )
2013
39
Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA. ( 24080738 )
2013
40
Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. ( 22935701 )
2012
41
A new method for body fat evaluation, body adiposity index, is useful in women with familial partial lipodystrophy. ( 22095113 )
2012
42
Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation. ( 22938045 )
2012
43
Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations. ( 21883346 )
2012
44
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
45
Quantitative whole-body MRI in familial partial lipodystrophy type 2: changes in adipose tissue distribution coincide with biochemical improvement. ( 23096204 )
2012
46
Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene. ( 22276265 )
2012
47
Premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy and hypertriglyceridemia. ( 22989829 )
2012
48
Comparison of efficacy and safety of leptin replacement therapy in moderately and severely hypoleptinemic patients with familial partial lipodystrophy of the Dunnigan variety. ( 22170723 )
2012
49
Breast augmentation in Familial Partial Lipodystrophy: a case report. ( 21306965 )
2011
50
Successful treatment for the Dunnigan-type familial partial lipodystrophy with Roux-en-Y gastric bypass. ( 21521325 )
2011

Variations for Familial Partial Lipodystrophy

ClinVar genetic disease variations for Familial Partial Lipodystrophy:

6 (show top 50) (show all 154)
# Gene Variation Type Significance SNP ID Assembly Location
1 PPARG NM_015869.4(PPARG): c.1484C> T (p.Pro495Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121909244 GRCh37 Chromosome 3, 12475610: 12475610
2 PPARG NM_015869.4(PPARG): c.1484C> T (p.Pro495Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121909244 GRCh38 Chromosome 3, 12434111: 12434111
3 PPARG NM_015869.4(PPARG): c.1431C> T (p.His477=) single nucleotide variant Likely benign rs3856806 GRCh37 Chromosome 3, 12475557: 12475557
4 PPARG NM_015869.4(PPARG): c.1431C> T (p.His477=) single nucleotide variant Likely benign rs3856806 GRCh38 Chromosome 3, 12434058: 12434058
5 LMNA NM_005572.3(LMNA): c.51C> T (p.Ser17=) single nucleotide variant Benign/Likely benign rs11549668 GRCh37 Chromosome 1, 156084760: 156084760
6 LMNA NM_005572.3(LMNA): c.51C> T (p.Ser17=) single nucleotide variant Benign/Likely benign rs11549668 GRCh38 Chromosome 1, 156114969: 156114969
7 LMNA NM_170707.3(LMNA): c.810+13G> T single nucleotide variant Benign rs11264444 GRCh37 Chromosome 1, 156104779: 156104779
8 LMNA NM_170707.3(LMNA): c.810+13G> T single nucleotide variant Benign rs11264444 GRCh38 Chromosome 1, 156134988: 156134988
9 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh37 Chromosome 1, 156106185: 156106185
10 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh38 Chromosome 1, 156136394: 156136394
11 LMNA NM_170707.3(LMNA): c.1566C> T (p.Cys522=) single nucleotide variant Conflicting interpretations of pathogenicity rs149339264 GRCh37 Chromosome 1, 156106981: 156106981
12 LMNA NM_170707.3(LMNA): c.1566C> T (p.Cys522=) single nucleotide variant Conflicting interpretations of pathogenicity rs149339264 GRCh38 Chromosome 1, 156137190: 156137190
13 LMNA NM_005572.3(LMNA): c.1584G> A (p.Thr528=) single nucleotide variant Benign/Likely benign rs80356812 GRCh37 Chromosome 1, 156106999: 156106999
14 LMNA NM_005572.3(LMNA): c.1584G> A (p.Thr528=) single nucleotide variant Benign/Likely benign rs80356812 GRCh38 Chromosome 1, 156137208: 156137208
15 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh37 Chromosome 1, 156107534: 156107534
16 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh38 Chromosome 1, 156137743: 156137743
17 LMNA NM_170707.3(LMNA): c.612G> A (p.Leu204=) single nucleotide variant Benign/Likely benign rs12117552 GRCh37 Chromosome 1, 156104292: 156104292
18 LMNA NM_170707.3(LMNA): c.612G> A (p.Leu204=) single nucleotide variant Benign/Likely benign rs12117552 GRCh38 Chromosome 1, 156134501: 156134501
19 LMNA NM_170707.3(LMNA): c.811-13T> A single nucleotide variant Benign/Likely benign rs80356809 GRCh37 Chromosome 1, 156104965: 156104965
20 LMNA NM_170707.3(LMNA): c.811-13T> A single nucleotide variant Benign/Likely benign rs80356809 GRCh38 Chromosome 1, 156135174: 156135174
21 LMNA NM_005572.3(LMNA): c.861T> C (p.Ala287=) single nucleotide variant Benign rs538089 GRCh37 Chromosome 1, 156105028: 156105028
22 LMNA NM_005572.3(LMNA): c.861T> C (p.Ala287=) single nucleotide variant Benign rs538089 GRCh38 Chromosome 1, 156135237: 156135237
23 LMNA NM_170707.3(LMNA): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607603 GRCh37 Chromosome 1, 156105904: 156105904
24 LMNA NM_170707.3(LMNA): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607603 GRCh38 Chromosome 1, 156136113: 156136113
25 PPARG NM_015869.4(PPARG): c.34C> G (p.Pro12Ala) single nucleotide variant Likely benign rs1801282 GRCh37 Chromosome 3, 12393125: 12393125
26 PPARG NM_015869.4(PPARG): c.34C> G (p.Pro12Ala) single nucleotide variant Likely benign rs1801282 GRCh38 Chromosome 3, 12351626: 12351626
27 CAVIN1 NM_012232.5(CAVIN1): c.843G> A (p.Leu281=) single nucleotide variant Likely benign rs35648297 GRCh37 Chromosome 17, 40557035: 40557035
28 CAVIN1 NM_012232.5(CAVIN1): c.843G> A (p.Leu281=) single nucleotide variant Likely benign rs35648297 GRCh38 Chromosome 17, 42405017: 42405017
29 CAVIN1 NM_012232.5(CAVIN1): c.927G> A (p.Ala309=) single nucleotide variant Likely benign rs112332573 GRCh37 Chromosome 17, 40556951: 40556951
30 CAVIN1 NM_012232.5(CAVIN1): c.927G> A (p.Ala309=) single nucleotide variant Likely benign rs112332573 GRCh38 Chromosome 17, 42404933: 42404933
31 CAVIN1 NM_012232.5(CAVIN1): c.168C> A (p.Ser56Arg) single nucleotide variant Uncertain significance rs139531639 GRCh37 Chromosome 17, 40574948: 40574948
32 CAVIN1 NM_012232.5(CAVIN1): c.168C> A (p.Ser56Arg) single nucleotide variant Uncertain significance rs139531639 GRCh38 Chromosome 17, 42422930: 42422930
33 LMNA NM_170707.3(LMNA): c.1551G> A (p.Gln517=) single nucleotide variant Conflicting interpretations of pathogenicity rs41314035 GRCh37 Chromosome 1, 156106966: 156106966
34 LMNA NM_170707.3(LMNA): c.1551G> A (p.Gln517=) single nucleotide variant Conflicting interpretations of pathogenicity rs41314035 GRCh38 Chromosome 1, 156137175: 156137175
35 CAVIN1 NM_012232.5(CAVIN1): c.923A> G (p.Tyr308Cys) single nucleotide variant Uncertain significance rs146799286 GRCh37 Chromosome 17, 40556955: 40556955
36 CAVIN1 NM_012232.5(CAVIN1): c.923A> G (p.Tyr308Cys) single nucleotide variant Uncertain significance rs146799286 GRCh38 Chromosome 17, 42404937: 42404937
37 LMNA NM_005572.3(LMNA): c.-138T> C single nucleotide variant Uncertain significance rs886045359 GRCh37 Chromosome 1, 156084572: 156084572
38 LMNA NM_005572.3(LMNA): c.-138T> C single nucleotide variant Uncertain significance rs886045359 GRCh38 Chromosome 1, 156114781: 156114781
39 LMNA NM_005572.3(LMNA): c.-62C> A single nucleotide variant Uncertain significance rs886045361 GRCh37 Chromosome 1, 156084648: 156084648
40 LMNA NM_005572.3(LMNA): c.-62C> A single nucleotide variant Uncertain significance rs886045361 GRCh38 Chromosome 1, 156114857: 156114857
41 LMNA NM_005572.3(LMNA): c.295C> A (p.Arg99Ser) single nucleotide variant Uncertain significance rs886045364 GRCh37 Chromosome 1, 156085004: 156085004
42 LMNA NM_005572.3(LMNA): c.295C> A (p.Arg99Ser) single nucleotide variant Uncertain significance rs886045364 GRCh38 Chromosome 1, 156115213: 156115213
43 LMNA NM_005572.3(LMNA): c.936+12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199881992 GRCh37 Chromosome 1, 156105115: 156105115
44 LMNA NM_005572.3(LMNA): c.936+12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199881992 GRCh38 Chromosome 1, 156135324: 156135324
45 LMNA NM_005572.3(LMNA): c.1488G> A (p.Thr496=) single nucleotide variant Benign/Likely benign rs375516745 GRCh37 Chromosome 1, 156106819: 156106819
46 LMNA NM_005572.3(LMNA): c.1488G> A (p.Thr496=) single nucleotide variant Benign/Likely benign rs375516745 GRCh38 Chromosome 1, 156137028: 156137028
47 LMNA NM_005572.3(LMNA): c.-226C> T single nucleotide variant Uncertain significance rs886045354 GRCh37 Chromosome 1, 156084484: 156084484
48 LMNA NM_005572.3(LMNA): c.-226C> T single nucleotide variant Uncertain significance rs886045354 GRCh38 Chromosome 1, 156114693: 156114693
49 LMNA NM_005572.3(LMNA): c.-225C> A single nucleotide variant Uncertain significance rs886045355 GRCh37 Chromosome 1, 156084485: 156084485
50 LMNA NM_005572.3(LMNA): c.-225C> A single nucleotide variant Uncertain significance rs886045355 GRCh38 Chromosome 1, 156114694: 156114694

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:

37
# 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

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 endoplasmic reticulum GO:0005783 9.02 AGPAT2 BSCL2 CAVIN1 CIDEC EMD

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 9.5 INS LEP PPARG
2 placenta development GO:0001890 9.49 LEP PPARG
3 positive regulation of cytokine production GO:0001819 9.48 AGPAT2 LEP
4 lipid droplet organization GO:0034389 9.46 BSCL2 CIDEC
5 negative regulation of lipid catabolic process GO:0050995 9.43 BSCL2 INS
6 positive regulation of insulin receptor signaling pathway GO:0046628 9.4 INS LEP
7 regulation of fat cell differentiation GO:0045598 9.37 LEP PPARG
8 mitotic nuclear envelope reassembly GO:0007084 9.26 EMD LMNA
9 negative regulation of acute inflammatory response GO:0002674 9.16 INS PPARG
10 lipid metabolic process GO:0006629 9.02 AGPAT2 BSCL2 LEP LIPE PPARG
11 regulation of protein localization to nucleus GO:1900180 8.96 LEP LMNA

Sources for Familial Partial Lipodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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