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FHCL3
MCID: HYP272
MIFTS: 44

Hypercholesterolemia, Familial, 3 (FHCL3)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases, Skin 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 13
Hypercholesterolemia, Autosomal Dominant, 3 57 74 29 6
Hchola3 57 74
Hypercholesterolemia, Autosomal Dominant, 3; Hchola3 57
Hypercholesterolemia, Autosomal Dominant, Type 3 40
Low Density Lipoprotein Cholesterol Level Qtl 1 57
Familial Hypercholesterolemia 3 74
Hypercholesterolemia 44
Fhcl3 57
Fh3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
elevated cholesterol levels evident before age 20


HPO:

32
hypercholesterolemia, familial, 3:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

MeSH 44 D006937
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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)

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 heart, endothelial and liver, and related phenotype is hypercholesterolemia.

UniProtKB/Swiss-Prot : 74 Hypercholesterolemia, autosomal dominant, 3: A familial condition characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very- low-density lipoproteins.

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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 537)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial, 1 13.0
2 familial hypercholesterolemia 12.9
3 hypercholesterolemia, familial, 4 12.8
4 hypercholesterolemia, familial, 2 12.7
5 homozygous familial hypercholesterolemia 12.4
6 hypercholesterolemia suppressor 12.3
7 rare hypercholesterolemia 12.3
8 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial 12.2
9 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 12.1
10 hyperlipoproteinemia, type iii 12.1
11 hyperlipidemia, familial combined, 3 11.9
12 hyperaldosteronism, familial, type iii 11.5
13 sitosterolemia 11.5
14 cerebrotendinous xanthomatosis 11.4
15 arcus corneae 11.4
16 coenzyme q10 deficiency disease 11.4
17 schnyder corneal dystrophy 11.3
18 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.1
19 growth hormone insensitivity with immunodeficiency 11.1
20 glycogen storage disease ixa1 11.1
21 hyperlipidemia, familial combined, 2 11.1
22 coronary artery disease, autosomal dominant, 1 11.1
23 congenital disorder of glycosylation, type iio 11.1
24 congenital disorder of glycosylation, type iip 11.1
25 spinocerebellar ataxia type 1 with axonal neuropathy 11.1
26 glycogen storage disease ixa 11.1
27 bardet-biedl syndrome 11.1
28 familial nephrotic syndrome 11.1
29 erythromelalgia 11.1
30 atherosclerosis susceptibility 10.9
31 coronary heart disease 1 10.9
32 lipid metabolism disorder 10.8
33 hypertriglyceridemia, familial 10.7
34 coronary artery anomaly 10.7
35 arteries, anomalies of 10.7
36 vascular disease 10.6
37 xanthomatosis 10.6
38 angina pectoris 10.5
39 ischemia 10.5
40 heart disease 10.5
41 arteriosclerosis 10.5
42 defective apolipoprotein b-100 10.5
43 huntington disease-like 2 10.5
44 myopathy 10.5
45 hypothyroidism 10.5
46 huntington disease-like 3 10.4
47 peripheral vascular disease 10.4
48 fatty liver disease 10.4
49 familial hyperlipidemia 10.4
50 body mass index quantitative trait locus 1 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:

32
# Description HPO Frequency HPO Source Accession
1 hypercholesterolemia 32 obligate (100%) HP:0003124

Symptoms via clinical synopsis from OMIM:

57
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
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 513)
# 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
Clonidine Approved Phase 4 4205-90-7 2803
4
Atenolol Approved Phase 4 29122-68-7 2249
5
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
6
Thrombin Approved, Investigational Phase 4
7
Citalopram Approved Phase 4 59729-33-8 2771
8
Cobicistat Approved Phase 4 1004316-88-4
9
Rilpivirine Approved Phase 4 500287-72-9
10
Darunavir Approved Phase 4 206361-99-1, 635728-49-3 213039
11
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 5282452 6366718
12
Pravastatin Approved Phase 4 81093-37-0 54687
13
Amlodipine Approved Phase 4 88150-42-9 2162
14
Lovastatin Approved, Investigational Phase 4 75330-75-5 53232
15
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
16
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
17
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
18
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
19
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
20
Zinc Approved, Investigational Phase 4 7440-66-6 32051
21
Nevirapine Approved Phase 4 129618-40-2 4463
22
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
23
Methyltestosterone Approved Phase 4 58-18-4 6010
24
Testosterone enanthate Approved Phase 4 315-37-7 9416
25
Testosterone Approved, Experimental, Investigational Phase 4 481-30-1, 58-22-0 6013 10204
26
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
27
Histamine Approved, Investigational Phase 4 51-45-6 774
28
leucovorin Approved Phase 4 58-05-9 143 6006
29
Racepinephrine Approved Phase 4 329-65-7 838
30
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
31
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
32
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
33
Lopinavir Approved Phase 4 192725-17-0 92727
34
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
35
Bexarotene Approved, Investigational Phase 4 153559-49-0 82146
36
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
37
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
38
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
39
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
40
Pentetic acid Approved Phase 4 67-43-6
41
Edetic Acid Approved, Vet_approved Phase 4 60-00-4, 62-33-9 6049
42
Insulin glargine Approved Phase 4 160337-95-1
43
Repaglinide Approved, Investigational Phase 4 135062-02-1 65981
44
Dulaglutide Approved, Investigational Phase 4 923950-08-7
45
Insulin Aspart Approved Phase 4 116094-23-6 16132418
46
Gemfibrozil Approved Phase 4 25812-30-0 3463
47
Norepinephrine Approved Phase 4 51-41-2 439260
48
Dobutamine Approved Phase 4 34368-04-2 36811
49
Ziprasidone Approved Phase 4 146939-27-7 60854
50
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795

Interventional clinical trials:

(show top 50) (show all 1240)
# 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 Effect of Atorvastatin on Inflammatory Atherosclerotic Plaques Assessed by FDG-PET Imaging Unknown status NCT00920101 Phase 4 Atorvastatin
9 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
10 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
11 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
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 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
14 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
15 Dose Related Decrease in Triglycerides in Patients With Hypertriglyceridemia and Treated With Lovaza. Unknown status NCT00934219 Phase 4 Omega-3-Acid Ethyl Esters
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 Nephropathy in Type 2 Diabetes: Effects of an Intensive Multifactorial Intervention Trial on Cardio-renal Events. Unknown status NCT00535925 Phase 4 current therapy;irbesartan;ramipril;hydrochlorothiazide;furosemide;amlodipine;atenolol;doxazosin;clonidine;insulin;simvastatin;fibrate;erythropoietin;aspirin
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 A Randomised Trial Investigating the Cardiovascular Effects of Agomelatine and Escitalopram in Patients With Major Depressive Disorder. Unknown status NCT01483053 Phase 4 Agomelatine;Escitalopram
21 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
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 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
25 Pilot Study of Ezetimibe for Chronic Hepatitis C Virus (HCV) Infection in Liver Transplant Candidates (EZE-2) Unknown status NCT02768545 Phase 4 Ezetimibe
26 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
27 Vascular and Metabolic Effects of Rosuvastatin Completed NCT01660919 Phase 4 placebo;rosuvastatin
28 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
29 Effects of Atorvastatin on Adiponectin Levels and Insulin Sensitivity In Hypercholesterolemic Patients Completed NCT00745836 Phase 4 statin
30 Vascular and Metabolic Effects of Vytorin vs Simvastatin Completed NCT01666067 Phase 4 placebo;vytorin;simvastatin
31 Vascular and Metabolic Effects of Vytorin Completed NCT01660945 Phase 4 placebo;vytorin
32 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
33 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
34 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
35 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
36 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
37 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
38 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
39 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
40 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)
41 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
42 Begin With The Right Patients With Dual-Inhibition Action Therapy Through Vytorin for Newly Diagnosed Dyslipidemia Patients Completed NCT00654628 Phase 4 ezetimibe (+) simvastatin
43 Nattokinase Supplementation and Hemostatic Factors Completed NCT02913170 Phase 4
44 Comparative Efficacy of a Vytorin 10/80 Tablet Split Into 4 (Estimated Dose Ezetimibe 2.5 + Simvastatin 20) Versus Simvastatin 20 Milligrams on LDL Cholesterol Completed NCT00762164 Phase 4 Vytorin;Simvastatin
45 A Prospective Comparative Clinical Study to Identify Efficacy and Safety of Pitavastatin in Patients With a Metabolic Syndrome Completed NCT00640276 Phase 4 pitavastatin
46 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
47 A 6-Week, Randomised, Open-Label, Parallel Group, Multi-Centre Study to Compare the Efficacy of Rosuvastatin 10mg With Atorvastatin 10mg in the Treatment of Non-Diabetic Metabolic Syndrome Subjects With Raised LDL-C Completed NCT00335699 Phase 4 Rosuvastatin
48 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
49 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
50 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

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 Hypercholesterolemia, Autosomal Dominant, 3 29 PCSK9
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Anatomical Context for Hypercholesterolemia, Familial, 3

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

41
Heart, Endothelial, Liver, Skin, Kidney, Bone, Prostate
Sources

Publications for Hypercholesterolemia, Familial, 3

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Articles related to Hypercholesterolemia, Familial, 3:

(show all 17)
# Title Authors PMID Year
1
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. 38 8 71
12730697 2003
2
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. 8 71
15654334 2005
3
A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. 8 71
14727179 2004
4
Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred. 8 71
10764678 2000
5
Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred. 8 71
10357843 1999
6
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 71
27854360 2017
7
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 71
25356965 2015
8
Familial Hypercholesterolemia 71
24404629 2014
9
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 71
23788249 2013
10
Polymorphisms associated with cholesterol and risk of cardiovascular events. 71
18354102 2008
11
Molecular basis for LDL receptor recognition by PCSK9. 71
18250299 2008
12
Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote. 71
16909389 2006
13
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. 71
16554528 2006
14
Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia. 71
15772090 2005
15
Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9. 71
15166014 2004
16
A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32. 8
10205269 1999
17
Proprotein convertase subtilisin kexin 9: the third locus implicated in autosomal dominant hypercholesterolemia. 38
15767856 2005
Sources

Variations for Hypercholesterolemia, Familial, 3

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ClinVar genetic disease variations for Hypercholesterolemia, Familial, 3:

6 (show top 50) (show all 113)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PCSK9 NM_174936.3(PCSK9): c.646T> C (p.Phe216Leu) single nucleotide variant Pathogenic rs28942112 1:55518073-55518073 1:55052400-55052400
2 PCSK9 NM_174936.3(PCSK9): c.1120G> T (p.Asp374Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs137852912 1:55523127-55523127 1:55057454-55057454
3 PCSK9 NM_174936.3(PCSK9): c.381T> A (p.Ser127Arg) single nucleotide variant Pathogenic/Likely pathogenic rs28942111 1:55509689-55509689 1:55044016-55044016
4 PCSK9 NM_174936.3(PCSK9): c.323T> G (p.Leu108Arg) single nucleotide variant Pathogenic/Likely pathogenic rs1057519691 1:55509631-55509631 1:55043958-55043958
5 PCSK9 NM_174936.3(PCSK9): c.385G> A (p.Asp129Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs778738291 1:55509693-55509693 1:55044020-55044020
6 PCSK9 NM_174936.3(PCSK9): c.616G> A (p.Glu206Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs753857795 1:55518043-55518043 1:55052370-55052370
7 PCSK9 NM_174936.3(PCSK9): c.103G> T (p.Asp35Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs764603059 1:55505613-55505613 1:55039940-55039940
8 PCSK9 NM_174936.3(PCSK9): c.835C> A (p.Pro279Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs72646509 1:55521701-55521701 1:55056028-55056028
9 PCSK9 NM_174936.3(PCSK9): c.1856A> C (p.Gln619Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs28362277 1:55527222-55527222 1:55061549-55061549
10 PCSK9 NM_174936.3(PCSK9): c.2038C> T (p.Arg680Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs533555352 1:55529216-55529216 1:55063543-55063543
11 PCSK9 NM_174936.3(PCSK9): c.1394C> T (p.Ser465Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs778849441 1:55524211-55524211 1:55058538-55058538
12 PCSK9 NM_174936.3(PCSK9): c.1354+9G> T single nucleotide variant Conflicting interpretations of pathogenicity rs72646516 1:55523891-55523891 1:55058218-55058218
13 PCSK9 NM_174936.3(PCSK9): c.386A> G (p.Asp129Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs1553135971 1:55509694-55509694 1:55044021-55044021
14 PCSK9 NM_174936.3(PCSK9): c.1487G> A (p.Arg496Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139669564 1:55524304-55524304 1:55058631-55058631
15 PCSK9 NM_174936.3(PCSK9): c.290G> A (p.Arg97His) single nucleotide variant Conflicting interpretations of pathogenicity rs376385276 1:55509598-55509598 1:55043925-55043925
16 PCSK9 NM_174936.3(PCSK9): c.1251C> A (p.His417Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143275858 1:55523779-55523779 1:55058106-55058106
17 PCSK9 NM_174936.3(PCSK9): c.137G> T (p.Arg46Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs11591147 1:55505647-55505647 1:55039974-55039974
18 PCSK9 NM_174936.3(PCSK9): c.644G> A (p.Arg215His) single nucleotide variant Conflicting interpretations of pathogenicity rs794728683 1:55518071-55518071 1:55052398-55052398
19 PCSK9 NM_174936.3(PCSK9): c.1405C> T (p.Arg469Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141502002 1:55524222-55524222 1:55058549-55058549
20 PCSK9 NM_174936.3(PCSK9): c.1486C> T (p.Arg496Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs374603772 1:55524303-55524303 1:55058630-55058630
21 PCSK9 NM_174936.3(PCSK9): c.720C> T (p.Gly240=) single nucleotide variant Conflicting interpretations of pathogenicity rs41297883 1:55518385-55518385 1:55052712-55052712
22 PCSK9 NM_174936.3(PCSK9): c.1171C> A (p.His391Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs146471967 1:55523178-55523178 1:55057505-55057505
23 PCSK9 NM_174936.3(PCSK9): c.1274A> G (p.Asn425Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs28362261 1:55523802-55523802 1:55058129-55058129
24 PCSK9 NM_174936.3(PCSK9): c.1026A> G (p.Gln342=) single nucleotide variant Conflicting interpretations of pathogenicity rs509504 1:55523033-55523033 1:55057360-55057360
25 PCSK9 NM_174936.3(PCSK9): c.1327G> A (p.Ala443Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs28362263 1:55523855-55523855 1:55058182-55058182
26 PCSK9 NM_174936.3(PCSK9): c.45_47GCT[9] (p.Leu22_Leu23dup) short repeat Conflicting interpretations of pathogenicity rs35574083 1:55505570-55505575 1:55039897-55039902
27 PCSK9 NM_174936.3(PCSK9): c.45_47GCT[6] (p.Leu23del) short repeat Conflicting interpretations of pathogenicity rs35574083 1:55505573-55505575 1:55039900-55039902
28 PCSK9 NM_174936.3(PCSK9): c.705C> T (p.Ser235=) single nucleotide variant Conflicting interpretations of pathogenicity rs7552471 1:55518370-55518370 1:55052697-55052697
29 PCSK9 NM_174936.3(PCSK9): c.709C> T (p.Arg237Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs148195424 1:55518374-55518374 1:55052701-55052701
30 PCSK9 NM_174936.3(PCSK9): c.1399C> G (p.Pro467Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs772677312 1:55524216-55524216 1:55058543-55058543
31 PCSK9 NM_174936.3(PCSK9): c.399+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs376653409 1:55509711-55509711 1:55044038-55044038
32 PCSK9 NM_174936.3(PCSK9): c.94G> A (p.Glu32Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs564427867 1:55505604-55505604 1:55039931-55039931
33 PCSK9 NM_174936.3(PCSK9): c.627C> T (p.Pro209=) single nucleotide variant Conflicting interpretations of pathogenicity rs375892354 1:55518054-55518054 1:55052381-55052381
34 PCSK9 NM_174936.3(PCSK9): c.996+8del deletion Conflicting interpretations of pathogenicity rs768213924 1:55521870-55521870 1:55056197-55056197
35 PCSK9 NM_174936.3(PCSK9): c.1658A> G (p.His553Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28362270 1:55525313-55525313 1:55059640-55059640
36 PCSK9 NM_174936.3(PCSK9): c.141C> T (p.Ser47=) single nucleotide variant Conflicting interpretations of pathogenicity rs28385701 1:55505651-55505651 1:55039978-55039978
37 PCSK9 NM_174936.3(PCSK9): c.657+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs11800243 1:55518093-55518093 1:55052420-55052420
38 PCSK9 NM_174936.3(PCSK9): c.753C> T (p.Arg251=) single nucleotide variant Conflicting interpretations of pathogenicity rs28385710 1:55518418-55518418 1:55052745-55052745
39 PCSK9 NM_174936.3(PCSK9): c.1484G> A (p.Arg495Gln) single nucleotide variant Uncertain significance rs370574590 1:55524301-55524301 1:55058628-55058628
40 PCSK9 NM_174936.3(PCSK9): c.1978G> A (p.Asp660Asn) single nucleotide variant Uncertain significance rs72646530 1:55529156-55529156 1:55063483-55063483
41 PCSK9 NM_174936.3(PCSK9): c.2002A> G (p.Ser668Gly) single nucleotide variant Uncertain significance rs775077080 1:55529180-55529180 1:55063507-55063507
42 PCSK9 NM_174936.3(PCSK9): c.1069C> T (p.Arg357Cys) single nucleotide variant Uncertain significance 1:55523076-55523076 1:55057403-55057403
43 PCSK9 NM_174936.3(PCSK9): c.412C> T (p.Pro138Ser) single nucleotide variant Uncertain significance 1:55512208-55512208 1:55046535-55046535
44 PCSK9 NM_174936.3(PCSK9): c.317G> T (p.Gly106Val) single nucleotide variant Uncertain significance 1:55509625-55509625 1:55043952-55043952
45 PCSK9 NM_174936.3(PCSK9): c.441_442CT[1] (p.Ser148fs) short repeat Uncertain significance 1:55512237-55512238 1:55046564-55046565
46 PCSK9 NM_174936.3(PCSK9): c.464C> T (p.Pro155Leu) single nucleotide variant Uncertain significance 1:55512260-55512260 1:55046587-55046587
47 PCSK9 NM_174936.3(PCSK9): c.721G> A (p.Val241Met) single nucleotide variant Uncertain significance 1:55518386-55518386 1:55052713-55052713
48 PCSK9 NM_174936.3(PCSK9): c.1207G> A (p.Glu403Lys) single nucleotide variant Uncertain significance 1:55523735-55523735 1:55058062-55058062
49 PCSK9 NM_174936.3(PCSK9): c.1492G> A (p.Glu498Lys) single nucleotide variant Uncertain significance 1:55524309-55524309 1:55058636-55058636
50 PCSK9 NM_174936.3(PCSK9): c.45_47GCT[11] (p.Leu20_Leu23dup) short repeat Uncertain significance 1:55505552-55505553 1:55039882-55039884

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

74
# 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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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
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31 HMDB
32 HPO
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