FHCL1
MCID: HYP836
MIFTS: 73

Hypercholesterolemia, Familial, 1 (FHCL1)

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

Aliases & Classifications for Hypercholesterolemia, Familial, 1

MalaCards integrated aliases for Hypercholesterolemia, Familial, 1:

Name: Hypercholesterolemia, Familial, 1 56
Hypercholesterolemia 56 74 29 54 6
Hypercholesterolemia, Susceptibility to 56 29 6
Hypercholesterolemic Xanthomatosis, Familial 56 73
Hyper-Low-Density-Lipoproteinemia 56 73
Familial Hypercholesterolemia 1 29 6
Hyperlipoproteinemia, Type Iia 56 73
Hyperlipoproteinemia, Type Ii 56 73
Ldl Receptor Disorder 56 73
Fhc 56 73
Fh 56 73
Hypercholesterolemia, Familial, Due to Ldlr Defect, Modifier of 56
Hypercholesterolemia, Familial, Modifier of 56
Hypercholesterolemia, Familial, Type 1 39
Familial Hypercholesterolemia 73
Hyperlipoproteinemia Type Ii 74
Ldl Cholesterol Level Qtl2 56
Hypercholesterolaemia 6
Fhc; Fh 56
Fhcl1 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes


HPO:

31
hypercholesterolemia, familial, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 143890
OMIM Phenotypic Series 56 PS143890
MeSH 43 D006938

Summaries for Hypercholesterolemia, Familial, 1

OMIM : 56 Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (LDL), which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis). The disorder occurs in 2 clinical forms: homozygous and heterozygous (Hobbs et al., 1992). The FHCL1 phenotype can be modified by mutation in other genes. For example, in individuals with the LDLR mutation IVS14+1G-A (606945.0063), the phenotype can be altered by a SNP in the APOA2 gene (107670.0002), a SNP in the EPHX2 gene (132811.0001), or a SNP in the GHR gene (600946.0028). (143890)

MalaCards based summary : Hypercholesterolemia, Familial, 1, also known as hypercholesterolemia, is related to hypercholesterolemia, familial, 2 and hyperlipoproteinemia, type iii. An important gene associated with Hypercholesterolemia, Familial, 1 is LDLR (Low Density Lipoprotein Receptor), and among its related pathways/superpathways are Metabolism and Vesicle-mediated transport. The drugs Cilostazol and Probucol have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and liver, and related phenotypes are hypercholesterolemia and xanthelasma

UniProtKB/Swiss-Prot : 73 Familial hypercholesterolemia: A common autosomal dominant disorder characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. The disorder occurs in 2 clinical forms: a mild form that becomes evident in the fourth or fifth decade in individuals carrying heterozygous LDLR mutations; a more severe form that usually manifests in the first two decades of life in individuals with homozygous LDLR mutations.

Wikipedia : 74 Hypercholesterolemia, also called high cholesterol, is the presence of high levels of cholesterol in the... more...

Related Diseases for Hypercholesterolemia, Familial, 1

Diseases in the Rare Hypercholesterolemia family:

Hypercholesterolemia, Familial, 1 Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Familial, 3 Hypercholesterolemia, Familial, 4
Familial Hypercholesterolemia

Diseases related to Hypercholesterolemia, Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 724)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial, 2 34.7 LDLR APOE APOB
2 hyperlipoproteinemia, type iii 32.8 LPL LPA LDLR CETP APOE APOB
3 sitosterolemia 2 32.7 ABCG8 ABCG5
4 hypercholesterolemia, familial, 4 32.6 PCSK9 LDLRAP1 LDLR
5 schnyder corneal dystrophy 32.4 HMGCR APOE APOB APOA2
6 sitosterolemia 1 32.2 ABCG8 ABCG5
7 hyperlipidemia, familial combined, 3 31.8 LPL LDLR LCAT INS COG2 CETP
8 lipoprotein quantitative trait locus 31.1 LPA HMGCR COG2 APOB APOA1
9 arteries, anomalies of 30.8 LPA INS COG2 APOE APOB APOA1
10 defective apolipoprotein b-100 30.8 PCSK9 LDLR LCAT HMGCR APOE APOB
11 aortic valve disease 2 30.7 PCSK9 LPA APOB
12 hyperinsulinism 30.6 LPL INS GHR APOB
13 hypoalphalipoproteinemia 30.6 LCAT APOA2 APOA1
14 glucose intolerance 30.5 LPL INS APOB APOA1
15 peripheral artery disease 30.5 PCSK9 APOE APOB APOA1
16 acute myocardial infarction 30.5 LPA HMGCR APOB APOA1
17 angina pectoris 30.4 LPA INS APOA1
18 hyperuricemia 30.4 INS APOE APOB
19 intermediate coronary syndrome 30.4 PCSK9 LPA INS COG2 APOB APOA1
20 cerebral atherosclerosis 30.3 LPA APOE APOA1
21 non-alcoholic fatty liver disease 30.2 LPL INS HMGCR APOB APOA1
22 generalized atherosclerosis 30.1 LPA INS COG2 APOE APOB
23 abdominal obesity-metabolic syndrome 1 30.1 LPL INS APOB
24 stroke, ischemic 30.1 LPA LDLR HMGCR COG2 APOE APOB
25 hypobetalipoproteinemia, familial, 1 30.1 PCSK9 COG2 APOB
26 smith-lemli-opitz syndrome 30.0 LDLR HMGCR APOE
27 cholelithiasis 30.0 INS APOE ABCG8 ABCG5
28 carotid artery disease 30.0 LPA COG2 APOE APOB APOA2 APOA1
29 cerebrovascular disease 30.0 LPL LPA LDLR INS APOE APOB
30 hepatic lipase deficiency 30.0 LPL APOE APOA1
31 cholesterol ester storage disease 30.0 LDLRAP1 LCAT APOB
32 amyloidosis 29.9 LPA INS APOE APOA2 APOA1
33 arteriosclerosis 29.9 LPL LPA LDLR INS HMGCR COG2
34 sitosterolemia 29.9 PCSK9 LDLRAP1 LCAT HMGCR APOB APOA1
35 hyperlipoproteinemia, type i 29.9 LPL APOE APOB APOA1
36 acquired immunodeficiency syndrome 29.8 ITIH4 APOE APOB APOA1
37 hyperalphalipoproteinemia 1 29.8 LPL LDLR LCAT CETP APOB APOA2
38 familial lipoprotein lipase deficiency 29.8 LPL APOE APOB APOA1
39 coronary stenosis 29.7 PCSK9 LPL CETP APOE APOB APOA1
40 huntington disease-like 1 29.7 LPA LCAT CETP APOE APOB APOA2
41 diabetes mellitus, type i 29.7 LPA INS GHR CETP APOB APOA1
42 hypothyroidism 29.6 LPL LPA LDLR INS GHR COG2
43 osteoporosis 29.6 LPA LDLR INS HMGCR GHR APOE
44 aortic atherosclerosis 29.6 LPL LPA LDLR CETP APOE APOB
45 xanthomatosis 29.6 LPL LPA LDLRAP1 LDLR HMGCR APOE
46 sea-blue histiocyte disease 29.6 PCSK9 LDLRAP1 LCAT APOE ABCG8
47 hepatoblastoma 29.6 LDLR APOB APOA1
48 hypertriglyceridemia, familial 29.5 LPL INS CETP APOE APOB APOA2
49 homozygous familial hypercholesterolemia 29.5 PCSK9 LDLRAP1 LDLR HMGCR APOE APOB
50 eye disease 29.5 LCAT INS HMGCR APOA2 APOA1

Graphical network of the top 20 diseases related to Hypercholesterolemia, Familial, 1:



Diseases related to Hypercholesterolemia, Familial, 1

Symptoms & Phenotypes for Hypercholesterolemia, Familial, 1

Human phenotypes related to Hypercholesterolemia, Familial, 1:

31
# Description HPO Frequency HPO Source Accession
1 hypercholesterolemia 31 HP:0003124
2 xanthelasma 31 HP:0001114
3 corneal arcus 31 HP:0001084

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
xanthelasma
corneal arcus

Skin Nails Hair Skin:
tendinous xanthomas presenting after age 20 years in heterozygotes, during first 4 years of life in homozygotes
planar xanthomas in homozygotes

Cardiovascular Heart:
coronary artery disease presenting after age 30 years in heterozygotes, in childhood in homozygotes

Laboratory Abnormalities:
hypercholesterolemia, 350-550 mg/l in heterozygotes, 650-1000 mg/l in homozygotes

Clinical features from OMIM:

143890

GenomeRNAi Phenotypes related to Hypercholesterolemia, Familial, 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.53 PPP1R17
2 Decreased viability GR00221-A-2 9.53 PPP1R17
3 Decreased viability GR00221-A-4 9.53 PPP1R17
4 Decreased viability GR00249-S 9.53 ABCG5
5 Decreased viability GR00381-A-1 9.53 PPP1R17
6 Decreased viability GR00386-A-1 9.53 ABCG5 APOA2 APOB APOE CETP ITIH4
7 Decreased viability GR00402-S-2 9.53 APOA2 LCAT LDLR PPP1R17
8 Decreased free cholesterol GR00340-A-2 9.16 ABCG8 LDLR
9 Decreased LDL uptake GR00340-A-1 8.96 LDLR LPL

MGI Mouse Phenotypes related to Hypercholesterolemia, Familial, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.86 ABCG5 ABCG8 APOA1 APOA2 APOB APOE
2 cardiovascular system MP:0005385 9.85 ABCG5 APOA1 APOB APOE EPHX2 GHR
3 liver/biliary system MP:0005370 9.44 ABCG5 ABCG8 APOA1 APOB APOE GHR

Drugs & Therapeutics for Hypercholesterolemia, Familial, 1

Drugs for Hypercholesterolemia, Familial, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 490)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
2
Probucol Approved, Investigational Phase 4 23288-49-5 4912
3
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
6 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
7
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
8
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
9
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
10
Thrombin Approved, Investigational Phase 4
11
Citalopram Approved Phase 4 59729-33-8 2771
12
Rilpivirine Approved Phase 4 500287-72-9
13
Darunavir Approved Phase 4 206361-99-1, 635728-49-3 213039
14
Cobicistat Approved Phase 4 1004316-88-4
15
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
16
Mycophenolic acid Approved Phase 4 24280-93-1 446541
17
Abatacept Approved Phase 4 332348-12-6 10237
18
Promethazine Approved, Investigational Phase 4 60-87-7 4927
19
Acetaminophen Approved Phase 4 103-90-2 1983
20
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
21
alemtuzumab Approved, Investigational Phase 4 216503-57-0
22
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
23
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
24
Lovastatin Approved, Investigational Phase 4 75330-75-5 53232
25
Pravastatin Approved Phase 4 81093-37-0 54687
26
Pitavastatin Approved Phase 4 147526-32-7, 147511-69-1 6366718 5282452
27
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
28
leucovorin Approved Phase 4 58-05-9 6006 143
29
Glucosamine Approved, Investigational Phase 4 3416-24-8 439213
30
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
31
Loperamide Approved Phase 4 53179-11-6 3955
32
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
33
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
34
Metformin Approved Phase 4 657-24-9 14219 4091
35
Adenosine Approved, Investigational Phase 4 58-61-7 60961
36
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 10204 6013
37
Nevirapine Approved Phase 4 129618-40-2 4463
38
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
39
Histamine Approved, Investigational Phase 4 51-45-6 774
40
Abacavir Approved, Investigational Phase 4 136470-78-5 441300 65140
41
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
42
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
43
Bexarotene Approved, Investigational Phase 4 153559-49-0 82146
44
Doxazosin Approved Phase 4 74191-85-8 3157
45
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
46
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
47
Clonidine Approved Phase 4 4205-90-7 2803
48
Ramipril Approved Phase 4 87333-19-5 5362129
49
Atenolol Approved Phase 4 29122-68-7 2249
50
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478

Interventional clinical trials:

(show top 50) (show all 1331)
# Name Status NCT ID Phase Drugs
1 Probiotic BIO-25 as a Supplement to Statins for the Treatment of Hypercholesterolemia Unknown status NCT01849185 Phase 4
2 Tolerability and Lipid Lowering Effect of Weekly/Biweekly Crestor in Statin Intolerant Patients Treated With Zetia Unknown status NCT00972829 Phase 4 Rosuvastatin;Ezetimibe
3 To Compare the Effect of Concomitant Administration of Probucol and Cilostazol With Probucol Single Treatment on the Atherosclerosis Related Markers (Including the Thickness of the Achilles Tendon) and Evaluate Safety (Based on Atorvastatin Treatment) in Severe Hypercholesterolemia Subject Unknown status NCT02098460 Phase 4 Atorvastatin, Probucol, Cilostazol
4 A Double-blind, Randomized, Placebo-controlled, Two-period Crossover Trial to Assess the Effects of 4 g/d P-OM3 on LDL-C and Other Aspects of the Fasting Lipid Profile in Subjects With Primary Hypercholesterolemia Unknown status NCT00746811 Phase 4 P-OM3;Placebo
5 The Impact of the Time of Drug Administration on the Effectiveness of Combined Treatment of Hypercholesterolemia With ROSuvastatin and EZEtimibe (ROSEZE) - A Single-center, Crossover, Open-label Study Unknown status NCT02772640 Phase 4 Rosuvastatin and Ezetimibe morning or evening administration
6 Safety and Efficacy of Fluvastatin in Heart Transplant Recipients Unknown status NCT00421005 Phase 4 fluvastatin
7 A Randomized Controlled Trial Comparing Usual Care With a Multifactorial Intensified Intervention on Cardiovascular Risk Factors in Subjects With Arterial Peripheral Disease With and Without Diabetes. The Taulí Intervention Program (TIP). Unknown status NCT00144937 Phase 4 Stepwise therapy for dyslipidemia, hypertension and diabetes
8 The Effects of Simvastatin in Patients With Chronic Obstructive Pulmonary Disease Unknown status NCT00680641 Phase 4 Simvastatin;Placebo
9 Effect of Atorvastatin on Inflammatory Atherosclerotic Plaques Assessed by FDG-PET Imaging Unknown status NCT00920101 Phase 4 Atorvastatin
10 Phase 4 Clinical Trial to Examine the Role of Rosuvastatin and Exercise Treatment in Modulating Inflammatory Response in Hypercholesterolemic Subjects Unknown status NCT00295373 Phase 4 Rosuvastatin
11 The Metabolic and Anti-Inflammatory Effects of Combined Ezetimibe and Simvastin Therapy, as Compared to Simvastatin Alone, in Patients With Chronic Proteinuric Nephropathy Unknown status NCT00861731 Phase 4 simvastatin;EZE/simvastatin;EZE/simvastatin
12 Comparing a Nucleoside-Analogue-Sparing Regimen and a Protease-Inhibitor-Sparing Regimen in Patients With HIV. Influence on Morphological and Metabolic Disorders. A Randomized, Open-Label Multicenter Trial. Unknown status NCT00135460 Phase 4 nucleoside analogue sparing HAART regimen
13 Pravastatin for Acute Myocardial Infarction With Minimally to Mildly Increased Levels of Serum Cholesterol Study That Evaluates the Effects of Pravastatin for Acute Myocardial Infarction With LDL-Cholesterol Levels of 70-129 mg/dl Unknown status NCT00688922 Phase 4 Pravastatin
14 A Multicenter, Eight Weeks Treatment, Single Step Titration, Open Label Study Assessing the Percentage of Korean Diabetic Dyslipidemic Patients Achieving LDL Cholesterol Target With Atorvastatin Starting Dose 10mg, 20mg, 40mg Unknown status NCT01239849 Phase 4 Atorvastatin, 10mg, 20mg, 40mg
15 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
16 A Multicenter, Open Labeled, Cross-Over Designed Prospective Study Evaluating the Effects of Lipid Lowering Treatment on Steroid Synthesis Unknown status NCT00433823 Phase 4 Atorvastatin, Ezetimibe
17 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
18 Dose Related Decrease in Triglycerides in Patients With Hypertriglyceridemia and Treated With Lovaza. Unknown status NCT00934219 Phase 4 Omega-3-Acid Ethyl Esters
19 Effects on Oxidative Stress, Coagulation, Platelet Activation and Inflammatory Indexes of Atorvastatin and/or Aspirin Treatment in Patients at High Risk of Vascular Events Unknown status NCT01322711 Phase 4 Atorvastatin;Placebo
20 The Effects of Pravastatin and Rosuvastatin on the Tissue Characteristics and Morphology of Coronary Plaques in Patients With Stable Angina Pectoris Unknown status NCT01325818 Phase 4 pravastatin, rosuvastatin
21 A Randomised Trial Investigating the Cardiovascular Effects of Agomelatine and Escitalopram in Patients With Major Depressive Disorder. Unknown status NCT01483053 Phase 4 Agomelatine;Escitalopram
22 A Phase IV 48 Week, Open Label, Pilot Study of Darunavir Boosted by Cobicistat in Combination With Rilpivirine to Treat HIV+ Naïve Subjects (PREZENT) Unknown status NCT02404233 Phase 4 darunavir/cobicistat;rilpivirine
23 Living With Statins - The Impact of Cholesterol Lowering Drugs on Health, Lifestyle and Well-being Unknown status NCT02796378 Phase 4 Training+Simvastatin+Q10-placebo;Training+Simvastatin-placebo+Q10-placebo;Training+Simvastatin+Q10
24 Pilot Study of Ezetimibe for Chronic Hepatitis C Virus (HCV) Infection in Liver Transplant Candidates (EZE-2) Unknown status NCT02768545 Phase 4 Ezetimibe
25 Efficacy and Safety of Certican® in Combination With Myfortic® in Adult Renal Allograft Recipients Following Calcineurin Inhibitor Withdrawal at Week 16 Compared to Patients Who Are Maintained on Tacrolimus and Myfortic® Unknown status NCT01399242 Phase 4 Certican
26 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
27 A PROSPECTIVE, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED TRIAL OF THE SUPPLEMENTATION WITH KIOLIC® IN PATIENTS WITH DIAGNOSIS OF METABOLIC SYNDROME TO IMPROVE ENDOTHELIAL FUNCTION AND INFLAMMATORY STATE. "KYMES" Unknown status NCT01168700 Phase 4 aged garlic extract;Placebo
28 A Phase 4 Randomised, Double-Blind, Placebo-Controlled, Parallel-Group, MultiCentre Study of Colesevelam as Add-on Therapy in Patients With Familial Hypercholesterolaemia Completed NCT00655265 Phase 4 Colesevelam hydrochloride film-coated tablets;Placebo
29 A Multicenter, Open-label, Single-arm, Study to Evaluate Safety and Tolerability of Repatha in Patients With Homozygous Familial Hypercholesterolemia (HoFH) in India Completed NCT03403374 Phase 4 Repatha® (evolocumab)
30 Post Marketing Surveillance Study for LDL Apheresis Using H.E.L.P. Therapy Completed NCT00916643 Phase 4
31 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
32 A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Effect of Praluent on Neurocognitive Function in Patients With Heterozygous Familial Hypercholesterolemia or With Non-Familial Hypercholesterolemia at High and Very High Cardiovascular Risk Completed NCT02957682 Phase 4 Praluent (Alirocumab);Placebo
33 Randomized, Double-blind, Placebo-controlled Efficacy and Safety Study of Colesevelam HCl Administered to Pediatric Patients With Heterozygous Familial Hypercholesterolemia on a Stable Dose of Statins or Treatment Naive to Lipid-lowering Therapy Completed NCT00145574 Phase 4 colesevelam HCl;placebo
34 Evaluation of the Efficacy and Safety of Rosuvastatin 5 mg Versus Pravastatin 40 mg and Atorvastatin 10 mg in Subjects With Type IIa and IIb Hypercholesterolaemia Completed NCT00631189 Phase 4 Rosuvastatin;Pravastatin;Atorvastatin
35 The Effect of a Red Rice and Olive Extract Nutrition Supplement on Cholesterol Completed NCT02065180 Phase 4
36 Evaluate The Lipid-Lowering Efficacy and Safety of Vytorin in Comparison With Atorvastatin in Hypercholesterolaemic Patients With Coronary Artery Disease Completed NCT00442897 Phase 4 simvastatin (+) ezetimibe;Comparator: atorvastatin
37 SCH 58235: A Multicenter, Randomised, Parallel Groups, Placebo-Controlled Study Comparing The Efficacy, Safety, and Tolerability Of The Daily Co-Administration of Ezetimibe 10 mg With Simvastatin 20 mg vs Ezetimibe Placebo With Simvastatin 20 mg in Untreated Subjects With Primary Hypercholesterolaemia And Coronary Heart Disease (Protocol P03435) Completed NCT00653835 Phase 4 Ezetimibe + Simvastatin;Simvastatin
38 SCH 58235: A Multicentre, Randomised, Parallel Group, Placebo-Controlled Study Comparing the Efficacy, Safety, And Tolerability of the Daily Co-Administration of Ezetimibe 10 mg With Atorvastatin 10 mg vs. Ezetimibe Placebo With Atorvastatin 10 mg in Untreated Subjects With Primary Hypercholesterolaemia and Coronary Heart Disease Completed NCT00653796 Phase 4 Ezetimibe + Atorvastatin;Atorvastatin
39 Rosuvastatin Versus Protease Inhibitor Switching for Hypercholesterolaemia in HIV-infected Adults Completed NCT01935674 Phase 4 Switch ritonavir-boosted PI;Continue Ritonavir-boosted PI+Rosuvastatin
40 Effect of Plant Stanol Ester-Containing Spread Based on Extra Virgin Olive Oil on Estimated Cardiovascular Risk, and Lipid-Inflammatory-Haemostatic Factors in Comparison to Mediterranean Diet: A Randomized, Placebo-Controlled Trial. Completed NCT00793364 Phase 4
41 Vascular and Metabolic Effects of Rosuvastatin Completed NCT01660919 Phase 4 placebo;rosuvastatin
42 An Open-Label, Single-Arm, Prospective Study to Evaluate the Lipid-Lowering Efficacy and Safety of Simvastatin 40 Mg Tablet in Patients With Hypercholesterolemia Completed NCT00398294 Phase 4 MK0733, simvastatin / Duration of Treatment: 12 Weeks
43 Glucosamine Sulphate and Hypercholesterolaemia Completed NCT00251069 Phase 4 Glucosamine sulphate
44 Effects of Atorvastatin on Adiponectin Levels and Insulin Sensitivity In Hypercholesterolemic Patients Completed NCT00745836 Phase 4 statin
45 Vascular and Metabolic Effects of Vytorin vs Simvastatin Completed NCT01666067 Phase 4 placebo;vytorin;simvastatin
46 Vascular and Metabolic Effects of Vytorin Completed NCT01660945 Phase 4 placebo;vytorin
47 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
48 A Phase IV, Multicenter, Randomized, Open Label Study To Evaluate The Efficacy And Safety Of Atorvastatin Versus Simvastatin In Type 2 Diabetic Subjects With Hypercholesterolemia Completed NCT00141141 Phase 4 Atorvastatin;Simvastatin
49 A Multi-center, Randomized, Open-labeled Clinical Trial to Evaluate Efficacy and Safety of Lipinon® 20mg Versus Lipitor® 20mg in Korean Patients With Hypercholesterolemia Completed NCT01081548 Phase 4 atorvastatin;atorvastatin
50 A Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study of the Efficacy and Safety of WelChol® in Combination With Zetia® Compared to Zetia® Alone in Patients With Primary Hypercholesterolemia Completed NCT00185107 Phase 4 Colesevelam Hydrochloride;Ezetimibe;Simvastatin

Search NIH Clinical Center for Hypercholesterolemia, Familial, 1

Genetic Tests for Hypercholesterolemia, Familial, 1

Genetic tests related to Hypercholesterolemia, Familial, 1:

# Genetic test Affiliating Genes
1 Familial Hypercholesterolemia 1 29 APOA2 EPHX2 GHR LDLR PPP1R17
2 Hypercholesterolemia 29
3 Hypercholesterolemia, Susceptibility to 29

Anatomical Context for Hypercholesterolemia, Familial, 1

MalaCards organs/tissues related to Hypercholesterolemia, Familial, 1:

40
Heart, Endothelial, Liver, Kidney, Testes, Brain, Bone

Publications for Hypercholesterolemia, Familial, 1

Articles related to Hypercholesterolemia, Familial, 1:

(show top 50) (show all 24723)
# Title Authors PMID Year
1
Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site. 6 61 56
20703241 2010
2
Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing. 61 56 6
18400033 2008
3
A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing. 6 56 54
17335829 2007
4
Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: intrafamilial association study in an eight-generation hyperlipidemic kindred. 56 6 61
14673705 2004
5
Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: intra-familial association study in an eight-generation hyperlipidemic kindred. 56 6 61
12910492 2003
6
Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred. 6 56 61
12522687 2002
7
Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population. 6 56 61
11491306 2001
8
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). 56 61 6
10422803 1999
9
Unusual xanthomas in a young patient with heterozygous familial hypercholesterolemia and type III hyperlipoproteinemia. 61 56 6
8911609 1996
10
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 61 56 6
1301956 1992
11
The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. 61 56 6
2088165 1990
12
Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia. 56 6 61
2777800 1989
13
The longest-lived patient with homozygous familial hypercholesterolemia secondary to a defect in internalization of the LDL receptor. 56 6 61
3425583 1987
14
Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia. 6 56 61
3020025 1986
15
The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors. 61 6 56
3955657 1986
16
Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain. 6 56 61
3924410 1985
17
THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA. 61 56 6
14209286 1964
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Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. 61 6
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FH-Pyrgos: a novel mutation in the promoter (-45delT) of the low-density lipoprotein receptor gene associated with familial hypercholesterolemia. 61 6
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Ischemic optic neuropathy as the first manifestation of elevated cholesterol levels in young patients. 56 61
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A promoter SNP (-1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia. 61 6
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