MCID: FML012
MIFTS: 51

Familial Partial Lipodystrophy

Categories: Rare diseases, Skin diseases, Genetic 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 50 25 29 14 69
Lipodystrophy, Familial Partial 25 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, type 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 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Cytoskeletal Signaling. The drugs chenodeoxycholic acid and Cathartics have been mentioned in the context of this disorder. Affiliated tissues include skin, adipocyte 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 : 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 : 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 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 73)
id Related Disease Score Top Affiliating Genes
1 lipodystrophy, familial partial, type 2 32.8 INS LEP LMNA
2 mandibuloacral dysplasia 29.0 AGPAT2 BSCL2 LMNA
3 familial partial lipodystrophy due to akt2 mutations 12.1
4 lipe-related familial partial lipodystrophy 12.0
5 lipodystrophy, familial partial, type 1 11.9
6 lipodystrophy, familial partial, type 3 11.8
7 lipodystrophy, familial partial, type 4 11.8
8 lipodystrophy, familial partial, type 5 11.3
9 lipodystrophy, familial partial, type 6 11.1
10 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 10.9
11 lipodystrophy 10.7
12 encephalocele anencephaly 10.5 EMD LMNA
13 cardiomyopathy, dilated, 1h 10.5 EMD LMNA
14 emery-dreifuss muscular dystrophy 2, ad 10.5 EMD LMNA
15 atrial standstill, digenic 10.5 EMD LMNA
16 arthrogryposis, distal, type 2a 10.5 EMD LMNA
17 muscular dystrophy, limb-girdle, type 1b 10.5 EMD LMNA
18 pelger-huet anomaly 10.4 EMD LMNA
19 cardiomyopathy, dilated, 1a 10.4 EMD LMNA
20 neurodegeneration with brain iron accumulation 10.4 EMD LMNA
21 cataract, autosomal dominant congenital 4 10.3 INS PPARG
22 idiopathic juxtafoveal retinal telangiectasia 10.2 INS PPARG
23 myh-9 related disease 10.2 INS LEP
24 autosomal recessive limb-girdle muscular dystrophy type 2b 10.2 CAV1 EMD LMNA
25 hyperinsulinemic hypoglycemia, familial, 4 10.2 INS PPARG
26 fetal parvovirus syndrome 10.1 INS LEP
27 eosinophilic variant of chromophobe renal cell carcinoma 10.1 EMD LMNA
28 anxiety disorder 10.1 LEP PLIN1
29 neurogenic arthropathy 10.0 INS LEP
30 acute hydrops keratoconus 10.0 AGPAT2 INS
31 alstrom syndrome 10.0 INS LEP
32 mucinoses 10.0 INS LEP LMNA
33 chondroma 9.9 INS LEP
34 cardiomyopathy 9.9
35 short bowel syndrome 9.9 INS LEP LMNA
36 hypomagnesemia 3, renal 9.9 INS LEP PPARG
37 hyperlipoproteinemia type iv 9.9 INS LEP PPARG
38 nonsyndromic hereditary sensorineural hearing loss 9.9 INS LEP PPARG
39 inherited metabolic disorder 9.9 INS LEP PPARG
40 skin squamous cell carcinoma 9.9 INS LEP PPARG
41 pituitary adenoma, growth hormone-secreting 9.9 BSCL2 LMNA
42 hypertrichosis 9.9 INS LEP PPARG
43 mucolipidoses 9.9 INS LEP PPARG
44 survival motor neuron spinal muscular atrophy 9.9 INS LEP PPARG
45 porokeratosis 9.9 INS LEP
46 peroneal neuropathy 9.9 INS LEP PPARG
47 atherosclerosis 9.8
48 sleep apnea 9.8
49 obesity 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 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 cardiovascular system MP:0005385 10.08 BSCL2 CAV1 EMD INS LEP LMNA
4 growth/size/body region MP:0005378 10.08 AGPAT2 BSCL2 CAV1 INS LEP LMNA
5 cellular MP:0005384 10.07 BSCL2 CAV1 EMD INS LEP LMNA
6 endocrine/exocrine gland MP:0005379 10.04 LEP LMNA PPARG AGPAT2 BSCL2 CAV1
7 homeostasis/metabolism MP:0005376 10.03 AGPAT2 BSCL2 CAV1 INS LEP LMNA
8 hematopoietic system MP:0005397 10 LMNA PPARG AGPAT2 BSCL2 CAV1 INS
9 digestive/alimentary MP:0005381 9.99 LMNA CAV1 INS LEP AGPAT2 BSCL2
10 integument MP:0010771 9.97 PLIN1 PPARG AGPAT2 BSCL2 CAV1 INS
11 immune system MP:0005387 9.95 AGPAT2 BSCL2 CAV1 INS LEP LMNA
12 liver/biliary system MP:0005370 9.92 AGPAT2 BSCL2 CAV1 INS LEP LMNA
13 muscle MP:0005369 9.8 CAV1 EMD INS LEP LMNA PLIN1
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):


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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 The BROADEN Study: A Study of Volanesorsen (Formerly ISIS-APOCIIIRx) in Patients With Familial Partial Lipodystrophy 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 CLINICAL PROTOCOL to Investigate the Long-term Safety and Efficacy of Metreleptin in Various Forms of Partial Lipodystrophy Recruiting NCT02654977 Phase 2 Metreleptin
4 Expanded Access Metreleptin Study Active, not recruiting NCT02404896 Phase 2 Metreleptin
5 Familial Partial Lipodystrophy Study Recruiting NCT02858830
6 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, Pancreas, Liver, Heart, Skeletal Muscle, Ovary

Publications for Familial Partial Lipodystrophy

Articles related to Familial Partial Lipodystrophy:

(show top 50) (show all 111)
id Title Authors Year
1
Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy. ( 28641778 )
2017
2
Dipeptidyl peptidase-4 levels are increased and partially related to body fat distribution in patients with familial partial lipodystrophy type 2. ( 28450900 )
2017
3
Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045Ca88>a88T LMNA mutation. ( 28620495 )
2017
4
A Case of Familial Partial Lipodystrophy: From Clinical Phenotype to Genetics. ( 27026223 )
2016
5
LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A. ( 27841971 )
2016
6
Clinical Utility Gene Card for: Familial partial lipodystrophy. ( 27485410 )
2016
7
Type 1 familial partial lipodystrophy: understanding the KAPbberling syndrome. ( 27473102 )
2016
8
Familial partial lipodystrophy presenting as metabolic syndrome. ( 27919367 )
2016
9
Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl. ( 26976018 )
2016
10
A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N). ( 26775134 )
2016
11
Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy. ( 27376152 )
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
An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease. ( 27504462 )
2016
14
Familial partial lipodystrophy as differential diagnosis of polycystic ovary syndrome. ( 26662654 )
2015
15
Evaluation of epicardial adipose tissue in familial partial lipodystrophy. ( 25859279 )
2015
16
The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. ( 25524705 )
2015
17
Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3. ( 26119484 )
2015
18
Familial partial lipodystrophy type 3: a new mutation on the PPARG gene. ( 26158656 )
2015
19
Familial partial lipodystrophy, Dunnigan variety - challenges for patient care during pregnancy: a case report. ( 25885670 )
2015
20
Erratum: Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation. ( 25774228 )
2015
21
A woman with familial partial lipodystrophy and the complications of her four pregnancies. ( 27512436 )
2014
22
Structural basis of the transactivation deficiency of the human PPARI^ F360L mutant associated with familial partial lipodystrophy. ( 25004973 )
2014
23
A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. ( 25475467 )
2014
24
Primary intestinal follicular lymphoma and premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy. ( 24739605 )
2014
25
Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy. ( 25114292 )
2014
26
Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA. ( 24080738 )
2013
27
Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations. ( 23243001 )
2013
28
[Biochemical, hormonal and genetic evaluation of the families of two Brazilian patients with type 2 familial partial lipodystrophy]. ( 24343626 )
2013
29
Increased skeletal muscle volume in women with familial partial lipodystrophy, Dunnigan variety. ( 23783098 )
2013
30
Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family. ( 24002959 )
2013
31
Premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy and hypertriglyceridemia. ( 22989829 )
2012
32
A new method for body fat evaluation, body adiposity index, is useful in women with familial partial lipodystrophy. ( 22095113 )
2012
33
Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation. ( 22938045 )
2012
34
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
35
Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene. ( 22276265 )
2012
36
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
37
Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations. ( 21883346 )
2012
38
Quantitative whole-body MRI in familial partial lipodystrophy type 2: changes in adipose tissue distribution coincide with biochemical improvement. ( 23096204 )
2012
39
Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. ( 22935701 )
2012
40
Breast augmentation in Familial Partial Lipodystrophy: a case report. ( 21306965 )
2011
41
Characterisation of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-associated PPARI^ mutation (Y151C). ( 21479595 )
2011
42
Visual vignette. Type 2 familial partial lipodystrophy syndrome of the Dunnigan variety. ( 21454231 )
2011
43
Successful treatment for the Dunnigan-type familial partial lipodystrophy with Roux-en-Y gastric bypass. ( 21521325 )
2011
44
Surgical management of phenotypic alterations related to the Dunnigan variety of familial partial lipodystrophy. ( 21561824 )
2011
45
Regional decrease of subcutaneous adipose tissue in patients with type 2 familial partial lipodystrophy is associated with changes in thyroid hormone metabolism. ( 20373986 )
2010
46
A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features. ( 21031082 )
2010
47
Post-mortem findings in Dunnigan-type familial partial lipodystrophy. ( 20546275 )
2010
48
Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations. ( 20041886 )
2010
49
Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family. ( 20625965 )
2010
50
Serum retinol binding protein 4 in patients with familial partial lipodystrophy. ( 19303000 )
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

GO Terms for Familial Partial Lipodystrophy

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

id 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)
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 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
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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