MCID: ACQ022
MIFTS: 54

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 lipodystrophy, familial partial, type 2 and mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome. 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 Cytoskeletal Signaling. The drugs Insulin, Globin Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and ovary, 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 79)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, familial partial, type 2 30.0 AGPAT2 INS LEP LMNA
2 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 29.9 ADIPOQ AGPAT2 BSCL2 INS LMNA
3 acanthosis nigricans 29.8 ADIPOQ INS LEP LMNA PPARG
4 diabetes mellitus, noninsulin-dependent 29.0 ADIPOQ INS LEP LMNA PLIN1 PPARG
5 diabetes mellitus 28.8 ADIPOQ INS LEP PLIN1 PPARG RETN
6 obesity-hypoventilation syndrome 10.3 ADIPOQ LEP RETN
7 idiopathic recurrent pericarditis 10.3 ADIPOQ LEP RETN
8 coronary artery aneurysm 10.3 ADIPOQ LEP RETN
9 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.3 INS LEP
10 fatty liver disease 10.3 ADIPOQ INS LEP
11 lipodystrophy, familial partial, type 4 10.3 LMNA PLIN1
12 mandibuloacral dysplasia with type a lipodystrophy 10.3 LMNA ZMPSTE24
13 nonalcoholic steatohepatitis 10.2 ADIPOQ INS LEP
14 apnea, obstructive sleep 10.2 ADIPOQ INS LEP
15 endocrine pancreas disease 10.2 ADIPOQ INS LEP
16 anorexia nervosa 10.2 ADIPOQ LEP RETN
17 atypical werner syndrome 10.2 LMNA WRN
18 pigmentation disease 10.2 AGPAT2 BSCL2 INS
19 inherited metabolic disorder 10.2 ADIPOQ INS LEP
20 nonalcoholic fatty liver disease 10.2 ADIPOQ INS LEP
21 sleep apnea 10.2 ADIPOQ INS LEP
22 uremia 10.2 INS LEP RETN
23 adiposis dolorosa 10.2 AGPAT2 CIDEC ZMPSTE24
24 fatty liver disease, nonalcoholic 1 10.2 ADIPOQ INS LEP RETN
25 restrictive dermopathy, lethal 10.1 LMNA ZMPSTE24
26 gestational diabetes 10.1 ADIPOQ INS LEP RETN
27 coronary heart disease 1 10.1 ADIPOQ INS RETN
28 classic phenylketonuria 10.1
29 prader-willi syndrome 10.1 ADIPOQ INS LEP RETN
30 acroosteolysis 10.1 LMNA ZMPSTE24
31 hypertension, essential 10.1 ADIPOQ INS LEP RETN
32 reynolds syndrome 10.1 LMNA LMNB2 ZMPSTE24
33 lymphoma 10.0
34 werner syndrome 10.0 LMNA RECQL5 WRN
35 ovarian cystadenoma 10.0 LMNA ZMPSTE24
36 berardinelli-seip congenital lipodystrophy 10.0 AGPAT2 BSCL2 CAV1 LEP
37 idiopathic edema 10.0 ADIPOQ INS PPARG
38 lipodystrophy, congenital generalized, type 3 10.0 AGPAT2 BSCL2 CAV1 CAVIN1
39 autosomal genetic disease 10.0 INS LMNA WRN
40 lipodystrophy, familial partial, type 3 9.9 AGPAT2 BSCL2 LMNA PPARG
41 abdominal obesity-metabolic syndrome 1 9.9 ADIPOQ INS LEP PPARG
42 atherosclerosis susceptibility 9.9 ADIPOQ INS PPARG
43 prediabetes syndrome 9.9 ADIPOQ INS LEP PPARG
44 systemic lupus erythematosus 9.9
45 leptin deficiency or dysfunction 9.9
46 autoimmune hepatitis 9.9
47 common variable immunodeficiency 9.9
48 hepatitis 9.9
49 thrombocytopenia 9.9
50 panniculitis 9.9

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 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.41 ADIPOQ AGL AGPAT2 BSCL2 CAV1 CAVIN1
2 adipose tissue MP:0005375 10.4 ADIPOQ AGPAT2 BSCL2 CAV1 CIDEC INS
3 behavior/neurological MP:0005386 10.4 ADIPOQ AGL AGPAT2 BSCL2 CAV1 CAVIN1
4 growth/size/body region MP:0005378 10.38 ADIPOQ AGPAT2 BSCL2 CAV1 CAVIN1 CIDEC
5 cellular MP:0005384 10.35 ADIPOQ BSCL2 CAV1 CAVIN1 INS LEP
6 integument MP:0010771 10.29 ADIPOQ AGPAT2 BSCL2 CAV1 CIDEC INS
7 cardiovascular system MP:0005385 10.27 ADIPOQ BSCL2 CAV1 CAVIN1 INS LEP
8 endocrine/exocrine gland MP:0005379 10.25 ADIPOQ AGPAT2 BSCL2 CAV1 INS LEP
9 liver/biliary system MP:0005370 10.25 ADIPOQ AGL AGPAT2 BSCL2 CAV1 CIDEC
10 immune system MP:0005387 10.24 ADIPOQ AGPAT2 BSCL2 CAV1 INS LEP
11 hematopoietic system MP:0005397 10.22 ADIPOQ AGPAT2 BSCL2 CAV1 INS LEP
12 mortality/aging MP:0010768 10.22 ADIPOQ AGL AGPAT2 BSCL2 CAV1 CAVIN1
13 digestive/alimentary MP:0005381 10.16 AGPAT2 BSCL2 CAV1 INS LEP LMNA
14 muscle MP:0005369 10.11 ADIPOQ AGL CAV1 CAVIN1 INS LEP
15 renal/urinary system MP:0005367 10.02 ADIPOQ AGPAT2 BSCL2 CAV1 CAVIN1 INS
16 limbs/digits/tail MP:0005371 9.93 AGL AGPAT2 LEP LMNA WRN ZMPSTE24
17 reproductive system MP:0005389 9.86 BSCL2 CAV1 INS LEP LMNA LMNB2
18 respiratory system MP:0005388 9.7 ADIPOQ AGL CAV1 CAVIN1 LEP LMNA
19 skeleton MP:0005390 9.7 ADIPOQ AGL AGPAT2 BSCL2 CAV1 INS
20 vision/eye MP:0005391 9.17 AGL CIDEC INS LEP LMNA PPARG

Drugs & Therapeutics for Acquired Generalized Lipodystrophy

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Insulin, Globin Zinc Phase 2, Phase 3
2 insulin Phase 2, Phase 3
3
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
4 Laxatives Phase 2
5 Cathartics Phase 2
6 Gastrointestinal Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Compassionate Use of Metreleptin in Previously Treated People With Partial Lipodystrophy Enrolling by invitation NCT02262806 Phase 3 Metreleptin
2 Compassionate Use of Metreleptin in Previously Treated People With Generalized Lipodystrophy Enrolling by invitation NCT02262832 Phase 3 Metreleptin
3 Trial of Leptin Replacement Therapy in Patients With Lipodystrophy Completed NCT00896298 Phase 2, Phase 3 Leptin;Placebo
4 Expanded Access Metreleptin Study Active, not recruiting NCT02404896 Phase 2 Metreleptin
5 Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients Recruiting NCT02430077 Phase 2 Obeticholic Acid;Placebo
6 Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With With Familial Partial Lipodystrophy (FPL) Active, not recruiting NCT03514420 Phase 2 AKCEA-ANGPTL3-LRX
7 Leptin to Treat Lipodystrophy Completed NCT00025883 Phase 2 Metreleptin
8 Registry for Patients With Lipodystrophy Recruiting NCT03553420
9 Lipodystrophy Connect Patient Registry Recruiting NCT02577952

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, Bone, Ovary

Publications for Acquired Generalized Lipodystrophy

Articles related to Acquired Generalized Lipodystrophy:

(show all 26)
# Title Authors Year
1
First case report of acquired generalized lipodystrophy associated with common variable immunodeficiency. ( 29846625 )
2018
2
Autoantibodies Against Perilipin 1 as a Cause of Acquired Generalized Lipodystrophy. ( 30283460 )
2018
3
Acquired Generalized Lipodystrophy Following Immune Thrombocytopenia. ( 28549922 )
2017
4
Cover Image: Acquired generalized lipodystrophy in a patient with systemic lupus erythematosus. ( 27484277 )
2016
5
Metreleptin for injection to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy. ( 26465174 )
2015
6
Acquired generalized lipodystrophy in a young lean Chinese girl. Case Report. ( 26859586 )
2015
7
Lymphoma in acquired generalized lipodystrophy. ( 25864863 )
2015
8
A Report of Three Cases With Acquired Generalized Lipodystrophy With Distinct Autoimmune Conditions Treated With Metreleptin. ( 26390101 )
2015
9
Comment on: late-onset acquired generalized lipodystrophy with muscle involvement. ( 23985087 )
2013
10
Acquired generalized lipodystrophy associated with peripheral TA cell lymphoma with cutaneous infiltration. ( 24168394 )
2013
11
Response to comments on &amp;quot;Late-onset acquired generalized lipodystrophy with muscle involvement&amp;quot;. ( 23962584 )
2013
12
Late-onset acquired generalized lipodystrophy with muscle involvement. ( 22188950 )
2012
13
Acquired generalized lipodystrophy associated with autoimmune hepatitis and low serum C4 level. ( 21274335 )
2010
14
Case report: unicameral bone cysts in a young patient with acquired generalized lipodystrophy. ( 19924491 )
2010
15
Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment. ( 20616664 )
2010
16
Type 1 diabetes associated with acquired generalized lipodystrophy and insulin resistance: the effect of long-term leptin therapy. ( 17940115 )
2008
17
Acquired generalized lipodystrophy (panniculitis variety) triggered by pulmonary tuberculosis. ( 17651183 )
2007
18
A case of acquired generalized lipodystrophy with cerebellar degeneration and type 2 diabetes mellitus. ( 17491704 )
2004
19
Dysregulation of growth hormone in acquired generalized lipodystrophy. ( 15573230 )
2004
20
Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature. ( 12640189 )
2003
21
Generalized lipodystrophy, congenital (Berardinelli-Seip syndrome) and aquired (lipoatrophy, Seip-Lawrence syndrome). Proceedings of a symposium. Oslo, Norway, 6 June 1996. ( 8963070 )
1996
22
Seip-lawrence Syndrome (Three Cases in a Family). ( 28150600 )
1986
23
Seip-Lawrence syndrome (congenital generalised lipodystrophy)--a case report. ( 7182364 )
1982
24
A case of Seip-Lawrence syndrome with acanthosis nigricans. ( 5976623 )
1966
25
Congenital lipodystrophic diabetes with acanthosis nigricans. The Seip-Lawrence syndrome. ( 9626079 )
1965
26
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

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.65 ADIPOQ CAV1 CAVIN1 PPARG ZMPSTE24
2 lipid droplet GO:0005811 9.33 CAV1 CIDEC PLIN1
3 endoplasmic reticulum GO:0005783 9.23 ADIPOQ AGPAT2 BSCL2 CAV1 CAVIN1 CIDEC
4 lamin filament GO:0005638 8.96 LMNA LMNB2

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.85 AGPAT2 BSCL2 LEP PLIN1 PPARG
2 lipid storage GO:0019915 9.61 BSCL2 CAV1
3 glucose metabolic process GO:0006006 9.61 ADIPOQ INS LEP
4 regulation of glucose metabolic process GO:0010906 9.6 ADIPOQ ZMPSTE24
5 regulation of nitric-oxide synthase activity GO:0050999 9.59 CAV1 LEP
6 lipid droplet organization GO:0034389 9.58 BSCL2 CIDEC
7 nuclear envelope organization GO:0006998 9.58 LMNA ZMPSTE24
8 negative regulation of lipid catabolic process GO:0050995 9.57 BSCL2 INS
9 positive regulation of cellular protein metabolic process GO:0032270 9.56 ADIPOQ INS
10 positive regulation of insulin receptor signaling pathway GO:0046628 9.55 INS LEP
11 regulation of fat cell differentiation GO:0045598 9.54 LEP PPARG
12 fatty acid oxidation GO:0019395 9.52 ADIPOQ PPARG
13 determination of adult lifespan GO:0008340 9.51 WRN ZMPSTE24
14 negative regulation of gluconeogenesis GO:0045721 9.49 ADIPOQ INS
15 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.48 ADIPOQ PPARG
16 glucose homeostasis GO:0042593 9.46 ADIPOQ INS LEP PPARG
17 cellular response to hyperoxia GO:0071455 9.4 CAV1 PPARG
18 negative regulation of acute inflammatory response GO:0002674 9.37 INS PPARG
19 negative regulation of feeding behavior GO:2000252 9.32 INS RETN
20 regulation of protein localization to nucleus GO:1900180 9.26 LEP LMNA
21 positive regulation of cold-induced thermogenesis GO:0120162 9.26 ADIPOQ BSCL2 CAV1 LEP
22 response to nutrient GO:0007584 8.92 ADIPOQ AGL LEP PPARG

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.7 ADIPOQ CAV1 CAVIN1 INS NCR3 PPARG
2 ATP-dependent helicase activity GO:0008026 9.32 RECQL5 WRN
3 ATP-dependent 3'-5' DNA helicase activity GO:0043140 9.26 RECQL5 WRN
4 four-way junction helicase activity GO:0009378 8.96 RECQL5 WRN
5 hormone activity GO:0005179 8.92 ADIPOQ INS 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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