MCID: ACQ022
MIFTS: 42

Acquired Generalized Lipodystrophy malady

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

Aliases & Classifications for Acquired Generalized Lipodystrophy

Aliases & Descriptions 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:



External Ids:

Orphanet 56 ORPHA79086
UMLS via Orphanet 70 C0271693
ICD10 via Orphanet 34 E88.1

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 hypertension, hepatomegaly and proteinuria. 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. The drugs Ritonavir and Lopinavir have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and ovary, and related phenotypes are adipose tissue and liver/biliary system

Wikipedia : 71 Acquired generalized lipodystrophy (also known as \"Lawrence syndrome,\" and \"Lawrence–Seip... 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 bile duct mucoepidermoid carcinoma 10.0 LEP RETN
4 nystagmus, congenital motor, autosomal recessive 10.0 ADIPOQ LEP
5 leg dermatosis 10.0 ADIPOQ LEP
6 hyperlipoproteinemia type iv 10.0 ADIPOQ LEP
7 neurogenic arthropathy 10.0 ADIPOQ LEP
8 exophthalmic ophthalmoplegia 10.0 ADIPOQ LEP
9 cholesteatoma 9.9 ADIPOQ LEP
10 limb ischemia 9.9 ADIPOQ LEP
11 diabetic encephalopathy 9.9 ADIPOQ LEP
12 lipomatosis 9.9 ADIPOQ LEP
13 chronic tic disorder 9.9 ADIPOQ LEP
14 roifman-chitayat syndrome 9.9 ADIPOQ LEP
15 meningitis 9.9 ADIPOQ LEP
16 brain stem glioma 9.9 ADIPOQ LEP
17 lymphoma 9.9
18 lymphoblastic lymphoma 9.8 ADIPOQ RETN
19 lymphoid leukemia 9.8 ADIPOQ LEP
20 macular degeneration, age-related, 12 9.8 ADIPOQ RETN
21 acrocephalopolydactyly 9.8 ADIPOQ LEP RETN
22 malignant perineurioma 9.8 ADIPOQ LEP RETN
23 mucinoses 9.8 ADIPOQ LEP RETN
24 not otherwise specified 3-mga-uria type 9.8 ADIPOQ LEP RETN
25 cortical blindness mental retardation polydactyly 9.7 ADIPOQ LEP RETN
26 cataract 20, multiple types 9.7 ADIPOQ LEP RETN
27 mucopolysaccharidosis iii 9.7 ADIPOQ LEP RETN
28 thymus clear cell carcinoma 9.7 ADIPOQ LEP RETN
29 antidepressant type abuse 9.7 ADIPOQ LEP RETN
30 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy 9.7 ADIPOQ LEP RETN
31 adrenal adenoma 9.7 ADIPOQ LEP RETN
32 peroneal neuropathy 9.7 ADIPOQ LEP RETN
33 blind loop syndrome 9.7 ADIPOQ LEP RETN
34 body dysmorphic disorder 9.7 ADIPOQ LEP RETN
35 hypertension, essential 9.7 ADIPOQ LEP RETN
36 diabetes mellitus, insulin-dependent, 20 9.7 ADIPOQ LEP RETN
37 maturity-onset diabetes of the young 6 9.7 ADIPOQ LEP RETN
38 systemic lupus erythematosus 9.7
39 autoimmune hepatitis 9.7
40 hepatitis 9.7
41 panniculitis 9.7
42 pulmonary tuberculosis 9.7
43 tuberculosis 9.7
44 lupus erythematosus 9.7
45 cerebellar degeneration 9.7
46 cardiomyopathy 9.7
47 pericarditis 9.7 ADIPOQ RETN
48 von hippel-lindau syndrome 9.7 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 hypertension 56 32 Occasional (29-5%) HP:0000822
2 hepatomegaly 56 32 Occasional (29-5%) HP:0002240
3 proteinuria 56 32 Occasional (29-5%) HP:0000093
4 myopathy 56 32 Occasional (29-5%) HP:0003198
5 hypertriglyceridemia 56 32 Occasional (29-5%) HP:0002155
6 acanthosis nigricans 56 32 Occasional (29-5%) HP:0000956
7 generalized hirsutism 56 32 Occasional (29-5%) HP:0002230
8 hepatic steatosis 56 32 Frequent (79-30%) HP:0001397
9 hyperinsulinemia 56 32 Very frequent (99-80%) HP:0000842
10 autoimmunity 56 32 Frequent (79-30%) HP:0002960
11 cirrhosis 56 32 Occasional (29-5%) HP:0001394
12 cardiomyopathy 56 32 Frequent (79-30%) HP:0001638
13 polycystic ovaries 56 32 Occasional (29-5%) HP:0000147
14 lymphoma 56 32 Very rare (<4-1%) HP:0002665
15 generalized hyperpigmentation 56 32 Occasional (29-5%) HP:0007440
16 accelerated skeletal maturation 56 32 Occasional (29-5%) HP:0005616
17 insulin-resistant diabetes mellitus 56 32 Frequent (79-30%) HP:0000831
18 abnormality of complement system 56 32 Occasional (29-5%) HP:0005339
19 progeroid facial appearance 56 32 Frequent (79-30%) HP:0005328
20 generalized lipodystrophy 56 32 Obligate (100%) HP:0009064
21 acute pancreatitis 56 32 Occasional (29-5%) HP:0001735
22 calf muscle pseudohypertrophy 56 32 Frequent (79-30%) HP:0003707
23 panniculitis 56 32 Occasional (29-5%) HP:0012490
24 unicameral bone cyst 56 32 Very rare (<4-1%) HP:0012064
25 abnormality of lipid metabolism 56 Frequent (79-30%)
26 abnormality of cardiovascular system physiology 56 Frequent (79-30%)
27 insulin resistance 56 Very frequent (99-80%)

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

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

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
2
Lopinavir Approved Phase 4 192725-17-0 92727
3
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
4
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
5
protease inhibitors Phase 4
6 HIV Protease Inhibitors Phase 4
7 Cytochrome P-450 CYP3A Inhibitors Phase 4
8 Cytochrome P-450 Enzyme Inhibitors Phase 4
9 Nucleic Acid Synthesis Inhibitors Phase 4
10 Anti-HIV Agents Phase 4
11 Anti-Infective Agents Phase 4
12 Anti-Retroviral Agents Phase 4
13 Reverse Transcriptase Inhibitors Phase 4
14 Antiviral Agents Phase 4
15
Menthol Approved 2216-51-5 16666

Interventional clinical trials:


id Name Status NCT ID Phase
1 Lopinavir/r Monotherapy Versus Abacavir/Lamivudine and Lopinavir/r for Limb Fat Recovery in Persons With Lipoatrophy Completed NCT00865007 Phase 4
2 Compassionate Use of Metreleptin in Previously Treated People With Partial Lipodystrophy Enrolling by invitation NCT02262806 Phase 3
3 Expanded Access Metreleptin Study Active, not recruiting NCT02404896 Phase 2
4 Identification of a New Gene Involved in Hereditary Lipodystrophy Completed NCT02056912
5 Lipodystrophy Connect Patient Registry Recruiting NCT02577952
6 Inflammation, Viral Replication, and Atherosclerosis in Treated HIV Infection Active, not recruiting NCT01519141

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 17)
id Title Authors Year
1
Cover Image: Acquired generalized lipodystrophy in a patient with systemic lupus erythematosus. ( 27484277 )
2016
2
Metreleptin for injection to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy. ( 26465174 )
2015
3
A Report of Three Cases With Acquired Generalized Lipodystrophy With Distinct Autoimmune Conditions Treated With Metreleptin. ( 26390101 )
2015
4
Lymphoma in acquired generalized lipodystrophy. ( 25864863 )
2015
5
Acquired generalized lipodystrophy in a young lean Chinese girl. Case Report. ( 26859586 )
2015
6
Response to comments on "Late-onset acquired generalized lipodystrophy with muscle involvement". ( 23962584 )
2013
7
Acquired generalized lipodystrophy associated with peripheral TA cell lymphoma with cutaneous infiltration. ( 24168394 )
2013
8
Comment on: late-onset acquired generalized lipodystrophy with muscle involvement. ( 23985087 )
2013
9
Late-onset acquired generalized lipodystrophy with muscle involvement. ( 22188950 )
2012
10
Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment. ( 20616664 )
2010
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
Type 1 diabetes associated with acquired generalized lipodystrophy and insulin resistance: the effect of long-term leptin therapy. ( 17940115 )
2008
14
Acquired generalized lipodystrophy (panniculitis variety) triggered by pulmonary tuberculosis. ( 17651183 )
2007
15
Dysregulation of growth hormone in acquired generalized lipodystrophy. ( 15573230 )
2004
16
A case of acquired generalized lipodystrophy with cerebellar degeneration and type 2 diabetes mellitus. ( 17491704 )
2004
17
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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