MCID: LPD010
MIFTS: 55

Lipodystrophy malady

Categories: Skin diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Lipodystrophy

Aliases & Descriptions for Lipodystrophy:

Name: Lipodystrophy 12 29 52 42 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:811
ICD10 33 E88.1
ICD9CM 35 272.6
MeSH 42 D008060
NCIt 47 C97093
UMLS 69 C0023787

Summaries for Lipodystrophy

MalaCards based summary : Lipodystrophy is related to hutchinson-gilford progeria and lipomatosis, 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 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Common Cytokine Receptor Gamma-Chain Family Signaling Pathways. The drugs Pioglitazone and Ritonavir have been mentioned in the context of this disorder. Affiliated tissues include adipocyte, liver and bone, and related phenotypes are adipose tissue and behavior/neurological

Wikipedia : 71 Lipodystrophy is a medical condition characterized by abnormal or degenerative conditions of the body\'s... 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 203)
id Related Disease Score Top Affiliating Genes
1 hutchinson-gilford progeria 31.3 AGPAT2 BSCL2 LMNA ZMPSTE24
2 lipomatosis 29.7 ADIPOQ INS LEP PPARG
3 lipodystrophy, familial partial, 2 12.3
4 lipodystrophy, congenital generalized, type 4 12.3
5 lipodystrophy, partial, acquired 12.3
6 lipodystrophy, congenital generalized, type 1 12.3
7 congenital generalized lipodystrophy 12.3
8 familial partial lipodystrophy 12.3
9 lipodystrophy, congenital generalized, type 2 12.3
10 localized lipodystrophy 12.2
11 lipodystrophy, familial partial, type 1 12.2
12 lipodystrophy, congenital generalized, type 3 12.2
13 lipodystrophy, familial partial, type 4 12.2
14 lipodystrophy, familial partial, type 3 12.2
15 lipodystrophy, familial partial, type 5 12.2
16 autoinflammation, lipodystrophy, and dermatosis syndrome 12.2
17 acquired generalized lipodystrophy 12.2
18 lipodystrophy, familial partial, type 6 12.1
19 mandibuloacral dysplasia with type b lipodystrophy 12.1
20 encephalopathy, progressive, with or without lipodystrophy 12.0
21 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 12.0
22 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 12.0
23 marfan lipodystrophy syndrome 12.0
24 berardinelli-seip congenital lipodystrophy 11.9
25 familial partial lipodystrophy due to akt2 mutations 11.8
26 mandibuloacral dysplasia 11.8
27 lipodystrophy due to peptidic growth factors deficiency 11.8
28 progeroid and marfanoid aspect-lipodystrophy syndrome 11.8
29 short syndrome 11.7
30 lipe-related familial partial lipodystrophy 11.7
31 lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones 11.7
32 genetic lipodystrophy 11.6
33 keppen-lubinsky syndrome 11.5
34 jmp syndrome 11.3
35 growth factors, combined defect of 11.0
36 whipple disease 10.9
37 stiff skin syndrome 10.9
38 analbuminemia 10.8
39 nasu-hakola disease 10.8
40 lipomatosis, multiple symmetric 10.8
41 ruijs-aalfs syndrome 10.7
42 lipase deficiency, combined 10.7
43 otulipenia 10.7
44 congenital analbuminemia 10.7
45 peritonitis 10.6
46 igg4-related mesenteritis 10.6
47 multiple myeloma 10.3 BSCL2 LMNA
48 maturity-onset diabetes of the young, type viii 10.3 AGPAT2 LMNA
49 acquired angioedema 10.2 ADIPOQ PPARG
50 ventricular tachycardia, catecholaminergic polymorphic, 1 10.2 LMNA LMNB2 ZMPSTE24

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:

44 (show all 19)
id Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 10.46 IL18 INS LEP LIPE LMNA LPIN1
2 behavior/neurological MP:0005386 10.45 IL18 INS LEP LIPE LMNA LPIN1
3 cellular MP:0005384 10.43 CAV1 CAVIN1 EMD FBN1 IL18 INS
4 growth/size/body region MP:0005378 10.43 CAVIN1 FBN1 IL18 INS LEP LIPE
5 homeostasis/metabolism MP:0005376 10.42 ADIPOQ AGPAT2 AKT2 BSCL2 CAV1 CAVIN1
6 cardiovascular system MP:0005385 10.41 ADIPOQ BSCL2 CAV1 CAVIN1 EMD FBN1
7 endocrine/exocrine gland MP:0005379 10.35 ADIPOQ AGPAT2 AKT2 BSCL2 CAV1 FBN1
8 integument MP:0010771 10.33 FBN1 IL18 INS LEP LIPE LMNA
9 hematopoietic system MP:0005397 10.29 IL18 INS LEP LMNA PPARG ZMPSTE24
10 immune system MP:0005387 10.29 ZMPSTE24 ADIPOQ AGPAT2 AKT2 BSCL2 CAV1
11 mortality/aging MP:0010768 10.28 LEP LMNA LMNB2 LPIN1 PPARG ZMPSTE24
12 liver/biliary system MP:0005370 10.25 ADIPOQ AGPAT2 AKT2 BSCL2 CAV1 INS
13 muscle MP:0005369 10.24 ADIPOQ AKT2 CAV1 CAVIN1 EMD FBN1
14 digestive/alimentary MP:0005381 10.2 LIPE LMNA ZMPSTE24 AGPAT2 BSCL2 CAV1
15 nervous system MP:0003631 10.06 AKT2 CAV1 FBN1 IL18 INS LEP
16 renal/urinary system MP:0005367 10 ADIPOQ AGPAT2 BSCL2 CAV1 CAVIN1 FBN1
17 reproductive system MP:0005389 9.9 AKT2 BSCL2 CAV1 FBN1 INS LEP
18 respiratory system MP:0005388 9.56 LMNB2 ADIPOQ AKT2 CAV1 CAVIN1 FBN1
19 skeleton MP:0005390 9.36 ADIPOQ AGPAT2 AKT2 CAV1 FBN1 INS

Drugs & Therapeutics for Lipodystrophy

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

(show top 50) (show all 151)
id 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 65140 441300
9
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
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 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
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2 147127-20-6 464205
17
Metformin Approved Phase 4,Phase 2 657-24-9 14219 4091
18
Didanosine Approved Phase 4,Phase 3 69655-05-6 50599
19
Enfuvirtide Approved, Investigational Phase 4 159519-65-0 16130199
20
Tipranavir Approved, Investigational Phase 4 174484-41-4 65027
21
Emtricitabine Approved, Investigational Phase 4,Phase 3 143491-57-0 60877
22
Zalcitabine Approved Phase 4 7481-89-2 24066
23
Darunavir Approved Phase 4,Phase 2,Phase 3 635728-49-3, 206361-99-1 213039
24
Zinc Approved Phase 4 7440-66-6 32051 23994
25
Insulin-glulisine Approved Phase 4 207748-29-6
26
Etravirine Approved Phase 4 269055-15-4 193962
27
Benzocaine Approved Phase 4 1994-09-7, 94-09-7 2337
28
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 59-30-3 6037
29
Riboflavin Approved, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
30
Thiamine Approved, Nutraceutical, Vet_approved Phase 4 59-43-8 1130
31 tannic acid Approved, Nutraceutical Phase 4
32
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1
33 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
34 Cytochrome P-450 CYP3A Inducers Phase 4,Phase 3,Phase 2,Phase 1
35 Cytochrome P-450 CYP3A Inhibitors Phase 4,Phase 3,Phase 2
36 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
37 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
38 Trace Elements Phase 4,Phase 2
39 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
40 Hormones Phase 4,Phase 3,Phase 1,Phase 2
41 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
42 Vitamin B Complex Phase 4,Phase 2
43 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1
44 Vitamins Phase 4,Phase 2
45 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1
46 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
47 Liver Extracts Phase 4,Phase 2,Phase 3
48 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
49 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
50 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 178)
id Name Status NCT ID Phase
1 Comparing a Nucleoside-Analogue-Sparing Regimen and a Protease-Inhibitor-Sparing Regimen in HIV Infected Patients Unknown status NCT00135460 Phase 4
2 MEDICLAS Study (Metabolic Effects of Different Classes of AntiretroviralS) Unknown status NCT00122226 Phase 4
3 SHARE: Simple HAART With Abacavir, Reyataz, and Epivir Unknown status NCT00426296 Phase 4
4 Study on the Antiviral Therapy and Immune Reconstitution of Chinese HIV/AIDS Patients Unknown status NCT00872417 Phase 4
5 Facial Lipoatrophy Correction Experience With SCULPTRA ("FACES" Study) Completed NCT00360932 Phase 4
6 A Study to Determine How and Why HIV-Infected Subjects on Anti-viral Treatment Develop Lipodystrophy Completed NCT00006190 Phase 4
7 Strategies of Interruption/Reinitiation of Antiretroviral Therapy in HIV-Infected Patients With Lipodystrophy Completed NCT00646984 Phase 4
8 Mechanisms of Lipodystrophy in HIV-Infected Pateints Completed NCT00457665 Phase 4
9 Study of Reyataz in HIV-infected Patients With Lipodystrophy Syndrome Completed NCT00135356 Phase 4
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
11 Lopinavir/r Monotherapy Versus Abacavir/Lamivudine and Lopinavir/r for Limb Fat Recovery in Persons With Lipoatrophy Completed NCT00865007 Phase 4
12 A Study of Increased Lactic Acid and Abnormal Fat Distribution in HIV-Positive Patients Completed NCT00005764 Phase 4
13 HIV Infection And Metabolic Abnormalities Protocol 1 (HAMA001) Completed NCT00192660 Phase 4
14 Prevention of Lipoatrophy in Patients Treated With Lopinavir/Ritonavir in Monotherapy Versus ZDV + 3TC + ABC Completed NCT00865475 Phase 4
15 Metabolic Abnormalities in HIV-infected Persons Completed NCT01612858 Phase 4
16 The Effect of Low-Dose Human Growth Hormone Therapy in HIV Infected Patients Completed NCT00119769 Phase 4
17 Switching From Zidovudine to an NNRTI or Lopinavir/Ritonavir in Patients Treated With Zidovudine/ Lamivudine/Abacavir. Completed NCT00139178 Phase 4
18 PREventing Progression of Adipose Tissue Redistribution Completed NCT00389194 Phase 4
19 Lactate Metabolism Study in HIV Infected Persons Completed NCT00202228 Phase 4
20 Pravastatin for Hyperlipidaemia in HIV. Completed NCT00227500 Phase 4
21 Volume Restoration of the Aging Midface With Sculptra Aesthetic Completed NCT01307865 Phase 4
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
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
25 A Comparison of Three Anti-HIV Drug Combinations in HIV-Infected Patients Completed NCT00005106 Phase 4
26 Study to Evaluate the Activity and Tolerability of Lopinavir/Ritonavir and Lamivudine Bitherapy in HIV Patients With Viral Suppression Completed NCT01471821 Phase 4
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
28 Beneficial Effect of Insulin Glulisine by Lipoatrophy and Type 1 Diabetes (LAS) Enrolling by invitation NCT02914886 Phase 4
29 Evaluation of the Occurrence of Lipoatrophy in HIV-1 Infected Naive Patients Terminated NCT00122668 Phase 4
30 Facial Lipoatrophy Trial: Immediate Versus Deferred Injections of Poly-L-Lactic Acid for HIV Facial Lipoatrophy Terminated NCT00126308 Phase 4
31 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
32 Switching From Efavirenz to Atazanavir/ Ritonavir in HIV-infected Subjects With Good Virologic Suppression Terminated NCT01194856 Phase 4
33 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
34 The First Failure Study Terminated NCT01118871 Phase 4
35 Clinical Trial to Determine the Efficacy of Sculptra™ Dermal Filler for the Correction of Contour Deformities Caused by Lipoatrophy Withdrawn NCT00360139 Phase 4
36 Novel Therapies for Metabolic Complications of Lipodystrophies Unknown status NCT00457938 Phase 2, Phase 3
37 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
38 Exercise for Patients With HIV Infections Unknown status NCT00910936 Phase 2, Phase 3
39 The Use of Nutropin Depot in HIV-Infected Adult Males Unknown status NCT00286676 Phase 2, Phase 3
40 Trial of Leptin Replacement Therapy in Patients With Lipodystrophy Completed NCT00896298 Phase 2, Phase 3
41 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
42 Polyacrylamide Hydrogel Injection in HIV-related Lipoatrophy Completed NCT01077765 Phase 3
43 TH9507 in Patients With HIV-Associated Lipodystrophy Completed NCT00123253 Phase 3
44 TH9507 Extension Study in Patients With HIV- Associated Lipodystrophy Completed NCT00608023 Phase 3
45 Effects of a Uridine Supplement on HIV Infected Adults With Lipoatrophy Completed NCT00307164 Phase 2, Phase 3
46 Treatment of Abnormal Adipose Tissue Accumulation in HIV Patients Completed NCT00082628 Phase 3
47 Safety and Effectiveness of Fenofibrate and Pravastatin in HIV-Positive Patients With Abnormal Blood Lipids Completed NCT00006412 Phase 3
48 Long Term Treatment Interruptions Completed NCT00433056 Phase 3
49 Nevirapine or Atazanavir/Ritonavir Given With Emtricitabine/Tenofovir in Human Immunodeficiency Virus (HIV)-1-infected Treatment Naive Adults Completed NCT00389207 Phase 3
50 Evaluation of the Activity of a Pharmacological "Anticellulitis" Product vs. a Reference Product on the Market Completed NCT02195297 Phase 3

Search NIH Clinical Center for Lipodystrophy

Cochrane evidence based reviews: lipodystrophy

Genetic Tests for Lipodystrophy

Genetic tests related to Lipodystrophy:

id Genetic test Affiliating Genes
1 Lipodystrophy 29

Anatomical Context for Lipodystrophy

MalaCards organs/tissues related to Lipodystrophy:

39
Adipocyte, Liver, Bone, Skin, Skeletal Muscle, Neutrophil, Brain

Publications for Lipodystrophy

Articles related to Lipodystrophy:

(show top 50) (show all 955)
id Title Authors Year
1
Hepatic Lipodystrophy in Galloway Calves. ( 28055330 )
2017
2
Novel subtype of congenital partial lipodystrophy with mandibular hypoplasia, sensorineural deafness and short stature of unknown genetic origin. ( 28054466 )
2017
3
Extracellular matrix remodeling and transforming growth factor-I^ signaling abnormalities induced by lamin A/C variants that cause lipodystrophy. ( 27845687 )
2017
4
Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy. ( 27862896 )
2017
5
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation. ( 28050599 )
2017
6
Adipocyte and epidermal fatty acid-binding protein serum concentrations in patients with lipodystrophy. ( 28088613 )
2017
7
People living with HIV on ART have accurate perception of lipodystrophy signs: a cross-sectional study. ( 28086977 )
2017
8
Lack of AKT in adipocytes causes severe lipodystrophy. ( 27408773 )
2016
9
Lipodystrophy in Insulin-Treated Subjects and Other Injection-Site Skin Reactions: Are We Sure Everything is Clear? ( 27456528 )
2016
10
A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene. ( 26922292 )
2016
11
Lipodystrophy Syndromes. ( 27823605 )
2016
12
Progranulin is increased in human and murine lipodystrophy. ( 27497155 )
2016
13
Conjugated Linoleic acid Isomers exert differential effects on an Adipocyte model of HIV-associated Lipodystrophy. ( 27924729 )
2016
14
A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N). ( 26775134 )
2016
15
Adipocyte-specific disruption of mouse Cnot3 causes lipodystrophy. ( 28032897 )
2016
16
LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A. ( 27841971 )
2016
17
Clinical Utility Gene Card for: Familial partial lipodystrophy. ( 27485410 )
2016
18
Lipodystrophy, Diabetes and Normal Serum Insulin in PPARI^-Deficient Neonatal Mice. ( 27505464 )
2016
19
Cover Image: Acquired generalized lipodystrophy in a patient with systemic lupus erythematosus. ( 27484277 )
2016
20
Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy. ( 26985241 )
2016
21
Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -I^ (PPARG) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutations. ( 26756202 )
2016
22
Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4. ( 27167729 )
2016
23
Cardiac Manifestations of Congenital Generalized Lipodystrophy. ( 27766009 )
2016
24
Effect of Leptin Administration on Circulating Apolipoprotein CIII levels in Patients With Lipodystrophy. ( 26900642 )
2016
25
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. ( 27632409 )
2016
26
Conversations between insulin and bone: Potential mechanism of high bone density in patients with Berardinelli-Seip Congenital Lipodystrophy. ( 27876139 )
2016
27
Pseudoacromegaly in congenital generalised lipodystrophy (Berardinelli-Seip syndrome). ( 27068725 )
2016
28
Relationship Between Adiposity Indices, Lipodystrophy, and Sarcopenia in HIV-Positive Individuals With and Without Lipodystrophy. ( 27439325 )
2016
29
Lipodystrophy and severe metabolic dysfunction in mice with adipose tissue-specific insulin receptor ablation. ( 27408774 )
2016
30
Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy. ( 27376152 )
2016
31
Adipocyte (Pro)Renin-Receptor Deficiency Induces Lipodystrophy, Liver Steatosis and Increases Blood Pressure in Male Mice. ( 27185751 )
2016
32
Serum concentrations of fibroblast growth factor 21 are elevated in patients with congenital or acquired lipodystrophy. ( 27179139 )
2016
33
Successful treatment with anti-TNF-alpha antibody for localised lipodystrophy. ( 27033010 )
2016
34
Successful cardiac transplantation in a patient with congenital generalized lipodystrophy. ( 26821845 )
2016
35
Familial partial lipodystrophy presenting as metabolic syndrome. ( 27919367 )
2016
36
Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient. ( 27452399 )
2016
37
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study from Turkey. ( 27144933 )
2016
38
Type 1 familial partial lipodystrophy: understanding the KAPbberling syndrome. ( 27473102 )
2016
39
Pioglitazone therapy for HIV/HAART-associated lipodystrophy syndrome could increase subcutaneous fat mass in non-lipoatrophic but not in lipoatrophic regions. ( 26917795 )
2016
40
Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy. ( 27717241 )
2016
41
A Case of Familial Partial Lipodystrophy: From Clinical Phenotype to Genetics. ( 27026223 )
2016
42
Clinical and mutational features of three Chinese children with congenital generalized lipodystrophy. ( 27612026 )
2016
43
Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy. ( 27189019 )
2016
44
JCL roundtable: Diagnosis and clinical management of lipodystrophy. ( 27578101 )
2016
45
Barraquer-Simons syndrome: a rare form of acquired lipodystrophy. ( 26987365 )
2016
46
LMNA mutations resulting in lipodystrophy and HIV protease inhibitors trigger vascular smooth muscle cell senescence and calcification: Role of ZMPSTE24 downregulation. ( 26724531 )
2016
47
Maladaptative autophagy impairs adipose function in Congenital Generalized Lipodystrophy due to cavin-1 deficiency. ( 27144934 )
2016
48
Lipodystrophy Due to Adipose Tissue Specific Insulin Receptor Knockout Results in Progressive NAFLD. ( 27207510 )
2016
49
Expression of FBN1 during adipogenesis: Relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions. ( 27386756 )
2016
50
Efficacy and Safety of Metreleptin in Patients with Partial Lipodystrophy: Lessons from an Expanded Access Program. ( 27642538 )
2016

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)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 ADIPOQ AGPAT2 LEP LPIN1 PPARG
2
Show member pathways
12.63 ADIPOQ AKT2 INS LEP RETN
3 12.28 CAV1 CAVIN1 EMD LMNA LMNB2
4
Show member pathways
12.15 ADIPOQ AKT2 INS LEP LIPE PPARG
5
Show member pathways
12.03 AKT2 INS LEP LIPE
6 11.97 ADIPOQ AGPAT2 AKT2 INS LIPE LPIN1
7
Show member pathways
11.94 ADIPOQ AKT2 INS PPARG
8 11.6 ADIPOQ INS LEP PPARG
9 11.58 INS LPIN1 PPARG
10 11.54 ADIPOQ AKT2 LEP
11 11.48 ADIPOQ AGPAT2 BSCL2 INS LEP LIPE
12 11.42 AKT2 INS LIPE
13 11.35 CAV1 INS LEP
14 11.24 AKT2 CAV1 INS
15 10.94 ADIPOQ LEP PPARG
16 10.8 ADIPOQ LEP LPIN1 PPARG

GO Terms for Lipodystrophy

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

id Name GO ID Score Top Affiliating Genes
1 caveola GO:0005901 9.5 CAV1 CAVIN1 LIPE
2 nuclear envelope GO:0005635 9.46 EMD LMNA LMNB2 LPIN1
3 nuclear inner membrane GO:0005637 9.43 EMD LMNB2 ZMPSTE24
4 endoplasmic reticulum GO:0005783 9.23 ADIPOQ AGPAT2 BSCL2 CAV1 CAVIN1 EMD
5 lamin filament GO:0005638 8.96 LMNA LMNB2

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

(show all 25)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.8 AGPAT2 BSCL2 LEP LIPE LPIN1 PPARG
2 response to nutrient GO:0007584 9.72 ADIPOQ LEP PPARG
3 positive regulation of protein kinase B signaling GO:0051897 9.71 IL18 INS LEP
4 fat cell differentiation GO:0045444 9.69 AKT2 BSCL2 RETN
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.65 IL18 INS LEP
6 negative regulation of lipid catabolic process GO:0050995 9.62 BSCL2 INS
7 positive regulation of cellular protein metabolic process GO:0032270 9.62 ADIPOQ INS
8 positive regulation of cell motility GO:2000147 9.61 AKT2 CAVIN1
9 regulation of fat cell differentiation GO:0045598 9.61 LEP PPARG
10 positive regulation of glycogen biosynthetic process GO:0045725 9.6 AKT2 INS
11 fatty acid oxidation GO:0019395 9.59 ADIPOQ PPARG
12 fatty acid catabolic process GO:0009062 9.58 LEP LPIN1
13 negative regulation of gluconeogenesis GO:0045721 9.58 ADIPOQ INS
14 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.57 ADIPOQ PPARG
15 positive regulation of insulin receptor signaling pathway GO:0046628 9.56 INS LEP
16 mitotic nuclear envelope disassembly GO:0007077 9.54 EMD LMNA LPIN1
17 mitotic nuclear envelope reassembly GO:0007084 9.52 EMD LMNA
18 negative regulation of acute inflammatory response GO:0002674 9.49 INS PPARG
19 cellular response to hyperoxia GO:0071455 9.46 CAV1 PPARG
20 glucose homeostasis GO:0042593 9.46 ADIPOQ INS LEP PPARG
21 regulation of protein localization to nucleus GO:1900180 9.43 LEP LMNA
22 positive regulation of glucose import GO:0046326 9.43 ADIPOQ AKT2 INS
23 negative regulation of feeding behavior GO:2000252 9.4 INS RETN
24 cellular response to insulin stimulus GO:0032869 9.26 ADIPOQ AKT2 LPIN1 PPARG
25 glucose metabolic process GO:0006006 8.92 ADIPOQ AKT2 INS LEP

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

id Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.02 ADIPOQ FBN1 INS LEP RETN

Sources for 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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