MCID: FML012
MIFTS: 53

Familial Partial Lipodystrophy

Categories: Rare diseases, Endocrine diseases, Skin diseases, Genetic 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 49 24 36 28 14 69
Lipodystrophy, Familial Partial 24 51 41
Familial Partial Lipodystrophy, Type 2 69
Dunnigan-Kobberling Syndrome 24
Kobberling-Dunnigan Syndrome 24
Koberling-Dunnigan Syndrome 12
Dunnigan Syndrome 12
Fpld 49
Fpl 24

Classifications:



External Ids:

Disease Ontology 12 DOID:0050440
MeSH 41 D052496
NCIt 46 C84708
SNOMED-CT 64 49292002
KEGG 36 H00420

Summaries for Familial Partial Lipodystrophy

NIH Rare Diseases : 49 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. Last updated: 10/8/2016

MalaCards based summary : Familial Partial Lipodystrophy, also known as lipodystrophy, familial partial, is related to lipodystrophy, familial partial, type 2 and apnea, obstructive sleep, 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

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

Genetics Home Reference : 24 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 : 72 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 82)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, familial partial, type 2 32.9 INS LEP LMNA
2 apnea, obstructive sleep 29.9 INS LEP
3 emery-dreifuss muscular dystrophy 29.8 EMD LMNA
4 congenital generalized lipodystrophy 29.5 AGPAT2 BSCL2 CAV1 INS LEP LMNA
5 body mass index quantitative trait locus 11 29.0 INS LEP PLIN1 PPARG
6 lipodystrophy 28.1 AGPAT2 BSCL2 CAV1 INS LEP LMNA
7 lipodystrophy, familial partial, type 1 12.2
8 familial partial lipodystrophy due to akt2 mutations 12.2
9 lipodystrophy, familial partial, type 3 12.1
10 lipe-related familial partial lipodystrophy 12.1
11 lipodystrophy, familial partial, type 4 11.9
12 lipodystrophy, familial partial, type 5 11.4
13 lipodystrophy, familial partial, type 6 11.2
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 10.3 EMD LMNA
18 cardiomyopathy, dilated, 1h 10.3 EMD LMNA
19 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.3 EMD LMNA
20 myopathy, proximal, and ophthalmoplegia 10.3 EMD LMNA
21 muscular dystrophy, limb-girdle, type 1b 10.3 EMD LMNA
22 pelger-huet anomaly 10.3 EMD LMNA
23 cardiomyopathy, dilated, 1a 10.3 EMD LMNA
24 idiopathic edema 10.1 INS PPARG
25 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.1 INS LEP
26 autosomal dominant limb-girdle muscular dystrophy 10.1 CAV1 EMD LMNA
27 lutheran suppressor, x-linked 10.1 INS LEP
28 3-hydroxyacyl-coa dehydrogenase deficiency 10.1 INS PPARG
29 fetal macrosomia 10.1 INS LEP
30 nonalcoholic steatohepatitis 10.1 INS LEP
31 placental choriocarcinoma 10.0 LEP PLIN1
32 muscular dystrophy, congenital, lmna-related 10.0 EMD LMNA
33 alstrom syndrome 10.0 INS LEP
34 endocrine pancreas disease 10.0 INS LEP
35 anovulation 10.0 INS LEP
36 muscle tissue disease 10.0 EMD LMNA
37 pigmentation disease 10.0 AGPAT2 INS
38 pancreas disease 9.9 INS LEP
39 acanthosis nigricans 9.9 INS LEP LMNA
40 abdominal obesity-metabolic syndrome 1 9.9 INS LEP PPARG
41 mandibuloacral dysplasia with type a lipodystrophy 9.9
42 adrenomyodystrophy 9.9
43 body mass index quantitative trait locus 9 9.9
44 body mass index quantitative trait locus 8 9.9
45 body mass index quantitative trait locus 4 9.9
46 body mass index quantitative trait locus 10 9.9
47 body mass index quantitative trait locus 7 9.9
48 body mass index quantitative trait locus 12 9.9
49 body mass index quantitative trait locus 14 9.9
50 body mass index quantitative trait locus 18 9.9

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:

43 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.2 AGPAT2 BSCL2 CAV1 EMD INS LEP
2 adipose tissue MP:0005375 10.16 AGPAT2 BSCL2 CAV1 INS LEP LMNA
3 homeostasis/metabolism MP:0005376 10.09 AGPAT2 BSCL2 CAV1 EMD INS LEP
4 cardiovascular system MP:0005385 10.08 PPARG BSCL2 CAV1 EMD INS LEP
5 growth/size/body region MP:0005378 10.08 AGPAT2 BSCL2 CAV1 INS LEP LMNA
6 cellular MP:0005384 10.07 EMD INS LEP LMNA PPARG CAV1
7 endocrine/exocrine gland MP:0005379 10.04 AGPAT2 BSCL2 CAV1 INS LEP LMNA
8 hematopoietic system MP:0005397 10 AGPAT2 BSCL2 CAV1 INS LEP LMNA
9 digestive/alimentary MP:0005381 9.99 AGPAT2 BSCL2 CAV1 INS LEP LMNA
10 integument MP:0010771 9.97 AGPAT2 BSCL2 CAV1 INS LEP LMNA
11 immune system MP:0005387 9.95 AGPAT2 BSCL2 CAV1 INS LEP LMNA
12 liver/biliary system MP:0005370 9.92 PLIN1 PPARG AGPAT2 BSCL2 CAV1 INS
13 muscle MP:0005369 9.8 INS LEP LMNA PLIN1 PPARG CAV1
14 renal/urinary system MP:0005367 9.7 AGPAT2 BSCL2 CAV1 INS LEP LMNA
15 reproductive system MP:0005389 9.43 BSCL2 CAV1 INS LEP LMNA PPARG
16 skeleton MP:0005390 9.1 AGPAT2 CAV1 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 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 Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients Recruiting NCT02430077 Phase 2 Obeticholic Acid;Placebo
3 Expanded Access Metreleptin Study Active, not recruiting NCT02404896 Phase 2 Metreleptin
4 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
5 Familial Partial Lipodystrophy Study Recruiting NCT02858830

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 28

Anatomical Context for Familial Partial Lipodystrophy

MalaCards organs/tissues related to Familial Partial Lipodystrophy:

38
Adipocyte, Skin, Pancreas, Liver, Heart, Ovary, Thyroid

Publications for Familial Partial Lipodystrophy

Articles related to Familial Partial Lipodystrophy:

(show top 50) (show all 115)
# Title Authors Year
1
Bone mineral density in familial partial lipodystrophy. ( 29078011 )
2018
2
Endoplasmic reticulum stress activation in adipose tissue induces metabolic syndrome in individuals with familial partial lipodystrophy of the Dunnigan type. ( 29449893 )
2018
3
Dipeptidyl peptidase-4 levels are increased and partially related to body fat distribution in patients with familial partial lipodystrophy type 2. ( 28450900 )
2017
4
Roux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1. ( 28973478 )
2017
5
Insulin secretory defect in familial partial lipodystrophy Type 2 and successful long-term treatment with a glucagon-like peptide 1 receptor agonist. ( 29044799 )
2017
6
Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy. ( 28641778 )
2017
7
Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045Ca88>a88T LMNA mutation. ( 28620495 )
2017
8
An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease. ( 27504462 )
2016
9
LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A. ( 27841971 )
2016
10
Familial partial lipodystrophy presenting as metabolic syndrome. ( 27919367 )
2016
11
A Case of Familial Partial Lipodystrophy: From Clinical Phenotype to Genetics. ( 27026223 )
2016
12
Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy. ( 27376152 )
2016
13
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
14
Type 1 familial partial lipodystrophy: understanding the KAPbberling syndrome. ( 27473102 )
2016
15
A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N). ( 26775134 )
2016
16
Clinical Utility Gene Card for: Familial partial lipodystrophy. ( 27485410 )
2016
17
Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl. ( 26976018 )
2016
18
Familial partial lipodystrophy as differential diagnosis of polycystic ovary syndrome. ( 26662654 )
2015
19
Familial partial lipodystrophy type 3: a new mutation on the PPARG gene. ( 26158656 )
2015
20
Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3. ( 26119484 )
2015
21
Evaluation of epicardial adipose tissue in familial partial lipodystrophy. ( 25859279 )
2015
22
The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. ( 25524705 )
2015
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
Familial partial lipodystrophy, Dunnigan variety - challenges for patient care during pregnancy: a case report. ( 25885670 )
2015
25
A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. ( 25475467 )
2014
26
Structural basis of the transactivation deficiency of the human PPARI^ F360L mutant associated with familial partial lipodystrophy. ( 25004973 )
2014
27
Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy. ( 25114292 )
2014
28
A woman with familial partial lipodystrophy and the complications of her four pregnancies. ( 27512436 )
2014
29
Primary intestinal follicular lymphoma and premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy. ( 24739605 )
2014
30
Increased skeletal muscle volume in women with familial partial lipodystrophy, Dunnigan variety. ( 23783098 )
2013
31
Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family. ( 24002959 )
2013
32
Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA. ( 24080738 )
2013
33
Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations. ( 23243001 )
2013
34
[Biochemical, hormonal and genetic evaluation of the families of two Brazilian patients with type 2 familial partial lipodystrophy]. ( 24343626 )
2013
35
Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation. ( 22938045 )
2012
36
Premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy and hypertriglyceridemia. ( 22989829 )
2012
37
Quantitative whole-body MRI in familial partial lipodystrophy type 2: changes in adipose tissue distribution coincide with biochemical improvement. ( 23096204 )
2012
38
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
39
Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations. ( 21883346 )
2012
40
Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene. ( 22276265 )
2012
41
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
42
Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. ( 22935701 )
2012
43
A new method for body fat evaluation, body adiposity index, is useful in women with familial partial lipodystrophy. ( 22095113 )
2012
44
Successful treatment for the Dunnigan-type familial partial lipodystrophy with Roux-en-Y gastric bypass. ( 21521325 )
2011
45
Breast augmentation in Familial Partial Lipodystrophy: a case report. ( 21306965 )
2011
46
Surgical management of phenotypic alterations related to the Dunnigan variety of familial partial lipodystrophy. ( 21561824 )
2011
47
Characterisation of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-associated PPARI^ mutation (Y151C). ( 21479595 )
2011
48
Visual vignette. Type 2 familial partial lipodystrophy syndrome of the Dunnigan variety. ( 21454231 )
2011
49
Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family. ( 20625965 )
2010
50
A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features. ( 21031082 )
2010

Variations for Familial Partial Lipodystrophy

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

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 CAV1 EMD PLIN1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 mitotic nuclear envelope disassembly GO:0007077 9.54 EMD LMNA
2 glucose homeostasis GO:0042593 9.54 INS LEP PPARG
3 placenta development GO:0001890 9.52 LEP PPARG
4 positive regulation of cytokine production GO:0001819 9.51 AGPAT2 LEP
5 regulation of nitric-oxide synthase activity GO:0050999 9.49 CAV1 LEP
6 lipid storage GO:0019915 9.48 BSCL2 CAV1
7 negative regulation of lipid catabolic process GO:0050995 9.46 BSCL2 INS
8 regulation of fat cell differentiation GO:0045598 9.43 LEP PPARG
9 positive regulation of insulin receptor signaling pathway GO:0046628 9.4 INS LEP
10 mitotic nuclear envelope reassembly GO:0007084 9.32 EMD LMNA
11 negative regulation of acute inflammatory response GO:0002674 9.26 INS PPARG
12 cellular response to hyperoxia GO:0071455 9.16 CAV1 PPARG
13 lipid metabolic process GO:0006629 9.02 AGPAT2 BSCL2 LEP PLIN1 PPARG
14 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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