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

Aliases & Classifications for Hypercholesterolemia, Familial, 3

MalaCards integrated aliases for Hypercholesterolemia, Familial, 3:

Name: Hypercholesterolemia, Familial, 3 56 13
Hypercholesterolemia, Autosomal Dominant, 3 56 73 29 6
Hchola3 56 73
Hypercholesterolemia, Autosomal Dominant, 3; Hchola3 56
Hypercholesterolemia, Autosomal Dominant, Type 3 39
Low Density Lipoprotein Cholesterol Level Qtl 1 56
Familial Hypercholesterolemia 3 73
Hypercholesterolemia 43
Fhcl3 56
Fh3 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
elevated cholesterol levels evident before age 20


HPO:

31
hypercholesterolemia, familial, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 603776
OMIM Phenotypic Series 56 PS143890
MeSH 43 D006937
SNOMED-CT via HPO 68 13644009 166830008 263681008

Summaries for Hypercholesterolemia, Familial, 3

OMIM : 56 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 : 73 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.

Related Diseases for Hypercholesterolemia, Familial, 3

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 528)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial, 1 12.9
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 1 11.4
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 heart disease 10.5
39 ischemia 10.5
40 angina pectoris 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 myocardial infarction 10.4
48 peripheral vascular disease 10.4
49 fatty liver disease 10.4
50 fatty liver disease, nonalcoholic 1 10.4

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



Diseases related to Hypercholesterolemia, Familial, 3

Symptoms & Phenotypes for Hypercholesterolemia, Familial, 3

Human phenotypes related to Hypercholesterolemia, Familial, 3:

31
# Description HPO Frequency HPO Source Accession
1 hypercholesterolemia 31 obligate (100%) HP:0003124

Symptoms via clinical synopsis from OMIM:

56
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

Drugs & Therapeutics for Hypercholesterolemia, Familial, 3

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

(show top 50) (show all 507)
# 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
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
4
Clonidine Approved Phase 4 4205-90-7 2803
5
Atenolol Approved Phase 4 29122-68-7 2249
6
Thrombin Approved, Investigational Phase 4
7
Citalopram Approved Phase 4 59729-33-8 2771
8
Darunavir Approved Phase 4 206361-99-1, 635728-49-3 213039
9
Rilpivirine Approved Phase 4 500287-72-9
10
Cobicistat Approved Phase 4 1004316-88-4
11
Pitavastatin Approved Phase 4 147526-32-7, 147511-69-1 6366718 5282452
12
Pravastatin Approved Phase 4 81093-37-0 54687
13
Lovastatin Approved, Investigational Phase 4 75330-75-5 53232
14
Amlodipine Approved Phase 4 88150-42-9 2162
15
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
16
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
17
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
18
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
19
Loperamide Approved Phase 4 53179-11-6 3955
20
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
21
Metformin Approved Phase 4 657-24-9 4091 14219
22
Zinc Approved, Investigational Phase 4 7440-66-6 32051
23
Methyltestosterone Approved Phase 4 58-18-4 6010
24
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
25
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 6013 10204
26
Testosterone enanthate Approved Phase 4 315-37-7 9416
27
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
28
Nevirapine Approved Phase 4 129618-40-2 4463
29
Histamine Approved, Investigational Phase 4 51-45-6 774
30
leucovorin Approved Phase 4 58-05-9 6006 143
31
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
32
Racepinephrine Approved Phase 4 329-65-7 838
33
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
34
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
35
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
36
Lopinavir Approved Phase 4 192725-17-0 92727
37
Bexarotene Approved, Investigational Phase 4 153559-49-0 82146
38
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
39
Edetic Acid Approved, Vet_approved Phase 4 62-33-9, 60-00-4 6049
40
Pentetic acid Approved Phase 4 67-43-6
41
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
42
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
43
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
44
Gemfibrozil Approved Phase 4 25812-30-0 3463
45
Repaglinide Approved, Investigational Phase 4 135062-02-1 65981
46
Insulin aspart Approved Phase 4 116094-23-6 16132418
47
Insulin glargine Approved Phase 4 160337-95-1
48
Dulaglutide Approved, Investigational Phase 4 923950-08-7
49
Norepinephrine Approved Phase 4 51-41-2 439260
50
Dobutamine Approved Phase 4 34368-04-2 36811

Interventional clinical trials:

(show top 50) (show all 1272)
# 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 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
7 Safety and Efficacy of Fluvastatin in Heart Transplant Recipients Unknown status NCT00421005 Phase 4 fluvastatin
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 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
12 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
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 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
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 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
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 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 Completed NCT01660945 Phase 4 placebo;vytorin
31 Vascular and Metabolic Effects of Vytorin vs Simvastatin Completed NCT01666067 Phase 4 placebo;vytorin;simvastatin
32 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
33 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
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 Multicenter Clinical Trial to Compare the Efficacy and Safety Between Rosuvastatin/Ezetimibe Combination and Monotherapy of Rosuvastatin in Patients With Diabetes Mellitus and Hypercholesterolemia Completed NCT03217409 Phase 4 Rosuvastatin+Ezetimibe;Rosuvastatin
38 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
39 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
40 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
41 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
42 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)
43 Begin With The Right Patients With Dual-Inhibition Action Therapy Through Vytorin for Newly Diagnosed Dyslipidemia Patients Completed NCT00654628 Phase 4 ezetimibe (+) simvastatin
44 Nattokinase Supplementation and Hemostatic Factors Completed NCT02913170 Phase 4
45 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
46 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
47 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
48 A Prospective Comparative Clinical Study to Identify Efficacy and Safety of Pitavastatin in Patients With a Metabolic Syndrome Completed NCT00640276 Phase 4 pitavastatin
49 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
50 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

Search NIH Clinical Center for Hypercholesterolemia, Familial, 3

Cochrane evidence based reviews: hypercholesterolemia

Genetic Tests for Hypercholesterolemia, Familial, 3

Genetic tests related to Hypercholesterolemia, Familial, 3:

# Genetic test Affiliating Genes
1 Hypercholesterolemia, Autosomal Dominant, 3 29 PCSK9

Anatomical Context for Hypercholesterolemia, Familial, 3

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

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

Publications for Hypercholesterolemia, Familial, 3

Articles related to Hypercholesterolemia, Familial, 3:

(show all 17)
# Title Authors PMID Year
1
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. 61 56 6
12730697 2003
2
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. 6 56
15654334 2005
3
A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. 6 56
14727179 2004
4
Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred. 56 6
10764678 2000
5
Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred. 56 6
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. 6
27854360 2017
7
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
8
Familial Hypercholesterolemia 6
24404629 2014
9
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
10
Polymorphisms associated with cholesterol and risk of cardiovascular events. 6
18354102 2008
11
Molecular basis for LDL receptor recognition by PCSK9. 6
18250299 2008
12
Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote. 6
16909389 2006
13
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. 6
16554528 2006
14
Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia. 6
15772090 2005
15
Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9. 6
15166014 2004
16
A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32. 56
10205269 1999
17
Proprotein convertase subtilisin kexin 9: the third locus implicated in autosomal dominant hypercholesterolemia. 61
15767856 2005

Variations for Hypercholesterolemia, Familial, 3

ClinVar genetic disease variations for Hypercholesterolemia, Familial, 3:

6 (show top 50) (show all 114) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PCSK9 NM_174936.3(PCSK9):c.646T>C (p.Phe216Leu)SNV Pathogenic 2874 rs28942112 1:55518073-55518073 1:55052400-55052400
2 PCSK9 NM_174936.3(PCSK9):c.1120G>T (p.Asp374Tyr)SNV Pathogenic/Likely pathogenic 2875 rs137852912 1:55523127-55523127 1:55057454-55057454
3 PCSK9 NM_174936.3(PCSK9):c.323T>G (p.Leu108Arg)SNV Pathogenic/Likely pathogenic 375849 rs1057519691 1:55509631-55509631 1:55043958-55043958
4 PCSK9 NM_174936.3(PCSK9):c.381T>A (p.Ser127Arg)SNV Pathogenic/Likely pathogenic 2873 rs28942111 1:55509689-55509689 1:55044016-55044016
5 PCSK9 NM_174936.3(PCSK9):c.290G>A (p.Arg97His)SNV Conflicting interpretations of pathogenicity 468297 rs376385276 1:55509598-55509598 1:55043925-55043925
6 PCSK9 NM_174936.3(PCSK9):c.386A>G (p.Asp129Gly)SNV Conflicting interpretations of pathogenicity 438332 rs1553135971 1:55509694-55509694 1:55044021-55044021
7 PCSK9 NM_174936.3(PCSK9):c.1487G>A (p.Arg496Gln)SNV Conflicting interpretations of pathogenicity 438338 rs139669564 1:55524304-55524304 1:55058631-55058631
8 PCSK9 NM_174936.3(PCSK9):c.385G>A (p.Asp129Asn)SNV Conflicting interpretations of pathogenicity 375844 rs778738291 1:55509693-55509693 1:55044020-55044020
9 PCSK9 NM_174936.3(PCSK9):c.616G>A (p.Glu206Lys)SNV Conflicting interpretations of pathogenicity 375845 rs753857795 1:55518043-55518043 1:55052370-55052370
10 PCSK9 NM_174936.3(PCSK9):c.103G>T (p.Asp35Tyr)SNV Conflicting interpretations of pathogenicity 375848 rs764603059 1:55505613-55505613 1:55039940-55039940
11 PCSK9 NM_174936.3(PCSK9):c.835C>A (p.Pro279Thr)SNV Conflicting interpretations of pathogenicity 375846 rs72646509 1:55521701-55521701 1:55056028-55056028
12 PCSK9 NM_174936.3(PCSK9):c.1856A>C (p.Gln619Pro)SNV Conflicting interpretations of pathogenicity 375852 rs28362277 1:55527222-55527222 1:55061549-55061549
13 PCSK9 NM_174936.3(PCSK9):c.2038C>T (p.Arg680Trp)SNV Conflicting interpretations of pathogenicity 375843 rs533555352 1:55529216-55529216 1:55063543-55063543
14 PCSK9 NM_174936.3(PCSK9):c.1394C>T (p.Ser465Leu)SNV Conflicting interpretations of pathogenicity 403292 rs778849441 1:55524211-55524211 1:55058538-55058538
15 PCSK9 NM_174936.3(PCSK9):c.1354+9G>TSNV Conflicting interpretations of pathogenicity 413316 rs72646516 1:55523891-55523891 1:55058218-55058218
16 PCSK9 NM_174936.3(PCSK9):c.644G>A (p.Arg215His)SNV Conflicting interpretations of pathogenicity 201127 rs794728683 1:55518071-55518071 1:55052398-55052398
17 PCSK9 NM_174936.3(PCSK9):c.1405C>T (p.Arg469Trp)SNV Conflicting interpretations of pathogenicity 201128 rs141502002 1:55524222-55524222 1:55058549-55058549
18 PCSK9 NM_174936.3(PCSK9):c.1486C>T (p.Arg496Trp)SNV Conflicting interpretations of pathogenicity 201129 rs374603772 1:55524303-55524303 1:55058630-55058630
19 PCSK9 NM_174936.3(PCSK9):c.720C>T (p.Gly240=)SNV Conflicting interpretations of pathogenicity 242028 rs41297883 1:55518385-55518385 1:55052712-55052712
20 PCSK9 NM_174936.3(PCSK9):c.1658A>G (p.His553Arg)SNV Conflicting interpretations of pathogenicity 242027 rs28362270 1:55525313-55525313 1:55059640-55059640
21 PCSK9 NM_174936.3(PCSK9):c.141C>T (p.Ser47=)SNV Conflicting interpretations of pathogenicity 262902 rs28385701 1:55505651-55505651 1:55039978-55039978
22 PCSK9 NM_174936.3(PCSK9):c.657+9G>ASNV Conflicting interpretations of pathogenicity 262906 rs11800243 1:55518093-55518093 1:55052420-55052420
23 PCSK9 NM_174936.3(PCSK9):c.753C>T (p.Arg251=)SNV Conflicting interpretations of pathogenicity 262907 rs28385710 1:55518418-55518418 1:55052745-55052745
24 PCSK9 NM_174936.3(PCSK9):c.1026A>G (p.Gln342=)SNV Conflicting interpretations of pathogenicity 262899 rs509504 1:55523033-55523033 1:55057360-55057360
25 PCSK9 NM_174936.3(PCSK9):c.1327G>A (p.Ala443Thr)SNV Conflicting interpretations of pathogenicity 262900 rs28362263 1:55523855-55523855 1:55058182-55058182
26 PCSK9 NM_174936.3(PCSK9):c.60_65dupGCTGCTshort repeat Conflicting interpretations of pathogenicity 265916 rs35574083 1:55505570-55505575 1:55039897-55039902
27 PCSK9 NM_174936.3(PCSK9):c.63_65delGCTshort repeat Conflicting interpretations of pathogenicity 265917 rs35574083 1:55505573-55505575 1:55039900-55039902
28 PCSK9 NM_174936.3(PCSK9):c.705C>T (p.Ser235=)SNV Conflicting interpretations of pathogenicity 265932 rs7552471 1:55518370-55518370 1:55052697-55052697
29 PCSK9 NM_174936.3(PCSK9):c.1399C>G (p.Pro467Ala)SNV Conflicting interpretations of pathogenicity 265944 rs772677312 1:55524216-55524216 1:55058543-55058543
30 PCSK9 NM_174936.3(PCSK9):c.399+4A>GSNV Conflicting interpretations of pathogenicity 297694 rs376653409 1:55509711-55509711 1:55044038-55044038
31 PCSK9 NM_174936.3(PCSK9):c.94G>A (p.Glu32Lys)SNV Conflicting interpretations of pathogenicity 297692 rs564427867 1:55505604-55505604 1:55039931-55039931
32 PCSK9 NM_174936.3(PCSK9):c.627C>T (p.Pro209=)SNV Conflicting interpretations of pathogenicity 297695 rs375892354 1:55518054-55518054 1:55052381-55052381
33 PCSK9 NM_174936.3(PCSK9):c.996+8deldeletion Conflicting interpretations of pathogenicity 297698 rs768213924 1:55521870-55521870 1:55056197-55056197
34 PCSK9 NM_174936.3(PCSK9):c.1274A>G (p.Asn425Ser)SNV Conflicting interpretations of pathogenicity 297699 rs28362261 1:55523802-55523802 1:55058129-55058129
35 PCSK9 NM_174936.3(PCSK9):c.1251C>A (p.His417Gln)SNV Conflicting interpretations of pathogenicity 369875 rs143275858 1:55523779-55523779 1:55058106-55058106
36 PCSK9 NM_174936.3(PCSK9):c.1171C>A (p.His391Asn)SNV Conflicting interpretations of pathogenicity 496557 rs146471967 1:55523178-55523178 1:55057505-55057505
37 PCSK9 NM_174936.3(PCSK9):c.100G>A (p.Glu34Lys)SNV Uncertain significance 536202 rs371030381 1:55505610-55505610 1:55039937-55039937
38 PCSK9 NM_174936.3(PCSK9):c.2014G>A (p.Val672Met)SNV Uncertain significance 536203 rs892210400 1:55529192-55529192 1:55063519-55063519
39 PCSK9 NM_174936.3(PCSK9):c.1069C>T (p.Arg357Cys)SNV Uncertain significance 575758 1:55523076-55523076 1:55057403-55057403
40 PCSK9 NM_174936.3(PCSK9):c.412C>T (p.Pro138Ser)SNV Uncertain significance 568998 1:55512208-55512208 1:55046535-55046535
41 PCSK9 NM_174936.3(PCSK9):c.317G>T (p.Gly106Val)SNV Uncertain significance 582851 1:55509625-55509625 1:55043952-55043952
42 PCSK9 NM_174936.3(PCSK9):c.443_444delCTshort repeat Uncertain significance 617897 1:55512237-55512238 1:55046564-55046565
43 PCSK9 NM_174936.3(PCSK9):c.464C>T (p.Pro155Leu)SNV Uncertain significance 627676 rs775429340 1:55512260-55512260 1:55046587-55046587
44 PCSK9 NM_174936.3(PCSK9):c.721G>A (p.Val241Met)SNV Uncertain significance 630150 rs147478188 1:55518386-55518386 1:55052713-55052713
45 PCSK9 NM_174936.3(PCSK9):c.1207G>A (p.Glu403Lys)SNV Uncertain significance 630157 rs778562344 1:55523735-55523735 1:55058062-55058062
46 PCSK9 NM_174936.3(PCSK9):c.1492G>A (p.Glu498Lys)SNV Uncertain significance 630163 rs145468572 1:55524309-55524309 1:55058636-55058636
47 PCSK9 NM_174936.3(PCSK9):c.54_65dupGCTGCTGCTGCTshort repeat Uncertain significance 662731 1:55505552-55505553 1:55039882-55039884
48 PCSK9 NM_174936.3(PCSK9):c.1099G>T (p.Asp367Tyr)SNV Uncertain significance 646467 1:55523106-55523106 1:55057433-55057433
49 PCSK9 NM_174936.3(PCSK9):c.1445A>G (p.Glu482Gly)SNV Uncertain significance 651477 1:55524262-55524262 1:55058589-55058589
50 PCSK9 NM_174936.3(PCSK9):c.1447C>G (p.Leu483Val)SNV Uncertain significance 654272 1:55524264-55524264 1:55058591-55058591

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

Expression for Hypercholesterolemia, Familial, 3

Search GEO for disease gene expression data for Hypercholesterolemia, Familial, 3.

Pathways for Hypercholesterolemia, Familial, 3

GO Terms for Hypercholesterolemia, Familial, 3

Sources for Hypercholesterolemia, Familial, 3

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