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MCID: FML035
MIFTS: 55

Familial Hyperlipidemia

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Familial Hyperlipidemia

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MalaCards integrated aliases for Familial Hyperlipidemia:

Name: Familial Hyperlipidemia 12 15 71
Familial Hyperlipoproteinemia 12 74 54 71
Hyperlipoproteinemias 43 71
Hyperlipidaemia 12 15
Hyperlipidemia 17 71
Hyperlipidemias 43
Hyperlipemia 12

Classifications:

MalaCards categories:
Global: Metabolic diseases Genetic diseases Rare diseases
Anatomical: Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:1168
SNOMED-CT 67 3744001 55822004
ICD10 32 E78.5
UMLS 71 C0020473 C0020476 C0694546 more
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Summaries for Familial Hyperlipidemia

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MalaCards based summary : Familial Hyperlipidemia, also known as familial hyperlipoproteinemia, is related to familial apolipoprotein c-ii deficiency and hyperlipoproteinemia, type v. An important gene associated with Familial Hyperlipidemia is PRMT7 (Protein Arginine Methyltransferase 7), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs alemtuzumab and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and endothelial, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 Hyperlipidemia is abnormally elevated levels of any or all lipids or lipoproteins in the blood.... more...

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Related Diseases for Familial Hyperlipidemia

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Diseases in the Rare Hyperlipidemia family:

Familial Hyperlipidemia

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

(show top 50) (show all 736)
# Related Disease Score Top Affiliating Genes
1 familial apolipoprotein c-ii deficiency 33.4 LPL APOC3 APOC2
2 hyperlipoproteinemia, type v 32.8 LPL INS HMGCR APOE APOC3 APOC2
3 familial lipoprotein lipase deficiency 32.7 LPL LIPC APOE APOC3 APOC2 APOB
4 hyperlipoproteinemia, type iii 32.7 LPL LPA LIPC LDLR CETP APOE
5 hyperlipoproteinemia, type i 32.3 LPL LIPC APOE APOC3 APOC2 APOB
6 hyperlipidemia, familial combined, 3 32.2 PPARA PON1 LPL LIPC LDLR LCAT
7 familial hypercholesterolemia 31.9 PON1 LPL LPA LIPC LDLR LCAT
8 fatty liver disease 31.4 PPARA LEP INS APOB
9 hyperglycemia 31.3 SERPINE1 LPL LEP INS APOB
10 hepatic lipase deficiency 31.1 LPL LIPC APOE APOA1
11 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 31.1 LEP INS
12 homozygous familial hypercholesterolemia 31.1 LIPC LDLR HMGCR APOE APOB APOA1
13 homocysteinemia 31.1 SERPINE1 PON1 LPA APOE
14 hyperuricemia 31.1 LEP INS APOE APOB
15 hypoalphalipoproteinemia 31.0 LIPC LCAT APOA1
16 fatty liver disease, nonalcoholic 1 30.8 PRMT7 PPARA LEP INS
17 non-alcoholic steatohepatitis 30.8 SERPINE1 PPARA INS APOE
18 amyloidosis 30.7 LPA INS APOE APOA1
19 hyperalphalipoproteinemia 1 30.7 LPL LIPC LDLR LCAT CETP APOC3
20 hypercholesterolemia, familial, 2 30.7 LDLR APOE APOB
21 xanthoma disseminatum 30.7 APOE APOB
22 xanthomatosis 30.6 LPL LPA LDLR HMGCR APOE APOB
23 vascular dementia 30.6 PON1 APOE APOA1
24 cerebral atherosclerosis 30.6 LPA APOE APOA1
25 diabetic neuropathy 30.6 PON1 LEP INS
26 glucose intolerance 30.6 SERPINE1 LPL LEP INS APOB APOA1
27 intermediate coronary syndrome 30.6 LPA INS COG2 APOB APOA1
28 angina pectoris 30.6 LPA INS APOA1
29 hypothalamic obesity 30.6 LEP INS
30 apolipoprotein c-ii deficiency 30.6 LPL APOC2
31 hyperlipoproteinemia, type iv 30.6 LPL LPA CETP APOE APOC3 APOC2
32 coronary stenosis 30.5 SERPINE1 PON1 LPL CETP APOE APOB
33 sitosterolemia 30.5 LCAT HMGCR APOB APOA1
34 arcus corneae 30.5 LPA LDLR LCAT COG2 APOB APOA1
35 defective apolipoprotein b-100 30.5 LDLR LCAT HMGCR APOE APOB
36 acanthosis nigricans 30.5 PRMT7 LEP INS
37 cholelithiasis 30.5 LEP INS APOE
38 peripheral artery disease 30.5 APOE APOB APOA1
39 abdominal obesity-metabolic syndrome 1 30.5 SERPINE1 PPARA LPL LEP INS APOB
40 sea-blue histiocyte disease 30.5 LCAT APOE
41 lipoprotein glomerulopathy 30.4 LPA LDLR LCAT APOE APOB
42 lipodystrophy, familial partial, type 2 30.4 PPARA LEP INS
43 acute myocardial infarction 30.4 SERPINE1 LPA HMGCR APOB APOA1
44 leptin deficiency or dysfunction 30.4 PPARA LPL LEP INS
45 peripheral vascular disease 30.4 SERPINE1 LPA LCAT INS HMGCR COG2
46 lipid storage disease 30.4 PPARA LEP INS GBA APOB
47 algoneurodystrophy 30.3 LCAT INS
48 sleep apnea 30.3 SERPINE1 LEP INS APOE APOB
49 generalized atherosclerosis 30.3 SERPINE1 LPA INS COG2 APOE APOB
50 diabetes mellitus, type i 30.3 PON1 LPA LEP INS CETP APOB

Graphical network of the top 20 diseases related to Familial Hyperlipidemia:



Diseases related to Familial Hyperlipidemia
Sources

Symptoms & Phenotypes for Familial Hyperlipidemia

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GenomeRNAi Phenotypes related to Familial Hyperlipidemia according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.55 PPARA
2 Decreased viability GR00221-A-2 9.55 PPARA
3 Decreased viability GR00221-A-3 9.55 PPARA
4 Decreased viability GR00221-A-4 9.55 PPARA
5 Decreased viability GR00240-S-1 9.55 PON1
6 Decreased viability GR00249-S 9.55 GBA SERPINE1
7 Decreased viability GR00301-A 9.55 PPARA
8 Decreased viability GR00381-A-1 9.55 PPARA
9 Decreased viability GR00386-A-1 9.55 APOB APOE CETP LPL
10 Decreased viability GR00402-S-2 9.55 GBA LCAT LDLR PRMT7
11 Decreased free cholesterol GR00340-A-2 9.16 LDLR LIPC
12 Decreased LDL uptake GR00340-A-1 8.96 LDLR LPL

MGI Mouse Phenotypes related to Familial Hyperlipidemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.27 APOA1 APOB APOE GBA INS LCAT
2 homeostasis/metabolism MP:0005376 10.25 APOA1 APOB APOC2 APOE COG2 GBA
3 cellular MP:0005384 10.17 APOA1 APOB APOE GBA INS LDLR
4 growth/size/body region MP:0005378 10.15 APOB APOE COG2 GBA HMGCR INS
5 adipose tissue MP:0005375 10.08 APOE INS LDLR LEP LPL PPARA
6 endocrine/exocrine gland MP:0005379 10.06 APOA1 APOE GBA INS LCAT LDLR
7 liver/biliary system MP:0005370 9.97 APOA1 APOB APOE GBA HMGCR INS
8 integument MP:0010771 9.91 APOA1 APOE GBA INS LDLR LEP
9 muscle MP:0005369 9.56 APOB APOE INS LDLR LEP LPL
10 pigmentation MP:0001186 9.02 APOB APOE GBA LDLR LEP
Sources

Drugs & Therapeutics for Familial Hyperlipidemia

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

(show top 50) (show all 507)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 4 216503-57-0
2
Acetaminophen Approved Phase 4 103-90-2 1983
3
Promethazine Approved, Investigational Phase 4 60-87-7 4927
4
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
5
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
6
Amlodipine Approved Phase 4 88150-42-9 2162
7
Atorvastatin Approved Phase 4 134523-00-5 60823
8
Pitavastatin Approved Phase 4 147526-32-7, 147511-69-1 6366718 5282452
9
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
10
Probucol Approved, Investigational Phase 4 23288-49-5 4912
11
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
12
Lopinavir Approved Phase 4 192725-17-0 92727
13
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
14
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 158781 130881
15 Orange Approved Phase 4
16
Colestipol Approved Phase 4 26658-42-4
17
Phylloquinone Approved, Investigational Phase 4 84-80-0
18
Coal tar Approved Phase 4 8007-45-2
19
Darunavir Approved Phase 4 206361-99-1, 635728-49-3 213039
20
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
21
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
22
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 10204 6013
23
Nicotine Approved Phase 4 54-11-5 942 89594
24
Calcium polycarbophil Approved Phase 4 126040-58-2
25
Saxagliptin Approved Phase 4 361442-04-8 11243969
26
Ziprasidone Approved Phase 4 146939-27-7 60854
27
Bexarotene Approved, Investigational Phase 4 153559-49-0 82146
28
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
29
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
30
Abacavir Approved, Investigational Phase 4 136470-78-5 441300 65140
31
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
32
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
33
Ergotamine Approved Phase 4 113-15-5 8223
34
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
35
Propranolol Approved, Investigational Phase 4 525-66-6 4946
36
Nortriptyline Approved Phase 4 72-69-5 4543
37
Cefixime Approved, Investigational Phase 4 79350-37-1 5362065 54362
38
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
39
Metronidazole Approved Phase 4 443-48-1 4173
40
Warfarin Approved Phase 4 81-81-2 6691 54678486
41
Enoxaparin Approved Phase 4 9005-49-6 772
42
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
43
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
44
Lisinopril Approved, Investigational Phase 4 76547-98-3, 83915-83-7 5362119
45
Atenolol Approved Phase 4 29122-68-7 2249
46
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
47
Cefpirome Approved Phase 4 84957-29-9 5479539
48
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
49
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
50
Candesartan cilexetil Approved Phase 4 145040-37-5 2540

Interventional clinical trials:

(show top 50) (show all 1248)
# Name Status NCT ID Phase Drugs
1 Rosuvastatin Effect on Reducing Coronary Atherosclerosis Plaques Volume Evaluated by Multi-slice Spiral CT in Patients With Stable Coronary Heart Disease and Hyperlipidemia Unknown status NCT01382277 Phase 4 Rosuvastatin
2 Coadministration of Ezetimibe With Fenofibrate Versus Pravastatin Monotherapy for the Treatment of Hyperlipidaemia in HIV-infected Patients Receiving Protease Inhibitors: a Randomized, Prospective, Controlled Pilot Study. Unknown status NCT00843661 Phase 4 ezetimibe;fenofibrate;pravastatin
3 Effect of Fenofibrate and Rosuvastatin on Sexual Dysfunction in Hyperlipidemic Patients. A Randomized Trial Unknown status NCT00923676 Phase 4 fenofibrate;Rosuvastatin;fenofibrate + rosuvastatin
4 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
5 Efficacy and Safety of Morning Intake of Simvast Controlled Release (CR) Tablet Versus Evening Intake of Zocor Tablet in Chronic Kidney Disease Stage(CKD)3, 4 and 5 Patients With Hyperlipidemia: A Randomized, Double-blind, Multicenter Phase 4 Trial (HM-SIM4) Unknown status NCT01564875 Phase 4 Simvast CR;Zocor
6 Effects of Dapagliflozin on Hyperlipidemia, Glycemic Control and Insulin Resistance in Type 2 Diabetic Patients (DAPHNIS Study) Unknown status NCT02577159 Phase 4 Dapagliflozin
7 Effect of Rosuvastatin Therapy on HDL2 Level and Antiatherosclerotic Reverse Cholesterol Transport Process in Chinses CAD Patients With Hyperlipidemia Unknown status NCT02593487 Phase 4 Rosuvastatin 10mg/d group;Rosuvastatin 20mg/d group
8 Additive Effects of Nutraceuticals to Non-pharmacologic Intervention to Improve Lipid Profile in the Real World Clinical Practice in European Countries - The PIN (Portugul Italy Nutraceutical) Study Unknown status NCT01649986 Phase 4 Nutraceuticals (Armolipid Plus)
9 A 104-week, Open-label, Single-group Study: Rosuvastatin Evaluation of Atherosclerotic Chinese Patients (REACH) Unknown status NCT00885872 Phase 4 Rosuvastatin (Crestor)
10 Japanese Primary Prevention Project With Aspirin in the Elderly With One or More Risk Factors of Vascular Events: JPPP Unknown status NCT00225849 Phase 4 Aspirin
11 The Effects of OMACOR on the LDL Sub-fraction in Korean Type 2 Diabetic Patients With Combined Hyperlipidemia Unknown status NCT00758927 Phase 4 Omega-3 acid 4 grams per day;Placebo control
12 Comparison of Stenting Versus Best Medical Therapy for Treatment of Ostial Renal Artery Stenosis: a Randomized Controlled Trial in Patients With Advanced Atherosclerosis. Unknown status NCT00711984 Phase 4
13 The Need of Dosing Adjustment for Simvastatin in Obese Patients Post Bariatric Surgery- Laparoscopic Sleeve Gastrectomy (LSG) Unknown status NCT03571802 Phase 4 Simvastatin
14 Effectiveness and Safety of Low-dose vs. High-dose Rosuvastatin on Long-term Cardiovascular Events in Korean Patients After Percutaneous Coronary Intervention: 30-month, Prospective, Single-center, Randomized Trial Unknown status NCT02859480 Phase 4 Rosuvastatin 5mg;Rosuvastatin 20mg
15 The Cook Zilver PTX Drug-eluting Stent Versus Bypass Surgery for the Treatment The Cook Zilver PTX Drug-eluting Stent Versus Bypass Surgery of Femoropopliteal TASC C&D Lesions Unknown status NCT01952457 Phase 4
16 Prospective Trial of Conversion From Tacrolimus to Sirolimus in African American Renal Transplant Recipients With Chronic Allograft Nephropathy Unknown status NCT00999258 Phase 4 sirolimus
17 Randomized, Open Label, Multicenter Study of Belatacept-based Early Steroid Withdrawal Regimen With Alemtuzumab or rATG Induction Compared to Tacrolimus-based Early Steroid Withdrawal Regimen With rATG Induction in Renal Transplantation Unknown status NCT01729494 Phase 4 Alemtuzumab;rabbit antithymocyte globulin;Belatacept;Tacrolimus;Mycophenolate mofetil;early cessation of steroids
18 Comparison of the Efficacy and Safety of Cresnon® and Crestor® in Patients With Hyperlipidemia Completed NCT02280590 Phase 4 Rosuvastatin(Cresnon®);Rosuvastatin(Crestor®)
19 A Multi-Center, Randomized, Open-Label Study To Evaluate Efficacy And Safety Of Dual Therapy With Atorvastatin Plus Amlodipine When Compared Amlodipine Therapy Alone In The Treatment Of Subjects With Concurrent Hyperlipidemia And Hypertension. Completed NCT00174330 Phase 4 atorvastatin;amlodipine
20 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
21 Tolerability and Efficacy of Rosuvastatin - Fenofibrate Combine Therapy in Korean Patients With Combined Hyperlipidemia Completed NCT01414803 Phase 4 Lipid modification;Lipid modification
22 A Randomized, 12-Week, Open Labeled Study To Evaluate The Efficacy And Safety Of Once Daily Atorvastatin In Diabetes Mellitus Type 2 With Hyperlipidemia Completed NCT00645424 Phase 4 atorvastatin;atorvastatin;atorvastatin
23 Effects of Exenatide on Postprandial Hyperlipidemia and Inflammation Completed NCT00974272 Phase 4 Exenatide
24 The Effects of the Combination of Welchol and Tricor Compared to TriCor Alone in Patients With Mixed Hyperlipidemia Completed NCT00754039 Phase 4 colesevelam HCl tablets and fenofibrate tablets;fenofibrate tablets and Welchol placebo tablets;fenofibrate tablets and Welchol placebo tablets
25 A Clinical Trial to Evaluate the Effect of a Shiitake Mushroom Extract Supplement on Lipid Profile, Other Cardiovascular Risk Factors and the Microbiota in Subjects With and Moderate Hyperlipidemia Completed NCT03550287 Phase 4
26 Efficacy Evaluation of Metabolic, Anti-inflammatory, and Antioxidative Factors of Irbesartan/Atorvastatin Fixed-dose Combination in Type 2 Diabetic Patients Diagnosed With Hyperlipidemia and Hypertension, With Adequately Controlled Blood Glucose Levels Completed NCT02842359 Phase 4 Irbesartan/atorvastatin fixed dose combination;Irbesartan SR47436;Atorvastatin
27 Exploratory Study of the Effect of Omega-3-acid Ethyl Esters on Vascular Endothelial Function in Patients With Hyperlipidemia by Flow Mediated Dilation Completed NCT02824432 Phase 4 TAK-085
28 A Double-blind, Double Dummy, Phase IV, Randomized, Multicenter, Parallel Group, Placebo Controlled Trial to Evaluate the Effect of Rosuvastatin on Triglycerides Levels in Mexican Hypertriglyceridemic Patients Completed NCT00473655 Phase 4 rosuvastatin
29 Management of Elevated Cholesterol in the Primary Prevention Group of Adult Japanese(MEGA Study) Completed NCT00211705 Phase 4 Diet+pravastatin
30 A Randomised, Double-Blind Study of Pravastatin for the Treatment of Hyperlipidaemia in Patients With HIV Completed NCT00227500 Phase 4 Pravastatin
31 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
32 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
33 Community Based Multiple Risk Factors Intervention Strategy to Prevent Cardiovascular and Chronic Kidney Diseases [CORFIS] Completed NCT00490672 Phase 4
34 A Randomized, Prospective, Open Label, Active Control, Phase IV Study to Evaluate the Effects of Statin Monotherapy or Statin / Ezetimibe Combination Therapy on Hepatic Steatosis in Patients With Hyperlipidemia and Nonalcoholic Fatty Liver Disease Completed NCT03434613 Phase 4 Rosuvastatin;Rosuvastatin/ezetimibe combination
35 Telephone Based Management of Hyperlipidemia Utilizing a Self Monitoring Testing Device Completed NCT01212159 Phase 4
36 Evaluation of Plant Sterol and Placebo on Low-density Lipoprotein Concentrations in Hyperlipidemic Patients Treated With Combination Statin and Colesevelam Therapy. Completed NCT00249938 Phase 4 Minute Maid Heart Wise orange juice;Welchol
37 A Prospective, Open Label Comparison of Ezetimibe, Niacin, and Colestipol as Adjunct Therapy in Lipid Reduction Completed NCT00203476 Phase 4 Niacin;Colestipol;Ezetimibe
38 The Effect of Fenofibrate on Endothelial Function and HDL in Patients With Coronary Heart Disease and LDL-C at Goal Completed NCT00552747 Phase 4 fenofibrate;placebo
39 Evaluation of Statin-induced Lipid-rich Plaque Progression by Optical Coherence Tomography (OCT)Combined With Intravascular Ultrasound (IVUS) Completed NCT01023607 Phase 4 Atorvastatin;Atorvastatin;Rosuvastatin
40 Randomised Comparative Study of the Efficacy and Safety of Rosuvastatin and Pravastatin in Dyslipidemic Patients Treated With Antiretroviral Agents. Anrs 126 Completed NCT00117494 Phase 4 Pravastatin;Rosuvastatin
41 Effects of Omega-3 Fatty Acids From Fish Oil on the Gene Expression in Healthy Humans and Humans With Hypertriglyceridemia Completed NCT01089231 Phase 4
42 A Randomized, Open-Labeled, Parallel Group Comparison Study to Evaluate the Efficacy, Safety of Ezetimibe Alone Versus Statin in the Treatment of Hypercholesterolemia Completed NCT00753883 Phase 4 simvastatin;Ezetimibe
43 The Effects of Ezetimibe on Postprandial Hyperlipidemia and Endothelial Dysfunction in Patients With the Metabolic Syndrome. Completed NCT00189085 Phase 4 simvastatin and ezetimibe
44 Randomized, Open-label, Multi-centered Study to Evaluate the Safety and Efficacy of Pitavastatin in Patients With Impaired Fasting Glucose and Hyperlipidemia(Phase 4) Completed NCT02056847 Phase 4 Pitavastatin calcium 4mg;Pitavastatin calcium 2mg
45 Investigate Effect on Mean IMT of Probucol And/or CilosTazol in Patients With Coronary Heart dIsease Taking HMGCoA Reductase Inhibitor Therapy: A Randomized, Multicenter, Multinational Study Completed NCT01291641 Phase 4 HMG-CoA Reductase Inhibitor;Probucol;Cilostazol
46 Efficacy of Almonds Added to Chronic Statin Therapy Completed NCT00603876 Phase 4
47 Genetic Basis for Heterogeneity in Response of Plasma Lipids to Plant Sterols Completed NCT01131832 Phase 4
48 Exploratory Study of the Effects of Omega-3-acid Ethyl Esters on the Lipid and Lipoprotein Profile in the Blood Completed NCT02839902 Phase 4 TAK-085
49 Cholesterol and Pharmacogenetic Study Completed NCT00451828 Phase 4 Simvastatin
50 Stop Atherosclerosis in Native Diabetics Study Completed NCT00147251 Phase 4 FDA approved drugs to treat blood pressure and cholesterol

Search NIH Clinical Center for Familial Hyperlipidemia

Inferred drug relations via UMLS 71 / NDF-RT 50 :


atorvastatin
Atorvastatin calcium
cerivastatin
Cerivastatin sodium
Cholestyramine Resin
Clofibrate
coenzyme Q10
colesevelam
Colesevelam hydrochloride
Colestipol
Colestipol Hydrochloride
Dextrothyroxine
Dextrothyroxine Sodium
Fenofibrate
Fish Oils
fluvastatin
Fluvastatin sodium
Gemfibrozil
Linolenic Acid
Lovastatin
Niacin
Niacinamide
pitavastatin
Pravastatin
Pravastatin Sodium
Probucol
rosuvastatin
Simvastatin

Cochrane evidence based reviews: hyperlipidemias

Sources

Genetic Tests for Familial Hyperlipidemia

About this section
Sources

Anatomical Context for Familial Hyperlipidemia

About this section

MalaCards organs/tissues related to Familial Hyperlipidemia:

40
Heart, Liver, Endothelial, Kidney, Testes, Brain, Breast
Sources

Publications for Familial Hyperlipidemia

About this section

Articles related to Familial Hyperlipidemia:

(show top 50) (show all 751)
# Title Authors PMID Year
1
[Apolipoprotein B is associated with metabolic syndrome in Chinese pedigrees with familial hyperlipidemia]. 61 54
15854507 2005
2
The level and species of plasma non-esterified fatty acids are not related to elevated plasma apolipoprotein B levels in familial combined hyperlipidemia. 61 54
11958280 2001
3
[Molecular biology in cardiovascular medicine]. 61 54
7739112 1995
4
[Genotype-phenotype analysis of a homozygous familial hypercholesterolemia pedigree]. 61
32102145 2020
5
Mechanisms underlying direct actions of hyperlipidemia on myocardium: an updated review. 61
32035485 2020
6
Chronic pancreatitis in children: treat like an adult? 61
31753827 2019
7
False Negative D Vitamin Measurement in LC-MS/MS Method Due to Hyperlipidemia: Case Report. 61
31573878 2019
8
Measurement of the Cellular Hemoglobin Concentration by Laser Scatter Method from Excessive Lipemic Sample: CASE REPORT. 61
31553289 2019
9
Insulin resistance in children with familial hyperlipidemia. 61
30433876 2018
10
DYNAMIC RETINA VESSEL COLOR CHANGE DURING OCULAR COMPRESSION IN SEVERE LIPEMIA RETINALIS. 61
29283911 2018
11
[SUDDEN CARDIAC DEATH IN A YOUNG ADULT WITH DIFFUSE CORONARY ARTERY DISEASE]. 61
29072381 2017
12
Case of familial hyperlipoproteinemia type III hypertriglyceridemia induced acute pancreatitis: Role for outpatient apheresis maintenance therapy. 61
29142480 2017
13
Current and emerging treatments for hypercholesterolemia: A focus on statins and proprotein convertase subtilisin/kexin Type 9 inhibitors for perioperative clinicians. 61
28096572 2016
14
Proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors: Present perspectives and future horizons. 61
27352986 2016
15
Tendon Homeostasis in Hypercholesterolemia. 61
27535257 2016
16
Severe dyslipidemia in pregnancy: The role of therapeutic apheresis. 61
26626968 2015
17
The PCSK9 Inhibitors: A Novel Therapeutic Target Enters Clinical Practice. 61
26834934 2015
18
An Unusual Case of Multiple Tendinous Xanthomas Involving the Extremities and the Ears. 61
26955329 2015
19
An athletic adolescent girl with proteinuria and hypertension. 61
25806731 2015
20
How proteomic ApoE serotyping could impact Alzheimer's disease risk assessment: genetic testing by proteomics. 61
24992828 2014
21
A study of the role of GATA2 gene polymorphism in coronary artery disease risk traits. 61
24786211 2014
22
[The fixed combination of pravastatin and fenofibrate: what can it provide?]. 61
25043541 2014
23
Comparison of carotid intima-media thickness in pediatric patients with metabolic syndrome, heterozygous familial hyperlipidemia and normals. 61
24955251 2014
24
Stress perfusion-fibrosis cardiac magnetic resonance detects early heart involvement in young asymptomatic, homozygous familial hyperlipidemia with normal routine non-invasive evaluation. 61
23896536 2013
25
Novel pharmacotherapies of familial hyperlipidemia. 61
23639874 2013
26
[Clinical science relating atherosclerotic diseases and hypertriglyceridemia]. 61
24205712 2013
27
Low-density lipoprotein cholesterol, apolipoprotein B, and risk of coronary heart disease: from familial hyperlipidemia to genomics. 61
22531366 2013
28
Dyslipidemia and sternum fracture. 61
23478107 2013
29
[A case of late drug-eluting stent thrombosis during postoperative period after 5 years of stent implantation]. 61
23815003 2013
30
Susceptibility gene for stroke or cerebral infarction in the Han population in Hunan Province of China. 61
25206448 2013
31
[A comparative and technical assessment of the HELP system (heparin extracorporeal LDL precipitation) and cascade filtration (CF) for the treatment of high plasma lipids]. 61
23832475 2013
32
An infant with milky blood : an unusual but treatable case of familial hyperlipidemia. 61
24426212 2013
33
Etiology, clinical spectrum and outcome of metabolic liver diseases in children. 61
23458042 2013
34
Thrombotic microangiopathy secondary to steroid pulse therapy administered for refractory nephrotic syndrome. 61
24042520 2013
35
Targeted profiling of atherogenic phospholipids in human plasma and lipoproteins of hyperlipidemic patients using MALDI-QIT-TOF-MS/MS. 61
22795978 2012
36
Subcutaneous NPH Insulin for Severe Hypertriglyceridemia in a Pregnant Patient with Type V Hyperlipoproteinemia: a Case Report. 61
25207002 2012
37
Acute myocardial infarction in an adolescent. 61
22327763 2012
38
Noninvasive measurement of plasma triglycerides and free fatty acids from exhaled breath. 61
22401327 2012
39
Molecular prediction for atherogenic risks across different cell types of leukocytes. 61
22244445 2012
40
Apolipoprotein E mimetics and cholesterol-lowering properties. 61
22149316 2011
41
Supravalvular aortic stenosis secondary to severe lipid accumulation in the ascending aorta in a patient with uncontrolled familial hyperlipidemia. 61
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Successful surgical management for aortic and mitral stenosis in homozygous familial hypercholesterolemia: a case report. 61
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Diffuse involvement of aorta in patient with familial hyperlipidemia. 61
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Eruptive xanthomas as a cutaneous manifestation of hypertriglyceridemia: a case report. 61
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Impact of restricted reimbursement on the use of statins in Finland: a register-based study. 61
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Antihyperlipidemic agents cause a decrease in von Willebrand factor levels in pediatric patients with familial hyperlipidemia. 61
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[Two cases of unstable angina in patients treated with bevacizumab]. 61
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48
In vivo efficacy of acyl CoA: diacylglycerol acyltransferase (DGAT) 1 inhibition in rodent models of postprandial hyperlipidemia. 54
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Themes of liver transplantation. 61
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Elevated HDL2-paraoxonase and reduced CETP activity are associated with a dramatically lower ratio of LDL-cholesterol/total cholesterol in a hypercholesterolemic and hypertriglyceridemic patient. 54
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Sources

Variations for Familial Hyperlipidemia

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ClinVar genetic disease variations for Familial Hyperlipidemia:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRMT7 NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter)SNV Pathogenic 523434 rs1251713297 16:68389688-68389688 16:68355785-68355785
2 PRMT7 NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)SNV Pathogenic/Likely pathogenic 523435 rs1014959895 16:68363008-68363008 16:68329105-68329105
3 GBA NM_000157.4(GBA):c.1093G>A (p.Glu365Lys)SNV risk factor 199044 rs2230288 1:155206167-155206167 1:155236376-155236376
Sources

Expression for Familial Hyperlipidemia

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Search GEO for disease gene expression data for Familial Hyperlipidemia.
Sources

Pathways for Familial Hyperlipidemia

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Pathways related to Familial Hyperlipidemia according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.81 PPARA PON1 LPL LPA LIPC LDLR
2
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) 65
Show member pathways
 12.69 PPARA LPL LEP HMGCR APOA1
3
Metabolism of water-soluble vitamins and cofactors 65
Show member pathways
 12.52 LPL LDLR APOE APOC3 APOC2 APOB
4
Lipoprotein metabolism 65
Show member pathways
 12.23 LPL LPA LIPC LDLR LCAT CETP
5
Folate Metabolism 1
Show member pathways
 12.13 SERPINE1 LDLR INS APOE APOB APOA1
6
Metabolism of fat-soluble vitamins 65
Show member pathways
 12.03 LPL LDLR APOE APOC3 APOC2 APOB
7
Adipogenesis 1
11.92 SERPINE1 PPARA LPL LEP INS
8
Binding and Uptake of Ligands by Scavenger Receptors 65
Show member pathways
 11.73 APOE APOB APOA1
9
Mesenchymal Stem Cells and Lineage-specific Markers 64
11.66 LPL LEP INS
10
PPAR signaling pathway 36
11.64 PPARA LPL APOC3 APOA1
11
Sterol Regulatory Element-Binding Proteins (SREBP) signalling 1
11.6 LPL LDLR INS HMGCR
12
Statin Pathway 1
Show member pathways
 11.47 LPL LPA LIPC LDLR LCAT HMGCR
13
PPAR Alpha Pathway 1
11.09 PPARA APOC3 APOA1
14
SREBF and miR33 in cholesterol and lipid homeostasis 1
10.93 PPARA LDLR HMGCR
Sources

GO Terms for Familial Hyperlipidemia

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Cellular components related to Familial Hyperlipidemia according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.28 SERPINE1 PON1 LPL LPA LIPC LEP
2 extracellular space GO:0005615 10.21 SERPINE1 PON1 LPL LIPC LEP LCAT
3 extracellular exosome GO:0070062 10.19 SERPINE1 PON1 LCAT GBA CETP APOE
4 early endosome GO:0005769 9.93 LDLR APOE APOC3 APOC2 APOB APOA1
5 endoplasmic reticulum lumen GO:0005788 9.92 LIPC INS APOE APOB APOA1
6 very-low-density lipoprotein particle GO:0034361 9.73 LPL APOE APOC3 APOC2 APOB APOA1
7 low-density lipoprotein particle GO:0034362 9.72 LDLR APOE APOC2 APOB APOA1
8 spherical high-density lipoprotein particle GO:0034366 9.71 PON1 APOC3 APOC2 APOA1
9 clathrin-coated endocytic vesicle membrane GO:0030669 9.67 LDLR APOE APOB
10 endocytic vesicle lumen GO:0071682 9.65 APOE APOB APOA1
11 endosome lumen GO:0031904 9.55 INS APOB
12 intermediate-density lipoprotein particle GO:0034363 9.55 APOE APOC3 APOC2 APOB APOA1
13 discoidal high-density lipoprotein particle GO:0034365 9.51 APOE APOA1
14 chylomicron GO:0042627 9.43 LPL APOE APOC3 APOC2 APOB APOA1
15 high-density lipoprotein particle GO:0034364 9.23 PON1 LIPC LCAT CETP APOE APOC2

Biological processes related to Familial Hyperlipidemia according to GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Name GO ID Score Top Affiliating Genes
1 lipid transport GO:0006869 10.13 LPA LDLR CETP APOE APOC3 APOC2
2 steroid metabolic process GO:0008202 10.11 LDLR LCAT HMGCR GBA CETP APOE
3 lipid catabolic process GO:0016042 10.03 LPL LIPC APOC3 APOC2 APOB
4 retinoid metabolic process GO:0001523 10.03 LPL APOE APOC3 APOC2 APOB APOA1
5 cellular protein metabolic process GO:0044267 10.02 INS APOE APOB APOA1
6 triglyceride homeostasis GO:0070328 10 LPL LIPC CETP APOE APOC3 APOC2
7 receptor-mediated endocytosis GO:0006898 9.99 LDLR APOE APOB APOA1
8 negative regulation of inflammatory response GO:0050728 9.97 PPARA GBA APOE APOA1
9 cholesterol efflux GO:0033344 9.97 APOE APOC3 APOC2 APOB APOA1
10 lipoprotein metabolic process GO:0042157 9.97 PPARA LDLR APOE APOC3 APOB APOA1
11 low-density lipoprotein particle remodeling GO:0034374 9.95 LPA LIPC CETP APOE APOB
12 cholesterol transport GO:0030301 9.95 LIPC LDLR LCAT CETP APOB APOA1
13 intermembrane lipid transfer GO:0120009 9.93 CETP APOE APOB APOA1
14 chylomicron assembly GO:0034378 9.93 APOE