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FHCL3
MCID: HYP272
MIFTS: 45

Hypercholesterolemia, Familial, 3 (FHCL3)

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hypercholesterolemia, Familial, 3

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MalaCards integrated aliases for Hypercholesterolemia, Familial, 3:

Name: Hypercholesterolemia, Familial, 3 57 73 13
Hypercholesterolemia, Autosomal Dominant, 3 57 73
Familial Hypercholesterolemia 3 29 6
Hchola3 57 73
Fhcl3 57 73
Hypercholesterolemia, Autosomal Dominant, 3; Hchola3 57
Hypercholesterolemia, Autosomal Dominant, Type 3 39
Low Density Lipoprotein Cholesterol Level Qtl 1 57
Hypercholesterolemia 44
Fh3 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
elevated cholesterol levels evident before age 20


HPO:

31
hypercholesterolemia, familial, 3:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

OMIM® 57 603776
OMIM Phenotypic Series 57 PS143890
MeSH 44 D006937
Sources

Summaries for Hypercholesterolemia, Familial, 3

About this section
OMIM® : 57 Familial hypercholesterolemia-3 (FHCL3) is an autosomal dominant disorder of lipid metabolism characterized by a selective increase of low density lipoprotein particles in plasma, giving rise to tendon and skin xanthomas, arcus corneae, and coronary artery disease (summary by Varret et al., 1999). For a general description and a discussion of genetic heterogeneity of hypercholesterolemia, see 143890. Varret et al. (1999) reported a large 3-generation French family (HC2) in which 7 individuals had hypercholesterolemia. All affected members had levels of total cholesterol above the 97th percentile when compared with age- and sex-matched French individuals. The proband was a 36-year-old woman, ascertained at age 17 years with 3.32 g/l total cholesterol, 2.36 g/l LDL-C, 0.48 g/l HDL-C, 0.61 g/l triglycerides, and arcus corneae. Her sister, aged 40 years, was ascertained at age 20 years with similar lipid levels, arcus corneae, tendon xanthomas, and xanthelasmas. Haddad et al. (1999) reported a large Utah kindred (K1173) segregating hypercholesterolemia. In this pedigree, the LDL levels (mean, 237 +/-70) were similar to those of familial hypercholesterolemia pedigrees with mutations in the LDL receptor gene (FHCL1; 606945), and penetrance was complete even at young ages. Triglyceride levels were significantly lower than in FHCL1 pedigrees, but mean age and body mass index were also lower. There were no differences in the frequency of tendon xanthomas or coronary artery disease. (603776) (Updated 05-Mar-2021)

MalaCards based summary : Hypercholesterolemia, Familial, 3, also known as hypercholesterolemia, autosomal dominant, 3, is related to hypercholesterolemia, familial, 1 and familial hypercholesterolemia. An important gene associated with Hypercholesterolemia, Familial, 3 is PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9). The drugs Cilostazol and Probucol have been mentioned in the context of this disorder. Affiliated tissues include endothelial, liver and bone, and related phenotypes are hypercholesterolemia and xanthelasma

UniProtKB/Swiss-Prot : 73 Hypercholesterolemia, familial, 3: A form of hypercholesterolemia, a disorder of lipoprotein metabolism 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. FHCL3 inheritance is autosomal dominant.

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Related Diseases for Hypercholesterolemia, Familial, 3

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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, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 543)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial, 1 11.9
2 familial hypercholesterolemia 11.9
3 hypercholesterolemia, familial, 4 11.8
4 hypercholesterolemia, familial, 2 11.6
5 homozygous familial hypercholesterolemia 11.4
6 hyperlipidemia, familial combined, 3 11.3
7 hyperaldosteronism, familial, type iii 11.2
8 hyperlipoproteinemia, type iii 11.1
9 lipoprotein quantitative trait locus 11.1
10 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial 11.0
11 schnyder corneal dystrophy 11.0
12 hypercholesterolemia suppressor 10.9
13 rare hypercholesterolemia 10.9
14 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 10.9
15 cerebrotendinous xanthomatosis 10.9
16 coronary heart disease 1 10.9
17 coenzyme q10 deficiency disease 10.9
18 atherosclerosis susceptibility 10.9
19 sitosterolemia 2 10.9
20 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.8
21 sitosterolemia 1 10.8
22 glycogen storage disease ixa1 10.8
23 hyperlipidemia, familial combined, 2 10.8
24 coronary artery disease, autosomal dominant, 1 10.8
25 congenital disorder of glycosylation, type iio 10.8
26 congenital disorder of glycosylation, type iip 10.8
27 spinocerebellar ataxia type 1 with axonal neuropathy 10.8
28 glycogen storage disease ixa 10.8
29 bardet-biedl syndrome 10.8
30 familial nephrotic syndrome 10.8
31 erythromelalgia 10.8
32 growth hormone insensitivity with immunodeficiency 10.8
33 lipid metabolism disorder 10.8
34 hypertriglyceridemia, familial 10.7
35 arteries, anomalies of 10.6
36 vascular disease 10.6
37 heart disease 10.5
38 xanthomatosis 10.5
39 ischemia 10.5
40 non-alcoholic fatty liver disease 10.5
41 angina pectoris 10.5
42 myocardial infarction 10.5
43 arteriosclerosis 10.4
44 diabetes mellitus 10.4
45 defective apolipoprotein b-100 10.4
46 type 2 diabetes mellitus 10.4
47 huntington disease-like 2 10.4
48 myopathy 10.4
49 fatty liver disease, nonalcoholic 1 10.4
50 hypothyroidism 10.4

Graphical network of the top 20 diseases related to Hypercholesterolemia, Familial, 3:



Diseases related to Hypercholesterolemia, Familial, 3
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Symptoms & Phenotypes for Hypercholesterolemia, Familial, 3

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Human phenotypes related to Hypercholesterolemia, Familial, 3:

31
# Description HPO Frequency HPO Source Accession
1 hypercholesterolemia 31 obligate (100%) HP:0003124
2 xanthelasma 31 HP:0001114
3 corneal arcus 31 HP:0001084
4 tendon xanthomatosis 31 HP:0010874
5 abnormal ldl cholesterol concentration 31 HP:0031886

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Heart:
coronary artery disease

Skin Nails Hair Skin:
xanthelasmas
tendinous xanthomata

Head And Neck Eyes:
arcus corneae

Laboratory Abnormalities:
high total cholesterol high ld cholesterol

Clinical features from OMIM®:

603776 (Updated 05-Mar-2021)

Sources

Drugs & Therapeutics for Hypercholesterolemia, Familial, 3

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Drugs for Hypercholesterolemia, Familial, 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 359)
# 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
Thrombin Approved, Investigational Phase 4
4
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
5
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
6
Pravastatin Approved Phase 4 81093-37-0 54687
7
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
8
Testosterone Approved, Investigational Phase 4 58-22-0 6013
9
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
10
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
11
Doxazosin Approved Phase 4 74191-85-8 3157
12
Ramipril Approved Phase 4 87333-19-5 5362129
13
Atenolol Approved Phase 4 29122-68-7 2249
14
Clonidine Approved Phase 4 4205-90-7 2803
15
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
16
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
17
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
18
Fenofibrate Approved Phase 4 49562-28-9 3339
19
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
20
Loperamide Approved Phase 4 53179-11-6 3955
21
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
22
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
23
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
24
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
25
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
26
Nevirapine Approved Phase 4 129618-40-2 4463
27
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
28
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
29
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
30
Lopinavir Approved Phase 4 192725-17-0 92727
31
Zidovudine Approved Phase 4 30516-87-1 35370
32
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
33
Colestipol Approved Phase 4 26658-42-4
34
Amlodipine Approved Phase 4 88150-42-9 2162
35
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
36
Evolocumab Approved Phase 4 1256937-27-5
37
Ezetimibe Approved Phase 4 163222-33-1 150311
38
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
39
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
40
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
41
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 4 303-98-0 5281915
42
Trichostatin A Experimental Phase 4 58880-19-6
43 Phosphodiesterase Inhibitors Phase 4
44 Phosphodiesterase 3 Inhibitors Phase 4
45 Hypoglycemic Agents Phase 4
46 Anti-Infective Agents Phase 4
47 Vitamins Phase 4
48 Angiotensinogen Phase 4
49 Giapreza Phase 4
50 Angiotensin Receptor Antagonists Phase 4

Interventional clinical trials:

(show top 50) (show all 1036)
# Name Status NCT ID Phase Drugs
1 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
2 Effect of Atorvastatin on Inflammatory Atherosclerotic Plaques Assessed by FDG-PET Imaging Unknown status NCT00920101 Phase 4 Atorvastatin
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 Probiotic BIO-25 as a Supplement to Statins for the Treatment of Hypercholesterolemia Unknown status NCT01849185 Phase 4
5 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
6 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
7 Tolerability and Lipid Lowering Effect of Weekly/Biweekly Crestor in Statin Intolerant Patients Treated With Zetia Unknown status NCT00972829 Phase 4 Rosuvastatin;Ezetimibe
8 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
9 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
10 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
11 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
12 Safety and Efficacy of Fluvastatin in Heart Transplant Recipients Unknown status NCT00421005 Phase 4 fluvastatin
13 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
14 SLIM: Combined Effects of Slo-Niacin and Atorvastatin on Lipoproteins and Inflammatory Markers Completed NCT00194402 Phase 4 Slo-Niacin, atorvastatin
15 Statin Therapy is Associated With Low Testosterone and Sexual Function in Men With Type 2 Diabetes Completed NCT02612714 Phase 4 Rosuvastatin
16 Effects of Ezetimibe in Association With Statins on Postprandial Lipemia in Type 2 Diabetic Patients Completed NCT00699023 Phase 4 ezetimibe tablets;simvastatin tablets;placebo
17 Assessment of the Efficacy and Tolerability of Two Formulations of Atorvastatin In Korean Adult With Hypercholesterolemia : A Multicenter, Prospective, Open-Label, Randomized, Trial Completed NCT01285544 Phase 4 Atorvastatin (Lipinon);Atorvastatin (Lipitor)
18 Effect of Crestor on the Kinetics of Plasma Apolipoproteins: Dose-Response Study Completed NCT00214617 Phase 4 Rosuvastatin at 5 mg/day and 40 mg/day
19 A Multicenter, Randomized, Parallel Groups, Placebo-Controlled Study Comparing the Efficacy, Safety, and Tolerability of the Daily Co-Administration of Ezetimibe 10 mg or Ezetimibe Placebo to Ongoing Treatment With Atorvastatin 10 mg in Subjects With Primary Hypercholesterolemia and Coronary Heart Disease Completed NCT00202904 Phase 4 ezetimibe;placebo
20 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
21 A Prospective Comparative Clinical Study to Identify Efficacy and Safety of Pitavastatin in Patients With a Metabolic Syndrome Completed NCT00640276 Phase 4 pitavastatin
22 Evaluation of a Primary Treatment Algorithm Using Combination Therapy for the Management of Patients With Hypertension and Hypercholesterolemia Completed NCT00637078 Phase 4
23 Effect of Crocus Sativus (Saffron) and Berberis Vulgaris (Barberry Fruit) on Metabolic Syndrome Completed NCT01625442 Phase 4 Saffron tablet;Barberry tablet;Placebo
24 A Multi-center, Randomized, Open-labeled Clinical Trial to Evaluate Efficacy and Safety of Atorva® 20mg Versus Lipitor® 20mg in Korean Patients With Hypercholesterolemia Completed NCT01624207 Phase 4 generic formulation of atorvastatin (Atorva®);branded formulation of atorvastatin (Lipitor®)
25 THE EFFECT OF SIMVASTATIN VERSUS COMBINED SIMVASTATIN/EZETIMIBE TREATMENT ON THE CONCENTRATION OF SMALL DENSE LOW-DENSITY LIPOPROTEIN PARTICLES IN PATIENTS WITH PRIMARY HYPERCHOLESTEROLEMIA Completed NCT00932620 Phase 4 SIMVASTATIN 40 mg;SIMVASTATIN/EZETIMIBE 10/10 mg
26 A 8-week, Single Center, Randomized, Open-label, Parallel-group, Non-inferiority Clinical Trial to Evaluate Efficacy and Safety of ROVASRO 10mg Versus CRESTOR 10mg in Hypercholesterolemic Patients Completed NCT03949374 Phase 4 CRESTOR, reference formulation of rosuvastatin;ROVASRO, generic formulation of rosuvastatin
27 A Multi-Center, Open Label Study To Evaluate Long Term Safety Of Caduet In Patient With Both Of Hypertension And Hypercholesterolemia, Or With Both Of Angina Pectoris And Hypercholesterolemia Completed NCT01190007 Phase 4 Caduet
28 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
29 The Use of Simvastatin Gel With Perforated Resorbable Membranes in the Treatment of Intrabony Defects in Chronic Periodontitis Patients (Clinical and Biochemical Study) Completed NCT03419429 Phase 4 Simvastatin
30 Nephropathy in Type 2 Diabetes: Effects of an Intensive Multifactorial Intervention Trial on Cardio-renal Events. Completed NCT00535925 Phase 4 SoC therapy;irbesartan;ramipril;hydrochlorothiazide;furosemide;amlodipine;atenolol;doxazosin;clonidine;insulin;simvastatin;fibrate;erythropoietin;aspirin
31 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
32 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
33 Additive Cholesterol Lowering Effect by Concomitant Treatment With Psyllium Husks and Isolated Soy Protein in Addition to Heart-healthy Diet in Hypercholesterolemia Completed NCT01251991 Phase 4 Psyllium husks
34 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 Completed NCT02772640 Phase 4 Rosuvastatin and Ezetimibe morning or evening administration
35 A Multicenter, Randomized, Parallel-Groups, Double-Blind Placebo-Controlled Study Comparing the Efficacy, Safety, and Tolerability of Administration of Ezetimibe/Simvastatin Tablet 10/20 mg Versus Doubling the Dose of Simvastatin 20 mg [Simvastatin 40 mg] in Subjects With Primary Hypercholesterolemia and Coronary Heart Disease Completed NCT00423579 Phase 4 Ezetimibe/Simvastatin 10/20 mg;simvastatin 40 mg
36 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
37 A Single Center, Randomized, Parallel Groups, Placebo-Controlled Study Comparing The Efficacy, Safety, And Tolerability Of The Daily Co-administration Of Ezetimibe 10 Mg Or Ezetimibe Placebo To Ongoing Treatment With Atorvastatin 10 Mg In Subjects With Primary Hypercholesterolemia And Multiple Coronary Heart Disease Risk Factors in Indonesian Population. Completed NCT00319449 Phase 4 Ezetimibe;Placebo;Atorvastatin 10 mg
38 A Multicenter, Randomized, Open-label Study to Evaluate the Lipid-Altering Efficacy and Safety of Ezetimibe (+) Simvastatin Versus Atorvastatin in Patients With Primary Hypercholesterolemia Completed NCT00166504 Phase 4 ezetimibe (+) simvastatin;atorvastatin
39 Effect On Serum Cholesterol Of Dairy Products With Addition Of Esterified Phytosterols In Chilean Subjects With Hypercholesterolemia Completed NCT02644109 Phase 4
40 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
41 A Randomized, Multicenter, Open, Parallel, Phase 4 Study to Compare the Efficacy and Safety of Rosuvastatin/Ezetimibe Combination Therapy vs Rosuvastatin Monotherapy in Korean Patients With Type 2 Diabetes Mellitus and Hypercholesterolemia Completed NCT03446261 Phase 4 Rosuvamibe® Tab;Monorova® Tab
42 Evaluation of the Effects of Simvastatin 40 Mg on Lipid Profiles and Specified Circulatory Parameters in Normotensive Hypercholesterolemia Patients(MK-0733-265) Completed NCT00397826 Phase 4 MK0733
43 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
44 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
45 Randomized Parallel Group Trial Of The Efficacy And Safety Of Ezetimibe With A Statin Versus Statin Dose Doubling In Patients With Persistent Primary Hypercholesterolemia Completed NCT00652847 Phase 4 ezetimibe;statins
46 A Multicenter, Randomized, Open-labeled, Parallel Group Comparison Study to Evaluate the Efficacy, Safety and Tolerability of Ezetimibe Added to Ongoing Statin Therapy Versus Doubling the Dose of Ongoing Statin in the Treatment of Hypercholesterolemia. Completed NCT00652327 Phase 4 Ezetimibe + Statin (simvastatin, atorvastatin, or pravastatin);Double Statin (simvastatin, atorvastatin, or pravastatin)
47 A Multicenter, Randomized, Parallel Groups, Placebo-Controlled Study Comparing The Efficacy, Safety, And Tolerability Of The Daily Co-administration Of Ezetimibe 10 Mg Or Ezetimibe Placebo To Ongoing Treatment With Simvastatin 20 Mg In Subjects With Primary Hypercholesterolemia And Coronary Heart Disease Completed NCT00651274 Phase 4 Ezetimibe;Placebo
48 A Multicenter, Double-Blind, Randomized Study to Evaluate the Lipid-Altering Efficacy, Safety, and Tolerability of Ezetimibe Coadministered With Simvastatin Versus Simvastatin Monotherapy in African-American Subjects With Primary Hypercholesterolemia Completed NCT00650663 Phase 4 Ezetimibe + Simvastatin;Simvastatin
49 A 12-week, Multicenter, Double-blind, Double-dummy, Randomized, Active-controlled, Parallel-group Study to Assess the Efficacy and Safety of Fluvastatin Sodium Extended Release Tablets 80 mg Once Daily Compared to Fluvastatin Sodium Immediate Release Capsules 40 mg Twice Daily (BID) in Chinese Patients With Primary Hypercholesterolemia or Mixed Dyslipidemia at Moderate or High Cardiovascular Risk Who Did Not Achieve Their Lipid Goals When Treated With Fluvastatin Sodium Immediate Release Capsules 40 mg QD Completed NCT01551173 Phase 4 Fluvastatin sodium
50 Examination of the Effect of Ezetimibe on Glucose Metabolism - Randomized, Double-blind, Placebo-controlled Study in Type 2 Diabetes Mellitus Patients With Hypercholesterolemia - Phase 4, Protocol No. 367 (Also Known as SCH 58235, P06541) Completed NCT01611883 Phase 4 Ezetimibe;Placebo

Search NIH Clinical Center for Hypercholesterolemia, Familial, 3

Cochrane evidence based reviews: hypercholesterolemia

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Genetic Tests for Hypercholesterolemia, Familial, 3

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Genetic tests related to Hypercholesterolemia, Familial, 3:

# Genetic test Affiliating Genes
1 Familial Hypercholesterolemia 3 29 PCSK9
Sources

Anatomical Context for Hypercholesterolemia, Familial, 3

About this section

MalaCards organs/tissues related to Hypercholesterolemia, Familial, 3:

40
Endothelial, Liver, Bone, Kidney, Whole Blood, Skeletal Muscle, Colon
Sources

Publications for Hypercholesterolemia, Familial, 3

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Articles related to Hypercholesterolemia, Familial, 3:

(show all 24)
# Title Authors PMID Year
1
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. 6 57
15654334 2005
2
A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. 6 57
14727179 2004
3
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. 6 57
12730697 2003
4
Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred. 57 6
10764678 2000
5
Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred. 6 57
10357843 1999
6
Polymorphisms associated with cholesterol and risk of cardiovascular events. 6
18354102 2008
7
Molecular basis for LDL receptor recognition by PCSK9. 6
18250299 2008
8
Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote. 6
16909389 2006
9
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. 6
16554528 2006
10
Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia. 6
15772090 2005
11
Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9. 6
15166014 2004
12
A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32. 57
10205269 1999
13
Regulation of the Fasciola hepatica newly excysted juvenile cathepsin L3 (FhCL3) by its propeptide: a proposed 'clamp-like' mechanism of binding and inhibition. 61
33287692 2020
14
Cathepsin L3 From Fasciola hepatica Induces NLRP3 Inflammasome Alternative Activation in Murine Dendritic Cells. 61
30967874 2019
15
Sex and vaccination: Insights from female rats vaccinated with juvenile-specific proteases from Fasciola hepatica. 61
29773143 2018
16
Fibrinogen and fibrin are novel substrates for Fasciola hepatica cathepsin L peptidases. 61
29414671 2018
17
Vaccination against Fasciola hepatica using cathepsin L3 and B3 proteases delivered alone or in combination. 61
29329618 2018
18
Identification of Chalcones as Fasciola hepatica Cathepsin L Inhibitors Using a Comprehensive Experimental and Computational Approach. 61
27463369 2016
19
Tegument Glycoproteins and Cathepsins of Newly Excysted Juvenile Fasciola hepatica Carry Mannosidic and Paucimannosidic N-glycans. 61
27139907 2016
20
Insights into the Interactions of Fasciola hepatica Cathepsin L3 with a Substrate and Potential Novel Inhibitors through In Silico Approaches. 61
25978322 2015
21
Characterization and differential expression of cathepsin L3 alleles from Fasciola hepatica. 61
23770026 2013
22
Collagenolytic activities of the major secreted cathepsin L peptidases involved in the virulence of the helminth pathogen, Fasciola hepatica. 61
21483711 2011
23
The major cathepsin L secreted by the invasive juvenile Fasciola hepatica prefers proline in the S2 subsite and can cleave collagen. 61
19383516 2009
24
An integrated transcriptomics and proteomics analysis of the secretome of the helminth pathogen Fasciola hepatica: proteins associated with invasion and infection of the mammalian host. 61
19443417 2009
Sources

Variations for Hypercholesterolemia, Familial, 3

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ClinVar genetic disease variations for Hypercholesterolemia, Familial, 3:

6 (show top 50) (show all 227)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PCSK9 NM_174936.3(PCSK9):c.426C>G (p.Tyr142Ter) SNV association 2876 rs67608943 1:55512222-55512222 1:55046549-55046549
2 PCSK9 NM_174936.3(PCSK9):c.2037C>A (p.Cys679Ter) SNV association 2877 rs28362286 1:55529215-55529215 1:55063542-55063542
3 PCSK9 NM_174936.3(PCSK9):c.137G>T (p.Arg46Leu) SNV association 2878 1:55505647-55505647 1:55039974-55039974
4 PCSK9 NM_174936.3(PCSK9):c.287_289GCC[1] (p.Arg97del) Microsatellite association 2880 rs587776545 1:55509593-55509595 1:55043920-55043922
5 PCSK9 NM_174936.3(PCSK9):c.381T>A (p.Ser127Arg) SNV Pathogenic 2873 rs28942111 1:55509689-55509689 1:55044016-55044016
6 PCSK9 NM_174936.3(PCSK9):c.646T>C (p.Phe216Leu) SNV Pathogenic 2874 rs28942112 1:55518073-55518073 1:55052400-55052400
7 PCSK9 NM_174936.3(PCSK9):c.1120G>T (p.Asp374Tyr) SNV Pathogenic 2875 rs137852912 1:55523127-55523127 1:55057454-55057454
8 PCSK9 NM_174936.3(PCSK9):c.323T>G (p.Leu108Arg) SNV Pathogenic 375849 rs1057519691 1:55509631-55509631 1:55043958-55043958
9 PCSK9 NM_174936.3(PCSK9):c.103G>T (p.Asp35Tyr) SNV Pathogenic 375848 rs764603059 1:55505613-55505613 1:55039940-55039940
10 PCSK9 NM_174936.3(PCSK9):c.94G>A (p.Glu32Lys) SNV Pathogenic/Likely pathogenic 297692 1:55505604-55505604 1:55039931-55039931
11 PCSK9 NM_174936.3(PCSK9):c.385G>A (p.Asp129Asn) SNV Likely pathogenic 375844 1:55509693-55509693 1:55044020-55044020
12 PCSK9 NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) SNV Likely pathogenic 403292 rs778849441 1:55524211-55524211 1:55058538-55058538
13 PCSK9 NM_174936.3(PCSK9):c.644G>A (p.Arg215His) SNV Likely pathogenic 201127 rs794728683 1:55518071-55518071 1:55052398-55052398
14 PCSK9 NM_174936.3(PCSK9):c.709C>T (p.Arg237Trp) SNV Conflicting interpretations of pathogenicity 265933 rs148195424 1:55518374-55518374 1:55052701-55052701
15 PCSK9 NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) SNV Conflicting interpretations of pathogenicity 201129 rs374603772 1:55524303-55524303 1:55058630-55058630
16 PCSK9 NM_174936.3(PCSK9):c.277C>T (p.Arg93Cys) SNV Conflicting interpretations of pathogenicity 413319 rs151193009 1:55509585-55509585 1:55043912-55043912
17 PCSK9 NM_174936.3(PCSK9):c.399+4A>G SNV Conflicting interpretations of pathogenicity 297694 rs376653409 1:55509711-55509711 1:55044038-55044038
18 PCSK9 NM_174936.3(PCSK9):c.835C>A (p.Pro279Thr) SNV Conflicting interpretations of pathogenicity 375846 rs72646509 1:55521701-55521701 1:55056028-55056028
19 PCSK9 NM_174936.3(PCSK9):c.1405C>T (p.Arg469Trp) SNV Conflicting interpretations of pathogenicity 201128 1:55524222-55524222 1:55058549-55058549
20 PCSK9 NM_174936.3(PCSK9):c.616G>A (p.Glu206Lys) SNV Conflicting interpretations of pathogenicity 375845 rs753857795 1:55518043-55518043 1:55052370-55052370
21 PCSK9 NM_174936.3(PCSK9):c.1773C>G (p.His591Gln) SNV Conflicting interpretations of pathogenicity 375850 rs529912877 1:55527139-55527139 1:55061466-55061466
22 PCSK9 NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) SNV Conflicting interpretations of pathogenicity 297699 rs28362261 1:55523802-55523802 1:55058129-55058129
23 PCSK9 NM_174936.3(PCSK9):c.1227C>T (p.Ala409=) SNV Conflicting interpretations of pathogenicity 413314 rs146924245 1:55523755-55523755 1:55058082-55058082
24 PCSK9 NM_174936.3(PCSK9):c.1487G>A (p.Arg496Gln) SNV Conflicting interpretations of pathogenicity 438338 rs139669564 1:55524304-55524304 1:55058631-55058631
25 PCSK9 NM_174936.3(PCSK9):c.799+8A>G SNV Conflicting interpretations of pathogenicity 536214 rs748933873 1:55518472-55518472 1:55052799-55052799
26 PCSK9 NM_174936.3(PCSK9):c.1944C>T (p.Tyr648=) SNV Conflicting interpretations of pathogenicity 630172 rs138178437 1:55529122-55529122 1:55063449-55063449
27 PCSK9 NM_174936.3(PCSK9):c.1929C>T (p.His643=) SNV Conflicting interpretations of pathogenicity 510674 rs145770391 1:55529107-55529107 1:55063434-55063434
28 PCSK9 NM_174936.3(PCSK9):c.1560C>T (p.Val520=) SNV Conflicting interpretations of pathogenicity 630491 rs542863545 1:55525215-55525215 1:55059542-55059542
29 PCSK9 NM_174936.3(PCSK9):c.10G>A (p.Val4Ile) SNV Conflicting interpretations of pathogenicity 492230 rs186669805 1:55505520-55505520 1:55039847-55039847
30 PCSK9 NM_174936.4(PCSK9):c.1099G>C (p.Asp367His) SNV Conflicting interpretations of pathogenicity 772622 rs141867978 1:55523106-55523106 1:55057433-55057433
31 PCSK9 NM_174936.3(PCSK9):c.1660C>G (p.Gln554Glu) SNV Conflicting interpretations of pathogenicity 431558 1:55525315-55525315 1:55059642-55059642
32 PCSK9 NM_174936.3(PCSK9):c.1954A>G (p.Asn652Asp) SNV Uncertain significance 297704 rs201280059 1:55529132-55529132 1:55063459-55063459
33 PCSK9 NM_174936.4(PCSK9):c.1930G>A (p.Val644Ile) SNV Uncertain significance 873657 1:55529108-55529108 1:55063435-55063435
34 PCSK9 NM_174936.4(PCSK9):c.*179T>C SNV Uncertain significance 873731 1:55529436-55529436 1:55063763-55063763
35 PCSK9 NM_174936.4(PCSK9):c.478C>T (p.Arg160Trp) SNV Uncertain significance 839590 1:55512274-55512274 1:55046601-55046601
36 PCSK9 NM_174936.4(PCSK9):c.1837C>A (p.His613Asn) SNV Uncertain significance 843634 1:55527203-55527203 1:55061530-55061530
37 PCSK9 NM_174936.4(PCSK9):c.287G>A (p.Arg96His) SNV Uncertain significance 848359 1:55509595-55509595 1:55043922-55043922
38 PCSK9 NM_174936.4(PCSK9):c.118G>A (p.Glu40Lys) SNV Uncertain significance 852560 1:55505628-55505628 1:55039955-55039955
39 PCSK9 NM_174936.3(PCSK9):c.412C>T (p.Pro138Ser) SNV Uncertain significance 568998 rs780564433 1:55512208-55512208 1:55046535-55046535
40 PCSK9 NM_174936.3(PCSK9):c.1069C>T (p.Arg357Cys) SNV Uncertain significance 575758 rs148562777 1:55523076-55523076 1:55057403-55057403
41 PCSK9 NM_174936.3(PCSK9):c.386A>G (p.Asp129Gly) SNV Uncertain significance 438332 rs1553135971 1:55509694-55509694 1:55044021-55044021
42 PCSK9 NM_174936.3(PCSK9):c.317G>T (p.Gly106Val) SNV Uncertain significance 582851 rs370751343 1:55509625-55509625 1:55043952-55043952
43 PCSK9 NM_174936.3(PCSK9):c.1180G>A (p.Gly394Ser) SNV Uncertain significance 431556 1:55523187-55523187 1:55057514-55057514
44 PCSK9 NM_174936.3(PCSK9):c.443_444delCT Microsatellite Uncertain significance 617897 rs978861923 1:55512237-55512238 1:55046564-55046565
45 PCSK9 NM_174936.3(PCSK9):c.100G>A (p.Glu34Lys) SNV Uncertain significance 536202 rs371030381 1:55505610-55505610 1:55039937-55039937
46 PCSK9 NM_174936.3(PCSK9):c.142G>A (p.Glu48Lys) SNV Uncertain significance 440707 rs1278890129 1:55505652-55505652 1:55039979-55039979
47 PCSK9 NM_174936.3(PCSK9):c.520C>T (p.Pro174Ser) SNV Uncertain significance 496561 rs533273863 1:55512316-55512316 1:55046643-55046643
48 PCSK9 NM_174936.3(PCSK9):c.2014G>A (p.Val672Met) SNV Uncertain significance 536203 rs892210400 1:55529192-55529192 1:55063519-55063519
49 PCSK9 NM_174936.3(PCSK9):c.464C>T (p.Pro155Leu) SNV Uncertain significance 627676 rs775429340 1:55512260-55512260 1:55046587-55046587
50 PCSK9 NM_174936.3(PCSK9):c.1998C>A (p.Ser666Arg) SNV Uncertain significance 644936 rs745578045 1:55529176-55529176 1:55063503-55063503

UniProtKB/Swiss-Prot genetic disease variations for Hypercholesterolemia, Familial, 3:

73
# Symbol AA change Variation ID SNP ID
1 PCSK9 p.Ser127Arg VAR_017199 rs28942111
2 PCSK9 p.Phe216Leu VAR_017200 rs28942112
3 PCSK9 p.Asp129Gly VAR_058524 rs155313597
4 PCSK9 p.Arg215His VAR_058526 rs794728683
5 PCSK9 p.Arg218Ser VAR_058527 rs970575319
6 PCSK9 p.Arg357His VAR_058530 rs370507566
7 PCSK9 p.Asp374His VAR_058531 rs137852912
8 PCSK9 p.Asp374Tyr VAR_058532 rs137852912
9 PCSK9 p.Arg496Trp VAR_058534 rs374603772

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Expression for Hypercholesterolemia, Familial, 3

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Pathways for Hypercholesterolemia, Familial, 3

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GO Terms for Hypercholesterolemia, Familial, 3

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Sources for Hypercholesterolemia, Familial, 3

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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