MCID: ACQ022
MIFTS: 53

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 53 59 37 55 15
Lawrence Syndrome 12 53 59
Acquired Lipoatrophic Diabetes 53 59
Lawrence-Seip Syndrome 53 59
Familial Generalized Lipodystrophy 73

Characteristics:

Orphanet epidemiological data:

59
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 Cytoskeletal Signaling. Affiliated tissues include skin, bone and lung, and related phenotypes are hypertension and hepatomegaly

Wikipedia : 76 Acquired generalized lipodystrophy (also known as "Lawrence syndrome," and "Lawrence´┐Ż??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 78)
# Related Disease Score Top Affiliating Genes
1 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.0 ADIPOQ AGPAT2 BSCL2 INS LMNA
2 acanthosis nigricans 29.9 ADIPOQ INS LEP LMNA PPARG
3 diabetes mellitus, noninsulin-dependent 29.3 ADIPOQ INS LEP LMNA PLIN1 PPARG
4 diabetes mellitus 29.1 ADIPOQ INS LEP PLIN1 PPARG RETN
5 obesity-hypoventilation syndrome 10.2 ADIPOQ LEP RETN
6 idiopathic recurrent pericarditis 10.2 ADIPOQ LEP RETN
7 coronary artery aneurysm 10.2 ADIPOQ LEP RETN
8 mandibuloacral dysplasia with type a lipodystrophy 10.2 LMNA ZMPSTE24
9 lipodystrophy, familial partial, type 4 10.2 LMNA PLIN1
10 fatty liver disease 10.2 ADIPOQ INS LEP
11 anorexia nervosa 10.1 ADIPOQ LEP RETN
12 atypical werner syndrome 10.1 LMNA WRN
13 nonalcoholic steatohepatitis 10.1 ADIPOQ INS LEP
14 apnea, obstructive sleep 10.1 ADIPOQ INS LEP
15 endocrine pancreas disease 10.1 ADIPOQ INS LEP
16 restrictive dermopathy, lethal 10.1 LMNA ZMPSTE24
17 inherited metabolic disorder 10.1 ADIPOQ INS LEP
18 sleep apnea 10.1 ADIPOQ INS LEP
19 uremia 10.1 INS LEP RETN
20 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.1 INS LEP
21 reynolds syndrome 10.1 LMNA LMNB2 ZMPSTE24
22 adiposis dolorosa 10.1 AGPAT2 CIDEC ZMPSTE24
23 acroosteolysis 10.1 LMNA ZMPSTE24
24 fatty liver disease, nonalcoholic 1 10.1 ADIPOQ INS LEP RETN
25 ovarian cystadenoma 10.1 LMNA ZMPSTE24
26 gestational diabetes 10.1 ADIPOQ INS LEP RETN
27 lipodystrophy, familial partial, type 2 10.1 AGPAT2 INS LEP LMNA
28 prader-willi syndrome 10.0 ADIPOQ INS LEP RETN
29 lymphoma 10.0
30 werner syndrome 10.0 LMNA RECQL5 WRN
31 berardinelli-seip congenital lipodystrophy 10.0 AGPAT2 BSCL2 CAV1 LEP
32 hypertension, essential 10.0 ADIPOQ INS LEP RETN
33 lipodystrophy, congenital generalized, type 3 10.0 AGPAT2 BSCL2 CAV1 CAVIN1
34 idiopathic edema 10.0 ADIPOQ INS PPARG
35 lipodystrophy, familial partial, type 3 10.0 AGPAT2 BSCL2 LMNA PPARG
36 autosomal genetic disease 10.0 INS LMNA WRN
37 coronary heart disease 1 10.0 ADIPOQ INS RETN
38 atherosclerosis susceptibility 9.9 ADIPOQ INS PPARG
39 abdominal obesity-metabolic syndrome 1 9.9 ADIPOQ INS LEP PPARG
40 prediabetes syndrome 9.9 ADIPOQ INS LEP PPARG
41 lipodystrophy, familial partial, type 1 9.9 INS LEP LMNA PPARG
42 proteasome-associated autoinflammatory syndrome 1 9.9 ADIPOQ INS PPARG RETN
43 arteries, anomalies of 9.9 ADIPOQ INS LEP PPARG
44 arteriosclerosis 9.9 ADIPOQ INS PPARG
45 hyperglycemia 9.9 ADIPOQ INS LEP PPARG
46 fibrous dysplasia 9.9
47 systemic lupus erythematosus 9.9
48 leptin deficiency or dysfunction 9.9
49 autoimmune hepatitis 9.9
50 common variable immunodeficiency 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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
2 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
3 proteinuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000093
4 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
5 hypertriglyceridemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002155
6 acanthosis nigricans 59 32 occasional (7.5%) Occasional (29-5%) HP:0000956
7 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
8 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0001397
9 hyperinsulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000842
10 autoimmunity 59 32 frequent (33%) Frequent (79-30%) HP:0002960
11 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
12 cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001638
13 polycystic ovaries 59 32 occasional (7.5%) Occasional (29-5%) HP:0000147
14 lymphoma 59 32 very rare (1%) Very rare (<4-1%) HP:0002665
15 astrocytoma 59 32 very rare (1%) Very rare (<4-1%) HP:0009592
16 generalized hyperpigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007440
17 accelerated skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0005616
18 insulin-resistant diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000831
19 calf muscle pseudohypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003707
20 abnormality of complement system 59 32 occasional (7.5%) Occasional (29-5%) HP:0005339
21 progeroid facial appearance 59 32 frequent (33%) Frequent (79-30%) HP:0005328
22 generalized lipodystrophy 59 32 obligate (100%) Obligate (100%) HP:0009064
23 acute pancreatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001735
24 panniculitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012490
25 unicameral bone cyst 59 32 very rare (1%) Very rare (<4-1%) HP:0012064
26 abnormality of lipid metabolism 59 Frequent (79-30%)
27 abnormality of cardiovascular system physiology 59 Frequent (79-30%)
28 insulin resistance 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Acquired Generalized Lipodystrophy:

46 (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

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 Expanded Access Metreleptin Study Active, not recruiting NCT02404896 Phase 2 Metreleptin

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:

41
Skin, Bone, Lung, Kidney, Liver, Heart, Pancreas

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 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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