MCID: ACQ022
MIFTS: 51

Acquired Generalized Lipodystrophy

Categories: Endocrine diseases, Genetic diseases, Muscle diseases, Rare diseases, Skin diseases

Aliases & Classifications for Acquired Generalized Lipodystrophy

MalaCards integrated aliases for Acquired Generalized Lipodystrophy:

Name: Acquired Generalized Lipodystrophy 12 54 60 38 56 15
Lawrence Syndrome 12 54 60
Acquired Lipoatrophic Diabetes 54 60
Lawrence-Seip Syndrome 54 60
Familial Generalized Lipodystrophy 74

Characteristics:

Orphanet epidemiological data:

60
acquired generalized lipodystrophy
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: All ages;

Classifications:



Summaries for Acquired Generalized Lipodystrophy

Disease Ontology : 12 A complete generalized lipodystrophy that is charcterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth.

MalaCards based summary : Acquired Generalized Lipodystrophy, also known as lawrence syndrome, is related to mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome and acanthosis nigricans. An important gene associated with Acquired Generalized Lipodystrophy is RETN (Resistin), and among its related pathways/superpathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Common Cytokine Receptor Gamma-Chain Family Signaling Pathways. The drugs insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and bone, and related phenotypes are generalized lipodystrophy and hyperinsulinemia

Wikipedia : 77 Acquired generalized lipodystrophy (also known as "Lawrence syndrome," and "Lawrence–Seip syndrome",... more...

Related Diseases for Acquired Generalized Lipodystrophy

Diseases in the Acquired Generalized Lipodystrophy family:

Lipodystrophy, Congenital Generalized, Type 2 Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Congenital Generalized, Type 3 Lipodystrophy, Congenital Generalized, Type 4
Congenital Generalized Lipodystrophy

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

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.3 ADIPOQ AGPAT2 BSCL2
2 acanthosis nigricans 30.1 ADIPOQ LEP
3 lipodystrophy, familial partial, type 2 29.5 AGPAT2 LEP
4 diabetes mellitus, noninsulin-dependent 29.2 ADIPOQ LEP RETN
5 diabetes mellitus 29.1 ADIPOQ LEP RETN
6 lymphoma 10.1
7 fatty liver disease 10.0 ADIPOQ LEP
8 abdominal obesity-metabolic syndrome 1 10.0 ADIPOQ LEP
9 nontuberculous mycobacterial lung disease 10.0 ADIPOQ LEP
10 nonalcoholic steatohepatitis 10.0 ADIPOQ LEP
11 prediabetes syndrome 10.0 ADIPOQ LEP
12 apnea, obstructive sleep 10.0 ADIPOQ LEP
13 endocrine pancreas disease 10.0 ADIPOQ LEP
14 severe pre-eclampsia 10.0 ADIPOQ LEP
15 proteasome-associated autoinflammatory syndrome 1 10.0 ADIPOQ RETN
16 inherited metabolic disorder 9.9 ADIPOQ LEP
17 eating disorder 9.9 ADIPOQ LEP
18 uremia 9.9 LEP RETN
19 nonalcoholic fatty liver disease 9.9 ADIPOQ LEP
20 sleep apnea 9.9 ADIPOQ LEP
21 systemic lupus erythematosus 9.9
22 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.9
23 autoimmune hepatitis 9.9
24 common variable immunodeficiency 9.9
25 hepatitis 9.9
26 peripheral t-cell lymphoma 9.9
27 thrombocytopenia 9.9
28 panniculitis 9.9
29 thrombocytopenia due to platelet alloimmunization 9.9
30 pulmonary tuberculosis 9.9
31 lupus erythematosus 9.9
32 cerebellar degeneration 9.9
33 lipodystrophy, congenital generalized, type 2 9.9 AGPAT2 BSCL2
34 spastic paraplegia 17, autosomal dominant 9.9 AGPAT2 BSCL2
35 arteries, anomalies of 9.9 ADIPOQ LEP
36 fibrous dysplasia 9.9
37 lipodystrophy, familial partial, type 3 9.9 AGPAT2 BSCL2
38 pigmentation disease 9.9 AGPAT2 BSCL2
39 lipodystrophy, congenital generalized, type 3 9.9 AGPAT2 BSCL2
40 coronary heart disease 1 9.8 ADIPOQ RETN
41 obesity-hypoventilation syndrome 9.8 ADIPOQ LEP RETN
42 idiopathic recurrent pericarditis 9.8 ADIPOQ LEP RETN
43 fatty liver disease, nonalcoholic 1 9.8 ADIPOQ LEP RETN
44 coronary artery aneurysm 9.8 ADIPOQ LEP RETN
45 3-hydroxyacyl-coa dehydrogenase deficiency 9.8 ADIPOQ LEP RETN
46 overnutrition 9.8 ADIPOQ LEP RETN
47 lipid metabolism disorder 9.8 ADIPOQ LEP RETN
48 glucose metabolism disease 9.8 ADIPOQ LEP RETN
49 acquired metabolic disease 9.8 ADIPOQ LEP RETN
50 gestational diabetes 9.8 ADIPOQ LEP RETN

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



Diseases related to Acquired Generalized Lipodystrophy

Symptoms & Phenotypes for Acquired Generalized Lipodystrophy

Human phenotypes related to Acquired Generalized Lipodystrophy:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized lipodystrophy 60 33 obligate (100%) Obligate (100%) HP:0009064
2 hyperinsulinemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000842
3 hepatic steatosis 60 33 frequent (33%) Frequent (79-30%) HP:0001397
4 autoimmunity 60 33 frequent (33%) Frequent (79-30%) HP:0002960
5 cardiomyopathy 60 33 frequent (33%) Frequent (79-30%) HP:0001638
6 insulin-resistant diabetes mellitus 60 33 frequent (33%) Frequent (79-30%) HP:0000831
7 calf muscle pseudohypertrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003707
8 progeroid facial appearance 60 33 frequent (33%) Frequent (79-30%) HP:0005328
9 hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0000822
10 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
11 proteinuria 60 33 occasional (7.5%) Occasional (29-5%) HP:0000093
12 myopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003198
13 hypertriglyceridemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002155
14 acanthosis nigricans 60 33 occasional (7.5%) Occasional (29-5%) HP:0000956
15 generalized hirsutism 60 33 occasional (7.5%) Occasional (29-5%) HP:0002230
16 cirrhosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001394
17 polycystic ovaries 60 33 occasional (7.5%) Occasional (29-5%) HP:0000147
18 generalized hyperpigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007440
19 accelerated skeletal maturation 60 33 occasional (7.5%) Occasional (29-5%) HP:0005616
20 abnormality of complement system 60 33 occasional (7.5%) Occasional (29-5%) HP:0005339
21 panniculitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0012490
22 acute pancreatitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001735
23 lymphoma 60 33 very rare (1%) Very rare (<4-1%) HP:0002665
24 astrocytoma 60 33 very rare (1%) Very rare (<4-1%) HP:0009592
25 unicameral bone cyst 60 33 very rare (1%) Very rare (<4-1%) HP:0012064
26 abnormality of lipid metabolism 60 Frequent (79-30%)
27 abnormality of cardiovascular system physiology 60 Frequent (79-30%)
28 insulin resistance 60 Very frequent (99-80%)

MGI Mouse Phenotypes related to Acquired Generalized Lipodystrophy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.83 ADIPOQ AGPAT2 BSCL2 LEP RETN
2 homeostasis/metabolism MP:0005376 9.77 ADIPOQ AGPAT2 BSCL2 LEP RETN
3 immune system MP:0005387 9.72 ADIPOQ AGPAT2 BSCL2 LEP RETN
4 endocrine/exocrine gland MP:0005379 9.71 ADIPOQ AGPAT2 BSCL2 LEP
5 integument MP:0010771 9.56 ADIPOQ AGPAT2 BSCL2 LEP
6 liver/biliary system MP:0005370 9.55 ADIPOQ AGPAT2 BSCL2 LEP RETN
7 renal/urinary system MP:0005367 9.26 ADIPOQ AGPAT2 BSCL2 LEP
8 skeleton MP:0005390 8.92 ADIPOQ AGPAT2 BSCL2 LEP

Drugs & Therapeutics for Acquired Generalized Lipodystrophy

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

(show all 12)
# 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
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
8 Alkylating Agents Not Applicable
9 Immunologic Factors Not Applicable
10 Immunosuppressive Agents Not Applicable
11 Antirheumatic Agents Not Applicable
12 Antineoplastic Agents, Alkylating Not Applicable

Interventional clinical trials:


# 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 Compassionate Use of Metreleptin in Previously Treated People With Partial Lipodystrophy Enrolling by invitation NCT02262806 Phase 3 Metreleptin
3 Compassionate Use of Metreleptin in Previously Treated People With Generalized Lipodystrophy Enrolling by invitation NCT02262832 Phase 3 Metreleptin
4 Leptin to Treat Lipodystrophy Completed NCT00025883 Phase 2 Metreleptin
5 Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients Recruiting NCT02430077 Phase 2 Obeticholic Acid;Placebo
6 Expanded Access Metreleptin Study Active, not recruiting NCT02404896 Phase 2 Metreleptin
7 Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With With Familial Partial Lipodystrophy (FPL) Active, not recruiting NCT03514420 Phase 2 AKCEA-ANGPTL3-LRX
8 Lipodystrophy Connect Patient Registry Completed NCT02577952
9 Cyclophosphamide in the Treatment of Associated Acquired Lipodystrophy Syndrome With Type 1 Diabetes Recruiting NCT03936829 Not Applicable Cyclophosphamide
10 Registry for Patients With Lipodystrophy Recruiting NCT03553420

Search NIH Clinical Center for Acquired Generalized Lipodystrophy

Genetic Tests for Acquired Generalized Lipodystrophy

Anatomical Context for Acquired Generalized Lipodystrophy

MalaCards organs/tissues related to Acquired Generalized Lipodystrophy:

42
Skin, Liver, Bone, Ovary, T Cells, Adipocyte, Heart

Publications for Acquired Generalized Lipodystrophy

Articles related to Acquired Generalized Lipodystrophy:

(show all 29)
# Title Authors Year
1
Diagnosis of acquired generalized lipodystrophy in a single patient with T-cell lymphoma and no exposure to Metreleptin. ( 30923630 )
2019
2
Acquired generalized lipodystrophy under immune checkpoint inhibition. ( 31077337 )
2019
3
Case Report of Acquired Generalized Lipodystrophy Associated With Common Variable Immunodeficiency. ( 29846625 )
2018
4
Autoantibodies Against Perilipin 1 as a Cause of Acquired Generalized Lipodystrophy. ( 30283460 )
2018
5
Acquired Generalized Lipodystrophy Following Immune Thrombocytopenia. ( 28549922 )
2017
6
Metreleptin for injection to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy. ( 26465174 )
2016
7
Cover Image: Acquired generalized lipodystrophy in a patient with systemic lupus erythematosus. ( 27484277 )
2016
8
Lymphoma in acquired generalized lipodystrophy. ( 25864863 )
2016
9
A Report of Three Cases With Acquired Generalized Lipodystrophy With Distinct Autoimmune Conditions Treated With Metreleptin. ( 26390101 )
2015
10
Acquired generalized lipodystrophy in a young lean Chinese girl. Case Report. ( 26859586 )
2015
11
Acquired generalized lipodystrophy associated with peripheral T cell lymphoma with cutaneous infiltration. ( 24168394 )
2015
12
Response to comments on "Late-onset acquired generalized lipodystrophy with muscle involvement". ( 23962584 )
2013
13
Comment on: late-onset acquired generalized lipodystrophy with muscle involvement. ( 23985087 )
2013
14
Late-onset acquired generalized lipodystrophy with muscle involvement. ( 22188950 )
2012
15
Case report: unicameral bone cysts in a young patient with acquired generalized lipodystrophy. ( 19924491 )
2010
16
Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment. ( 20616664 )
2010
17
Acquired generalized lipodystrophy associated with autoimmune hepatitis and low serum C4 level. ( 21274335 )
2010
18
Type 1 diabetes associated with acquired generalized lipodystrophy and insulin resistance: the effect of long-term leptin therapy. ( 17940115 )
2008
19
Acquired generalized lipodystrophy (panniculitis variety) triggered by pulmonary tuberculosis. ( 17651183 )
2007
20
Dysregulation of growth hormone in acquired generalized lipodystrophy. ( 15573230 )
2004
21
A case of acquired generalized lipodystrophy with cerebellar degeneration and type 2 diabetes mellitus. ( 17491704 )
2004
22
Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature. ( 12640189 )
2003
23
Dysregulation of insulin-like growth factors in a case of generalized acquired lipoatrophic diabetes mellitus (Lawrence Syndrome) connected with autoantibodies against adipocyte membranes. ( 9516065 )
1998
24
Generalized lipodystrophy, congenital (Berardinelli-Seip syndrome) and aquired (lipoatrophy, Seip-Lawrence syndrome). Proceedings of a symposium. Oslo, Norway, 6 June 1996. ( 8963070 )
1996
25
Seip-lawrence Syndrome (Three Cases in a Family). ( 28150600 )
1986
26
Seip-Lawrence syndrome (congenital generalised lipodystrophy)--a case report. ( 7182364 )
1982
27
A case of Seip-Lawrence syndrome with acanthosis nigricans. ( 5976623 )
1966
28
Congenital lipodystrophic diabetes with acanthosis nigricans. The Seip-Lawrence syndrome. ( 9626079 )
1965
29
CONGENITAL LIPODYSTROPHIC DIABETES WITH ACANTHOSIS NIGRICANS: THE SEIP-LAWRENCE SYNDROME. ( 14275494 )
1965

Variations for Acquired Generalized Lipodystrophy

Expression for Acquired Generalized Lipodystrophy

Search GEO for disease gene expression data for Acquired Generalized Lipodystrophy.

Pathways for Acquired Generalized Lipodystrophy

GO Terms for Acquired Generalized Lipodystrophy

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.65 AGPAT2 BSCL2 LEP
2 response to ethanol GO:0045471 9.54 ADIPOQ LEP
3 glucose homeostasis GO:0042593 9.52 ADIPOQ LEP
4 circadian rhythm GO:0007623 9.51 ADIPOQ LEP
5 regulation of signaling receptor activity GO:0010469 9.5 ADIPOQ LEP RETN
6 response to nutrient GO:0007584 9.49 ADIPOQ LEP
7 fat cell differentiation GO:0045444 9.46 BSCL2 RETN
8 response to insulin GO:0032868 9.43 LEP RETN
9 glucose metabolic process GO:0006006 9.4 ADIPOQ LEP
10 response to nutrient levels GO:0031667 9.37 ADIPOQ LEP
11 fatty acid beta-oxidation GO:0006635 9.26 ADIPOQ LEP
12 response to activity GO:0014823 9.16 ADIPOQ LEP
13 positive regulation of cytokine production GO:0001819 8.96 AGPAT2 LEP
14 positive regulation of cold-induced thermogenesis GO:0120162 8.8 ADIPOQ BSCL2 LEP

Molecular functions related to Acquired Generalized Lipodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.8 ADIPOQ LEP RETN

Sources for Acquired Generalized Lipodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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