MCID: LPD010
MIFTS: 57

Lipodystrophy

Categories: Rare diseases, Endocrine diseases, Skin diseases

Aliases & Classifications for Lipodystrophy

MalaCards integrated aliases for Lipodystrophy:

Name: Lipodystrophy 12 72 36 28 51 41 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:811
ICD10 32 E88.1
ICD9CM 34 272.6
MeSH 41 D008060
NCIt 46 C97093
KEGG 36 H01475
UMLS 69 C0023787

Summaries for Lipodystrophy

MalaCards based summary : Lipodystrophy is related to mandibuloacral dysplasia with type a lipodystrophy and autoinflammation, lipodystrophy, and dermatosis syndrome, and has symptoms including decreased adipose tissue An important gene associated with Lipodystrophy is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Pioglitazone and Ritonavir have been mentioned in the context of this disorder. Affiliated tissues include liver, adipocyte and bone, and related phenotypes are behavior/neurological and adipose tissue

Wikipedia : 72 Lipodystrophy is a disorder in which the body is unable to produce fat. The medical condition is... more...

Related Diseases for Lipodystrophy

Diseases in the Lipodystrophy family:

Localized Lipodystrophy

Diseases related to Lipodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 226)
# Related Disease Score Top Affiliating Genes
1 mandibuloacral dysplasia with type a lipodystrophy 34.1 LMNA ZMPSTE24
2 autoinflammation, lipodystrophy, and dermatosis syndrome 33.4 ADIPOQ PPARG PSMB8
3 lipodystrophy, familial partial, type 2 33.4 INS LEP LMNA
4 acquired generalized lipodystrophy 33.3 ADIPOQ LEP
5 berardinelli-seip congenital lipodystrophy 32.7 AGPAT2 BSCL2 CAV1 LEP
6 congenital generalized lipodystrophy 32.0 AGPAT2 BSCL2 CAV1 CAVIN1 INS LEP
7 familial partial lipodystrophy 31.8 AGPAT2 BSCL2 CAV1 INS LEP LMNA
8 hutchinson-gilford progeria syndrome 31.2 ADIPOQ LMNA ZMPSTE24
9 apnea, obstructive sleep 28.8 ADIPOQ INS LEP
10 sleep apnea 28.7 ADIPOQ INS LEP
11 nonalcoholic steatohepatitis 28.7 ADIPOQ INS LEP
12 fatty liver disease 28.5 ADIPOQ INS LEP PPARG
13 acanthosis nigricans 28.5 ADIPOQ INS LEP LMNA
14 diabetes mellitus 28.5 ADIPOQ INS LEP PPARG
15 multiple symmetrical lipomatosis 28.3 ADIPOQ LEP
16 body mass index quantitative trait locus 11 27.9 ADIPOQ INS LEP LIPE LPIN1 PLIN1
17 lipodystrophy, congenital generalized, type 4 12.5
18 lipodystrophy, partial, acquired 12.5
19 lipodystrophy, congenital generalized, type 2 12.5
20 lipodystrophy, congenital generalized, type 1 12.5
21 lipodystrophy, congenital generalized, type 3 12.5
22 lipodystrophy, familial partial, type 1 12.4
23 localized lipodystrophy 12.4
24 marfan lipodystrophy syndrome 12.4
25 lipodystrophy, familial partial, type 3 12.4
26 lipodystrophy, familial partial, type 4 12.3
27 lipodystrophy, familial partial, type 5 12.3
28 lipodystrophy, familial partial, type 6 12.3
29 encephalopathy, progressive, with or without lipodystrophy 12.2
30 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 12.2
31 mandibuloacral dysplasia with type b lipodystrophy 12.2
32 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 12.2
33 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis 12.1
34 familial partial lipodystrophy due to akt2 mutations 12.0
35 lipodystrophy due to peptidic growth factors deficiency 11.9
36 short syndrome 11.9
37 lipe-related familial partial lipodystrophy 11.8
38 lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones 11.8
39 keppen-lubinsky syndrome 11.7
40 lipomatosis, multiple symmetric 11.3
41 whipple disease 11.1
42 growth factors, combined defect of 11.1
43 stiff skin syndrome 11.0
44 analbuminemia 10.9
45 autoinflammation, panniculitis, and dermatosis syndrome 10.9
46 lipase deficiency, combined 10.8
47 ruijs-aalfs syndrome 10.8
48 atypical werner syndrome 10.8
49 congenital analbuminemia 10.8
50 insulin-resistance type b 10.8

Graphical network of the top 20 diseases related to Lipodystrophy:



Diseases related to Lipodystrophy

Symptoms & Phenotypes for Lipodystrophy

UMLS symptoms related to Lipodystrophy:


decreased adipose tissue

MGI Mouse Phenotypes related to Lipodystrophy:

43 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.48 BSCL2 ADIPOQ AGPAT2 CAV1 FBN1 PLIN1
2 adipose tissue MP:0005375 10.46 CAV1 AGPAT2 ADIPOQ BSCL2 PLIN1 FBN1
3 growth/size/body region MP:0005378 10.45 BSCL2 ADIPOQ AGPAT2 CAV1 FBN1 PLIN1
4 homeostasis/metabolism MP:0005376 10.42 BSCL2 ADIPOQ AGPAT2 CAV1 FBN1 PLIN1
5 cardiovascular system MP:0005385 10.38 BSCL2 ADIPOQ CAV1 FBN1 LPIN1 PPARG
6 cellular MP:0005384 10.34 ADIPOQ BSCL2 LMNB2 INS CAV1 FBN1
7 integument MP:0010771 10.33 CAV1 AGPAT2 ADIPOQ BSCL2 FBN1 PLIN1
8 endocrine/exocrine gland MP:0005379 10.31 BSCL2 ADIPOQ AGPAT2 CAV1 FBN1 LPIN1
9 hematopoietic system MP:0005397 10.29 ADIPOQ BSCL2 AGPAT2 INS CAV1 FBN1
10 liver/biliary system MP:0005370 10.28 CAV1 AGPAT2 ADIPOQ BSCL2 PLIN1 LPIN1
11 immune system MP:0005387 10.26 ADIPOQ BSCL2 AGPAT2 INS CAV1 FBN1
12 mortality/aging MP:0010768 10.25 ADIPOQ BSCL2 AGPAT2 CAV1 INS LMNB2
13 muscle MP:0005369 10.18 CAV1 ADIPOQ FBN1 PLIN1 LPIN1 PPARG
14 digestive/alimentary MP:0005381 10.15 BSCL2 AGPAT2 INS CAV1 LIPE ZMPSTE24
15 nervous system MP:0003631 10.02 LMNB2 CAV1 LPIN1 FBN1 PPARG LPIN2
16 renal/urinary system MP:0005367 10 BSCL2 ADIPOQ AGPAT2 CAV1 FBN1 PPARG
17 reproductive system MP:0005389 9.9 BSCL2 CAV1 FBN1 LPIN1 PPARG LPIN2
18 respiratory system MP:0005388 9.5 ADIPOQ LMNB2 CAV1 FBN1 CAVIN1 LEP
19 skeleton MP:0005390 9.32 ADIPOQ AGPAT2 INS CAV1 FBN1 LPIN1

Drugs & Therapeutics for Lipodystrophy

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

(show top 50) (show all 151)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pioglitazone Approved, Investigational Phase 4,Phase 3,Phase 2 111025-46-8 4829
2
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2 155213-67-5 392622
3
Lopinavir Approved Phase 4,Phase 3 192725-17-0 92727
4
Nevirapine Approved Phase 4,Phase 3,Phase 2 129618-40-2 4463
5
Zidovudine Approved Phase 4,Phase 2 30516-87-1 35370
6
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2 134678-17-4 60825
7
Stavudine Approved, Investigational Phase 4,Phase 3,Phase 2 3056-17-5 18283
8
Abacavir Approved, Investigational Phase 4,Phase 3,Phase 2 136470-78-5 441300 65140
9
Mannitol Approved, Investigational Phase 4 69-65-8 6251 453
10
Pravastatin Approved Phase 4,Phase 3,Phase 1 81093-37-0 54687
11
Saquinavir Approved, Investigational Phase 4 127779-20-8 60787
12
Indinavir Approved Phase 4,Phase 3 150378-17-9 5362440
13
Amprenavir Approved, Investigational Phase 4 161814-49-9 65016
14
Nelfinavir Approved Phase 4,Phase 1 159989-64-7 64143
15
Efavirenz Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 154598-52-4 64139
16
Metformin Approved Phase 4,Phase 2 657-24-9 4091 14219
17
Didanosine Approved Phase 4,Phase 3 69655-05-6 50599
18
Enfuvirtide Approved, Investigational Phase 4 159519-65-0 16130199
19
Tipranavir Approved, Investigational Phase 4 174484-41-4 65027
20
Emtricitabine Approved, Investigational Phase 4,Phase 3 143491-57-0 60877
21
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
22
Darunavir Approved Phase 4,Phase 2,Phase 3 635728-49-3, 206361-99-1 213039
23
Zinc Approved, Investigational Phase 4 7440-66-6 32051 23994
24
Insulin-glulisine Approved Phase 4 207748-29-6
25
Etravirine Approved Phase 4 269055-15-4 193962
26
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
27
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 59-30-3 6037
28
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
29
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 59-43-8 1130
30 tannic acid Approved, Nutraceutical Phase 4
31
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1
32 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
33 Micronutrients Phase 4,Phase 2
34 Trace Elements Phase 4,Phase 2
35 Cytochrome P-450 CYP3A Inducers Phase 4,Phase 3,Phase 2,Phase 1
36 Cytochrome P-450 CYP3A Inhibitors Phase 4,Phase 3,Phase 2
37 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
38 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
39 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
40 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
41 Vitamin B Complex Phase 4,Phase 2
42 Hormones Phase 4,Phase 3,Phase 1,Phase 2
43 Vitamins Phase 4,Phase 2
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
45 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1
46 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1
47 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
48 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
49 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
50 Liver Extracts Phase 4,Phase 2,Phase 3

Interventional clinical trials:

(show top 50) (show all 185)

# Name Status NCT ID Phase Drugs
1 Comparing a Nucleoside-Analogue-Sparing Regimen and a Protease-Inhibitor-Sparing Regimen in HIV Infected Patients Unknown status NCT00135460 Phase 4 nucleoside analogue sparing HAART regimen
2 MEDICLAS Study (Metabolic Effects of Different Classes of AntiretroviralS) Unknown status NCT00122226 Phase 4 Lopinavir/ritonavir + zidovudine + lamivudine;Lopinavir/ritonavir + nevirapine
3 SHARE: Simple HAART With Abacavir, Reyataz, and Epivir Unknown status NCT00426296 Phase 4 atazanavir (Reyataz);ritonavir (Norvir)
4 Study on the Antiviral Therapy and Immune Reconstitution of Chinese HIV/AIDS Patients Unknown status NCT00872417 Phase 4 first line ARV (3TC+NVP+D4T or 3TC+NVP+AZT);second line ARV therapy (3TC+TDF+LPV/RTV)
5 Facial Lipoatrophy Correction Experience With SCULPTRA ("FACES" Study) Completed NCT00360932 Phase 4
6 Strategies of Interruption/Reinitiation of Antiretroviral Therapy in HIV-Infected Patients With Lipodystrophy Completed NCT00646984 Phase 4 Standard continuous antiretroviral therapy;CD-4 guided therapy interruption;Viral load driven treatment interruption
7 A Study to Determine How and Why HIV-Infected Subjects on Anti-viral Treatment Develop Lipodystrophy Completed NCT00006190 Phase 4 Nelfinavir mesylate;Stavudine;Lamivudine;Efavirenz
8 Mechanisms of Lipodystrophy in HIV-Infected Pateints Completed NCT00457665 Phase 4 Viracept versus Sustiva with stavudine and epivir
9 Study of Reyataz in HIV-infected Patients With Lipodystrophy Syndrome Completed NCT00135356 Phase 4 Atazanavir (ATV) + ritonavir (RTV), continuation of backbone 2 nucleoside reverse transcriptase inhibitor (NRTIs);continuation of current HAART (boosted protease inhibitor [PI] combination + 2 NRTIs)
10 Clinical Trial to Assess the Effect of the Change of Efavirenz (EFV) for Lopinavir/Ritonavir (LPV/r) in Lipoatrophy in HIV-infected Patients Completed NCT00978237 Phase 4 EFV;LPV/r
11 Lopinavir/r Monotherapy Versus Abacavir/Lamivudine and Lopinavir/r for Limb Fat Recovery in Persons With Lipoatrophy Completed NCT00865007 Phase 4 Monotherapy (Lopinavir/ritonavir);Monotherapy (Lopinavir/ritonavir) + ABC/3TC
12 HIV Infection And Metabolic Abnormalities Protocol 1 (HAMA001) Completed NCT00192660 Phase 4 Lamivudine;Stavudine;Didanosine;Zidovudine;Tenofovir;Abacavir;Efavirenz (EFV);Nevirapine;Indinavir;Saquinavir;Amprenavir;Ritonavir;Nelfinavir;Tipranavir;enfuvirtide (T20)
13 A Study of Increased Lactic Acid and Abnormal Fat Distribution in HIV-Positive Patients Completed NCT00005764 Phase 4 Lamivudine/Zidovudine;Abacavir sulfate;Lamivudine
14 Prevention of Lipoatrophy in Patients Treated With Lopinavir/Ritonavir in Monotherapy Versus ZDV + 3TC + ABC Completed NCT00865475 Phase 4 AZT+3TC+ABV (Trizivir);Switching to LPV/r monotherapy (Kaletra)
15 Metabolic Abnormalities in HIV-infected Persons Completed NCT01612858 Phase 4 Metformin;Pioglitazone
16 The Effect of Low-Dose Human Growth Hormone Therapy in HIV Infected Patients Completed NCT00119769 Phase 4 Placebo;Genotropin (human recombinant Growth hormone)
17 Switching From Zidovudine to an NNRTI or Lopinavir/Ritonavir in Patients Treated With Zidovudine/ Lamivudine/Abacavir. Completed NCT00139178 Phase 4 Different HAART regimens
18 PREventing Progression of Adipose Tissue Redistribution Completed NCT00389194 Phase 4 continuing AZT+3TC or switching AZT+3TC to TDF+ FTC
19 Lactate Metabolism Study in HIV Infected Persons Completed NCT00202228 Phase 4 cofactor supplementation (thiamine, riboflavin, L-carnitine)
20 Pravastatin for Hyperlipidaemia in HIV. Completed NCT00227500 Phase 4 Pravastatin
21 Volume Restoration of the Aging Midface With Sculptra Aesthetic Completed NCT01307865 Phase 4 injectable poly-L-lactic acid
22 Seronegatives and Metabolic Abnormalities Protocol 2 (SAMA002): Study to Compare the Effect of Kaletra and Combivir® in HIV-Negative Healthy Subjects Completed NCT00192621 Phase 4 Combivir (zidovudine [AZT] / lamivudine [3TC]);Kaletra (lopinavir [LPVr])
23 Yoga for the Management of HIV-Metabolic Syndromes Completed NCT00627380 Phase 4
24 BASIC: Boosted Atazanavir or Saquinavir Induced Lipid Changes Completed NCT00389402 Phase 4 saquinavir/ritonavir;atazanavir/ritonavir
25 A Comparison of Three Anti-HIV Drug Combinations in HIV-Infected Patients Completed NCT00005106 Phase 4 Lamivudine/Zidovudine;Abacavir sulfate;Nelfinavir mesylate;Lamivudine;Stavudine
26 Study to Evaluate the Activity and Tolerability of Lopinavir/Ritonavir and Lamivudine Bitherapy in HIV Patients With Viral Suppression Completed NCT01471821 Phase 4 antiretroviral treatment
27 Study on the Effect of Kaletra + Nevirapine as Maintenance Bitherapy Compared to a Triple Therapy Including Kaletra + Analogues in HIV Patients Completed NCT00335686 Phase 4 Lopinavir-rtv (Kaletra): 3 capsules (600 mg)/12 h;Nevirapine (Viramune): 1 comp (200mg)/12h
28 Body Composition and Adipose Tissue in HIV Recruiting NCT03226821 Phase 4 Tesamorelin
29 Beneficial Effect of Insulin Glulisine by Lipoatrophy and Type 1 Diabetes (LAS) Enrolling by invitation NCT02914886 Phase 4 Apidra;current insulin
30 Evaluation of the Occurrence of Lipoatrophy in HIV-1 Infected Naive Patients Terminated NCT00122668 Phase 4 non-nucleoside reverse transcriptase inhibitors;nucleoside reverse transcriptase inhibitors;protease inhibitor
31 Facial Lipoatrophy Trial: Immediate Versus Deferred Injections of Poly-L-Lactic Acid for HIV Facial Lipoatrophy Terminated NCT00126308 Phase 4
32 Study Evaluating the Impact on Fat Distribution of Nucleoside Reverse Transcriptase Inhibitor (NRTI)-Sparing Regimens in Antiretroviral Experienced Patients With Lipoatrophy Terminated NCT00122655 Phase 4 non-nucleoside reverse transcriptase inhibitors;nucleoside reverse transcriptase inhibitors;protease inhibitors
33 Switching From Efavirenz to Atazanavir/ Ritonavir in HIV-infected Subjects With Good Virologic Suppression Terminated NCT01194856 Phase 4 Atazanavir/ritonavir;Efavirenz
34 Analysis of Changes in Adipose Tissue of Patients With Lipoatrophy HIV Infection Treated With Nucleoside Thymidine, After Switching to Monotherapy With Lopinavir / Ritonavir Terminated NCT01031849 Phase 4 Kaletra
35 The First Failure Study Terminated NCT01118871 Phase 4 Darunavir, Ritonavir, Truvada;Darunavir, Ritonavir and Etravirine
36 Clinical Trial to Determine the Efficacy of Sculptra™ Dermal Filler for the Correction of Contour Deformities Caused by Lipoatrophy Withdrawn NCT00360139 Phase 4
37 Novel Therapies for Metabolic Complications of Lipodystrophies Unknown status NCT00457938 Phase 2, Phase 3
38 Proton Magnetic Resonance Spectroscopy (1H MRS) in Evaluating the Bone Marrow, Muscle and Adipose Tissue on Normal and Human Immunodeficiency Virus Infected Subjects Unknown status NCT00172315 Phase 3
39 Exercise for Patients With HIV Infections Unknown status NCT00910936 Phase 2, Phase 3
40 The Use of Nutropin Depot in HIV-Infected Adult Males Unknown status NCT00286676 Phase 2, Phase 3 Nutropin
41 Trial of Leptin Replacement Therapy in Patients With Lipodystrophy Completed NCT00896298 Phase 2, Phase 3 Leptin;Placebo
42 Safety and Efficacy of Intradermal Injections of Newfill Versus Eutrophill in the Treatment of Facial Lipoatrophy in HIV-infected Patients ANRS 132 SMILE Completed NCT00383734 Phase 3
43 Polyacrylamide Hydrogel Injection in HIV-related Lipoatrophy Completed NCT01077765 Phase 3
44 TH9507 Extension Study in Patients With HIV- Associated Lipodystrophy Completed NCT00608023 Phase 3 Tesamorelin;Placebo for Tesamorelin
45 TH9507 in Patients With HIV-Associated Lipodystrophy Completed NCT00123253 Phase 3 TH9507
46 Effects of a Uridine Supplement on HIV Infected Adults With Lipoatrophy Completed NCT00307164 Phase 2, Phase 3 NucleomaxX;NucleomaxX placebo
47 Treatment of Abnormal Adipose Tissue Accumulation in HIV Patients Completed NCT00082628 Phase 3 Serostim®[somatropin (rDNA origin) for injection]
48 Safety and Effectiveness of Fenofibrate and Pravastatin in HIV-Positive Patients With Abnormal Blood Lipids Completed NCT00006412 Phase 3 Pravastatin sodium;Fenofibrate
49 Long Term Treatment Interruptions Completed NCT00433056 Phase 3 stable HAART
50 Nevirapine or Atazanavir/Ritonavir Given With Emtricitabine/Tenofovir in Human Immunodeficiency Virus (HIV)-1-infected Treatment Naive Adults Completed NCT00389207 Phase 3 nevirapine bid;nevirapine qd;atazanavir

Search NIH Clinical Center for Lipodystrophy

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: lipodystrophy

Genetic Tests for Lipodystrophy

Genetic tests related to Lipodystrophy:

# Genetic test Affiliating Genes
1 Lipodystrophy 28

Anatomical Context for Lipodystrophy

MalaCards organs/tissues related to Lipodystrophy:

38
Liver, Adipocyte, Bone, Skin, Heart, Bone Marrow, Endothelial

Publications for Lipodystrophy

Articles related to Lipodystrophy:

(show top 50) (show all 1001)
# Title Authors Year
1
Farnesyltransferase inhibitors prevent HIV protease inhibitor (lopinavir/ritonavir)-induced lipodystrophy and metabolic syndrome in mice. ( 29434718 )
2018
2
Substituting Abacavir for Stavudine in Children Who Are Virally Suppressed Without Lipodystrophy: Randomized Clinical Trial in Johannesburg, South Africa. ( 29373687 )
2018
3
Bone mineral density in familial partial lipodystrophy. ( 29078011 )
2018
4
Early commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy. ( 29329523 )
2018
5
Endoplasmic reticulum stress activation in adipose tissue induces metabolic syndrome in individuals with familial partial lipodystrophy of the Dunnigan type. ( 29449893 )
2018
6
Low expression of IL-18 and IL-18 receptor in human skeletal muscle is associated with systemic and intramuscular lipid metabolism-Role of HIV lipodystrophy. ( 29342149 )
2018
7
Acquired partial lipodystrophy after bone marrow transplant during childhood: a novel syndrome to be added to the disease classification list. ( 28721522 )
2017
8
Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges. ( 29066925 )
2017
9
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL). ( 28521875 )
2017
10
Extracellular matrix remodeling and transforming growth factor-I^ signaling abnormalities induced by lamin A/C variants that cause lipodystrophy. ( 27845687 )
2017
11
Crescentic C3 glomerulopathy with acquired partial lipodystrophy: An unusual cause of rapidly progressive renal failure. ( 28631660 )
2017
12
Acquired Generalized Lipodystrophy Following Immune Thrombocytopenia. ( 28549922 )
2017
13
Acquired partial lipodystrophy and C3 glomerulopathy: Dysregulation of the complement system as a common pathogenic mechanism. ( 29279276 )
2017
14
A lipodystrophy-causing lamin A mutant alters conformation and epigenetic regulation of the anti-adipogenic MIR335 locus. ( 28751304 )
2017
15
Adipocyte and epidermal fatty acid-binding protein serum concentrations in patients with lipodystrophy. ( 28088613 )
2017
16
Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study. ( 28754454 )
2017
17
Lamin A/C mutation associated with lipodystrophy influences adipogenic differentiation of stem cells through interaction with Notch signaling. ( 29040816 )
2017
18
Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy. ( 28916377 )
2017
19
Dipeptidyl peptidase-4 levels are increased and partially related to body fat distribution in patients with familial partial lipodystrophy type 2. ( 28450900 )
2017
20
Adipocyte-Specific Deficiency of De Novo Sphingolipid Biosynthesis Leads to Lipodystrophy and Insulin Resistance. ( 28698261 )
2017
21
Roux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1. ( 28973478 )
2017
22
Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy. ( 27862896 )
2017
23
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation. ( 28050599 )
2017
24
People living with HIV on ART have accurate perception of lipodystrophy signs: a cross-sectional study. ( 28086977 )
2017
25
Hepatic Lipodystrophy in Galloway Calves. ( 28055330 )
2017
26
Increased synovial lipodystrophy induced by high fat diet aggravates synovitis in experimental osteoarthritis. ( 29191221 )
2017
27
CASE REPORT OF SEVERE PROLIFERATIVE RETINOPATHY IN A PATIENT WITH CONGENITAL LIPODYSTROPHY. ( 28834920 )
2017
28
Centrifugal lipodystrophy of the scalp manifesting as centrifugal lipodystrophic alopecia. ( 29266423 )
2017
29
Juvenile-onset generalized lipodystrophy due to a novel heterozygous missense LMNA mutation affecting lamin C. ( 28686329 )
2017
30
Metabolic recovery of lipodystrophy, liver steatosis, and pancreatic I^ cell proliferation after the withdrawal of OSI-906. ( 28646158 )
2017
31
Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene. ( 29199204 )
2017
32
High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil. ( 29046728 )
2017
33
Normal bone density and trabecular bone score, but high serum sclerostin in congenital generalized lipodystrophy. ( 28390904 )
2017
34
The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection. ( 28791128 )
2017
35
Novel subtype of congenital partial lipodystrophy with mandibular hypoplasia, sensorineural deafness and short stature of unknown genetic origin. ( 28054466 )
2017
36
Body Composition and Metabolic Syndrome Components on Lipodystrophy Different Subtypes Associated with HIV. ( 28540084 )
2017
37
Localized Lipodystrophy following Single Dose Intramuscular Gentamycin Injection. ( 28979879 )
2017
38
Metabolic Abnormalities and Clinical Lipodystrophy in Children with Human Immunodeficiency Virus Infection: A Report from A Tertiary-Care-Center in India. ( 28787389 )
2017
39
Insulin secretory defect in familial partial lipodystrophy Type 2 and successful long-term treatment with a glucagon-like peptide 1 receptor agonist. ( 29044799 )
2017
40
A Novel Generalized Lipodystrophy-associated Progeroid Syndrome due to recurrent heterozygous LMNA p.T10I Mutation. ( 29267953 )
2017
41
"Comparing efficacy and costs of four facial fillers in HIV-associated lipodystrophy: a clinical trial." ( 29135895 )
2017
42
Congenital Generalized Lipodystrophy Type 2 in a Patient From a High-Prevalence Area. ( 29264552 )
2017
43
Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy. ( 28641778 )
2017
44
Fever, lipodystrophy and cutaneous lesions. ( 28940565 )
2017
45
Lipodystrophy among HIV-Infected Patients Attending Care and Treatment Clinics in Dar es Salaam. ( 29158917 )
2017
46
Lipodystrophy: Time for a global registry and randomized clinical trials to assess efficacy, safety and cost-effectiveness of established and novel medications. ( 28641789 )
2017
47
Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy. ( 29044029 )
2017
48
Facial soft tissue volume decreases during metreleptin treatment in patients with partial and generalized lipodystrophy. ( 28993984 )
2017
49
Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045Ca88>a88T LMNA mutation. ( 28620495 )
2017
50
Additional attention to combination antiretroviral therapy-related lipodystrophy. ( 28868242 )
2017

Variations for Lipodystrophy

Expression for Lipodystrophy

Search GEO for disease gene expression data for Lipodystrophy.

Pathways for Lipodystrophy

Pathways related to Lipodystrophy according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 ADIPOQ AGPAT2 CAV1 CIDEC INS LIPE
2
Show member pathways
12.57 ADIPOQ AGPAT2 LEP LPIN1 LPIN2 PLIN1
3
Show member pathways
12.38 CAV1 CIDEC LIPE PLIN1
4 12.33 CAV1 CAVIN1 LMNA LMNB2
5
Show member pathways
12.22 ADIPOQ INS LEP LIPE PPARG
6 12.04 ADIPOQ AGPAT2 BSCL2 INS LIPE LPIN1
7 11.6 ADIPOQ INS LEP PPARG
8 11.55 INS LPIN1 PPARG
9 11.53 ADIPOQ PLIN1 PPARG
10 11.52 ADIPOQ AGPAT2 BSCL2 INS LEP LIPE
11 11.44 AGPAT2 LPIN1 LPIN2
12 11.37 INS LIPE PLIN1
13 11.31 CAV1 INS LEP
14 10.94 ADIPOQ LEP PPARG
15
Show member pathways
10.92 LPIN1 LPIN2
16 10.8 ADIPOQ LEP LPIN1 PPARG

GO Terms for Lipodystrophy

Cellular components related to Lipodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.8 AGPAT2 BSCL2 CAV1 LPIN1 LPIN2 ZMPSTE24
2 caveola GO:0005901 9.43 CAV1 CAVIN1 LIPE
3 endoplasmic reticulum GO:0005783 9.32 ADIPOQ AGPAT2 BSCL2 CAV1 CAVIN1 CIDEC
4 lipid droplet GO:0005811 9.26 CAV1 CIDEC LIPE PLIN1
5 lamin filament GO:0005638 9.16 LMNA LMNB2

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 lipid catabolic process GO:0016042 9.76 BSCL2 LIPE PLIN1
2 cellular response to insulin stimulus GO:0032869 9.63 ADIPOQ LPIN1 PPARG
3 lipid storage GO:0019915 9.61 BSCL2 CAV1
4 nuclear envelope organization GO:0006998 9.61 LMNA ZMPSTE24
5 response to nutrient GO:0007584 9.61 ADIPOQ LEP PPARG
6 negative regulation of vascular smooth muscle cell proliferation GO:1904706 9.6 ADIPOQ PPARG
7 lipid particle organization GO:0034389 9.59 BSCL2 CIDEC
8 negative regulation of lipid catabolic process GO:0050995 9.58 BSCL2 INS
9 glucose metabolic process GO:0006006 9.58 ADIPOQ INS LEP
10 positive regulation of cellular protein metabolic process GO:0032270 9.57 ADIPOQ INS
11 fatty acid oxidation GO:0019395 9.56 ADIPOQ PPARG
12 triglyceride biosynthetic process GO:0019432 9.55 LPIN1 LPIN2
13 phosphatidylethanolamine biosynthetic process GO:0006646 9.54 LPIN1 LPIN2
14 regulation of fat cell differentiation GO:0045598 9.52 LEP PPARG
15 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.51 ADIPOQ PPARG
16 negative regulation of gluconeogenesis GO:0045721 9.49 ADIPOQ INS
17 positive regulation of insulin receptor signaling pathway GO:0046628 9.48 INS LEP
18 glucose homeostasis GO:0042593 9.46 ADIPOQ INS LEP PPARG
19 negative regulation of acute inflammatory response GO:0002674 9.37 INS PPARG
20 cellular response to hyperoxia GO:0071455 9.32 CAV1 PPARG
21 regulation of protein localization to nucleus GO:1900180 9.26 LEP LMNA
22 lipid metabolic process GO:0006629 9.23 AGPAT2 BSCL2 LEP LIPE LPIN1 LPIN2
23 fatty acid catabolic process GO:0009062 9.13 LEP LPIN1 LPIN2

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.63 ADIPOQ CAV1 CAVIN1 FBN1 INS PPARG
2 phosphatidate phosphatase activity GO:0008195 8.96 LPIN1 LPIN2
3 hormone activity GO:0005179 8.92 ADIPOQ FBN1 INS LEP

Sources for 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....