MCID: ACQ022
MIFTS: 45

Acquired Generalized Lipodystrophy

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

Aliases & Classifications for Acquired Generalized Lipodystrophy

MalaCards integrated aliases for Acquired Generalized Lipodystrophy:

Name: Acquired Generalized Lipodystrophy 49 55 36 51
Acquired Lipoatrophic Diabetes 49 55
Lawrence-Seip Syndrome 49 55
Lawrence Syndrome 49 55
Familial Generalized Lipodystrophy 69

Characteristics:

Orphanet epidemiological data:

55
acquired generalized lipodystrophy
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: All ages;

Classifications:



Summaries for Acquired Generalized Lipodystrophy

MalaCards based summary : Acquired Generalized Lipodystrophy, also known as acquired lipoatrophic diabetes, is related to lipodystrophy and acanthosis nigricans, and has symptoms including generalized lipodystrophy, hyperinsulinemia and insulin-resistant diabetes mellitus. An important gene associated with Acquired Generalized Lipodystrophy is RETN (Resistin), and among its related pathways/superpathways are Common Cytokine Receptor Gamma-Chain Family Signaling Pathways and AMP-activated Protein Kinase (AMPK) Signaling. Affiliated tissues include skin, bone and ovary, and related phenotypes are adipose tissue and liver/biliary system

Wikipedia : 72 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 52)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy 30.2 ADIPOQ LEP
2 acanthosis nigricans 30.0 ADIPOQ LEP
3 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
4 lymphoma 9.9
5 uremia 9.9 LEP RETN
6 abdominal obesity-metabolic syndrome 1 9.8 ADIPOQ LEP
7 nontuberculous mycobacterial lung disease 9.8 ADIPOQ LEP
8 prediabetes syndrome 9.8 ADIPOQ LEP
9 apnea, obstructive sleep 9.8 ADIPOQ LEP
10 endocrine pancreas disease 9.8 ADIPOQ LEP
11 severe pre-eclampsia 9.8 ADIPOQ LEP
12 eating disorder 9.8 ADIPOQ LEP
13 inherited metabolic disorder 9.8 ADIPOQ LEP
14 systemic lupus erythematosus 9.8
15 mycobacterium tuberculosis 1 9.8
16 leptin deficiency or dysfunction 9.8
17 autoimmune hepatitis 9.8
18 diabetes mellitus 9.8
19 hepatitis 9.8
20 thrombocytopenia 9.8
21 panniculitis 9.8
22 thrombocytopenia due to platelet alloimmunization 9.8
23 pulmonary tuberculosis 9.8
24 lupus erythematosus 9.8
25 cerebellar degeneration 9.8
26 sleep apnea 9.8 ADIPOQ LEP
27 arteries, anomalies of 9.7 ADIPOQ LEP
28 hyperglycemia 9.7 ADIPOQ LEP
29 atherosclerosis susceptibility 9.6 ADIPOQ RETN
30 coronary artery anomaly 9.6 ADIPOQ RETN
31 vascular disease 9.5 ADIPOQ RETN
32 liver disease 9.5 ADIPOQ LEP
33 obesity-hypoventilation syndrome 9.4 ADIPOQ LEP RETN
34 idiopathic recurrent pericarditis 9.4 ADIPOQ LEP RETN
35 multiple symmetrical lipomatosis 9.4 ADIPOQ LEP RETN
36 lutheran suppressor, x-linked 9.4 ADIPOQ LEP RETN
37 nonalcoholic steatohepatitis 9.4 ADIPOQ LEP RETN
38 coronary artery aneurysm 9.4 ADIPOQ LEP RETN
39 bulimia nervosa 2 9.4 ADIPOQ LEP RETN
40 overnutrition 9.4 ADIPOQ LEP RETN
41 morbid obesity 9.4 ADIPOQ LEP RETN
42 lipid metabolism disorder 9.4 ADIPOQ LEP RETN
43 glucose metabolism disease 9.4 ADIPOQ LEP RETN
44 acquired metabolic disease 9.4 ADIPOQ LEP RETN
45 gestational diabetes 9.4 ADIPOQ LEP RETN
46 glucose intolerance 9.4 ADIPOQ LEP RETN
47 fatty liver disease 9.4 ADIPOQ LEP RETN
48 prader-willi syndrome 9.4 ADIPOQ LEP RETN
49 hypertension, essential 9.4 ADIPOQ LEP RETN
50 body mass index quantitative trait locus 11 9.4 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:

55 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized lipodystrophy 55 31 obligate (100%) Obligate (100%) HP:0009064
2 hyperinsulinemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000842
3 insulin-resistant diabetes mellitus 55 31 frequent (33%) Frequent (79-30%) HP:0000831
4 hepatic steatosis 55 31 frequent (33%) Frequent (79-30%) HP:0001397
5 cardiomyopathy 55 31 frequent (33%) Frequent (79-30%) HP:0001638
6 autoimmunity 55 31 frequent (33%) Frequent (79-30%) HP:0002960
7 calf muscle pseudohypertrophy 55 31 frequent (33%) Frequent (79-30%) HP:0003707
8 progeroid facial appearance 55 31 frequent (33%) Frequent (79-30%) HP:0005328
9 proteinuria 55 31 occasional (7.5%) Occasional (29-5%) HP:0000093
10 polycystic ovaries 55 31 occasional (7.5%) Occasional (29-5%) HP:0000147
11 hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0000822
12 acanthosis nigricans 55 31 occasional (7.5%) Occasional (29-5%) HP:0000956
13 cirrhosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001394
14 acute pancreatitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001735
15 hypertriglyceridemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002155
16 generalized hirsutism 55 31 occasional (7.5%) Occasional (29-5%) HP:0002230
17 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
18 myopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003198
19 abnormality of complement system 55 31 occasional (7.5%) Occasional (29-5%) HP:0005339
20 accelerated skeletal maturation 55 31 occasional (7.5%) Occasional (29-5%) HP:0005616
21 generalized hyperpigmentation 55 31 occasional (7.5%) Occasional (29-5%) HP:0007440
22 panniculitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0012490
23 lymphoma 55 31 very rare (1%) Very rare (<4-1%) HP:0002665
24 astrocytoma 55 31 very rare (1%) Very rare (<4-1%) HP:0009592
25 unicameral bone cyst 55 31 very rare (1%) Very rare (<4-1%) HP:0012064
26 insulin resistance 55 Very frequent (99-80%)
27 abnormality of lipid metabolism 55 Frequent (79-30%)
28 abnormality of cardiovascular system physiology 55 Frequent (79-30%)

MGI Mouse Phenotypes related to Acquired Generalized Lipodystrophy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.13 ADIPOQ LEP RETN
2 liver/biliary system MP:0005370 8.8 ADIPOQ LEP RETN

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:

38
Skin, Bone, Ovary

Publications for Acquired Generalized Lipodystrophy

Articles related to Acquired Generalized Lipodystrophy:

(show all 18)
# Title Authors Year
1
Acquired Generalized Lipodystrophy Following Immune Thrombocytopenia. ( 28549922 )
2017
2
Cover Image: Acquired generalized lipodystrophy in a patient with systemic lupus erythematosus. ( 27484277 )
2016
3
A Report of Three Cases With Acquired Generalized Lipodystrophy With Distinct Autoimmune Conditions Treated With Metreleptin. ( 26390101 )
2015
4
Acquired generalized lipodystrophy in a young lean Chinese girl. Case Report. ( 26859586 )
2015
5
Lymphoma in acquired generalized lipodystrophy. ( 25864863 )
2015
6
Metreleptin for injection to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy. ( 26465174 )
2015
7
Response to comments on "Late-onset acquired generalized lipodystrophy with muscle involvement". ( 23962584 )
2013
8
Comment on: late-onset acquired generalized lipodystrophy with muscle involvement. ( 23985087 )
2013
9
Acquired generalized lipodystrophy associated with peripheral TA cell lymphoma with cutaneous infiltration. ( 24168394 )
2013
10
Late-onset acquired generalized lipodystrophy with muscle involvement. ( 22188950 )
2012
11
Acquired generalized lipodystrophy associated with autoimmune hepatitis and low serum C4 level. ( 21274335 )
2010
12
Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment. ( 20616664 )
2010
13
Case report: unicameral bone cysts in a young patient with acquired generalized lipodystrophy. ( 19924491 )
2010
14
Type 1 diabetes associated with acquired generalized lipodystrophy and insulin resistance: the effect of long-term leptin therapy. ( 17940115 )
2008
15
Acquired generalized lipodystrophy (panniculitis variety) triggered by pulmonary tuberculosis. ( 17651183 )
2007
16
Dysregulation of growth hormone in acquired generalized lipodystrophy. ( 15573230 )
2004
17
A case of acquired generalized lipodystrophy with cerebellar degeneration and type 2 diabetes mellitus. ( 17491704 )
2004
18
Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature. ( 12640189 )
2003

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 extracellular space GO:0005615 8.8 ADIPOQ LEP RETN

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.49 ADIPOQ LEP
2 response to ethanol GO:0045471 9.48 ADIPOQ LEP
3 glucose homeostasis GO:0042593 9.46 ADIPOQ LEP
4 circadian rhythm GO:0007623 9.43 ADIPOQ LEP
5 response to nutrient GO:0007584 9.4 ADIPOQ LEP
6 response to insulin GO:0032868 9.37 LEP RETN
7 glucose metabolic process GO:0006006 9.32 ADIPOQ LEP
8 response to nutrient levels GO:0031667 9.26 ADIPOQ LEP
9 fatty acid beta-oxidation GO:0006635 9.16 ADIPOQ LEP
10 response to activity GO:0014823 8.96 ADIPOQ LEP
11 regulation of receptor activity GO:0010469 8.8 ADIPOQ LEP RETN

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....