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MCID: LPD008
MIFTS: 65

Lipid Metabolism Disorder

Categories: Endocrine diseases, Genetic diseases, Immune diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Lipid Metabolism Disorder

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MalaCards integrated aliases for Lipid Metabolism Disorder:

Name: Lipid Metabolism Disorder 11 14
Dyslipidemia 11 53 14
Disorder of Fatty Acid Metabolism 28 71
Lipid Metabolism Disorders 41 71
Congenital Disorders of Lipid Metabolism 33
Inherited Disorders of Lipid Metabolism 33
Abnormality of Lipid Metabolism 5
Lipid Metabolism, Inborn Errors 43
Fatty Acid Metabolism Disorder 11
Fatty-Acid Metabolism Disorder 75
Disorders of Lipid Metabolism 33
Disorder of Lipid Metabolism 58
Dyslipidemias 71

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases Genetic diseases
Anatomical: Endocrine diseases Neuronal diseases Immune diseases Liver diseases
See all MalaCards categories (disease lists)
ICD10: 31
ICD11: 33
Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 11 DOID:3146
MeSH 43 D008052
ICD10 31 E71.3
UMLS via Orphanet 72 C0154251
Orphanet 58 ORPHA309005
UMLS 71 C0023772 C0154251 C0242339 more
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Summaries for Lipid Metabolism Disorder

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MedlinePlus: 41 Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process. Lipid metabolism disorders, such as Gaucher disease and Tay-Sachs disease, involve lipids. Lipids are fats or fat-like substances. They include oils, fatty acids, waxes, and cholesterol. If you have one of these disorders, you may not have enough enzymes to break down lipids. Or the enzymes may not work properly and your body can't convert the fats into energy. They cause a harmful amount of lipids to build up in your body. Over time, that can damage your cells and tissues, especially in the brain, peripheral nervous system, liver, spleen, and bone marrow. Many of these disorders can be very serious, or sometimes even fatal. These disorders are inherited. Newborn babies get screened for some of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder. Enzyme replacement therapies can help with a few of these disorders. For others, there is no treatment. Medicines, blood transfusions, and other procedures may help with complications.

MalaCards based summary: Lipid Metabolism Disorder, also known as dyslipidemia, is related to hyperlipoproteinemia, type iii and hypobetalipoproteinemia, familial, 1. An important gene associated with Lipid Metabolism Disorder is LIPC (Lipase C, Hepatic Type), and among its related pathways/superpathways are Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Empagliflozin and Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include liver, bone marrow and spleen, and related phenotypes are Increased free cholesterol and Increased LDL uptake

Disease Ontology: 11 An inherited metabolic disorder that involves the creation and degradation of lipids.

Wikipedia: 75 A broad classification for genetic disorders that result from an inability of the body to produce or... more...
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Related Diseases for Lipid Metabolism Disorder

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Diseases related to Lipid Metabolism Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 802)
# Related Disease Score Top Affiliating Genes
1 hyperlipoproteinemia, type iii 33.0 LPL LIPC LDLR HMGCR CETP APOE
2 hypobetalipoproteinemia, familial, 1 32.8 LPL LDLR FADS1 CETP APOE APOC3
3 hypolipoproteinemia 32.7 LPL CETP APOE APOC3 APOB APOA5
4 hyperalphalipoproteinemia 1 32.7 LPL LIPC LDLR CETP APOE APOC3
5 prediabetes syndrome 32.7 PPARG LPL LIPC LEP INS CRP
6 hypobetalipoproteinemia, familial, 2 32.6 LPL APOC3 APOB APOA1
7 lipodystrophy, familial partial, type 2 32.6 PPARG LEP INS ADIPOQ
8 hyperlipoproteinemia, type iv 32.6 LPL CETP APOE APOC3 APOB APOA5
9 hypertriglyceridemia 1 32.6 LPL LIPC INS CETP APOE APOC3
10 lipodystrophy, familial partial, type 3 32.6 PPARG LEP INS
11 familial lipoprotein lipase deficiency 32.5 LPL LIPC APOE APOC3 APOB APOA5
12 abdominal obesity-metabolic syndrome quantitative trait locus 2 32.4 PPARG PPARA LEP INS CRP APOB
13 hyperlipoproteinemia, type v 32.4 LPL INS HMGCR FADS1 APOE APOC3
14 atherosclerosis susceptibility 32.3 PPARG PPARA LPL LIPC LEP LDLR
15 cardiovascular system disease 32.3 PPARG PPARA LPL LIPC LEP LDLR
16 body mass index quantitative trait locus 11 32.2 PPARG PPARA LPL LIPC LEP INS
17 hypertension, essential 32.2 PPARG PPARA LPL LEP INS HMGCR
18 hyperglycemia 32.1 PPARG LPL LEP INS APOB ADIPOQ
19 vascular disease 31.9 PPARG LPL LIPC LEP LDLR INS
20 heart disease 31.9 PPARG PPARA LPL LIPC LDLR INS
21 hyperinsulinism 31.9 PPARG PPARA LPL LEP INS APOB
22 non-alcoholic fatty liver disease 31.9 PPARG PPARA LPL LEP INS HMGCR
23 type 1 diabetes mellitus 31.8 LPL LEP INS APOE APOB APOA1
24 cerebrovascular disease 31.7 LPL INS HMGCR CRP CETP APOE
25 arteries, anomalies of 31.7 INS CRP APOE APOB APOA1 ADIPOQ
26 myocardial infarction 31.7 PPARG PPARA LPL LIPC LEP LDLR
27 hyperlipidemia, familial combined, 3 31.7 PPARA LPL LIPC LDLR INS HMGCR
28 fatty liver disease 31.6 PPARG PPARA LPL LEP INS CRP
29 nephrotic syndrome 31.6 LPL INS HMGCR CRP CETP APOE
30 sleep apnea 31.5 PPARG LEP INS CRP APOE APOB
31 stroke, ischemic 31.5 LDLR INS HMGCR CRP APOE APOB
32 hypoalphalipoproteinemia, primary, 2 31.5 CETP APOC3 APOB APOA1
33 arteriosclerosis 31.5 PPARG PPARA INS HMGCR CRP APOE
34 adult syndrome 31.5 PPARG PPARA LEP INS CRP ADIPOQ
35 apnea, obstructive sleep 31.5 LEP INS CRP APOE ADIPOQ
36 peripheral vascular disease 31.5 INS HMGCR CRP CETP APOE APOB
37 type 2 diabetes mellitus 31.5 PPARG PPARA LPL LIPC LEP LDLR
38 hyperlipoproteinemia, type i 31.4 LPL LIPC APOE APOC3 APOB APOA5
39 hypercholesterolemia, familial, 1 31.4 LPL LIPC LDLR INS HMGCR CRP
40 gestational diabetes 31.4 PPARG LEP INS CRP APOB ADIPOQ
41 homozygous familial hypercholesterolemia 31.3 LDLR APOB ABCG8 ABCG5
42 acquired immunodeficiency syndrome 31.3 CRP APOE APOB APOA1
43 acute myocardial infarction 31.3 INS HMGCR CRP APOB APOA1
44 hypoalphalipoproteinemia 31.3 PPARA LPL LIPC LDLR CETP APOC3
45 peripheral artery disease 31.2 INS CRP APOE APOB
46 abdominal obesity-metabolic syndrome 1 31.2 PPARG PPARA LPL LEP INS APOB
47 liver disease 31.2 PPARG PPARA LEP INS APOB ADIPOQ
48 sitosterolemia 31.1 HMGCR CETP APOE APOB APOA5 APOA1
49 conn's syndrome 31.1 PPARG LEP INS CRP ADIPOQ
50 schizophrenia 31.1 PPARG PPARA LEP INS CRP APOE

Comorbidity relations with Lipid Metabolism Disorder via Phenotypic Disease Network (PDN):


Hypertension, Essential Intermediate Coronary Syndrome

Graphical network of the top 20 diseases related to Lipid Metabolism Disorder:



Diseases related to Lipid Metabolism Disorder
Sources

Symptoms & Phenotypes for Lipid Metabolism Disorder

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GenomeRNAi Phenotypes related to Lipid Metabolism Disorder according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.19 ABCG5 ABCG8 ACADM ADIPOQ APOA1 APOA5
2 no effect GR00402-S-2 10.19 ABCG5 ABCG8 ADIPOQ APOA1 APOB APOC3
3 Increased free cholesterol GR00340-A-2 9.56 APOA1 APOA5 APOB APOC3 APOE CETP
4 Increased LDL uptake GR00340-A-1 9.16 APOA1 APOE

MGI Mouse Phenotypes related to Lipid Metabolism Disorder:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.35 ABCG5 ABCG8 ACADM ADIPOQ APOA1 APOA5
2 liver/biliary system MP:0005370 10.28 ABCG5 ABCG8 ACADM ADIPOQ APOA1 APOB
3 muscle MP:0005369 10.23 ABCG5 ABCG8 ACADM ADIPOQ APOB APOE
4 growth/size/body region MP:0005378 10.17 ABCG5 ABCG8 ADIPOQ APOB APOC3 APOE
5 cellular MP:0005384 10.1 ABCG5 ABCG8 ADIPOQ APOA1 APOB APOE
6 adipose tissue MP:0005375 10.06 ADIPOQ APOC3 APOE INS LDLR LEP
7 cardiovascular system MP:0005385 10 ABCG5 ABCG8 ACADM ADIPOQ APOA1 APOB
8 immune system MP:0005387 9.73 ABCG5 ABCG8 ADIPOQ APOB APOE CRP
9 integument MP:0010771 9.32 ACADM ADIPOQ APOA1 APOE INS LDLR
Sources

Drugs & Therapeutics for Lipid Metabolism Disorder

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Drugs for Lipid Metabolism Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 320)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Empagliflozin Approved Phase 4 864070-44-0 73151030 11949646
2
Tocopherol Approved, Investigational Phase 4 1406-66-2
3
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
4
Pravastatin Approved Phase 4 81093-37-0 54687
5
Rosiglitazone Approved, Investigational Phase 4 122320-73-4, 155141-29-0 77999
6
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
7
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
8
Nevirapine Approved Phase 4 129618-40-2 4463
9 Coconut Approved Phase 4
10
Losartan Approved Phase 4 114798-26-4 3961
11
Dapagliflozin Approved Phase 4 461432-26-8 9887712
12
Olmesartan Approved, Investigational Phase 4 144689-63-4, 144689-24-7 158781 130881
13 Orange Approved Phase 4
14
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
15
Acetylsalicylic acid Approved, Vet_approved Phase 4 50-78-2 2244
16
Bilberry Approved, Experimental Phase 4
17
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
18
Candesartan cilexetil Approved Phase 4 145040-37-5
19
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
20
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030
21
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
22
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
23
Lopinavir Approved Phase 4 192725-17-0 92727
24
Ciprofibrate Approved, Investigational Phase 4 52214-84-3 2763
25
Mecobalamin Approved, Investigational Phase 4 13422-55-4
26
Hydroxocobalamin Approved Phase 4 13422-51-0 15589840 44475014
27
Deoxycholic acid Approved Phase 4 83-44-3 222528
28
Levoleucovorin Approved, Experimental, Investigational Phase 4 68538-85-2, 58-05-9, 73951-54-9 149436 6006
29
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
30
Zidovudine Approved Phase 4 30516-87-1 35370
31
Calcium polycarbophil Approved Phase 4 126040-58-2
32
Pitavastatin Approved Phase 4 147511-69-1 5282452
33 English walnut Approved Phase 4
34
Fenofibric acid Approved Phase 4 42017-89-0 64929
35
Fenofibrate Approved Phase 4 49562-28-9 3339
36
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
37
Evolocumab Approved Phase 4 1256937-27-5
38
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 4 59-02-9, 10191-41-0 2116 14985
39
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 24892734 16212801 44176380
40
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
41
Choline Approved, Nutraceutical Phase 4 62-49-7 305
42
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
43
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
44
Tocotrienol Investigational Phase 4 6829-55-6 9929901
45
Candesartan Experimental Phase 4 139481-59-7 2541
46
Cobalamin Experimental Phase 4 13408-78-1 6857388
47 Sodium-Glucose Transporter 2 Inhibitors Phase 4
48 Tocotrienols Phase 4
49 Tocopherols Phase 4
50 Dopamine agonists Phase 4

Interventional clinical trials:

(show top 50) (show all 1013)
# Name Status NCT ID Phase Drugs
1 Study on the Efficacy aNd Safety of Jinlida Granules in Patients With Inadequately cOntrolled tYpe-2 Diabetes and dysLIpidemia Under liFe Style Intervention (ENJOY LIFE Study) Unknown status NCT02035644 Phase 4 Jinlida granules;placebo granules
2 An Open-Label Extension of a Randomized, Double-Blind, Placebo-Controlled, Crossover Study to Evaluate Simvastatin 20 mg Plus Omacor 4g Compared to Simvastatin 20 mg Plus Placebo in Subjects With Mixed Dyslipidemia Unknown status NCT00678743 Phase 4 Omacor + simvastatin
3 Reversal of Antipsychotic-Induced Hyperprolactinemia, Weight Gain, Hyperglycemia and Dyslipidemia by Aripiprazole Add-on Therapy in the Treatment of Schizophrenia and Bipolar Disorder: An Open-Label Trial Unknown status NCT00541554 Phase 4 Abilify (aripiprazole)
4 A Multi-center, Randomized, Parallel Phase IV Clinical Trial to Evaluate the Efficacy and Safety of Triple Therapy of Telmisartan/Amlodipine/Rosuvastatin in Patients With Dyslipidemia and Hypertension Unknown status NCT03860220 Phase 4 NEWSTATIN TS;CADUET
5 Safety and Efficacy of Statins for Chinese Patients With Dyslipidemia: A Network Register-based Follow-up Study Unknown status NCT03418974 Phase 4 Pitavastatin;Atorvastatin;Rosuvastatin
6 Effects of Nicotinic Acid Plus Simvastatin Versus Simvastatin Alone on Carotid and Femoral Intima-Media Thickness in Patients With Peripheral Artery Disease (NASCIT)-A Randomized Controlled Trial Unknown status NCT00712049 Phase 4 simvastatin;Nicotinic Acid
7 An Open-label, Randomized, Multi-centre, Phase IVb, Parallel Study Group to Compare the Efficacy and Safety of 5 mg and 10 mg Rosuvastatin Unknown status NCT01613729 Phase 4 Rosuvastatin 5 mg;Rosuvastatin 10 mg
8 Comparison of High-Dose Rosuvastatin Versus Low Statin Dose Plus Fenofibrate Versus Low Statin Dose Plus Niacin in the Treatment of Mixed Hyperlipidemia Unknown status NCT01010516 Phase 4 High-dose rosuvastatin;Statin plus fenofibrate;Statin plus niacin ER/laropiprant
9 EXpanded Combination of Evolocumab Plus Empagliflozin on Diabetes: EXCEED-BHS3 Trial Unknown status NCT03932721 Phase 4 Evolocumab 140 MG/ML
10 A Multi-center, Randomized, Double-blind, Parallel Phase â…£ Study to Explore the Efficacy of Statin/Choline Fenofibrate Combination Therapy vs Statin Monotherapy in Patients With Inadequately Controlled TG Despite Receiving Statin Monotherapy Unknown status NCT03874260 Phase 4 Fenofibrate
11 A Multi-center, Open-label, Randomized, 12-month, Parallel-group, Non-inferiority Study to Compare the Hemoglobin A1C Metabolism of Pitavastatin Therapy Versus Atorvastatin in Chinese Patients With Prediabetes and Hypertension Unknown status NCT03532620 Phase 4 Pitavastatin Calcium;Atorvastatin Calcium
12 An Randomized Open Label Trial on the Impact of 24 Weeks of Atorvastatin Therapy on Liver Fat Content and Abdominal Fat Content in Patients With Type 2 Diabetes Combined With High LDL-C and Non-alcoholic Fatty Liver Disease Unknown status NCT01720719 Phase 4 atorvastatin;Vitamin E
13 A RANDOMIZED, DOUBLE-BLIND, ACTIVE CONTROLLED, PARALLEL GROUP STUDY OF PITAVASTATIN 4 MG VS. PRAVASTATIN 40 MG IN PATIENTS WITH PRIMARY HYPERLIPIDEMIA OR MIXED DYSLIPIDEMIA Completed NCT01256476 Phase 4 pitavastatin;pravastatin
14 A Single-Arm, Open-Label, Multicenter Study Evaluating the Triglyceride Changes in Subjects With Type 2 Diabetes Mellitus and Dyslipidemia Following Treatment Conversion From Rosiglitazone to Pioglitazone HCl in Combination With Stable Statin Therapy Completed NCT00672919 Phase 4 Pioglitazone
15 Open Label Study Evaluating The Use Of Combination Therapy Of Ezetimibe And Statins In Patients With Dyslipidemia In Colombia Completed NCT00651963 Phase 4 ezetimibe
16 Comparison of Pitavastatin With Atorvastatin in Increasing HDL-C and Adiponectin in Patients With Dyslipidemia and Coronary Artery Disease. Completed NCT00861861 Phase 4 Pitavastatin;Atorvastatin
17 Efavirenz to Nevirapine Switch in HIV-1 Infected Patients With Severe Dyslipidemia: A Randomized Controlled Study Completed NCT00405171 Phase 4 Nevirapine
18 Effect of Virgin Coconut Oil (VCO) on Cardiometabolic Parameters in Patients With Dyslipidemia: A Randomized, add-on, Placebo-controlled Clinical Trial Completed NCT03906539 Phase 4 Atorvastatin 10mg
19 Efficacy of Atorvastatin Versus Rosuvastatin on LV Function and Inflammatory Biomarkers in Type 2 Diabetic Patients With Dyslipidemia Completed NCT03784703 Phase 4 Atorvastatin 40 Mg Oral Tablet;Rosuvastatin 10 Mg Oral Tablet
20 A Randomized, Open-Label, Parallel Group Study to Evaluate the Efficacy and Safety of Alirocumab Versus Usual Care in Patients With Type 2 Diabetes and Mixed Dyslipidemia at High Cardiovascular Risk With Non-HDL-C Not Adequately Controlled With Maximally Tolerated Statin Therapy Completed NCT02642159 Phase 4 Alirocumab;Statins;Ezetimibe;Fenofibrate;Nicotinic acid;Omega-3 fatty acids;Antihyperglycemic Drug
21 A Phase IV, Randomized, Open-label, Parallel-arm, Comparative and Forced- Titration Study to Compare the Efficacy and Safety of Rosuvastatin Versus Simvastatin in Patients With Type 2 DM and Dyslipidemia Completed NCT00506961 Phase 4 Rosuvastatin;Simvastatin
22 A Randomized, Double-blind, Placebo-controlled, Parallel-group, Study Evaluating the Efficacy, Safety, and Duration of Erection of Flexible-dose Vardenafil Administered for 12 Weeks Compared to Placebo in Subjects With Erectile Dysfunction and Dyslipidemia. Completed NCT00663845 Phase 4 Levitra (Vardenafil, BAY38-9456);Placebo
23 Begin With The Right Patients With Dual-Inhibition Action Therapy Through Vytorin for Newly Diagnosed Dyslipidemia Patients Completed NCT00654628 Phase 4 ezetimibe (+) simvastatin
24 Dapagliflozin on Cholesterol Metabolism in DM2: Dissecting Its Effect on Dyslipidemia by Using Stable Isotope Based Cholesterol and Glucose Fluxes Completed NCT03074630 Phase 4 Dapagliflozin;Rosuvastatin
25 A Multicenter, Pragmatic Randomized, Double-blind, Placebo-controlled Trial of Xuezhikang Capsule for Treating Dyslipidemia: a Postmarketing Study Completed NCT02057302 Phase 4 Xuezhikang capsule
26 A Randomized, Double-blind, Placebo-controlled, Parallel-group, Study Evaluating the Efficacy, Safety, and Duration of Erection of Flexible-dose Vardenafil Administered for 12 Weeks Compared to Placebo in Subjects With Erectile Dysfunction and Dyslipidemia Completed NCT00379756 Phase 4 LEVITRA (vardenafil);placebo
27 Effects of Pitavastatin on Lipid Profiles in HIV-infected Patients With Dyslipidemia and Receiving Atazanavir/Ritonavir: A Randomized, Double-blind, Crossover Study Completed NCT02442700 Phase 4 pitavastatin;placebo
28 Efficacy and Safety of Extended Release Niacin-Fenofibrate Combination and Monotherapy for the Treatment of Atherogenic Dyslipidemia in Obese Females Completed NCT03615534 Phase 4 Fenofibrate
29 Extended-Release Niacin/Lovastatin Versus Usual Care for Treatment of Dyslipidemia in a Primary Care Setting (EXTEND Study) Completed NCT00345657 Phase 4 Niacin Extended Release/Lovastatin
30 Study of Niacin and Rosiglitazone in Dysmetabolic Dyslipidemia Completed NCT00304993 Phase 4 fenofibrate;niacin;rosiglitazone
31 A Randomized, Open, Parallel, Multicenter, Phase 4 Study to Evaluate the Central Aortic Pressure Effect Between Fixed Dose Combination (Duowell® Tab) and Monotherapy of Telmisartan in Mild Dyslipidemia Patients With Hypertension Completed NCT03267329 Phase 4 Duowell®;Telmisartan
32 Open-label, Randomized, Single Center, Paralleled Clinical Study to Evaluate Adherence Improvement Fixed-dose Combination of Olostar Tab. in Patients With Hypertension and Dyslipidemia Completed NCT04061824 Phase 4 Olostar Tab (olmesartan/rosuvastatin FDC(fixed dose combination));Two separated drugs(ARB(Angiotensin â…¡ receptor blocker) and statin)
33 Randomized, Multicenter, Parallel, Open, Phase 4 Study to Compare the Efficacy and Safety of Rosuvastatin/Amlodipine Combination Therapy Versus Atorvastatin/Amlodipine Combination Therapy in Hypertension Patient With Dyslipidemia Completed NCT03951207 Phase 4 Rosuampin 10/5mg;Rosuampin 20/5mg;Amlodipine/Atorvastatin 5/20mg
34 A 12-Week, Double-Blind, Randomized, Placebo-Controlled Study to Assess the LDL Cholesterol Lowering and Anti-Hyperglycemic Efficacy of Welchol® (Colesevelam) in Subjects With Impaired Fasting Glucose Who Are Taking Niaspan® (Niacin) for Dyslipidemia Completed NCT01239004 Phase 4 Placebo;Colesevelam
35 Prospective, Randomised, Crossover, Double-Blind, Placebo-Controlled Trial To Assess The Lipid-Lowering Effect Of Adding Tenofovir/Emtricitabine Co-Formulation Vs Placebo To Hiv-1-Infected Subjects With Dyslipidemia And Sustained Viral Load Suppression Under Monotherapy With Ritonavir-Boosted Protease Inhibitors Completed NCT01458977 Phase 4 Truvada® (300 mg tenofovir disoproxil fumarato/200 mg emtricitabine);Placebo
36 Metformin for Treatment of Antipsychotic-induced Dyslipidemia: a Randomized, Double-blind Study Completed NCT01778244 Phase 4 metformin
37 Neointimal Coverage After Implantation of Biolimus Eluting Stent With Biodegradable Polymer: Optical Coherence Tomographic Assessment According to the Treatment of Dyslipidemia and Hypertension and the Types of Implanted Drug-eluting Stents Completed NCT01502904 Phase 4 pravastatin 20mg/day after DES implantation;pitavastatin 2mg/day after DES implantation;Non-ARB /day after DES implantation;Eposartan 600mg/day after DES implantation
38 A 12-Week, Randomized, Double-Blind, Active-Controlled, Parallel-Group Study Comparing Pitavastatin 4 mg vs. Pravastatin 40 mg in HIV-Infected Subjects With Dyslipidemia, Followed by a 40-Week Safety Extension Study Completed NCT01301066 Phase 4 Pitavastatin;Pravastatin
39 A 12-week, Multicenter, Double-blind, Double-dummy, Randomized, Active-controlled, Parallel-group Study to Assess the Efficacy and Safety of Fluvastatin Sodium Extended Release Tablets 80 mg Once Daily Compared to Fluvastatin Sodium Immediate Release Capsules 40 mg Twice Daily (BID) in Chinese Patients With Primary Hypercholesterolemia or Mixed Dyslipidemia at Moderate or High Cardiovascular Risk Who Did Not Achieve Their Lipid Goals When Treated With Fluvastatin Sodium Immediate Release Capsules 40 mg QD Completed NCT01551173 Phase 4 Fluvastatin sodium
40 Effect of Plant Sterols Esterified to Fish Oil Fatty Acids on Plasma Lipid Levels in Healthy, Hyperlipidemic Subjects Completed NCT00441480 Phase 4
41 A 6-Week, Prospective, Randomized, Double-Blind, Double-Dummy Phase IV Clinical Trial Designed to Evaluate the Efficacy of an Aggressive Multi-Risk Factor Management Strategy With Caduet (A3841045) Versus a Guideline-Based Approach in Achieving Blood Pressure and Lipid Goals in Hypertensive Subjects With Additional Risk Factors. Completed NCT00412113 Phase 4 Amlodipine besylate;Amlodipine besylate/atorvastatin calcium single pill combination
42 Comparison of the Effect Noted in The Apo/Apo-1 Ratio Using Rosuvastatin and Atorvastatin in Patients With acUte Coronary Syndrome CENTAURUS Study Completed NCT00665834 Phase 4 rosuvastatin;placebo;atorvastatin
43 An Outcome Research on the Impact of a Disease Management Program (COACH) on the Attainment of Better Cardiovascular Risk Control in Dyslipidemic Patients at Primary Care Centers (DISSEMINATE). Completed NCT00708370 Phase 4
44 Effect of Atorvastatin Therapy on Fibrous Cap Thickness in Coronary Atherosclerotic Plaque as Assessed by Optical Coherence Tomography Completed NCT00700037 Phase 4 high-dose atorvastatin;low-dose atorvastatin
45 The Impact of Ezetimibe on Biochemical Markers of Cardiovascular Risk in Kidney Transplant Patients Completed NCT02103049 Phase 4 Ezetimibe
46 ACTFAST (2): Achieve Cholesterol Targets Fast With Atorvastatin Stratified Titration: A Multicenter, Twelve-Week Treatment, Single-Step Titration, Open-Label Study Assessing The Percentage Of Dyslipidemic High-Risk Patients Achieving Low Density Lipoprotein Cholesterol (LDL-C) Target With Atorvastatin Starting Doses Of 10 mg, 20 mg, 40 mg, And 80 mg. Completed NCT00442325 Phase 4 Atorvastatin (Lipitor)
47 Atorvastatin Action on Oxidative Stress and Inflammation in Type II Diabetes: The HDL Particle Protection Study Completed NCT02125682 Phase 4 atovastatin 10 mg/day;Atorvastatin 80 mg/day
48 Effect of Atazanavir on Endothelial Function in HIV-Infected Patients Compared to Standard Proteinase Inhibitors on Top of Potent Antiviral Combination Therapy Completed NCT00447070 Phase 4 ATAZANAVIR
49 A 16-week Multicenter, 2-period Study to Investigate the Effect of the Combination of Fluvastatin ER 80mg and Fenofibrate 200mg on HDL-C in Comparison to the Combination of Simvastatin 20mg and Ezetimibe 10mg in Patients With Metabolic Syndrome Completed NCT00385658 Phase 4 Fluvastatin extended release, fenofibrate;Fixed combination simvastatin/ezetimibe
50 ACTFAST: Achieve Cholesterol Targets Fast With Atorvastatin Stratified Titration. A Multicenter, Twelve-Week Treatment, Single Step Titration, Open-Label Study Assessing The Percentage Of Dyslipidemic High-Risk Patients Achieving Low Density Lipoprotein Cholesterol (LDL-C) Target With Atorvastatin Starting Doses Of 10 Mg, 20 Mg, 40 Mg, And 80 Mg Completed NCT00442845 Phase 4 Atorvastatin (Lipitor)

Search NIH Clinical Center for Lipid Metabolism Disorder

Cochrane evidence based reviews: lipid metabolism, inborn errors

Sources

Genetic Tests for Lipid Metabolism Disorder

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Genetic tests related to Lipid Metabolism Disorder:

# Genetic test Affiliating Genes
1 Disorder of Fatty Acid Metabolism 28
Sources

Anatomical Context for Lipid Metabolism Disorder

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Organs/tissues related to Lipid Metabolism Disorder:

MalaCards : Liver, Bone Marrow, Spleen, Heart, Skeletal Muscle, Endothelial, Bone
Sources

Publications for Lipid Metabolism Disorder

About this section

Articles related to Lipid Metabolism Disorder:

(show top 50) (show all 31954)
# Title Authors PMID Year
1
Fatty Pancreas and Cardiometabolic Risk: Response of Ectopic Fat to Lifestyle and Surgical Interventions. 41
36432559 2022
2
ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency. 41
36292732 2022
3
Integrated Quantitative Targeted Lipidomics and Proteomics Reveal Unique Fingerprints of Multiple Metabolic Conditions. 41
36291648 2022
4
Targeting dyslipidemia in the metabolic syndrome: an update. 53 62
19485929 2010
5
Insulin resistance, dyslipidemia, and metabolic syndrome in women with polycystic ovary syndrome. 53 62
20199774 2010
6
Insulin resistance is associated with C-reactive protein independent of abdominal obesity in nondiabetic Taiwanese. 53 62
20004425 2010
7
Association of low testosterone with metabolic syndrome and its components in middle-aged Japanese men. 53 62
20339372 2010
8
Nuclear receptors as drug targets in cholestasis and drug-induced hepatotoxicity. 53 62
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Sources

Variations for Lipid Metabolism Disorder

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ClinVar genetic disease variations for Lipid Metabolism Disorder:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCG8 NM_022437.3(ABCG8):c.1938_1939delinsT (p.Val647fs) INDEL Pathogenic
 1705270 GRCh37: 2:44104968-44104969
GRCh38: 2:43877829-43877830
2 LIPC NM_000236.3(LIPC):c.1052-1G>C SNV Pathogenic
 1705275 GRCh37: 15:58853062-58853062
GRCh38: 15:58560863-58560863
3 LDLR NM_000527.5(LDLR):c.1338del (p.Ser447fs) DEL Pathogenic
 1705272 GRCh37: 19:11224105-11224105
GRCh38: 19:11113429-11113429
4 ACADM NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) SNV Pathogenic
 3586 rs77931234 GRCh37: 1:76226846-76226846
GRCh38: 1:75761161-75761161
5 LDLR NM_000527.5(LDLR):c.1298A>T (p.Asp433Val) SNV Likely Pathogenic
 1705273 GRCh37: 19:11224065-11224065
GRCh38: 19:11113389-11113389
6 ACADM NM_000016.6(ACADM):c.430A>T (p.Lys144Ter) SNV Likely Pathogenic
 1708368 GRCh37: 1:76200518-76200518
GRCh38: 1:75734833-75734833
7 CETP NM_000078.3(CETP):c.1103del (p.Pro368fs) DEL Likely Pathogenic
 1705271 GRCh37: 16:57012123-57012123
GRCh38: 16:56978211-56978211
8 LIPC NM_000236.3(LIPC):c.748T>C (p.Phe250Leu) SNV Likely Pathogenic
 1705274 GRCh37: 15:58838114-58838114
GRCh38: 15:58545915-58545915
9 APOE NM_000041.4(APOE):c.461G>T (p.Arg154Leu) SNV Likely Pathogenic
 375636 rs200703101 GRCh37: 19:45412014-45412014
GRCh38: 19:44908757-44908757
10 ABCG5 NM_022436.3(ABCG5):c.64C>T (p.Gln22Ter) SNV Likely Pathogenic
 1704642 GRCh37: 2:44065755-44065755
GRCh38: 2:43838616-43838616
Sources

Expression for Lipid Metabolism Disorder

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Search GEO for disease gene expression data for Lipid Metabolism Disorder.
Sources

Pathways for Lipid Metabolism Disorder

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Pathways directly related to Lipid Metabolism Disorder:

# Pathway Source
1 Diseases of mitochondrial beta oxidation Reactome 66
2 Diseases of propionyl-CoA catabolism Reactome 66
3 Defective ABCG5 causes sitosterolemia Reactome 66
4 Defective ABCG8 causes GBD4 and sitosterolemia Reactome 66

Pathways related to Lipid Metabolism Disorder according to GeneCards Suite gene sharing:

(show all 31)
# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.71 ACADM ADIPOQ APOA1 APOA5 APOB APOC3
2
Transport of inorganic cations/anions and amino acids/oligopeptides 66
Show member pathways
 13.31 LPL LIPC LDLR CETP APOE APOC3
3
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 12.74 APOA1 APOB APOC3 APOE LDLR LPL
4
Nuclear receptors meta-pathway 74
Show member pathways
 12.7 PPARA APOC3 APOA5 APOA1 ACADM ABCG8
5
Metabolism of steroids 66
Show member pathways
 12.6 PPARG PPARA LPL LDLR INS HMGCR
6
Visual phototransduction 66
Show member pathways
 12.56 APOA1 APOB APOC3 APOE LDLR LPL
7
Plasma lipoprotein assembly, remodeling, and clearance 66
Show member pathways
 12.45 APOA1 APOA5 APOB APOC3 APOE CETP
8
Glucose / Energy Metabolism 3
12.44 PPARG INS APOE ADIPOQ
9
PPARA activates gene expression 66
Show member pathways
 12.36 ACADM ADIPOQ APOA1 APOA5 FADS1 HMGCR
10
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) 66
Show member pathways
 12.31 APOE APOB APOA5 APOA1
11
AMP-activated protein kinase signaling 74
Show member pathways
 12.08 LEP INS HMGCR ADIPOQ
12
Adipogenesis 74
12.05 PPARG PPARA LPL LEP INS ADIPOQ
13
NR1H2 and NR1H3-mediated signaling 66
Show member pathways
 11.98 CETP APOE ABCG8 ABCG5
14
Mesenchymal Stem Cells and Lineage-specific Markers 65
11.85 ADIPOQ INS LEP LPL PPARG
15
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.78 APOE APOB APOA1
16
Familial hyperlipidemia type 1 74
Show member pathways
 11.65 LPL LIPC LDLR CETP APOB APOA5
17
PPAR signaling pathway 74
Show member pathways
 11.5 PPARG PPARA LPL APOC3 APOA5 APOA1
18
Nonalcoholic fatty liver disease 74
11.49 PPARA LEP INS ADIPOQ
19
FOXA2 and FOXA3 transcription factor networks 61
Show member pathways
 11.44 LPL INS APOA1 ACADM
20
Vitamin A and carotenoid metabolism 74
11.43 LPL ABCG8 ABCG5
21
Fatty acid beta-oxidation 74
Show member pathways
 11.41 LPL LIPC ACADM
22
Nuclear receptors in lipid metabolism and toxicity 74
11.34 PPARG PPARA ABCG5
23
Statin inhibition of cholesterol production 74
Show member pathways
 11.28 LPL LIPC LDLR HMGCR CETP APOE
24
Familial partial lipodystrophy 74
11.2 PPARG PPARA LPL
25
PPAR-alpha pathway 74
11.18 PPARA APOC3 APOA5 APOA1 ACADM
26
Differentiation of white and brown adipocyte 74
11.17 PPARG LEP ADIPOQ
27
Transcription factor regulation in adipogenesis 74
11.1 PPARG LEP ADIPOQ
28
Cholestasis 74
11.01 LDLR ABCG8 ABCG5
29
SREBF and miR33 in cholesterol and lipid homeostasis 74
10.95 PPARA LDLR HMGCR
30
Bile acids synthesis and enterohepatic circulation 74
10.79 LDLR ABCG8 ABCG5
31
Defective ABCG8 causes GBD4 and sitosterolemia 66
Show member pathways
 10.24 ABCG8 ABCG5
Sources

GO Terms for Lipid Metabolism Disorder

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Cellular components related to Lipid Metabolism Disorder according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.56 LPL LIPC LEP INS CRP CETP
2 extracellular space GO:0005615 10.45 ADIPOQ APOA1 APOA5 APOB APOC3 APOE
3 endoplasmic reticulum lumen GO:0005788 10.23 APOA1 APOA5 APOB APOE INS LIPC
4 early endosome GO:0005769 10.21 LDLR APOE APOC3 APOB APOA5 APOA1
5 high-density lipoprotein particle GO:0034364 9.93 APOA1 APOA5 APOB APOE CETP LIPC
6 endocytic vesicle lumen GO:0071682 9.88 APOE APOB APOA1
7 spherical high-density lipoprotein particle GO:0034366 9.81 APOC3 APOA1
8 ATP-binding cassette (ABC) transporter complex GO:0043190 9.8 ABCG8 ABCG5
9 intermediate-density lipoprotein particle GO:0034363 9.8 APOE APOC3 APOB
10 low-density lipoprotein particle GO:0034362 9.8 LDLR APOE APOB APOA5
11 very-low-density lipoprotein particle GO:0034361 9.73 LPL APOE APOC3 APOB APOA5 APOA1
12 chylomicron GO:0042627 9.4 LPL APOE APOC3 APOB APOA5 APOA1

Biological processes related to Lipid Metabolism Disorder according to GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of inflammatory response GO:0050728 10.35 ADIPOQ APOA1 APOE PPARA PPARG
2 response to xenobiotic stimulus GO:0009410 10.31 ABCG5 ABCG8 ADIPOQ LPL PPARG
3 glucose homeostasis GO:0042593 10.31 PPARG LEP INS ADIPOQ
4 intermembrane lipid transfer GO:0120009 10.31 CETP APOE APOB APOA1 ABCG8 ABCG5
5 cholesterol metabolic process GO:0008203 10.31 LIPC LEP LDLR HMGCR CETP APOE
6 fatty acid metabolic process GO:0006631 10.27 PPARG PPARA LPL FADS1 ACADM
7 triglyceride metabolic process GO:0006641 10.26 LPL CETP APOE APOC3 APOA5
8 negative regulation of MAP kinase activity GO:0043407 10.25 PPARG HMGCR APOE ADIPOQ
9 lipid metabolic process GO:0006629 10.25 PPARG LPL LIPC LEP LDLR HMGCR
10 response to nutrient GO:0007584 10.24 PPARG LEP ADIPOQ ABCG8 ABCG5
11 positive regulation of cholesterol efflux GO:0010875 10.22 PPARG APOE APOA1 ADIPOQ
12 triglyceride catabolic process GO:0019433 10.22 APOA5 APOB APOC3 LIPC LPL
13 positive regulation of lipid biosynthetic process GO:0046889 10.21 APOA1 APOA5 APOE INS PPARA
14 cholesterol efflux GO:0033344 10.21 ABCG5 ABCG8 APOA1 APOA5 APOB APOC3
15 fatty acid beta-oxidation GO:0006635 10.2 ACADM ADIPOQ LEP
16 cholesterol transport GO:0030301 10.2 APOA1 APOB CETP LDLR LIPC
17 phospholipid transport GO:0015914 10.19 LDLR CETP ABCG8
18 low-density lipoprotein particle remodeling GO:0034374 10.19 APOB APOE CETP LIPC
19 reverse cholesterol transport GO:0043691 10.19 LIPC CETP APOE APOC3 APOA1
20 cholesterol biosynthetic process GO:0006695 10.18 HMGCR APOA5 APOA1
21 phospholipid efflux GO:0033700 10.18 APOE APOC3 APOA5 APOA1
22 high-density lipoprotein particle remodeling GO:0034375 10.18 LIPC CETP APOE APOC3 APOA1
23 lipid catabolic process GO:0016042 10.17 LPL LIPC APOC3 APOB
24 artery morphogenesis GO:0048844 10.17 LDLR APOE APOB
25 phosphatidylcholine metabolic process GO:0046470 10.16 CETP APOA5 APOA1
26 negative regulation of macrophage derived foam cell differentiation GO:0010745 10.16 ADIPOQ CETP CRP PPARA PPARG
27 negative regulation of protein secretion GO:0050709 10.15 INS HMGCR APOE
28 low-density lipoprotein particle clearance GO:0034383 10.14 LDLR APOB ADIPOQ
29 high-density lipoprotein particle assembly GO:0034380 10.14 APOE APOA5 APOA1
30 lipid transport GO:0006869 10.14 LDLR CETP APOE APOC3 APOB APOA5
31 lipid homeostasis GO:0055088 10.13 PPARG CETP APOE
32 intestinal cholesterol absorption GO:0030299 10.13 LDLR ABCG8 ABCG5
33 response to cold GO:0009409 10.12 PPARG LPL ACADM
34 negative regulation of lipid storage GO:0010888 10.12 PPARG LEP CRP
35 regulation of Cdc42 protein signal transduction GO:0032489 10.11 APOE APOC3 APOA1
36 high-density lipoprotein particle clearance GO:0034384 10.11 APOA1 APOE LDLR
37 lipoprotein biosynthetic process GO:0042158 10.1 APOE APOB APOA1
38 regulation of intestinal cholesterol absorption GO:0030300 10.09 APOA1 APOA5 LEP
39 chylomicron remnant clearance GO:0034382 10.09 APOC3 APOE LIPC
40 lipoprotein catabolic process GO:0042159 10.08 APOB APOE LDLR
41 positive regulation of fatty acid metabolic process GO:0045923 10.08 ADIPOQ PPARA PPARG
42 steroid metabolic process GO:0008202 10.04 LDLR HMGCR CETP APOE APOB APOA1
43 positive regulation of CoA-transferase activity GO:1905920 10.03 APOE APOA1
44 negative regulation of appetite GO:0032099 10.03 PPARA LEP
45 positive regulation of cholesterol storage GO:0010886 10.03 LPL APOB
46 very-low-density lipoprotein particle remodeling GO:0034372 10.03 APOA1 APOA5 APOE CETP LIPC LPL
47 cholesterol import GO:0070508 10.02 APOA1 LDLR
48 negative regulation of sequestering of triglyceride GO:0010891 10.02 PPARG PPARA
49 positive regulation of cholesterol metabolic process GO:0090205 10.02 APOE APOA1
50 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 10 APOA1 APOC3

Molecular functions related to Lipid Metabolism Disorder according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 10.16 APOA5 APOB APOE LIPC LPL
2 lipid binding GO:0008289 10.1 PPARA CETP APOE APOC3 APOA5 APOA1
3 phospholipid binding GO:0005543 10.02 APOE APOC3 APOB APOA5 APOA1
4 phosphatidylcholine binding GO:0031210 9.99 CETP APOA5 APOA1
5 cholesterol binding GO:0015485 9.97 APOA1 APOA5 APOC3 CETP
6 low-density lipoprotein particle binding GO:0030169 9.91 LIPC LDLR CRP
7 lipase binding GO:0035473 9.84 APOB APOA5
8 triglyceride binding GO:0017129 9.83 LPL CETP
9 high-density lipoprotein particle receptor binding GO:0070653 9.8 APOC3 APOA1
10 lipid transporter activity GO:0005319 9.78 APOE APOB APOA1
11 low-density lipoprotein particle receptor binding GO:0050750 9.76 APOA5 APOB APOE CRP
12 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.73 APOE APOA5 APOA1
13 lipoprotein particle binding GO:0071813 9.5 LPL LDLR APOE APOA1
14 cholesterol transfer activity GO:0120020 9.4 CETP APOE APOB APOA1 ABCG8 ABCG5
Sources

Sources for Lipid Metabolism Disorder

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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