MCID: ACQ022
MIFTS: 42

Acquired Generalized Lipodystrophy

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

Aliases & Classifications for Acquired Generalized Lipodystrophy

MalaCards integrated aliases for Acquired Generalized Lipodystrophy:

Name: Acquired Generalized Lipodystrophy 50 56 52
Acquired Lipoatrophic Diabetes 50 56
Lawrence-Seip Syndrome 50 56
Lawrence Syndrome 50 56
Familial Generalized Lipodystrophy 69

Characteristics:

Orphanet epidemiological data:

56
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 3 Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Congenital Generalized, Type 2 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 all 48)
id Related Disease Score Top Affiliating Genes
1 lipodystrophy 10.3
2 acanthosis nigricans 10.1
3 intramuscular hemangioma 10.0 LEP RETN
4 not otherwise specified 3-mga-uria type 9.9 ADIPOQ LEP
5 hypomagnesemia 3, renal 9.9 ADIPOQ LEP
6 lymphoma 9.9
7 hyperlipoproteinemia type iv 9.8 ADIPOQ LEP
8 neurogenic arthropathy 9.8 ADIPOQ LEP
9 mucinoses 9.8 ADIPOQ LEP
10 exophthalmic ophthalmoplegia 9.8 ADIPOQ LEP
11 perinatal necrotizing enterocolitis 9.8 ADIPOQ LEP
12 diabetic encephalopathy 9.8 ADIPOQ LEP
13 periampullary adenoma 9.8 ADIPOQ LEP
14 skin squamous cell carcinoma 9.7 ADIPOQ LEP
15 systemic lupus erythematosus 9.7
16 autoimmune hepatitis 9.7
17 hepatitis 9.7
18 thrombocytopenia 9.7
19 panniculitis 9.7
20 pulmonary tuberculosis 9.7
21 tuberculosis 9.7
22 lupus erythematosus 9.7
23 cerebellar degeneration 9.7
24 cardiomyopathy 9.7
25 mature gastric teratoma 9.7 ADIPOQ LEP
26 angelman syndrome 9.7 ADIPOQ LEP
27 dientamoebiasis 9.6 ADIPOQ LEP
28 peroneal neuropathy 9.6 ADIPOQ LEP
29 lymphedema 9.4 ADIPOQ RETN
30 macular degeneration, age-related, 12 9.4 ADIPOQ RETN
31 pericarditis 9.3 ADIPOQ RETN
32 acquired hypoprothrombinemia 9.3 ADIPOQ LEP RETN
33 leigh syndrome with leukodystrophy 9.3 ADIPOQ LEP RETN
34 scleredema adultorum 9.3 ADIPOQ LEP RETN
35 corpus callosum agenesis of blepharophimosis robin type 9.3 ADIPOQ LEP RETN
36 nonsyndromic hereditary sensorineural hearing loss 9.3 ADIPOQ LEP RETN
37 inherited metabolic disorder 9.3 ADIPOQ LEP RETN
38 hypertrichosis 9.3 ADIPOQ LEP RETN
39 mucolipidoses 9.3 ADIPOQ LEP RETN
40 survival motor neuron spinal muscular atrophy 9.3 ADIPOQ LEP RETN
41 short bowel syndrome 9.3 ADIPOQ LEP RETN
42 chromosome 11p13 deletion syndrome, distal 9.2 ADIPOQ LEP RETN
43 antidepressant type abuse 9.2 ADIPOQ LEP RETN
44 hypertension, essential 9.2 ADIPOQ LEP RETN
45 lymphoblastic lymphoma 9.2 ADIPOQ LEP
46 hepatic adenoma, somatic 9.2 ADIPOQ LEP RETN
47 maturity-onset diabetes of the young 6 9.2 ADIPOQ LEP RETN
48 von hippel-lindau syndrome 9.1 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:

56 32 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized lipodystrophy 56 32 obligate (100%) Obligate (100%) HP:0009064
2 hyperinsulinemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000842
3 insulin-resistant diabetes mellitus 56 32 frequent (33%) Frequent (79-30%) HP:0000831
4 hepatic steatosis 56 32 frequent (33%) Frequent (79-30%) HP:0001397
5 cardiomyopathy 56 32 frequent (33%) Frequent (79-30%) HP:0001638
6 autoimmunity 56 32 frequent (33%) Frequent (79-30%) HP:0002960
7 calf muscle pseudohypertrophy 56 32 frequent (33%) Frequent (79-30%) HP:0003707
8 progeroid facial appearance 56 32 frequent (33%) Frequent (79-30%) HP:0005328
9 proteinuria 56 32 occasional (7.5%) Occasional (29-5%) HP:0000093
10 polycystic ovaries 56 32 occasional (7.5%) Occasional (29-5%) HP:0000147
11 hypertension 56 32 occasional (7.5%) Occasional (29-5%) HP:0000822
12 acanthosis nigricans 56 32 occasional (7.5%) Occasional (29-5%) HP:0000956
13 cirrhosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001394
14 acute pancreatitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001735
15 hypertriglyceridemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002155
16 generalized hirsutism 56 32 occasional (7.5%) Occasional (29-5%) HP:0002230
17 hepatomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002240
18 myopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0003198
19 abnormality of complement system 56 32 occasional (7.5%) Occasional (29-5%) HP:0005339
20 accelerated skeletal maturation 56 32 occasional (7.5%) Occasional (29-5%) HP:0005616
21 generalized hyperpigmentation 56 32 occasional (7.5%) Occasional (29-5%) HP:0007440
22 panniculitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0012490
23 lymphoma 56 32 very rare (1%) Very rare (<4-1%) HP:0002665
24 unicameral bone cyst 56 32 very rare (1%) Very rare (<4-1%) HP:0012064
25 insulin resistance 56 Very frequent (99-80%)
26 abnormality of lipid metabolism 56 Frequent (79-30%)
27 abnormality of cardiovascular system physiology 56 Frequent (79-30%)

MGI Mouse Phenotypes related to Acquired Generalized Lipodystrophy:

44
id 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:


id 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
3 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:

39
Skin, Bone, Ovary

Publications for Acquired Generalized Lipodystrophy

Articles related to Acquired Generalized Lipodystrophy:

(show all 18)
id 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
Metreleptin for injection to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy. ( 26465174 )
2015
4
Lymphoma in acquired generalized lipodystrophy. ( 25864863 )
2015
5
A Report of Three Cases With Acquired Generalized Lipodystrophy With Distinct Autoimmune Conditions Treated With Metreleptin. ( 26390101 )
2015
6
Acquired generalized lipodystrophy in a young lean Chinese girl. Case Report. ( 26859586 )
2015
7
Comment on: late-onset acquired generalized lipodystrophy with muscle involvement. ( 23985087 )
2013
8
Acquired generalized lipodystrophy associated with peripheral TA cell lymphoma with cutaneous infiltration. ( 24168394 )
2013
9
Response to comments on "Late-onset acquired generalized lipodystrophy with muscle involvement". ( 23962584 )
2013
10
Late-onset acquired generalized lipodystrophy with muscle involvement. ( 22188950 )
2012
11
Case report: unicameral bone cysts in a young patient with acquired generalized lipodystrophy. ( 19924491 )
2010
12
Acquired generalized lipodystrophy associated with autoimmune hepatitis and low serum C4 level. ( 21274335 )
2010
13
Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment. ( 20616664 )
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
A case of acquired generalized lipodystrophy with cerebellar degeneration and type 2 diabetes mellitus. ( 17491704 )
2004
17
Dysregulation of growth hormone in acquired generalized lipodystrophy. ( 15573230 )
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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.48 ADIPOQ LEP
2 response to ethanol GO:0045471 9.46 ADIPOQ LEP
3 glucose homeostasis GO:0042593 9.43 ADIPOQ LEP
4 circadian rhythm GO:0007623 9.4 ADIPOQ LEP
5 response to nutrient GO:0007584 9.37 ADIPOQ LEP
6 response to insulin GO:0032868 9.32 LEP RETN
7 glucose metabolic process GO:0006006 9.26 ADIPOQ LEP
8 response to nutrient levels GO:0031667 9.16 ADIPOQ LEP
9 fatty acid beta-oxidation GO:0006635 8.96 ADIPOQ LEP
10 response to activity GO:0014823 8.62 ADIPOQ LEP

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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