MCID: ACQ043
MIFTS: 27

Acquired Lipodystrophy

Categories: Endocrine diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Acquired Lipodystrophy

MalaCards integrated aliases for Acquired Lipodystrophy:

Name: Acquired Lipodystrophy 58

Classifications:

Orphanet: 58  
Rare skin diseases
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 E88.1
UMLS via Orphanet 72 C0877192
Orphanet 58 ORPHA98307

Summaries for Acquired Lipodystrophy

MalaCards based summary : Acquired Lipodystrophy is related to familial partial lipodystrophy and congenital generalized lipodystrophy. An important gene associated with Acquired Lipodystrophy is LMNB2 (Lamin B2), and among its related pathways/superpathways are Apoptosis and survival Caspase cascade and Adipogenesis. The drugs Pioglitazone and Fluoxymesterone have been mentioned in the context of this disorder. Affiliated tissues include skin, adipocyte and liver, and related phenotypes are homeostasis/metabolism and liver/biliary system

Related Diseases for Acquired Lipodystrophy

Diseases in the Primary Lipodystrophy family:

Localized Lipodystrophy Acquired Lipodystrophy

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 familial partial lipodystrophy 29.7 SREBF1 BSCL2
2 congenital generalized lipodystrophy 29.7 CAV1 BSCL2
3 lipodystrophy, familial partial, type 2 29.5 SREBF1 BSCL2
4 lipodystrophy, partial, acquired 12.2
5 acquired generalized lipodystrophy 11.7
6 localized lipodystrophy 11.3
7 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.5
8 panniculitis 10.1
9 hypertriglyceridemia, familial 10.1
10 acanthosis nigricans 10.0
11 autoimmune disease 10.0
12 dermatomyositis 10.0
13 polyneuropathy 10.0
14 lipodystrophy, congenital generalized, type 4 9.8 CAV1 BSCL2
15 renal cell carcinoma, nonpapillary 9.8
16 myositis 9.8
17 dowling-degos disease 1 9.8
18 werner syndrome 9.8
19 lipodystrophy, familial partial, type 3 9.8
20 lipodystrophy, congenital generalized, type 1 9.8
21 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
22 fatty liver disease, nonalcoholic 1 9.8
23 exanthem 9.8
24 non-alcoholic steatohepatitis 9.8
25 pancytopenia 9.8
26 childhood type dermatomyositis 9.8
27 calcinosis 9.8
28 autoimmune hepatitis 9.8
29 membranoproliferative glomerulonephritis 9.8
30 glomerulonephritis 9.8
31 lipid metabolism disorder 9.8
32 craniopharyngioma 9.8
33 chronic inflammatory demyelinating polyradiculoneuropathy 9.8
34 demyelinating polyneuropathy 9.8
35 hemolytic anemia 9.8
36 juvenile rheumatoid arthritis 9.8
37 diabetes mellitus 9.8
38 premature aging 9.8
39 lipodystrophy, congenital generalized, type 3 9.8 CAV1 BSCL2
40 berardinelli-seip congenital lipodystrophy 9.8 CAV1 BSCL2
41 complete generalized lipodystrophy 9.8 CAV1 BSCL2
42 lipodystrophy, congenital generalized, type 2 9.8 CAV1 BSCL2
43 lipid storage disease 9.6 SREBF1 FGF21
44 inherited metabolic disorder 9.6 SREBF1 FGF21
45 leptin deficiency or dysfunction 9.5 SREBF1 FGF21
46 overnutrition 9.5 SREBF1 FGF21
47 lipodystrophy, familial partial, type 5 9.5 LMNB2 CAV1 BSCL2
48 fatty liver disease 9.4 SREBF1 FGF21
49 lysosomal storage disease 9.2 SREBF1 FGF21
50 body mass index quantitative trait locus 11 9.0 SREBF1 FGF21 CAV1

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



Diseases related to Acquired Lipodystrophy

Symptoms & Phenotypes for Acquired Lipodystrophy

MGI Mouse Phenotypes related to Acquired Lipodystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.35 BSCL2 CAV1 FGF21 LMNB2 SREBF1
2 liver/biliary system MP:0005370 8.92 BSCL2 CAV1 FGF21 SREBF1

Drugs & Therapeutics for Acquired Lipodystrophy

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pioglitazone Approved, Investigational 111025-46-8 4829
2
Fluoxymesterone Approved, Illicit 76-43-7 6446
3
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
4
2,4-thiazolidinedione Investigational 2295-31-0
5 Hypoglycemic Agents
6 Alkylating Agents
7 Immunosuppressive Agents
8 Immunologic Factors
9 Antirheumatic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Lipodystrophy Connect Patient Registry Completed NCT02577952
2 Human Immunodeficiency Virus Acquired Lipodystrophy (HAL) Classification, Measurement, & Fat Response to a Thiazolidinedione (TZD) Challenge in Differing Adult Phenotypic Presentations Completed NCT01023620 Pioglitazone
3 Cyclophosphamide in the Treatment of Panniculitis Associated Acquired Lipodystrophy Syndrome With Type 1 Diabetes Recruiting NCT03936829 Cyclophosphamide

Search NIH Clinical Center for Acquired Lipodystrophy

Genetic Tests for Acquired Lipodystrophy

Anatomical Context for Acquired Lipodystrophy

MalaCards organs/tissues related to Acquired Lipodystrophy:

40
Skin, Adipocyte, Liver

Publications for Acquired Lipodystrophy

Articles related to Acquired Lipodystrophy:

(show all 48)
# Title Authors PMID Year
1
Current Diagnosis, Treatment and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Young People 61
31434462 2020
2
Acquired lipodystrophy associated with immune checkpoint inhibitors. 61
32141964 2020
3
Metreleptin Supplementation for Improving Lipid and Glycemic Profiles in Acquired Diabetes Lipodystrophy: A Case Report. 61
31720553 2019
4
Surgical fat removal exacerbates metabolic disorders but not atherogenesis in LDLR-/- mice fed on high-fat diet. 61
31780791 2019
5
Acquired Lipodystrophy Associated With Nivolumab in a Patient With Advanced Renal Cell Carcinoma. 61
30779841 2019
6
LIFELONG PROGRESSIVE RETINAL ATROPHIC LESIONS IN A PATIENT WITH PARTIAL ACQUIRED LIPODYSTROPHY (BARRAQUER-SIMONS SYNDROME). 61
31453930 2019
7
Multiple sites acquired lipodystrophy in two siblings: a rare adverse effect of intramuscular triamcinolone. 61
31243027 2019
8
Acquired partial lipodystrophy with metabolic disease in children following hematopoietic stem cell transplantation: a report of two cases and a review of the literature. 61
31075084 2019
9
A novel paraneoplastic syndrome with acquired lipodystrophy and chronic inflammatory demyelinating polyneuropathy in an adolescent male with craniopharyngioma. 61
29455190 2018
10
Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis. 61
29610677 2018
11
Barraquer-Simons Syndrome. 61
27650233 2016
12
Serum concentrations of fibroblast growth factor 21 are elevated in patients with congenital or acquired lipodystrophy. 61
27179139 2016
13
Barraquer-Simons syndrome: a rare form of acquired lipodystrophy. 61
26987365 2016
14
Lipodystrophies: adipose tissue disorders with severe metabolic implications. 61
25833179 2015
15
Paradoxical adipose hyperplasia secondary to cryolipolysis: An underreported entity? 61
26096832 2015
16
Metreleptin and generalized lipodystrophy and evolving therapeutic perspectives. 61
26063386 2015
17
Leptin in congenital and HIV-associated lipodystrophy. 61
25267014 2015
18
Effects of leptin replacement therapy on pancreatic β-cell function in patients with lipodystrophy. 61
24496806 2014
19
A role for adipocyte-derived lipopolysaccharide-binding protein in inflammation- and obesity-associated adipose tissue dysfunction. 61
23963324 2013
20
The liver diseases of lipodystrophy: the long-term effect of leptin treatment. 61
23439261 2013
21
Leptin as a modulator of neuroendocrine function in humans. 61
22665330 2012
22
Clinical effects of long-term metreleptin treatment in patients with lipodystrophy. 61
22068254 2011
23
Clinical review#: Lipodystrophies: genetic and acquired body fat disorders. 61
21865368 2011
24
Ethanol impairs differentiation of human adipocyte stromal cells in culture. 61
21599713 2011
25
Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment. 61
20616664 2010
26
Clinical classification and treatment of congenital and acquired lipodystrophy. 61
20061300 2010
27
HIV protease inhibitors inhibit FACE1/ZMPSTE24: a mechanism for acquired lipodystrophy in patients on highly active antiretroviral therapy? 61
20074077 2010
28
Human lipodystrophies: genetic and acquired diseases of adipose tissue. 61
20551664 2010
29
Acquired generalized lipodystrophy associated with autoimmune hepatitis and low serum C4 level. 61
21274335 2010
30
Leptin in humans: lessons from translational research. 61
19176740 2009
31
Complement abnormalities in acquired lipodystrophy revisited. 61
18854390 2009
32
Predictors of acquired lipodystrophy in juvenile-onset dermatomyositis and a gradient of severity. 61
18344805 2008
33
Adipose tissue distribution and risk of metabolic disease: does thiazolidinedione-induced adipose tissue redistribution provide a clue to the answer? 61
17393135 2007
34
Childhood acquired lipodystrophy: a retrospective study. 61
17097389 2006
35
Role of CD95-mediated adipocyte loss in autoimmune lipodystrophy. 61
16368755 2006
36
Failure of fat cell proliferation, mitochondrial function and fat oxidation results in ectopic fat storage, insulin resistance and type II diabetes mellitus. 61
15592481 2004
37
The physiology of cellular liporegulation. 61
12471167 2003
38
[Diabetes and genetic and acquired lipodystrophy syndrome]. 61
12868305 2003
39
Increased fat intake, impaired fat oxidation, and failure of fat cell proliferation result in ectopic fat storage, insulin resistance, and type 2 diabetes mellitus. 61
12079864 2002
40
The molecular basis of genetic lipodystrophies. 61
12074822 2002
41
[Lipodystrophies]. 61
12015640 2002
42
Lipodystrophy. 61
11236228 2001
43
[Nonprogressive, late-onset atrophy of the cheek]. 61
11310188 2000
44
Dysregulation of insulin-like growth factors in a case of generalized acquired lipoatrophic diabetes mellitus (Lawrence Syndrome) connected with autoantibodies against adipocyte membranes. 61
9516065 1998
45
Insulin resistance in total lipodystrophy: evidence for a pre-receptor defect in insulin action. 61
3884963 1985
46
Gowers local panatrophy. 61
6530367 1984
47
The effect of diet on thermogenesis in acquired lipodystrophy. 61
481216 1979
48
[Extensive, disseminated acquired lipodystrophy]. 61
4770695 1973

Variations for Acquired Lipodystrophy

Expression for Acquired Lipodystrophy

Search GEO for disease gene expression data for Acquired Lipodystrophy.

Pathways for Acquired Lipodystrophy

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.42 SREBF1 LMNB2
2 11.08 SREBF1 BSCL2
3 10.49 SREBF1 FGF21

GO Terms for Acquired Lipodystrophy

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.13 SREBF1 CAV1 BSCL2
2 lipid droplet GO:0005811 8.62 CAV1 BSCL2

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

# Name GO ID Score Top Affiliating Genes
1 fat cell differentiation GO:0045444 9.32 SREBF1 BSCL2
2 response to progesterone GO:0032570 9.26 SREBF1 CAV1
3 lipid storage GO:0019915 9.16 CAV1 BSCL2
4 regulation of fatty acid metabolic process GO:0019217 8.96 SREBF1 CAV1
5 positive regulation of cold-induced thermogenesis GO:0120162 8.8 FGF21 CAV1 BSCL2

Sources for Acquired Lipodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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