MCID: PRT078
MIFTS: 46

Partial Lipodystrophy

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

Aliases & Classifications for Partial Lipodystrophy

MalaCards integrated aliases for Partial Lipodystrophy:

Name: Partial Lipodystrophy 12 55
Acquired Partial Lipodystrophy 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0080299
UMLS 73 C0220989

Summaries for Partial Lipodystrophy

Disease Ontology : 12 A lipodystrophy that is characterized by partial loss of adipose tissue.

MalaCards based summary : Partial Lipodystrophy, also known as acquired partial lipodystrophy, is related to familial partial lipodystrophy and congenital generalized lipodystrophy. An important gene associated with Partial Lipodystrophy is LMNA (Lamin A/C), and among its related pathways/superpathways are TNFR1 Pathway and Chks in Checkpoint Regulation. The drugs insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include adipocyte, ovary and bone, and related phenotypes are Reduced mammosphere formation and cellular

Related Diseases for 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 Partial Lipodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 familial partial lipodystrophy 32.8 BSCL2 LMNA PPARG
2 congenital generalized lipodystrophy 30.2 BSCL2 CAV1 LMNA
3 acanthosis nigricans 29.5 LMNA PPARG
4 emery-dreifuss muscular dystrophy 29.5 LMNA LMNB1
5 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 12.4
6 lipodystrophy, familial partial, type 1 12.1
7 familial partial lipodystrophy due to akt2 mutations 12.1
8 lipodystrophy, partial, acquired 12.1
9 lipe-related familial partial lipodystrophy 12.0
10 short syndrome 11.9
11 lipodystrophy, familial partial, type 2 11.9
12 lipodystrophy, familial partial, type 4 11.8
13 lipodystrophy, familial partial, type 3 11.8
14 lipodystrophy, familial partial, type 5 11.3
15 mandibuloacral dysplasia with type a lipodystrophy 11.3
16 autoinflammation, lipodystrophy, and dermatosis syndrome 11.3
17 lipodystrophy, familial partial, type 6 11.2
18 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis 11.2
19 lipodystrophy, congenital generalized, type 2 11.0
20 lipodystrophy, congenital generalized, type 1 11.0
21 lipodystrophy, congenital generalized, type 3 10.9
22 marfan lipodystrophy syndrome 10.9
23 acquired generalized lipodystrophy 10.9
24 diabetes mellitus, noninsulin-dependent 10.3
25 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.1 LMNA LMNB1
26 glomerulonephritis 10.1
27 muscular dystrophy 10.1
28 membranoproliferative glomerulonephritis 10.0
29 autosomal dominant limb-girdle muscular dystrophy 10.0 CAV1 LMNA
30 adrenomyodystrophy 9.9
31 apnea, obstructive sleep 9.8
32 diabetes mellitus 9.8
33 hematopoietic stem cell transplantation 9.8
34 hepatitis 9.8
35 polycystic ovary syndrome 9.8
36 sleep apnea 9.8
37 localized scleroderma 9.8
38 c3 glomerulopathy 9.8
39 non-immunoglobulin-mediated membranoproliferative glomerulonephritis 9.8
40 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.7 BSCL2 LMNA
41 autoimmune disease 9.7
42 lipomatosis, multiple symmetric 9.7
43 systemic lupus erythematosus 9.7
44 werner syndrome 9.7
45 focal segmental glomerulosclerosis 1 9.7
46 autoimmune disease 1 9.7
47 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7
48 leukemia, acute lymphoblastic 9.7
49 fatty liver disease, nonalcoholic 1 9.7
50 complement component 3 deficiency, autosomal recessive 9.7

Graphical network of the top 20 diseases related to Partial Lipodystrophy:



Diseases related to Partial Lipodystrophy

Symptoms & Phenotypes for Partial Lipodystrophy

GenomeRNAi Phenotypes related to Partial Lipodystrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 LMNA LMNB2 PIK3R1 PPARG CAV1

MGI Mouse Phenotypes related to Partial Lipodystrophy:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.04 LMNA LMNB1 LMNB2 PIK3R1 PPARG BSCL2
2 growth/size/body region MP:0005378 10.02 BSCL2 CAV1 LMNA LMNB1 LMNB2 PIK3R1
3 homeostasis/metabolism MP:0005376 9.98 PPARG BSCL2 CAV1 LMNA LMNB1 LMNB2
4 hematopoietic system MP:0005397 9.93 BSCL2 CAV1 LMNA LMNB1 PIK3R1 PPARG
5 adipose tissue MP:0005375 9.92 BSCL2 CAV1 LMNA PIK3R1 PPARG
6 cardiovascular system MP:0005385 9.91 BSCL2 CAV1 LMNA PIK3R1 PPARG
7 integument MP:0010771 9.88 BSCL2 CAV1 LMNA LMNB1 LMNB2 PPARG
8 mortality/aging MP:0010768 9.87 BSCL2 CAV1 LMNA LMNB1 LMNB2 PIK3R1
9 liver/biliary system MP:0005370 9.77 BSCL2 CAV1 LMNA PIK3R1 PPARG
10 muscle MP:0005369 9.73 CAV1 LMNA LMNB1 LMNB2 PIK3R1 PPARG
11 renal/urinary system MP:0005367 9.46 BSCL2 CAV1 LMNA PPARG
12 reproductive system MP:0005389 9.35 BSCL2 CAV1 LMNA LMNB2 PPARG
13 respiratory system MP:0005388 8.92 CAV1 LMNA LMNB1 LMNB2

Drugs & Therapeutics for Partial Lipodystrophy

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 insulin Phase 2, Phase 3
2 Insulin, Globin Zinc Phase 2, Phase 3
3
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
4 Cathartics Phase 2
5 Gastrointestinal Agents Phase 2
6 Laxatives Phase 2
7
Menthol Approved Not Applicable 2216-51-5 16666

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Trial of Leptin Replacement Therapy in Patients With Lipodystrophy Completed NCT00896298 Phase 2, Phase 3 Leptin;Placebo
2 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
3 Compassionate Use of Metreleptin in Previously Treated People With Partial Lipodystrophy Enrolling by invitation NCT02262806 Phase 3 Metreleptin
4 Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With With Familial Partial Lipodystrophy (FPL) Recruiting NCT03514420 Phase 2 AKCEA-ANGPTL3-LRX
5 Efficacy, Safety and Tolerability of ISIS 304801 in People With Partial Lipodystrophy With an Open-Label Extension Recruiting NCT02639286 Phase 2 ISIS 304801;Placebo
6 Study of Gemcabene in Adults With FPLD Recruiting NCT03508687 Phase 1, Phase 2 300mg Gemcabene;600mg Gemcabene
7 Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients Recruiting NCT02430077 Phase 2 Obeticholic Acid;Placebo
8 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
9 Expanded Access Metreleptin Study Active, not recruiting NCT02404896 Phase 2 Metreleptin
10 Identification of a New Gene Involved in Hereditary Lipodystrophy Completed NCT02056912 Not Applicable
11 Familial Partial Lipodystrophy Study Recruiting NCT02858830 Not Applicable
12 Lipodystrophy Connect Patient Registry Recruiting NCT02577952
13 Setemelanotide in a Single Patient With Partial Lipodystrophy No longer available NCT03262610 Setmelanotide

Search NIH Clinical Center for Partial Lipodystrophy

Genetic Tests for Partial Lipodystrophy

Anatomical Context for Partial Lipodystrophy

MalaCards organs/tissues related to Partial Lipodystrophy:

41
Adipocyte, Ovary, Bone, Skin, Thyroid, Kidney, Skeletal Muscle

Publications for Partial Lipodystrophy

Articles related to Partial Lipodystrophy:

(show top 50) (show all 200)
# 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
Acquired partial lipodystrophy and C3 glomerulopathy: Dysregulation of the complement system as a common pathogenic mechanism. ( 29279276 )
2017
7
Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges. ( 29066925 )
2017
8
Crescentic C3 glomerulopathy with acquired partial lipodystrophy: An unusual cause of rapidly progressive renal failure. ( 28631660 )
2017
9
Insulin secretory defect in familial partial lipodystrophy Type 2 and successful long-term treatment with a glucagon-like peptide 1 receptor agonist. ( 29044799 )
2017
10
Acquired partial lipodystrophy after bone marrow transplant during childhood: a novel syndrome to be added to the disease classification list. ( 28721522 )
2017
11
Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort. ( 28199729 )
2017
12
Roux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1. ( 28973478 )
2017
13
Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045Ca88>a88T LMNA mutation. ( 28620495 )
2017
14
Partial lipodystrophy in patients who have undergone hematopoietic stem cell transplantation during childhood: an institutional cross-sectional survey. ( 28458462 )
2017
15
Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy. ( 27862896 )
2017
16
Dipeptidyl peptidase-4 levels are increased and partially related to body fat distribution in patients with familial partial lipodystrophy type 2. ( 28450900 )
2017
17
Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy. ( 28641778 )
2017
18
<i>LMNA</i>-associated partial lipodystrophy: anticipation of metabolic complications. ( 28408391 )
2017
19
Temporary resolution of insulin requirement in acquired partial lipodystrophy associated with chronic graft-versus-host disease. ( 28371314 )
2017
20
Novel subtype of congenital partial lipodystrophy with mandibular hypoplasia, sensorineural deafness and short stature of unknown genetic origin. ( 28054466 )
2017
21
A Case of Familial Partial Lipodystrophy: From Clinical Phenotype to Genetics. ( 27026223 )
2016
22
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
23
Bleomycin Containing Chemotherapeutic Regimen Induced Acquired Partial Lipodystrophy. ( 26955139 )
2016
24
Type 1 familial partial lipodystrophy: understanding the KAPbberling syndrome. ( 27473102 )
2016
25
Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl. ( 26976018 )
2016
26
An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease. ( 27504462 )
2016
27
Efficacy and Safety of Metreleptin in Patients with Partial Lipodystrophy: Lessons from an Expanded Access Program. ( 27642538 )
2016
28
Clinical Utility Gene Card for: Familial partial lipodystrophy. ( 27485410 )
2016
29
A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N). ( 26775134 )
2016
30
Familial partial lipodystrophy presenting as metabolic syndrome. ( 27919367 )
2016
31
LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A. ( 27841971 )
2016
32
Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy. ( 27376152 )
2016
33
Successfull Simultaneous Pancreas Kidney transplantation in a patient with Congenital Partial Lipodystrophy. ( 27006329 )
2016
34
Erratum: Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation. ( 25774228 )
2015
35
Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3. ( 26119484 )
2015
36
Familial partial lipodystrophy type 3: a new mutation on the PPARG gene. ( 26158656 )
2015
37
Familial partial lipodystrophy, Dunnigan variety - challenges for patient care during pregnancy: a case report. ( 25885670 )
2015
38
Evaluation of epicardial adipose tissue in familial partial lipodystrophy. ( 25859279 )
2015
39
The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. ( 25524705 )
2015
40
Retinal changes in a patient with acquired partial lipodystrophy (Laignel-Lavastine and Viard Syndrome). ( 25688597 )
2015
41
Familial partial lipodystrophy as differential diagnosis of polycystic ovary syndrome. ( 26662654 )
2015
42
A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. ( 25475467 )
2014
43
A woman with familial partial lipodystrophy and the complications of her four pregnancies. ( 27512436 )
2014
44
A rare case of acquired partial lipodystrophy (Barraquer-Simons syndrome) with localized scleroderma. ( 23675994 )
2014
45
Structural basis of the transactivation deficiency of the human PPARI^ F360L mutant associated with familial partial lipodystrophy. ( 25004973 )
2014
46
Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy. ( 25114292 )
2014
47
Primary intestinal follicular lymphoma and premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy. ( 24739605 )
2014
48
SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. ( 23810379 )
2013
49
Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family. ( 24002959 )
2013
50
Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations. ( 23243001 )
2013

Variations for Partial Lipodystrophy

Expression for Partial Lipodystrophy

Search GEO for disease gene expression data for Partial Lipodystrophy.

Pathways for Partial Lipodystrophy

Pathways related to Partial Lipodystrophy according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.52 LMNA LMNB1 LMNB2
2
Show member pathways
12.33 LMNA LMNB1 LMNB2
3
Show member pathways
12.26 LMNA LMNB1 LMNB2 PIK3R1
4
Show member pathways
12.11 LMNA LMNB1 LMNB2
5
Show member pathways
11.93 CAV1 PIK3R1 PPARG
6 11.81 LMNA LMNB1 LMNB2
7
Show member pathways
11.76 LMNA LMNB1 LMNB2
8 11.75 CAV1 LMNA LMNB1 LMNB2
9
Show member pathways
11.54 CAV1 PIK3R1
10 11.53 CAV1 PIK3R1
11 11.45 BSCL2 LMNA PPARG
12 11.41 CAV1 PIK3R1
13 11.22 CAV1 PIK3R1
14
Show member pathways
11.17 LMNA LMNB1
15 11.13 CAV1 PIK3R1
16
Show member pathways
10.98 LMNA LMNB1
17 10.75 CAV1 PIK3R1
18
Show member pathways
10.48 LMNA LMNB1 LMNB2

GO Terms for Partial Lipodystrophy

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

# Name GO ID Score Top Affiliating Genes
1 nuclear membrane GO:0031965 9.43 LMNA LMNB1 LMNB2
2 intermediate filament GO:0005882 9.33 LMNA LMNB1 LMNB2
3 nuclear inner membrane GO:0005637 9.32 LMNB1 LMNB2
4 nuclear envelope GO:0005635 9.13 LMNA LMNB1 LMNB2
5 lamin filament GO:0005638 8.8 LMNA LMNB1 LMNB2

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.43 CAV1 LMNA PPARG
2 cellular response to insulin stimulus GO:0032869 9.37 PIK3R1 PPARG
3 T cell costimulation GO:0031295 9.32 CAV1 PIK3R1
4 response to estrogen GO:0043627 9.16 CAV1 PPARG
5 lipid storage GO:0019915 8.96 BSCL2 CAV1
6 cellular response to hyperoxia GO:0071455 8.62 CAV1 PPARG

Molecular functions related to Partial Lipodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein phosphatase binding GO:0019903 8.96 PIK3R1 PPARG
2 structural molecule activity GO:0005198 8.92 CAV1 LMNA LMNB1 LMNB2

Sources for 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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