MCID: FML012
MIFTS: 52

Familial Partial Lipodystrophy

Categories: Rare diseases, Genetic diseases, Skin diseases, Endocrine diseases, Fetal diseases, Metabolic diseases, Cardiovascular 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 2 and partial lipodystrophy, 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 adipocyte, skin and pancreas, and related phenotypes are behavior/neurological and adipose tissue

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.

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

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 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
Familial Partial Lipodystrophy Due to Akt2 Mutations Lipe-Related Familial Partial Lipodystrophy

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

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, familial partial, type 2 32.6 INS LEP LMNA
2 partial lipodystrophy 31.5 BSCL2 LMNA PPARG
3 apnea, obstructive sleep 29.5 INS LEP
4 emery-dreifuss muscular dystrophy 29.0 EMD LMNA
5 diabetes mellitus, noninsulin-dependent 28.5 INS LEP LIPE LMNA PPARG
6 congenital generalized lipodystrophy 28.4 AGPAT2 BSCL2 CAVIN1 INS LEP LMNA
7 lipodystrophy, familial partial, type 1 12.2
8 familial partial lipodystrophy due to akt2 mutations 12.2
9 lipe-related familial partial lipodystrophy 12.1
10 lipodystrophy, familial partial, type 4 11.9
11 lipodystrophy, familial partial, type 3 11.8
12 lipodystrophy, familial partial, type 5 11.4
13 lipodystrophy, familial partial, type 6 11.3
14 lipodystrophy, congenital generalized, type 2 11.1
15 lipodystrophy, congenital generalized, type 1 11.1
16 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 11.0
17 emerinopathy 10.4 EMD LMNA
18 cardiomyopathy, dilated, 1h 10.4 EMD LMNA
19 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.4 EMD LMNA
20 myopathy, proximal, and ophthalmoplegia 10.4 EMD LMNA
21 muscular dystrophy, limb-girdle, type 1b 10.3 EMD LMNA
22 pelger-huet anomaly 10.3 EMD LMNA
23 autosomal dominant limb-girdle muscular dystrophy 10.3 EMD LMNA
24 cardiomyopathy, dilated, 1a 10.2 EMD LMNA
25 idiopathic edema 10.2 INS PPARG
26 muscular dystrophy, congenital, lmna-related 10.0 EMD LMNA
27 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.0 INS LEP
28 nonalcoholic steatohepatitis 9.9 INS LEP
29 mandibuloacral dysplasia with type a lipodystrophy 9.9
30 adrenomyodystrophy 9.9
31 sleep apnea 9.9
32 adiposis dolorosa 9.9 AGPAT2 CIDEC
33 spastic paraplegia 17, autosomal dominant 9.8 AGPAT2 BSCL2
34 fetal macrosomia 9.8 INS LEP
35 endocrine pancreas disease 9.8 INS LEP
36 focal segmental glomerulosclerosis 1 9.7
37 fatty liver disease, nonalcoholic 1 9.7
38 diabetes mellitus 9.7
39 dilated cardiomyopathy 9.7
40 focal segmental glomerulosclerosis 9.7
41 follicular lymphoma 9.7
42 glomerulonephritis 9.7
43 hepatitis 9.7
44 polycystic ovary syndrome 9.7
45 lymphoma 9.7
46 pre-eclampsia 9.7
47 eclampsia 9.7
48 vascular disease 9.7
49 thyroiditis 9.7
50 muscular dystrophy 9.7

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 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 AGPAT2 BSCL2 CAVIN1 CIDEC EMD INS
2 adipose tissue MP:0005375 10.13 AGPAT2 BSCL2 CIDEC INS LEP LIPE
3 cardiovascular system MP:0005385 10.1 BSCL2 CAVIN1 EMD INS LEP LIPE
4 cellular MP:0005384 10.08 BSCL2 CAVIN1 EMD INS LEP LIPE
5 homeostasis/metabolism MP:0005376 10.07 AGPAT2 BSCL2 CAVIN1 CIDEC EMD INS
6 growth/size/body region MP:0005378 10.06 LIPE LMNA PPARG AGPAT2 BSCL2 CAVIN1
7 endocrine/exocrine gland MP:0005379 9.98 AGPAT2 BSCL2 INS LEP LIPE LMNA
8 digestive/alimentary MP:0005381 9.93 AGPAT2 BSCL2 INS LEP LIPE LMNA
9 integument MP:0010771 9.92 AGPAT2 BSCL2 CIDEC INS LEP LIPE
10 liver/biliary system MP:0005370 9.86 PPARG AGPAT2 BSCL2 CIDEC INS LEP
11 muscle MP:0005369 9.7 CAVIN1 EMD INS LEP LIPE LMNA
12 renal/urinary system MP:0005367 9.5 AGPAT2 BSCL2 CAVIN1 INS LEP LMNA
13 reproductive system MP:0005389 9.1 LMNA PPARG BSCL2 INS LEP LIPE

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 Gastrointestinal Agents Phase 2
4 Laxatives 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 AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With With Familial Partial Lipodystrophy (FPL) Recruiting NCT03514420 Phase 2 AKCEA-ANGPTL3-LRX
3 Study of Gemcabene in Adults With FPLD Recruiting NCT03508687 Phase 1, Phase 2 300mg Gemcabene;600mg Gemcabene
4 Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients Recruiting NCT02430077 Phase 2 Obeticholic Acid;Placebo
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 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
Adipocyte, Skin, Pancreas, Liver, Heart, Ovary, Thyroid

Publications for Familial Partial Lipodystrophy

Articles related to Familial Partial Lipodystrophy:

(show top 50) (show all 118)
# 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
Insulin secretory defect in familial partial lipodystrophy Type 2 and successful long-term treatment with a glucagon-like peptide 1 receptor agonist. ( 29044799 )
2017
7
Roux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1. ( 28973478 )
2017
8
Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045Ca88>a88T LMNA mutation. ( 28620495 )
2017
9
Dipeptidyl peptidase-4 levels are increased and partially related to body fat distribution in patients with familial partial lipodystrophy type 2. ( 28450900 )
2017
10
Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy. ( 28641778 )
2017
11
A Case of Familial Partial Lipodystrophy: From Clinical Phenotype to Genetics. ( 27026223 )
2016
12
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
13
Type 1 familial partial lipodystrophy: understanding the KAPbberling syndrome. ( 27473102 )
2016
14
Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl. ( 26976018 )
2016
15
An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease. ( 27504462 )
2016
16
Clinical Utility Gene Card for: Familial partial lipodystrophy. ( 27485410 )
2016
17
A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N). ( 26775134 )
2016
18
Familial partial lipodystrophy presenting as metabolic syndrome. ( 27919367 )
2016
19
LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A. ( 27841971 )
2016
20
Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy. ( 27376152 )
2016
21
Erratum: Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation. ( 25774228 )
2015
22
Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3. ( 26119484 )
2015
23
Familial partial lipodystrophy type 3: a new mutation on the PPARG gene. ( 26158656 )
2015
24
Familial partial lipodystrophy, Dunnigan variety - challenges for patient care during pregnancy: a case report. ( 25885670 )
2015
25
Evaluation of epicardial adipose tissue in familial partial lipodystrophy. ( 25859279 )
2015
26
The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. ( 25524705 )
2015
27
Familial partial lipodystrophy as differential diagnosis of polycystic ovary syndrome. ( 26662654 )
2015
28
A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. ( 25475467 )
2014
29
A woman with familial partial lipodystrophy and the complications of her four pregnancies. ( 27512436 )
2014
30
Structural basis of the transactivation deficiency of the human PPARI^ F360L mutant associated with familial partial lipodystrophy. ( 25004973 )
2014
31
Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy. ( 25114292 )
2014
32
Primary intestinal follicular lymphoma and premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy. ( 24739605 )
2014
33
Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family. ( 24002959 )
2013
34
Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations. ( 23243001 )
2013
35
[Biochemical, hormonal and genetic evaluation of the families of two Brazilian patients with type 2 familial partial lipodystrophy]. ( 24343626 )
2013
36
Increased skeletal muscle volume in women with familial partial lipodystrophy, Dunnigan variety. ( 23783098 )
2013
37
Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA. ( 24080738 )
2013
38
Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. ( 22935701 )
2012
39
A new method for body fat evaluation, body adiposity index, is useful in women with familial partial lipodystrophy. ( 22095113 )
2012
40
Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation. ( 22938045 )
2012
41
Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations. ( 21883346 )
2012
42
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
43
Quantitative whole-body MRI in familial partial lipodystrophy type 2: changes in adipose tissue distribution coincide with biochemical improvement. ( 23096204 )
2012
44
Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene. ( 22276265 )
2012
45
Premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy and hypertriglyceridemia. ( 22989829 )
2012
46
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
47
Breast augmentation in Familial Partial Lipodystrophy: a case report. ( 21306965 )
2011
48
Successful treatment for the Dunnigan-type familial partial lipodystrophy with Roux-en-Y gastric bypass. ( 21521325 )
2011
49
Visual vignette. Type 2 familial partial lipodystrophy syndrome of the Dunnigan variety. ( 21454231 )
2011
50
Characterisation of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-associated PPARI^ mutation (Y151C). ( 21479595 )
2011

Variations for Familial Partial Lipodystrophy

ClinVar genetic disease variations for Familial Partial Lipodystrophy:

6
(show top 50) (show all 124)
# Gene Variation Type Significance SNP ID Assembly Location
1 CAVIN1 NM_012232.5(CAVIN1): c.168C> A (p.Ser56Arg) single nucleotide variant Uncertain significance rs139531639 GRCh37 Chromosome 17, 40574948: 40574948
2 CAVIN1 NM_012232.5(CAVIN1): c.168C> A (p.Ser56Arg) single nucleotide variant Uncertain significance rs139531639 GRCh38 Chromosome 17, 42422930: 42422930
3 LMNA NM_170707.3(LMNA): c.1551G> A (p.Gln517=) single nucleotide variant Conflicting interpretations of pathogenicity rs41314035 GRCh37 Chromosome 1, 156106966: 156106966
4 LMNA NM_170707.3(LMNA): c.1551G> A (p.Gln517=) single nucleotide variant Conflicting interpretations of pathogenicity rs41314035 GRCh38 Chromosome 1, 156137175: 156137175
5 CAVIN1 NM_012232.5(CAVIN1): c.923A> G (p.Tyr308Cys) single nucleotide variant Uncertain significance rs146799286 GRCh37 Chromosome 17, 40556955: 40556955
6 CAVIN1 NM_012232.5(CAVIN1): c.923A> G (p.Tyr308Cys) single nucleotide variant Uncertain significance rs146799286 GRCh38 Chromosome 17, 42404937: 42404937
7 LMNA NM_005572.3(LMNA): c.-138T> C single nucleotide variant Uncertain significance rs886045359 GRCh37 Chromosome 1, 156084572: 156084572
8 LMNA NM_005572.3(LMNA): c.-138T> C single nucleotide variant Uncertain significance rs886045359 GRCh38 Chromosome 1, 156114781: 156114781
9 LMNA NM_005572.3(LMNA): c.-62C> A single nucleotide variant Uncertain significance rs886045361 GRCh37 Chromosome 1, 156084648: 156084648
10 LMNA NM_005572.3(LMNA): c.-62C> A single nucleotide variant Uncertain significance rs886045361 GRCh38 Chromosome 1, 156114857: 156114857
11 LMNA NM_005572.3(LMNA): c.295C> A (p.Arg99Ser) single nucleotide variant Uncertain significance rs886045364 GRCh37 Chromosome 1, 156085004: 156085004
12 LMNA NM_005572.3(LMNA): c.295C> A (p.Arg99Ser) single nucleotide variant Uncertain significance rs886045364 GRCh38 Chromosome 1, 156115213: 156115213
13 LMNA NM_005572.3(LMNA): c.936+12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199881992 GRCh37 Chromosome 1, 156105115: 156105115
14 LMNA NM_005572.3(LMNA): c.936+12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199881992 GRCh38 Chromosome 1, 156135324: 156135324
15 LMNA NM_005572.3(LMNA): c.1488G> A (p.Thr496=) single nucleotide variant Benign/Likely benign rs375516745 GRCh37 Chromosome 1, 156106819: 156106819
16 LMNA NM_005572.3(LMNA): c.1488G> A (p.Thr496=) single nucleotide variant Benign/Likely benign rs375516745 GRCh38 Chromosome 1, 156137028: 156137028
17 LMNA NM_005572.3(LMNA): c.-226C> T single nucleotide variant Uncertain significance rs886045354 GRCh37 Chromosome 1, 156084484: 156084484
18 LMNA NM_005572.3(LMNA): c.-226C> T single nucleotide variant Uncertain significance rs886045354 GRCh38 Chromosome 1, 156114693: 156114693
19 LMNA NM_005572.3(LMNA): c.-225C> A single nucleotide variant Uncertain significance rs886045355 GRCh37 Chromosome 1, 156084485: 156084485
20 LMNA NM_005572.3(LMNA): c.-225C> A single nucleotide variant Uncertain significance rs886045355 GRCh38 Chromosome 1, 156114694: 156114694
21 LMNA NM_005572.3(LMNA): c.-210T> C single nucleotide variant Uncertain significance rs886045356 GRCh37 Chromosome 1, 156084500: 156084500
22 LMNA NM_005572.3(LMNA): c.-210T> C single nucleotide variant Uncertain significance rs886045356 GRCh38 Chromosome 1, 156114709: 156114709
23 LMNA NM_005572.3(LMNA): c.-183C> A single nucleotide variant Uncertain significance rs886045357 GRCh37 Chromosome 1, 156084527: 156084527
24 LMNA NM_005572.3(LMNA): c.-183C> A single nucleotide variant Uncertain significance rs886045357 GRCh38 Chromosome 1, 156114736: 156114736
25 LMNA NM_005572.3(LMNA): c.-142C> A single nucleotide variant Uncertain significance rs886045358 GRCh37 Chromosome 1, 156084568: 156084568
26 LMNA NM_005572.3(LMNA): c.-142C> A single nucleotide variant Uncertain significance rs886045358 GRCh38 Chromosome 1, 156114777: 156114777
27 LMNA NM_005572.3(LMNA): c.-128T> C single nucleotide variant Likely benign rs80356803 GRCh37 Chromosome 1, 156084582: 156084582
28 LMNA NM_005572.3(LMNA): c.-128T> C single nucleotide variant Likely benign rs80356803 GRCh38 Chromosome 1, 156114791: 156114791
29 LMNA NM_005572.3(LMNA): c.-109G> T single nucleotide variant Uncertain significance rs886045360 GRCh37 Chromosome 1, 156084601: 156084601
30 LMNA NM_005572.3(LMNA): c.-109G> T single nucleotide variant Uncertain significance rs886045360 GRCh38 Chromosome 1, 156114810: 156114810
31 LMNA NM_005572.3(LMNA): c.-88G> T single nucleotide variant Likely benign rs115800510 GRCh37 Chromosome 1, 156084622: 156084622
32 LMNA NM_005572.3(LMNA): c.-88G> T single nucleotide variant Likely benign rs115800510 GRCh38 Chromosome 1, 156114831: 156114831
33 LMNA NM_005572.3(LMNA): c.-5C> A single nucleotide variant Uncertain significance rs886045362 GRCh37 Chromosome 1, 156084705: 156084705
34 LMNA NM_005572.3(LMNA): c.-5C> A single nucleotide variant Uncertain significance rs886045362 GRCh38 Chromosome 1, 156114914: 156114914
35 LMNA NM_005572.3(LMNA): c.514-11C> T single nucleotide variant Uncertain significance rs886045365 GRCh37 Chromosome 1, 156104183: 156104183
36 LMNA NM_005572.3(LMNA): c.514-11C> T single nucleotide variant Uncertain significance rs886045365 GRCh38 Chromosome 1, 156134392: 156134392
37 LMNA NM_005572.3(LMNA): c.985C> A (p.Arg329Ser) single nucleotide variant Uncertain significance rs775159300 GRCh37 Chromosome 1, 156105740: 156105740
38 LMNA NM_005572.3(LMNA): c.985C> A (p.Arg329Ser) single nucleotide variant Uncertain significance rs775159300 GRCh38 Chromosome 1, 156135949: 156135949
39 LMNA NM_005572.3(LMNA): c.*36G> A single nucleotide variant Likely benign rs557334569 GRCh37 Chromosome 1, 156107591: 156107591
40 LMNA NM_005572.3(LMNA): c.*36G> A single nucleotide variant Likely benign rs557334569 GRCh38 Chromosome 1, 156137800: 156137800
41 LMNA NM_005572.3(LMNA): c.294G> A (p.Glu98=) single nucleotide variant Conflicting interpretations of pathogenicity rs886045363 GRCh37 Chromosome 1, 156085003: 156085003
42 LMNA NM_005572.3(LMNA): c.294G> A (p.Glu98=) single nucleotide variant Conflicting interpretations of pathogenicity rs886045363 GRCh38 Chromosome 1, 156115212: 156115212
43 PPARG NM_015869.4(PPARG): c.240C> T (p.Asp80=) single nucleotide variant Uncertain significance rs112174008 GRCh37 Chromosome 3, 12421360: 12421360
44 PPARG NM_015869.4(PPARG): c.240C> T (p.Asp80=) single nucleotide variant Uncertain significance rs112174008 GRCh38 Chromosome 3, 12379861: 12379861
45 PPARG NM_015869.4(PPARG): c.288C> T (p.Asp96=) single nucleotide variant Uncertain significance rs753817211 GRCh38 Chromosome 3, 12379909: 12379909
46 PPARG NM_015869.4(PPARG): c.288C> T (p.Asp96=) single nucleotide variant Uncertain significance rs753817211 GRCh37 Chromosome 3, 12421408: 12421408
47 PPARG NM_015869.4(PPARG): c.507G> A (p.Leu169=) single nucleotide variant Uncertain significance rs41415646 GRCh38 Chromosome 3, 12392640: 12392640
48 PPARG NM_015869.4(PPARG): c.507G> A (p.Leu169=) single nucleotide variant Uncertain significance rs41415646 GRCh37 Chromosome 3, 12434139: 12434139
49 PPARG NM_015869.4(PPARG): c.1206C> A (p.Phe402Leu) single nucleotide variant Uncertain significance rs886057902 GRCh38 Chromosome 3, 12417090: 12417090
50 PPARG NM_015869.4(PPARG): c.1206C> A (p.Phe402Leu) single nucleotide variant Uncertain significance rs886057902 GRCh37 Chromosome 3, 12458589: 12458589

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 12)
# Name GO ID Score Top Affiliating Genes
1 mitotic nuclear envelope disassembly GO:0007077 9.51 EMD LMNA
2 glucose homeostasis GO:0042593 9.5 INS LEP PPARG
3 placenta development GO:0001890 9.49 LEP PPARG
4 positive regulation of cytokine production GO:0001819 9.48 AGPAT2 LEP
5 lipid particle organization GO:0034389 9.46 BSCL2 CIDEC
6 negative regulation of lipid catabolic process GO:0050995 9.43 BSCL2 INS
7 positive regulation of insulin receptor signaling pathway GO:0046628 9.4 INS LEP
8 regulation of fat cell differentiation GO:0045598 9.37 LEP PPARG
9 mitotic nuclear envelope reassembly GO:0007084 9.26 EMD LMNA
10 negative regulation of acute inflammatory response GO:0002674 9.16 INS PPARG
11 lipid metabolic process GO:0006629 9.02 AGPAT2 BSCL2 LEP LIPE PPARG
12 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
45 MESH via Orphanet
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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