MCID: FML035
MIFTS: 55

Familial Hyperlipidemia

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Familial Hyperlipidemia

MalaCards integrated aliases for Familial Hyperlipidemia:

Name: Familial Hyperlipidemia 12 15 71
Familial Hyperlipoproteinemia 12 74 54 71
Hyperlipoproteinemias 44 71
Hyperlipidaemia 12 15
Hyperlipidemia 17 71
Hyperlipidemias 44
Hyperlipemia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1168
SNOMED-CT 67 154739000 3744001
ICD10 32 E78.5
UMLS 71 C0020473 C0020476 C0694546 more

Summaries for Familial Hyperlipidemia

MalaCards based summary : Familial Hyperlipidemia, also known as familial hyperlipoproteinemia, is related to familial lipoprotein lipase 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 Candesartan cilexetil and Atorvastatin have been mentioned in the context of this disorder. Affiliated tissues include endothelial, liver and breast, and related phenotypes are Decreased free cholesterol and Decreased LDL uptake

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

Related Diseases for Familial Hyperlipidemia

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 697)
# Related Disease Score Top Affiliating Genes
1 familial lipoprotein lipase deficiency 32.2 LPL LIPC APOE APOC3 APOC2 APOB
2 hyperlipoproteinemia, type v 31.9 LPL INS HMGCR APOE APOC3 APOC2
3 hyperlipoproteinemia, type iii 31.6 LPL LPA LIPC LDLR HMGCR CETP
4 hyperlipoproteinemia, type i 31.5 LPL LPA LIPC LCAT CETP APOE
5 familial hypercholesterolemia 31.0 SERPINE1 PON1 LPL LPA LIPC LDLR
6 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.8 LEP INS ADIPOQ
7 hyperglycemia 30.8 SERPINE1 LPL LEP INS APOB ADIPOQ
8 homocysteinemia 30.7 SERPINE1 PON1 APOE
9 hyperuricemia 30.7 LEP INS APOB
10 hypoalphalipoproteinemia 30.6 LIPC LCAT APOA1
11 fatty liver disease 30.6 SERPINE1 PRMT7 PPARA LEP INS APOC3
12 stroke, ischemic 30.4 SERPINE1 PON1 LPA LDLR HMGCR APOE
13 xanthomatosis 30.4 LPL LPA LDLR HMGCR APOE APOB
14 end stage renal disease 30.4 PON1 LEP INS APOB ADIPOQ
15 hepatic lipase deficiency 30.4 LPL LIPC APOE APOA1
16 intermediate coronary syndrome 30.4 INS APOB APOA1
17 hypercholesterolemia, familial, 2 30.4 LDLR APOE APOB
18 peripheral vascular disease 30.4 SERPINE1 LPA LCAT HMGCR CETP APOB
19 amyloidosis 30.4 LPA INS APOE APOA1
20 non-alcoholic steatohepatitis 30.4 SERPINE1 PPARA INS APOE ADIPOQ
21 glucose intolerance 30.4 LPL LEP INS ADIPOQ
22 homozygous familial hypercholesterolemia 30.4 LIPC LDLR HMGCR APOE APOB APOA1
23 hyperlipoproteinemia, type iv 30.4 LPL INS CETP APOE APOC3 APOC2
24 angina pectoris 30.3 INS APOA1 ADIPOQ
25 xanthoma disseminatum 30.3 APOE APOB
26 arcus corneae 30.3 LPA LDLR LCAT APOB APOA1
27 type 1 diabetes mellitus 30.3 PON1 LEP INS CETP APOB APOA1
28 cholelithiasis 30.3 LEP INS APOE
29 coronary stenosis 30.2 SERPINE1 PON1 LPL CETP APOE APOB
30 aortic aneurysm, familial abdominal, 1 30.2 SERPINE1 CETP APOE
31 pre-eclampsia 30.2 SERPINE1 PON1 LEP INS ADIPOQ
32 hypercholesterolemia, familial, 1 30.2 LPL LPA LIPC LDLR LCAT INS
33 hypothalamic obesity 30.2 LEP INS
34 hypobetalipoproteinemia, familial, 1 30.2 LCAT APOE APOC3 APOC2 APOB APOA1
35 sitosterolemia 30.2 LCAT HMGCR APOB APOA1
36 algoneurodystrophy 30.1 LCAT INS
37 peripheral artery disease 30.1 LEP APOE APOB APOA1
38 cerebral atherosclerosis 30.1 APOE APOB APOA1
39 overnutrition 30.1 SERPINE1 PPARA LPL LEP INS APOB
40 hypertriglyceridemia, familial 30.1 SERPINE1 LPL LIPC INS CETP APOE
41 defective apolipoprotein b-100 30.1 LDLR LCAT HMGCR APOE APOB
42 hypolipoproteinemia 30.1 LPL LPA LCAT CETP APOE APOC3
43 sea-blue histiocyte disease 30.1 LCAT APOE
44 acanthosis nigricans 30.1 PRMT7 LEP INS ADIPOQ
45 lipoprotein glomerulopathy 30.0 LPA LDLR LCAT APOE APOB
46 carotid artery disease 30.0 PON1 LPA APOE APOB APOA1
47 acute myocardial infarction 30.0 SERPINE1 LPA HMGCR APOB APOA1
48 arteries, anomalies of 30.0 SERPINE1 LEP INS APOE APOB APOA1
49 hyperalphalipoproteinemia 1 30.0 LPL LIPC LDLR LCAT CETP APOC3
50 microvascular complications of diabetes 5 30.0 SERPINE1 PON1 INS

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



Diseases related to Familial Hyperlipidemia

Symptoms & Phenotypes for Familial Hyperlipidemia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.96 LDLR LIPC
2 Decreased LDL uptake GR00340-A-1 8.62 LDLR LPL

MGI Mouse Phenotypes related to Familial Hyperlipidemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 ADIPOQ APOA1 APOB APOE INS LCAT
2 homeostasis/metabolism MP:0005376 10.16 ADIPOQ APOA1 APOB APOC2 APOE HMGCR
3 cellular MP:0005384 10.15 ADIPOQ APOA1 APOB APOE HMGCR INS
4 adipose tissue MP:0005375 10.09 ADIPOQ APOE INS LDLR LEP LPL
5 endocrine/exocrine gland MP:0005379 9.97 ADIPOQ APOA1 APOE INS LCAT LDLR
6 integument MP:0010771 9.85 ADIPOQ APOA1 APOE INS LDLR LEP
7 liver/biliary system MP:0005370 9.77 ADIPOQ APOA1 APOB APOE HMGCR INS
8 muscle MP:0005369 9.28 ADIPOQ APOB APOE INS LDLR LEP

Drugs & Therapeutics for Familial Hyperlipidemia

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

(show top 50) (show all 319)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
2
Atorvastatin Approved Phase 4 134523-00-5 60823
3
Probucol Approved, Investigational Phase 4 23288-49-5 4912
4
Colestipol Approved Phase 4 26658-42-4
5 Orange Approved Phase 4
6
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
7
Pravastatin Approved Phase 4 81093-37-0 54687
8
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
9
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
10
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
11
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
12
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
13
Saxagliptin Approved Phase 4 361442-04-8 11243969
14
Coal tar Approved Phase 4 8007-45-2
15
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
16
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
17
Calcium polycarbophil Approved Phase 4 126040-58-2
18
Amiodarone Approved, Investigational Phase 4 1951-25-3 2157
19
Metformin Approved Phase 4 657-24-9 14219 4091
20
Liraglutide Approved Phase 4 204656-20-2 44147092
21
Evolocumab Approved Phase 4 1256937-27-5
22
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
23
Fenofibrate Approved Phase 4 49562-28-9 3339
24
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
25
Creatine Approved, Investigational, Nutraceutical Phase 4 57-00-1 586
26
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
27
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
28
Candesartan Experimental Phase 4 139481-59-7 2541
29 2-(3-(4-ethoxybenzyl)-4-chlorophenyl)-6-hydroxymethyltetrahydro-2H-pyran-3,4,... Phase 4
30 Sodium-Glucose Transporter 2 Inhibitors Phase 4
31 Tin Fluorides Phase 4
32 Cytochrome P-450 Enzyme Inhibitors Phase 4
33 Neurotransmitter Agents Phase 4
34 HIV Protease Inhibitors Phase 4
35
protease inhibitors Phase 4
36 Colesevelam Hydrochloride Phase 4
37 Phytosterol Phase 4
38 Neuroprotective Agents Phase 4
39 Gastrointestinal Agents Phase 4
40 Anti-Retroviral Agents Phase 4
41 Liver Extracts Phase 4
42 Respiratory System Agents Phase 4
43 Anti-Asthmatic Agents Phase 4
44 Fibrinolytic Agents Phase 4
45 Phosphodiesterase Inhibitors Phase 4
46 Phosphodiesterase 3 Inhibitors Phase 4
47 Platelet Aggregation Inhibitors Phase 4
48 Bronchodilator Agents Phase 4
49 Shiitake Phase 4
50 Anti-HIV Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 665)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 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
5 Effects of Dapagliflozin on Hyperlipidemia, Glycemic Control and Insulin Resistance in Type 2 Diabetic Patients (DAPHNIS Study) Unknown status NCT02577159 Phase 4 Dapagliflozin
6 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
7 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)
8 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
9 A 104-week, Open-label, Single-group Study: Rosuvastatin Evaluation of Atherosclerotic Chinese Patients (REACH) Unknown status NCT00885872 Phase 4 Rosuvastatin (Crestor)
10 A Randomized, Double-blind, Multi-center Clinical Trial to Evaluate Efficacy and Safety of Ezetimibe/Rosuvastatin Combination Tablets and Candesartan Cilexetil/Amlodipine Besylate Combination Tablets Unknown status NCT03847506 Phase 4 Ezetimibe/Rosuvastatin;Candesartan cilexetil/Amlodipine besylate;Candesartan cilexetil
11 Effect of Fenofibrate and Rosuvastatin on Sexual Dysfunction in Hyperlipidemic Patients. A Randomized Trial Unknown status NCT00923676 Phase 4 fenofibrate;Rosuvastatin;fenofibrate + rosuvastatin
12 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
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 Double-blind and Placebo-controlled Study on Intervention Effect of n-3 Fatty Acids on Glucose and Lipid Homeostasis Disorders in Obese/Diabetic Populations Unknown status NCT03708887 Phase 4 Low dose omega-3 fatty acid supplementation;High dose omega-3 fatty acid supplementation;Control drug
15 Goal Achievement of A1c and LDL in a Randomized Trial Comparing Colesevelam vs. Ezetimibe as Add-on to Baseline Statin Therapy: The GOAL-RCT Trial Completed NCT02682680 Phase 4 Colesevelam;Ezetimibe
16 A Prospective, Open Label Comparison of Ezetimibe, Niacin, and Colestipol as Adjunct Therapy in Lipid Reduction Completed NCT00203476 Phase 4 Niacin;Colestipol;Ezetimibe
17 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
18 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
19 A Randomized , Open Label, Dose Titration Study to Evaluate the Effect of Pitavastatin Versus Atorvastatin in Patients With Hypercholesterolemia and Mild to Moderate Hepatic Damage Completed NCT01166633 Phase 4 pitavastatin;atorvastatin
20 Community Based Multiple Risk Factors Intervention Strategy to Prevent Cardiovascular and Chronic Kidney Diseases [CORFIS] Completed NCT00490672 Phase 4
21 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
22 A Randomised, Double-Blind Study of Pravastatin for the Treatment of Hyperlipidaemia in Patients With HIV Completed NCT00227500 Phase 4 Pravastatin
23 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
24 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
25 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
26 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
27 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
28 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
29 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
30 Tolerability and Efficacy of Rosuvastatin - Fenofibrate Combine Therapy in Korean Patients With Combined Hyperlipidemia Completed NCT01414803 Phase 4 Lipid modification;Lipid modification
31 Telephone Based Management of Hyperlipidemia Utilizing a Self Monitoring Testing Device Completed NCT01212159 Phase 4
32 The Effects of Ezetimibe on Postprandial Hyperlipidemia and Endothelial Dysfunction in Patients With the Metabolic Syndrome. Completed NCT00189085 Phase 4 simvastatin and ezetimibe
33 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
34 Effects of Exenatide on Postprandial Hyperlipidemia and Inflammation Completed NCT00974272 Phase 4 Exenatide
35 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
36 Comparison of the Efficacy and Safety of Cresnon® and Crestor® in Patients With Hyperlipidemia Completed NCT02280590 Phase 4 Rosuvastatin(Cresnon®);Rosuvastatin(Crestor®)
37 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
38 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
39 Effects of Omega-3 Fatty Acids From Fish Oil on the Gene Expression in Healthy Humans and Humans With Hypertriglyceridemia Completed NCT01089231 Phase 4
40 Management of Elevated Cholesterol in the Primary Prevention Group of Adult Japanese(MEGA Study) Completed NCT00211705 Phase 4 Diet+pravastatin
41 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
42 Comparative Effects of Antidiabetic Medications on Postprandial Hyperlipidemia, Free Fatty Acid Signaling, and Endothelial Dysfunction in Individuals With Prediabetes Completed NCT02104739 Phase 4 Exenatide;Saxagliptin;Exenatide extended-release (ER)
43 Lipid Lowering Effect, and Lipidomic Profiles by Genotype of OATP1B1 and BCRP After Administration of Rosuvastatin in Patients With Hyperlipidemia Completed NCT01466608 Phase 4 Rosuvastatin
44 The Effects of Home Bicycle Exercise Program on Hyperlipidemia, Hypertension, Blood Sugar Control, Muscle Strength and Aerobic Capacity Completed NCT02268292 Phase 4
45 Efficacy of Almonds Added to Chronic Statin Therapy Completed NCT00603876 Phase 4
46 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
47 Genetic Basis for Heterogeneity in Response of Plasma Lipids to Plant Sterols Completed NCT01131832 Phase 4
48 Cholesterol and Pharmacogenetic Study Completed NCT00451828 Phase 4 Simvastatin
49 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
50 Relationship Between Insulin Resistance and Statin Induced Type 2 Diabetes, and Integrative Personal Omics Profiling Completed NCT02437084 Phase 4 Atorvastatin

Search NIH Clinical Center for Familial Hyperlipidemia

Inferred drug relations via UMLS 71 / NDF-RT 51 :


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

Genetic Tests for Familial Hyperlipidemia

Anatomical Context for Familial Hyperlipidemia

MalaCards organs/tissues related to Familial Hyperlipidemia:

40
Endothelial, Liver, Breast, Bone, Heart, Thyroid, Ovary

Publications for Familial Hyperlipidemia

Articles related to Familial Hyperlipidemia:

(show top 50) (show all 753)
# 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
Whole exome sequencing for non-selective pediatric patients with hyperlipidemia. 61
33217533 2021
5
Bempedoic Acid: A New Drug for an Old Problem. 61
32674598 2021
6
Plaque Regression and Endothelial Progenitor Cell Mobilization With Intensive Lipid Elimination Regimen (PREMIER). 61
32791950 2020
7
Mechanisms underlying direct actions of hyperlipidemia on myocardium: an updated review. 61
32035485 2020
8
[Genotype-phenotype analysis of a homozygous familial hypercholesterolemia pedigree]. 61
32102145 2020
9
The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease. 61
33519890 2020
10
Chronic pancreatitis in children: treat like an adult? 61
31753827 2019
11
False Negative D Vitamin Measurement in LC-MS/MS Method Due to Hyperlipidemia: Case Report. 61
31573878 2019
12
Measurement of the Cellular Hemoglobin Concentration by Laser Scatter Method from Excessive Lipemic Sample: CASE REPORT. 61
31553289 2019
13
Insulin resistance in children with familial hyperlipidemia. 61
30433876 2018
14
DYNAMIC RETINA VESSEL COLOR CHANGE DURING OCULAR COMPRESSION IN SEVERE LIPEMIA RETINALIS. 61
29283911 2018
15
[SUDDEN CARDIAC DEATH IN A YOUNG ADULT WITH DIFFUSE CORONARY ARTERY DISEASE]. 61
29072381 2017
16
Case of familial hyperlipoproteinemia type III hypertriglyceridemia induced acute pancreatitis: Role for outpatient apheresis maintenance therapy. 61
29142480 2017
17
Current and emerging treatments for hypercholesterolemia: A focus on statins and proprotein convertase subtilisin/kexin Type 9 inhibitors for perioperative clinicians. 61
28096572 2016
18
Proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors: Present perspectives and future horizons. 61
27352986 2016
19
Tendon Homeostasis in Hypercholesterolemia. 61
27535257 2016
20
Severe dyslipidemia in pregnancy: The role of therapeutic apheresis. 61
26626968 2015
21
The PCSK9 Inhibitors: A Novel Therapeutic Target Enters Clinical Practice. 61
26834934 2015
22
An Unusual Case of Multiple Tendinous Xanthomas Involving the Extremities and the Ears. 61
26955329 2015
23
An athletic adolescent girl with proteinuria and hypertension. 61
25806731 2015
24
How proteomic ApoE serotyping could impact Alzheimer's disease risk assessment: genetic testing by proteomics. 61
24992828 2014
25
A study of the role of GATA2 gene polymorphism in coronary artery disease risk traits. 61
24786211 2014
26
[The fixed combination of pravastatin and fenofibrate: what can it provide?]. 61
25043541 2014
27
Comparison of carotid intima-media thickness in pediatric patients with metabolic syndrome, heterozygous familial hyperlipidemia and normals. 61
24955251 2014
28
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
29
[Clinical science relating atherosclerotic diseases and hypertriglyceridemia]. 61
24205712 2013
30
Novel pharmacotherapies of familial hyperlipidemia. 61
23639874 2013
31
Low-density lipoprotein cholesterol, apolipoprotein B, and risk of coronary heart disease: from familial hyperlipidemia to genomics. 61
22531366 2013
32
Dyslipidemia and sternum fracture. 61
23478107 2013
33
[A case of late drug-eluting stent thrombosis during postoperative period after 5 years of stent implantation]. 61
23815003 2013
34
Susceptibility gene for stroke or cerebral infarction in the Han population in Hunan Province of China. 61
25206448 2013
35
[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
36
An infant with milky blood : an unusual but treatable case of familial hyperlipidemia. 61
24426212 2013
37
Etiology, clinical spectrum and outcome of metabolic liver diseases in children. 61
23458042 2013
38
Thrombotic microangiopathy secondary to steroid pulse therapy administered for refractory nephrotic syndrome. 61
24042520 2013
39
Targeted profiling of atherogenic phospholipids in human plasma and lipoproteins of hyperlipidemic patients using MALDI-QIT-TOF-MS/MS. 61
22795978 2012
40
Subcutaneous NPH Insulin for Severe Hypertriglyceridemia in a Pregnant Patient with Type V Hyperlipoproteinemia: a Case Report. 61
25207002 2012
41
Acute myocardial infarction in an adolescent. 61
22327763 2012
42
Noninvasive measurement of plasma triglycerides and free fatty acids from exhaled breath. 61
22401327 2012
43
Molecular prediction for atherogenic risks across different cell types of leukocytes. 61
22244445 2012
44
Apolipoprotein E mimetics and cholesterol-lowering properties. 61
22149316 2011
45
Supravalvular aortic stenosis secondary to severe lipid accumulation in the ascending aorta in a patient with uncontrolled familial hyperlipidemia. 61
21918328 2011
46
Successful surgical management for aortic and mitral stenosis in homozygous familial hypercholesterolemia: a case report. 61
21751111 2011
47
Diffuse involvement of aorta in patient with familial hyperlipidemia. 61
22347657 2011
48
Eruptive xanthomas as a cutaneous manifestation of hypertriglyceridemia: a case report. 61
21278899 2011
49
Impact of restricted reimbursement on the use of statins in Finland: a register-based study. 61
20706164 2010
50
Antihyperlipidemic agents cause a decrease in von Willebrand factor levels in pediatric patients with familial hyperlipidemia. 61
21073119 2010

Variations for Familial Hyperlipidemia

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 523435 rs1014959895 16:68363008-68363008 16:68329105-68329105
3 LOC106627981 NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) SNV risk factor 199044 rs2230288 1:155206167-155206167 1:155236376-155236376
4 APOE NM_000041.4(APOE):c.422A>G (p.Gln141Arg) SNV Uncertain significance 917851 19:45411975-45411975 19:44908718-44908718

Expression for Familial Hyperlipidemia

Search GEO for disease gene expression data for Familial Hyperlipidemia.

Pathways for Familial Hyperlipidemia

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 PPARA PON1 LPL LPA LIPC LDLR
2
Show member pathways
12.77 PPARA LPL LEP HMGCR APOA1 ADIPOQ
3
Show member pathways
12.58 LPL LDLR APOE APOC3 APOC2 APOB
4
Show member pathways
12.32 LEP INS HMGCR ADIPOQ
5
Show member pathways
12.23 LPL LPA LIPC LDLR LCAT CETP
6
Show member pathways
12.21 SERPINE1 LDLR INS APOE APOB APOA1
8
Show member pathways
12.03 LPL LDLR APOE APOC3 APOC2 APOB
9 11.85 SERPINE1 PPARA LPL LEP INS ADIPOQ
10 11.77 LPL LEP INS ADIPOQ
11
Show member pathways
11.76 APOE APOB APOA1
12 11.65 PPARA LPL APOC3 APOA1 ADIPOQ
13 11.62 LPL LDLR INS HMGCR
14 11.56 PPARA LEP ADIPOQ
15
Show member pathways
11.47 LPL LPA LIPC LDLR LCAT HMGCR
16 11.1 PPARA APOC3 APOA1
17 10.93 PPARA LDLR HMGCR

GO Terms for Familial Hyperlipidemia

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

(show all 14)
# 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 collagen-containing extracellular matrix GO:0062023 9.93 SERPINE1 APOE APOC3 APOA1 ADIPOQ
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 spherical high-density lipoprotein particle GO:0034366 9.73 PON1 APOC3 APOC2 APOA1
7 very-low-density lipoprotein particle GO:0034361 9.73 LPL APOE APOC3 APOC2 APOB APOA1
8 low-density lipoprotein particle GO:0034362 9.72 LDLR APOE APOC2 APOB 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 intermediate-density lipoprotein particle GO:0034363 9.55 APOE APOC3 APOC2 APOB APOA1
12 discoidal high-density lipoprotein particle GO:0034365 9.51 APOE APOA1
13 chylomicron GO:0042627 9.43 LPL APOE APOC3 APOC2 APOB APOA1
14 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 76)
# Name GO ID Score Top Affiliating Genes
1 lipid transport GO:0006869 10.11 LPA LDLR CETP APOE APOC3 APOC2
2 steroid metabolic process GO:0008202 10.09 LDLR LCAT HMGCR CETP APOE APOB
3 lipid catabolic process GO:0016042 10.04 LPL LIPC APOC3 APOC2 APOB
4 retinoid metabolic process GO:0001523 10.04 LPL APOE APOC3 APOC2 APOB APOA1
5 cellular protein metabolic process GO:0044267 10.03 INS APOE APOB APOA1
6 receptor-mediated endocytosis GO:0006898 10 LDLR APOE APOB APOA1
7 negative regulation of inflammatory response GO:0050728 9.98 PPARA APOE APOA1 ADIPOQ
8 response to ethanol GO:0045471 9.97 PPARA LEP HMGCR ADIPOQ
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 response to nutrient GO:0007584 9.96 LEP HMGCR APOA1 ADIPOQ
12 response to nutrient levels GO:0031667 9.95 PON1 LEP HMGCR ADIPOQ
13 cholesterol transport GO:0030301 9.95 LIPC LDLR LCAT CETP APOB APOA1
14 reverse cholesterol transport GO:0043691 9.95 LIPC LCAT CETP APOE APOC3 APOC2
15 intermembrane lipid transfer GO:0120009 9.94 CETP APOE APOB APOA1
16 triglyceride metabolic process GO:0006641 9.93 LPL CETP APOE APOC3
17 low-density lipoprotein particle remodeling GO:0034374 9.93 LPA LIPC CETP APOE APOB
18 chylomicron remodeling GO:0034371 9.93 LPL APOE APOC3 APOC2 APOB APOA1
19 positive regulation of inflammatory response GO:0050729 9.92 SERPINE1 LPL LDLR
20 regulation of lipid metabolic process GO:0019216 9.92 PPARA HMGCR APOA1
21 triglyceride catabolic process GO:0019433 9.92 LPL LIPC APOC3 APOB
22 chylomicron assembly GO:0034378 9.92 APOE APOC3 APOC2 APOB APOA1
23 circadian rhythm GO:0007623 9.91 SERPINE1 LEP ADIPOQ
24 positive regulation of cholesterol efflux GO:0010875 9.91 PON1 APOE APOA1 ADIPOQ
25 phosphatidylcholine metabolic process GO:0046470 9.91 PON1 LCAT CETP APOA1
26 chylomicron remnant clearance GO:0034382 9.91 LIPC LDLR APOE APOC3 APOC2 APOB
27 high-density lipoprotein particle remodeling GO:0034375 9.91 LIPC LCAT CETP APOE APOC3 APOC2
28 phospholipid metabolic process GO:0006644 9.9 LPL LCAT APOA1
29 positive regulation of lipid biosynthetic process GO:0046889 9.9 PPARA INS APOE APOA1
30 glucose metabolic process GO:0006006 9.89 LEP INS ADIPOQ
31 phospholipid efflux GO:0033700 9.89 APOE APOC3 APOC2 APOA1
32 high-density lipoprotein particle clearance GO:0034384 9.88 LDLR APOE APOC2 APOA1
33 phospholipid transport GO:0015914 9.87 LDLR CETP APOA1
34 negative regulation of MAP kinase activity GO:0043407 9.87 HMGCR APOE ADIPOQ
35 very-low-density lipoprotein particle remodeling GO:0034372 9.87 LPL LIPC LCAT CETP APOE APOC2
36 lipoprotein biosynthetic process GO:0042158 9.86 LCAT APOE APOB APOA1
37 triglyceride homeostasis GO:0070328 9.86 LPL LIPC HMGCR CETP APOE APOC3
38 cholesterol metabolic process GO:0008203 9.85 PON1 LIPC LEP LDLR LCAT HMGCR
39 artery morphogenesis GO:0048844 9.84 LDLR APOE APOB
40 negative regulation of protein secretion GO:0050709 9.84 INS HMGCR APOE
41 low-density lipoprotein particle clearance GO:0034383 9.83 LDLR APOB ADIPOQ
42 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.82 PPARA CETP ADIPOQ
43 regulation of Cdc42 protein signal transduction GO:0032489 9.81 APOE APOC3 APOA1
44 lipoprotein catabolic process GO:0042159 9.8 LDLR APOE APOB
45 fatty acid homeostasis GO:0055089 9.75 INS APOE
46 phospholipid homeostasis GO:0055091 9.75 CETP APOA1
47 positive regulation of lipid storage GO:0010884 9.75 LPL APOB
48 regulation of cholesterol metabolic process GO:0090181 9.75 LDLR APOE
49 positive regulation of fatty acid biosynthetic process GO:0045723 9.75 APOC2 APOA1
50 negative regulation of blood coagulation GO:0030195 9.74 SERPINE1 APOE

Molecular functions related to Familial Hyperlipidemia according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.91 SERPINE1 LPL LEP APOE APOA1 ADIPOQ
2 lipid binding GO:0008289 9.8 PPARA CETP APOE APOC3 APOC2 APOA1
3 protease binding GO:0002020 9.77 SERPINE1 LDLR INS
4 heparin binding GO:0008201 9.77 LPL LPA LIPC APOE APOB
5 amyloid-beta binding GO:0001540 9.76 LDLR APOE APOA1
6 cholesterol binding GO:0015485 9.71 CETP APOC3 APOA1
7 lipid transporter activity GO:0005319 9.65 APOE APOB APOA1
8 triglyceride lipase activity GO:0004806 9.63 LPL LIPC LCAT
9 heparan sulfate proteoglycan binding GO:0043395 9.61 LPL APOE
10 low-density lipoprotein particle binding GO:0030169 9.6 LIPC LDLR
11 phospholipase A1 activity GO:0008970 9.58 LPL LIPC
12 apolipoprotein binding GO:0034185 9.58 LPL LPA LIPC
13 phosphatidylserine 1-acylhydrolase activity GO:0052739 9.57 LPL LIPC
14 1-acyl-2-lysophosphatidylserine acylhydrolase activity GO:0052740 9.56 LPL LIPC
15 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.55 APOE APOA1
16 phospholipid binding GO:0005543 9.55 PON1 APOE APOC3 APOB APOA1
17 lipoprotein lipase activity GO:0004465 9.52 LPL LIPC
18 triglyceride binding GO:0017129 9.51 LPL CETP
19 high-density lipoprotein particle receptor binding GO:0070653 9.49 APOC3 APOA1
20 lipoprotein particle binding GO:0071813 9.43 LPL APOE APOA1
21 lipase inhibitor activity GO:0055102 9.13 APOC3 APOC2 APOA1
22 intermembrane cholesterol transfer activity GO:0120020 8.92 CETP APOE APOB APOA1

Sources for Familial Hyperlipidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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