MCID: ACQ043
MIFTS: 26

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 71 C0877192
Orphanet 58 ORPHA98307

Summaries for Acquired Lipodystrophy

MalaCards based summary : Acquired Lipodystrophy is related to lipodystrophy, partial, acquired and acquired 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 Fluoxymesterone and Pioglitazone have been mentioned in the context of this disorder. Affiliated tissues include adipocyte and liver, and related phenotype is 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 43)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, partial, acquired 11.4
2 acquired generalized lipodystrophy 11.2
3 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.4
4 panniculitis 10.1
5 acanthosis nigricans 10.0
6 hypertriglyceridemia, familial 10.0
7 dermatomyositis 10.0
8 polyneuropathy 10.0
9 lipodystrophy, familial partial, type 2 9.9 SREBF1 BSCL2
10 familial partial lipodystrophy 9.9 SREBF1 BSCL2
11 berardinelli-seip congenital lipodystrophy 9.9 CAV1 BSCL2
12 lipodystrophy, congenital generalized, type 4 9.9 CAV1 BSCL2
13 lipodystrophy, congenital generalized, type 3 9.9 CAV1 BSCL2
14 complete generalized lipodystrophy 9.9 CAV1 BSCL2
15 lipodystrophy, congenital generalized, type 2 9.9 CAV1 BSCL2
16 renal cell carcinoma, nonpapillary 9.8
17 myositis 9.8
18 dowling-degos disease 1 9.8
19 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
20 exanthem 9.8
21 non-alcoholic fatty liver disease 9.8
22 non-alcoholic steatohepatitis 9.8
23 pancytopenia 9.8
24 childhood type dermatomyositis 9.8
25 calcinosis 9.8
26 autoimmune hepatitis 9.8
27 membranoproliferative glomerulonephritis 9.8
28 glomerulonephritis 9.8
29 lipid metabolism disorder 9.8
30 craniopharyngioma 9.8
31 chronic inflammatory demyelinating polyradiculoneuropathy 9.8
32 demyelinating polyneuropathy 9.8
33 hemolytic anemia 9.8
34 juvenile rheumatoid arthritis 9.8
35 lipid storage disease 9.7 SREBF1 FGF21
36 inherited metabolic disorder 9.7 SREBF1 FGF21
37 lipodystrophy, familial partial, type 5 9.7 LMNB2 CAV1 BSCL2
38 overnutrition 9.6 SREBF1 FGF21
39 leptin deficiency or dysfunction 9.5 SREBF1 FGF21
40 congenital generalized lipodystrophy 9.4 SREBF1 LMNB2 CAV1 BSCL2
41 body mass index quantitative trait locus 11 9.2 SREBF1 FGF21 CAV1
42 type 2 diabetes mellitus 9.1 SREBF1 FGF21 CAV1 BSCL2
43 diabetes mellitus 9.1 SREBF1 FGF21 CAV1 BSCL2

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 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
Fluoxymesterone Approved, Illicit 76-43-7 6446
2
Pioglitazone Approved, Investigational 111025-46-8 4829
3
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
4
2,4-thiazolidinedione Investigational 2295-31-0
5 Hypoglycemic Agents
6 Antirheumatic Agents
7 Immunosuppressive Agents
8 Alkylating Agents
9 Immunologic Factors

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
Adipocyte, Liver

Publications for Acquired Lipodystrophy

Articles related to Acquired Lipodystrophy:

(show all 49)
# Title Authors PMID Year
1
Acquired lipodystrophy associated with immune checkpoint inhibitors. 61
32141964 2020
2
Magnetic resonance spectroscopy to assess hepatic steatosis in patients with lipodystrophy. 61
32915147 2020
3
Current Diagnosis, Treatment and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Young People 61
31434462 2020
4
Metreleptin Supplementation for Improving Lipid and Glycemic Profiles in Acquired Diabetes Lipodystrophy: A Case Report. 61
31720553 2019
5
Surgical fat removal exacerbates metabolic disorders but not atherogenesis in LDLR-/- mice fed on high-fat diet. 61
31780791 2019
6
Acquired Lipodystrophy Associated With Nivolumab in a Patient With Advanced Renal Cell Carcinoma. 61
30779841 2019
7
LIFELONG PROGRESSIVE RETINAL ATROPHIC LESIONS IN A PATIENT WITH PARTIAL ACQUIRED LIPODYSTROPHY (BARRAQUER-SIMONS SYNDROME). 61
31453930 2019
8
Multiple sites acquired lipodystrophy in two siblings: a rare adverse effect of intramuscular triamcinolone. 61
31243027 2019
9
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
10
A novel paraneoplastic syndrome with acquired lipodystrophy and chronic inflammatory demyelinating polyneuropathy in an adolescent male with craniopharyngioma. 61
29455190 2018
11
Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis. 61
29610677 2018
12
Barraquer-Simons Syndrome. 61
27650233 2016
13
Serum concentrations of fibroblast growth factor 21 are elevated in patients with congenital or acquired lipodystrophy. 61
27179139 2016
14
Barraquer-Simons syndrome: a rare form of acquired lipodystrophy. 61
26987365 2016
15
Lipodystrophies: adipose tissue disorders with severe metabolic implications. 61
25833179 2015
16
Paradoxical adipose hyperplasia secondary to cryolipolysis: An underreported entity? 61
26096832 2015
17
Metreleptin and generalized lipodystrophy and evolving therapeutic perspectives. 61
26063386 2015
18
Leptin in congenital and HIV-associated lipodystrophy. 61
25267014 2015
19
Effects of leptin replacement therapy on pancreatic β-cell function in patients with lipodystrophy. 61
24496806 2014
20
A role for adipocyte-derived lipopolysaccharide-binding protein in inflammation- and obesity-associated adipose tissue dysfunction. 61
23963324 2013
21
The liver diseases of lipodystrophy: the long-term effect of leptin treatment. 61
23439261 2013
22
Leptin as a modulator of neuroendocrine function in humans. 61
22665330 2012
23
Clinical effects of long-term metreleptin treatment in patients with lipodystrophy. 61
22068254 2011
24
Clinical review#: Lipodystrophies: genetic and acquired body fat disorders. 61
21865368 2011
25
Ethanol impairs differentiation of human adipocyte stromal cells in culture. 61
21599713 2011
26
Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment. 61
20616664 2010
27
Clinical classification and treatment of congenital and acquired lipodystrophy. 61
20061300 2010
28
HIV protease inhibitors inhibit FACE1/ZMPSTE24: a mechanism for acquired lipodystrophy in patients on highly active antiretroviral therapy? 61
20074077 2010
29
Human lipodystrophies: genetic and acquired diseases of adipose tissue. 61
20551664 2010
30
Acquired generalized lipodystrophy associated with autoimmune hepatitis and low serum C4 level. 61
21274335 2010
31
Leptin in humans: lessons from translational research. 61
19176740 2009
32
Complement abnormalities in acquired lipodystrophy revisited. 61
18854390 2009
33
Predictors of acquired lipodystrophy in juvenile-onset dermatomyositis and a gradient of severity. 61
18344805 2008
34
Adipose tissue distribution and risk of metabolic disease: does thiazolidinedione-induced adipose tissue redistribution provide a clue to the answer? 61
17393135 2007
35
Childhood acquired lipodystrophy: a retrospective study. 61
17097389 2006
36
Role of CD95-mediated adipocyte loss in autoimmune lipodystrophy. 61
16368755 2006
37
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
38
[Diabetes and genetic and acquired lipodystrophy syndrome]. 61
12868305 2003
39
The physiology of cellular liporegulation. 61
12471167 2003
40
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
41
The molecular basis of genetic lipodystrophies. 61
12074822 2002
42
[Lipodystrophies]. 61
12015640 2002
43
Lipodystrophy. 61
11236228 2001
44
[Nonprogressive, late-onset atrophy of the cheek]. 61
11310188 2000
45
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
46
Insulin resistance in total lipodystrophy: evidence for a pre-receptor defect in insulin action. 61
3884963 1985
47
Gowers local panatrophy. 61
6530367 1984
48
The effect of diet on thermogenesis in acquired lipodystrophy. 61
481216 1979
49
[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 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 cellular response to starvation GO:0009267 9.37 SREBF1 CAV1
2 fat cell differentiation GO:0045444 9.32 SREBF1 BSCL2
3 response to progesterone GO:0032570 9.26 SREBF1 CAV1
4 lipid storage GO:0019915 9.16 CAV1 BSCL2
5 regulation of fatty acid metabolic process GO:0019217 8.96 SREBF1 CAV1
6 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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