MCID: ACQ022
MIFTS: 44

Acquired Generalized Lipodystrophy

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

Aliases & Classifications for Acquired Generalized Lipodystrophy

MalaCards integrated aliases for Acquired Generalized Lipodystrophy:

Name: Acquired Generalized Lipodystrophy 12 53 59 37 55
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 acanthosis nigricans and diabetes mellitus, noninsulin-dependent. 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 generalized lipodystrophy and hyperinsulinemia

Wikipedia : 76 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 acanthosis nigricans 29.8 ADIPOQ LEP
2 diabetes mellitus, noninsulin-dependent 28.1 ADIPOQ LEP RETN
3 diabetes mellitus 28.1 ADIPOQ LEP RETN
4 lymphoma 9.9
5 uremia 9.8 LEP RETN
6 nonalcoholic steatohepatitis 9.8 ADIPOQ LEP
7 abdominal obesity-metabolic syndrome 1 9.8 ADIPOQ LEP
8 systemic lupus erythematosus 9.8
9 leptin deficiency or dysfunction 9.8
10 autoimmune hepatitis 9.8
11 common variable immunodeficiency 9.8
12 hepatitis 9.8
13 thrombocytopenia 9.8
14 panniculitis 9.8
15 thrombocytopenia due to platelet alloimmunization 9.8
16 pulmonary tuberculosis 9.8
17 lupus erythematosus 9.8
18 cerebellar degeneration 9.8
19 nontuberculous mycobacterial lung disease 9.8 ADIPOQ LEP
20 lipodystrophy, familial partial, type 2 9.8
21 prediabetes syndrome 9.8 ADIPOQ LEP
22 apnea, obstructive sleep 9.8 ADIPOQ LEP
23 endocrine pancreas disease 9.7 ADIPOQ LEP
24 severe pre-eclampsia 9.7 ADIPOQ LEP
25 eating disorder 9.7 ADIPOQ LEP
26 hypothyroidism 9.7 LEP RETN
27 inherited metabolic disorder 9.6 ADIPOQ LEP
28 sleep apnea 9.6 ADIPOQ LEP
29 arteries, anomalies of 9.6 ADIPOQ LEP
30 coronary heart disease 1 9.6 ADIPOQ RETN
31 hyperglycemia 9.6 ADIPOQ LEP
32 chronic kidney failure 9.5 ADIPOQ LEP
33 liver disease 9.5 ADIPOQ LEP
34 vascular disease 9.2 ADIPOQ RETN
35 obesity-hypoventilation syndrome 9.1 ADIPOQ LEP RETN
36 idiopathic recurrent pericarditis 9.1 ADIPOQ LEP RETN
37 coronary artery anomaly 9.1 ADIPOQ RETN
38 coronary artery aneurysm 9.1 ADIPOQ LEP RETN
39 3-hydroxyacyl-coa dehydrogenase deficiency 9.1 ADIPOQ LEP RETN
40 overnutrition 9.1 ADIPOQ LEP RETN
41 lipid metabolism disorder 9.1 ADIPOQ LEP RETN
42 glucose metabolism disease 9.1 ADIPOQ LEP RETN
43 morbid obesity 9.1 ADIPOQ LEP RETN
44 glucose intolerance 9.1 ADIPOQ LEP RETN
45 acquired metabolic disease 9.1 ADIPOQ LEP RETN
46 gestational diabetes 9.1 ADIPOQ LEP RETN
47 anorexia nervosa 9.1 ADIPOQ LEP RETN
48 fatty liver disease 9.1 ADIPOQ LEP RETN
49 prader-willi syndrome 9.1 ADIPOQ LEP RETN
50 hypertension, essential 9.0 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:

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

MGI Mouse Phenotypes related to Acquired Generalized Lipodystrophy:

46
# 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:

41
Skin, Bone, Ovary

Publications for Acquired Generalized Lipodystrophy

Articles related to Acquired Generalized Lipodystrophy:

(show all 19)
# Title Authors Year
1
First case report of acquired generalized lipodystrophy associated with common variable immunodeficiency. ( 29846625 )
2018
2
Acquired Generalized Lipodystrophy Following Immune Thrombocytopenia. ( 28549922 )
2017
3
Cover Image: Acquired generalized lipodystrophy in a patient with systemic lupus erythematosus. ( 27484277 )
2016
4
Metreleptin for injection to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy. ( 26465174 )
2015
5
Acquired generalized lipodystrophy in a young lean Chinese girl. Case Report. ( 26859586 )
2015
6
Lymphoma in acquired generalized lipodystrophy. ( 25864863 )
2015
7
A Report of Three Cases With Acquired Generalized Lipodystrophy With Distinct Autoimmune Conditions Treated With Metreleptin. ( 26390101 )
2015
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
Response to comments on &amp;quot;Late-onset acquired generalized lipodystrophy with muscle involvement&amp;quot;. ( 23962584 )
2013
11
Late-onset acquired generalized lipodystrophy with muscle involvement. ( 22188950 )
2012
12
Acquired generalized lipodystrophy associated with autoimmune hepatitis and low serum C4 level. ( 21274335 )
2010
13
Case report: unicameral bone cysts in a young patient with acquired generalized lipodystrophy. ( 19924491 )
2010
14
Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment. ( 20616664 )
2010
15
Type 1 diabetes associated with acquired generalized lipodystrophy and insulin resistance: the effect of long-term leptin therapy. ( 17940115 )
2008
16
Acquired generalized lipodystrophy (panniculitis variety) triggered by pulmonary tuberculosis. ( 17651183 )
2007
17
A case of acquired generalized lipodystrophy with cerebellar degeneration and type 2 diabetes mellitus. ( 17491704 )
2004
18
Dysregulation of growth hormone in acquired generalized lipodystrophy. ( 15573230 )
2004
19
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 signaling 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
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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