FPL
MCID: FML012
MIFTS: 52

Familial Partial Lipodystrophy (FPL) malady

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

Aliases & Classifications for Familial Partial Lipodystrophy

Aliases & Descriptions for Familial Partial Lipodystrophy:

Name: Familial Partial Lipodystrophy 12 50 25 14 69
Lipodystrophy, Familial Partial 25 29 52 42
Familial Partial Lipodystrophy, Type 2 69
Dunnigan-Kobberling Syndrome 25
Kobberling-Dunnigan Syndrome 25
Koberling-Dunnigan Syndrome 12
Dunnigan Syndrome 12
Fpld 50
Fpl 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050440
MeSH 42 D052496
NCIt 47 C84708
SNOMED-CT 64 49292002

Summaries for Familial Partial Lipodystrophy

NIH Rare Diseases : 50 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, 2 and mandibuloacral dysplasia, 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 Developmental Biology and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs chenodeoxycholic acid and Cathartics have been mentioned in the context of this disorder. Affiliated tissues include skin, adipocyte and heart, and related phenotypes are adipose tissue and behavior/neurological

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 lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.

Wikipedia : 71 Familial partial lipodystrophy (also known as \"Köbberling–Dunnigan syndrome\") is a metabolic... more...

Related Diseases for Familial Partial Lipodystrophy

Diseases in the Familial Partial Lipodystrophy family:

Lipodystrophy, Familial Partial, 2 Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Familial Partial, Type 3 Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Partial, Acquired Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Familial Partial, Type 1 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 71)
id Related Disease Score Top Affiliating Genes
1 lipodystrophy, familial partial, 2 33.3 EMD LMNA
2 mandibuloacral dysplasia 30.1 EMD LMNA
3 familial partial lipodystrophy due to akt2 mutations 12.0
4 lipe-related familial partial lipodystrophy 12.0
5 lipodystrophy, familial partial, type 1 11.9
6 lipodystrophy, familial partial, type 4 11.8
7 lipodystrophy, familial partial, type 3 11.4
8 lipodystrophy, familial partial, type 5 11.2
9 lipodystrophy, congenital generalized, type 1 10.9
10 lipodystrophy, congenital generalized, type 2 10.9
11 lipodystrophy, familial partial, type 6 10.9
12 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 10.9
13 lipodystrophy 10.7
14 retinitis pigmentosa 38 10.2 EMD LMNA
15 endolymphatic sac tumor 10.2 EMD LMNA
16 cardiomyopathy, dilated, 1a 10.2 EMD LMNA
17 arthrogryposis, distal, type 8 10.2 EMD LMNA
18 greenberg skeletal dysplasia 10.2 EMD LMNA
19 congenital myasthenic syndrome 19 10.2 EMD LMNA
20 autosomal recessive limb-girdle muscular dystrophy type 2f 10.2 EMD LMNA
21 mosaic trisomy 1 10.2 EMD LMNA
22 retinitis pigmentosa 18 10.1 EMD LMNA
23 maturity-onset diabetes of the young, type viii 10.1 AGPAT2 LMNA
24 cetp-related hyperalphalipoproteinemia 10.1 INS PPARG
25 multiple myeloma 10.1 BSCL2 LMNA
26 iida kannari syndrome 10.0 INS PPARG
27 emery-dreifuss muscular dystrophy 3, ar 10.0 INS LEP LMNA
28 leg dermatosis 10.0 INS LEP LMNA
29 anxiety disorder 10.0 LEP PLIN1
30 autosomal recessive congenital ichthyosis 10.0 INS LEP PPARG
31 hyperlipoproteinemia type iv 10.0 INS LEP PPARG
32 cataract 20, multiple types 10.0 INS LEP PPARG
33 lipomatosis 10.0 INS LEP PPARG
34 adrenal adenoma 10.0 INS LEP PPARG
35 peroneal neuropathy 10.0 INS LEP PPARG
36 epidural spinal canal meningioma 10.0 INS LEP
37 blind loop syndrome 10.0 INS LEP PPARG
38 body dysmorphic disorder 10.0 INS LEP PPARG
39 brain stem glioma 10.0 INS LEP PPARG
40 cerebral artery occlusion 10.0 AGPAT2 INS
41 pituitary adenoma, prolactin-secreting 10.0 BSCL2 LMNA
42 fetal warfarin syndrome 10.0 INS LEP
43 edict syndrome 9.9 AKT2 INS LEP
44 cardiomyopathy 9.9
45 ceroid lipofuscinosis, neuronal, 13, kufs type 9.9 AGPAT2 BSCL2
46 not otherwise specified 3-mga-uria type 9.9 INS LEP
47 atherosclerosis 9.8
48 obesity 9.8
49 sleep apnea 9.8
50 obstructive sleep apnea 9.8

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:

44 (show all 16)
id Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 10.16 LEP LMNA PLIN1 PPARG AGPAT2 AKT2
2 behavior/neurological MP:0005386 10.15 EMD INS LEP LMNA PLIN1 PPARG
3 growth/size/body region MP:0005378 10.08 AGPAT2 AKT2 BSCL2 INS LEP LMNA
4 cellular MP:0005384 10.07 AKT2 BSCL2 EMD INS LEP LMNA
5 endocrine/exocrine gland MP:0005379 10.04 AGPAT2 AKT2 BSCL2 INS LEP LMNA
6 homeostasis/metabolism MP:0005376 10.03 AKT2 BSCL2 INS LEP LMNA PLIN1
7 cardiovascular system MP:0005385 10.01 BSCL2 EMD INS LEP LMNA PPARG
8 hematopoietic system MP:0005397 10 AGPAT2 AKT2 BSCL2 INS LEP LMNA
9 integument MP:0010771 9.97 AGPAT2 AKT2 BSCL2 INS LEP LMNA
10 immune system MP:0005387 9.95 AGPAT2 AKT2 BSCL2 INS LEP LMNA
11 liver/biliary system MP:0005370 9.92 AGPAT2 AKT2 BSCL2 INS LEP LMNA
12 digestive/alimentary MP:0005381 9.91 AGPAT2 BSCL2 INS LEP LMNA
13 muscle MP:0005369 9.8 AKT2 EMD INS LEP LMNA PLIN1
14 renal/urinary system MP:0005367 9.63 AGPAT2 BSCL2 INS LEP LMNA PPARG
15 reproductive system MP:0005389 9.43 AKT2 BSCL2 INS LEP LMNA PPARG
16 skeleton MP:0005390 9.1 AKT2 INS LEP LMNA PPARG AGPAT2

Drugs & Therapeutics for Familial Partial Lipodystrophy

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


id 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
5
Menthol Approved 2216-51-5 16666

Interventional clinical trials:


id Name Status NCT ID Phase
1 The BROADEN Study: A Study of Volanesorsen (Formerly ISIS-APOCIIIRx) in Patients With Familial Partial Lipodystrophy Recruiting NCT02527343 Phase 2, Phase 3
2 Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients Recruiting NCT02430077 Phase 2
3 CLINICAL PROTOCOL to Investigate the Long-term Safety and Efficacy of Metreleptin in Various Forms of Partial Lipodystrophy Recruiting NCT02654977 Phase 2
4 Expanded Access Metreleptin Study Active, not recruiting NCT02404896 Phase 2
5 Identification of a New Gene Involved in Hereditary Lipodystrophy Completed NCT02056912
6 Familial Partial Lipodystrophy Study Recruiting NCT02858830
7 Lipodystrophy Connect Patient Registry Recruiting NCT02577952

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:

id Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy 29

Anatomical Context for Familial Partial Lipodystrophy

MalaCards organs/tissues related to Familial Partial Lipodystrophy:

39
Skin, Adipocyte, Heart, Liver, Pancreas, Skeletal Muscle, Ovary

Publications for Familial Partial Lipodystrophy

Articles related to Familial Partial Lipodystrophy:

(show top 50) (show all 108)
id Title Authors Year
1
A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N). ( 26775134 )
2016
2
LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A. ( 27841971 )
2016
3
Clinical Utility Gene Card for: Familial partial lipodystrophy. ( 27485410 )
2016
4
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
5
Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy. ( 27376152 )
2016
6
Familial partial lipodystrophy presenting as metabolic syndrome. ( 27919367 )
2016
7
Type 1 familial partial lipodystrophy: understanding the KAPbberling syndrome. ( 27473102 )
2016
8
A Case of Familial Partial Lipodystrophy: From Clinical Phenotype to Genetics. ( 27026223 )
2016
9
An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease. ( 27504462 )
2016
10
Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl. ( 26976018 )
2016
11
The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. ( 25524705 )
2015
12
Evaluation of epicardial adipose tissue in familial partial lipodystrophy. ( 25859279 )
2015
13
Familial partial lipodystrophy, Dunnigan variety - challenges for patient care during pregnancy: a case report. ( 25885670 )
2015
14
Familial partial lipodystrophy type 3: a new mutation on the PPARG gene. ( 26158656 )
2015
15
Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3. ( 26119484 )
2015
16
Erratum: Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation. ( 25774228 )
2015
17
Familial partial lipodystrophy as differential diagnosis of polycystic ovary syndrome. ( 26662654 )
2015
18
A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. ( 25475467 )
2014
19
Primary intestinal follicular lymphoma and premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy. ( 24739605 )
2014
20
A woman with familial partial lipodystrophy and the complications of her four pregnancies. ( 27512436 )
2014
21
Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy. ( 25114292 )
2014
22
Structural basis of the transactivation deficiency of the human PPARI^ F360L mutant associated with familial partial lipodystrophy. ( 25004973 )
2014
23
Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA. ( 24080738 )
2013
24
Increased skeletal muscle volume in women with familial partial lipodystrophy, Dunnigan variety. ( 23783098 )
2013
25
Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations. ( 23243001 )
2013
26
[Biochemical, hormonal and genetic evaluation of the families of two Brazilian patients with type 2 familial partial lipodystrophy]. ( 24343626 )
2013
27
Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family. ( 24002959 )
2013
28
Premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy and hypertriglyceridemia. ( 22989829 )
2012
29
Quantitative whole-body MRI in familial partial lipodystrophy type 2: changes in adipose tissue distribution coincide with biochemical improvement. ( 23096204 )
2012
30
Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations. ( 21883346 )
2012
31
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
32
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
33
Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. ( 22935701 )
2012
34
Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene. ( 22276265 )
2012
35
A new method for body fat evaluation, body adiposity index, is useful in women with familial partial lipodystrophy. ( 22095113 )
2012
36
Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation. ( 22938045 )
2012
37
Successful treatment for the Dunnigan-type familial partial lipodystrophy with Roux-en-Y gastric bypass. ( 21521325 )
2011
38
Characterisation of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-associated PPARI^ mutation (Y151C). ( 21479595 )
2011
39
Surgical management of phenotypic alterations related to the Dunnigan variety of familial partial lipodystrophy. ( 21561824 )
2011
40
Breast augmentation in Familial Partial Lipodystrophy: a case report. ( 21306965 )
2011
41
Visual vignette. Type 2 familial partial lipodystrophy syndrome of the Dunnigan variety. ( 21454231 )
2011
42
Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family. ( 20625965 )
2010
43
Regional decrease of subcutaneous adipose tissue in patients with type 2 familial partial lipodystrophy is associated with changes in thyroid hormone metabolism. ( 20373986 )
2010
44
A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features. ( 21031082 )
2010
45
Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations. ( 20041886 )
2010
46
Post-mortem findings in Dunnigan-type familial partial lipodystrophy. ( 20546275 )
2010
47
Predicting abdominal adipose tissue among women with familial partial lipodystrophy. ( 19375764 )
2009
48
Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy. ( 18805829 )
2009
49
The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. ( 19201734 )
2009
50
Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy. ( 19793595 )
2009

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 GeneCards Suite gene sharing:

(show all 18)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 AKT2 INS LEP PLIN1 PPARG
2
Show member pathways
12.55 AGPAT2 LEP PLIN1 PPARG
3
Show member pathways
12.18 AKT2 INS LEP
4
Show member pathways
12.09 AGPAT2 AKT2 INS
5
Show member pathways
11.97 AKT2 INS LEP PPARG
6
Show member pathways
11.84 AKT2 INS LEP
7 11.82 AGPAT2 AKT2 INS PLIN1 PPARG
8
Show member pathways
11.72 AKT2 INS PPARG
9 11.48 INS LEP PPARG
10 11.29 AKT2 LEP
11 11.29 AGPAT2 BSCL2 INS LEP LMNA PLIN1
12 11.26 INS LEP
13 11.17 AKT2 INS
14 11.06 AKT2 INS PLIN1
15
Show member pathways
11.03 EMD LMNA
16 10.96 AKT2 INS
17 10.85 LEP PPARG
18 10.75 LEP PPARG

GO Terms for Familial Partial Lipodystrophy

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

(show all 14)
id 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 glucose import GO:0046326 9.51 AKT2 INS
5 positive regulation of cytokine production GO:0001819 9.49 AGPAT2 LEP
6 negative regulation of lipid catabolic process GO:0050995 9.48 BSCL2 INS
7 regulation of fat cell differentiation GO:0045598 9.46 LEP PPARG
8 positive regulation of glycogen biosynthetic process GO:0045725 9.43 AKT2 INS
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 regulation of protein localization to nucleus GO:1900180 9.16 LEP LMNA
13 glucose metabolic process GO:0006006 9.13 AKT2 INS LEP
14 lipid metabolic process GO:0006629 9.02 AGPAT2 BSCL2 LEP PLIN1 PPARG

Sources for Familial Partial Lipodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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