FHCL1
MCID: HYP836
MIFTS: 73

Hypercholesterolemia, Familial, 1 (FHCL1)

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

Aliases & Classifications for Hypercholesterolemia, Familial, 1

MalaCards integrated aliases for Hypercholesterolemia, Familial, 1:

Name: Hypercholesterolemia, Familial, 1 57 73
Hypercholesterolemia 57 74 29 54 6
Hypercholesterolemia, Susceptibility to 57 29 6
Hypercholesterolemic Xanthomatosis, Familial 57 73
Hyper-Low-Density-Lipoproteinemia 57 73
Familial Hypercholesterolemia 1 29 6
Hyperlipoproteinemia, Type Iia 57 73
Hyperlipoproteinemia, Type Ii 57 73
Ldl Receptor Disorder 57 73
Fhcl1 57 73
Fhc 57 73
Fh 57 73
Hypercholesterolemia, Familial, Due to Ldlr Defect, Modifier of 57
Hypercholesterolemia, Familial, Modifier of 57
Hypercholesterolemia, Familial, Type 1 39
Hyperlipoproteinemia Type Ii 74
Ldl Cholesterol Level Qtl2 57
Hypercholesterolaemia 6
Fhc; Fh 57

Characteristics:

OMIM®:

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

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


HPO:

31
hypercholesterolemia, familial, 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypercholesterolemia, Familial, 1

OMIM® : 57 Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (LDL), which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis). The disorder occurs in 2 clinical forms: homozygous and heterozygous (Hobbs et al., 1992). The FHCL1 phenotype can be modified by mutation in other genes. For example, in individuals with the LDLR mutation IVS14+1G-A (606945.0063), the phenotype can be altered by a SNP in the APOA2 gene (107670.0002), a SNP in the EPHX2 gene (132811.0001), or a SNP in the GHR gene (600946.0028). (143890) (Updated 05-Mar-2021)

MalaCards based summary : Hypercholesterolemia, Familial, 1, also known as hypercholesterolemia, is related to hypercholesterolemia, familial, 4 and hypercholesterolemia, familial, 2. An important gene associated with Hypercholesterolemia, Familial, 1 is LDLR (Low Density Lipoprotein Receptor), and among its related pathways/superpathways are Metabolism and Vesicle-mediated transport. The drugs Cilostazol and Probucol have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and liver, and related phenotypes are increased ldl cholesterol concentration and xanthelasma

UniProtKB/Swiss-Prot : 73 Hypercholesterolemia, familial, 1: 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. FHCL1 inheritance is autosomal dominant.

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

Related Diseases for Hypercholesterolemia, Familial, 1

Diseases in the Rare Hypercholesterolemia family:

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

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

(show top 50) (show all 598)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial, 4 33.1 PCSK9 LDLRAP1 LDLR APOB
2 hypercholesterolemia, familial, 2 32.9 LDLR APOE APOB
3 hyperlipidemia, familial combined, 3 31.8 LDLR HMGCR COG2 CETP APOE APOB
4 hyperlipoproteinemia, type iii 31.5 LPA LDLR HMGCR CETP APOE APOB
5 hypertriglyceridemia, familial 31.3 CETP APOE APOB APOA2 APOA1
6 lipoprotein quantitative trait locus 31.1 LPA LDLRAP1 LDLR HMGCR COG2 CETP
7 atherosclerosis susceptibility 31.1 PCSK9 LPA HMGCR CETP APOE APOB
8 defective apolipoprotein b-100 31.0 PCSK9 LDLR HMGCR APOE APOB
9 coronary heart disease 1 30.9 PCSK9 LPA LDLR HMGCR COG2 CETP
10 lipid metabolism disorder 30.9 LPA LDLR HMGCR COG2 CETP APOE
11 intermediate coronary syndrome 30.9 PCSK9 APOB APOA1
12 arteriosclerosis 30.8 LPA HMGCR APOE APOB APOA1
13 aortic valve disease 2 30.8 PCSK9 LPA APOB
14 coronary stenosis 30.7 PCSK9 CETP APOE APOB APOA1
15 hypothyroidism 30.7 LPA GHR CETP APOB APOA1
16 peripheral artery disease 30.7 PCSK9 APOE APOB APOA1
17 sitosterolemia 30.6 PCSK9 LDLRAP1 HMGCR APOB APOA1 ABCG8
18 aortic atherosclerosis 30.6 LPA CETP APOE ABCG8
19 hypoalphalipoproteinemia 30.5 APOA2 APOA1
20 cerebrovascular disease 30.5 LPA APOE APOB APOA1
21 acute myocardial infarction 30.5 LPA HMGCR APOB APOA1
22 generalized atherosclerosis 30.4 APOE APOB
23 heart disease 30.4 PCSK9 LPA LDLR HMGCR COG2 CETP
24 myocardial infarction 30.4 PCSK9 LPA HMGCR CETP APOE APOB
25 familial hyperlipidemia 30.4 LPA LDLR HMGCR CETP APOE APOB
26 chronic kidney disease 30.4 LPA CETP APOE APOB APOA1
27 hyperalphalipoproteinemia 1 30.4 LDLR CETP APOB APOA2 APOA1
28 stroke, ischemic 30.3 LPA LDLR HMGCR APOE APOB
29 cerebral atherosclerosis 30.2 APOE APOB APOA1
30 body mass index quantitative trait locus 11 30.2 LPA GHR CETP APOE APOB APOA2
31 kidney disease 30.2 LPA HMGCR CETP APOE APOB APOA1
32 diabetes mellitus 30.2 PCSK9 LPA HMGCR GHR COG2 CETP
33 carotid artery disease 30.1 LPA COG2 APOE APOB APOA2 APOA1
34 amyloidosis 30.1 LPA APOE APOA2 APOA1
35 peripheral vascular disease 30.1 LPA HMGCR CETP APOB APOA2 APOA1
36 cardiovascular system disease 30.1 PCSK9 LPA LDLR HMGCR COG2 CETP
37 xanthomatosis 30.0 LPA LDLRAP1 LDLR HMGCR APOE APOB
38 inherited metabolic disorder 30.0 PCSK9 HMGCR CETP APOE APOB APOA1
39 hypertension, essential 30.0 PCSK9 LPA HMGCR EPHX2 CETP APOE
40 huntington disease-like 1 29.9 LPA LDLR CETP APOE APOB APOA2
41 type 2 diabetes mellitus 29.9 PCSK9 LPA HMGCR GHR COG2 CETP
42 hypobetalipoproteinemia, familial, 1 29.9 PCSK9 LOC106560211 APOE APOB APOA1
43 vascular disease 29.9 PCSK9 LPA HMGCR CETP APOE APOB
44 hepatic lipase deficiency 29.9 APOE APOA1
45 familial lipoprotein lipase deficiency 29.9 APOE APOB APOA1
46 abetalipoproteinemia 29.9 PCSK9 CETP APOE APOB APOA1
47 smith-lemli-opitz syndrome 29.9 LDLR HMGCR APOE
48 alzheimer disease 29.8 LPA LDLR HMGCR COG2 APOE APOB
49 cholesterol ester storage disease 29.8 STAP1 LDLRAP1
50 hyperlipoproteinemia, type v 29.8 HMGCR APOE APOB APOA1

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



Diseases related to Hypercholesterolemia, Familial, 1

Symptoms & Phenotypes for Hypercholesterolemia, Familial, 1

Human phenotypes related to Hypercholesterolemia, Familial, 1:

31
# Description HPO Frequency HPO Source Accession
1 increased ldl cholesterol concentration 31 HP:0003141
2 xanthelasma 31 HP:0001114
3 coronary artery atherosclerosis 31 HP:0001677
4 corneal arcus 31 HP:0001084
5 tendon xanthomatosis 31 HP:0010874

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
xanthelasma
corneal arcus

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

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

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

Clinical features from OMIM®:

143890 (Updated 05-Mar-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.96 ABCG8 LDLR
2 Decreased LDL uptake GR00340-A-1 8.32 LDLR

MGI Mouse Phenotypes related to Hypercholesterolemia, Familial, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.28 ABCG8 APOA1 APOB APOE GHR HMGCR

Drugs & Therapeutics for Hypercholesterolemia, Familial, 1

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

(show top 50) (show all 360)
# 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
Fenofibrate Approved Phase 4 49562-28-9 3339
11
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
12
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
13
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
14
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
15
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
16
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
17
Doxazosin Approved Phase 4 74191-85-8 3157
18
Ramipril Approved Phase 4 87333-19-5 5362129
19
Atenolol Approved Phase 4 29122-68-7 2249
20
Clonidine Approved Phase 4 4205-90-7 2803
21
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
22
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
23
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
24
Glucosamine Approved, Investigational Phase 4 3416-24-8 439213
25
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
26
Loperamide Approved Phase 4 53179-11-6 3955
27
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
28
Nevirapine Approved Phase 4 129618-40-2 4463
29
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
30
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
31
Lopinavir Approved Phase 4 192725-17-0 92727
32
Zidovudine Approved Phase 4 30516-87-1 35370
33
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
34
Colestipol Approved Phase 4 26658-42-4
35
Amlodipine Approved Phase 4 88150-42-9 2162
36
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
37
Evolocumab Approved Phase 4 1256937-27-5
38
Ezetimibe Approved Phase 4 163222-33-1 150311
39
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
40
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
41
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
42
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 4 303-98-0 5281915
43
Trichostatin A Experimental Phase 4 58880-19-6
44 Phosphodiesterase Inhibitors Phase 4
45 Phosphodiesterase 3 Inhibitors Phase 4
46 Hypoglycemic 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 1043)
# 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 Phase 4 Randomised, Double-Blind, Placebo-Controlled, Parallel-Group, MultiCentre Study of Colesevelam as Add-on Therapy in Patients With Familial Hypercholesterolaemia Completed NCT00655265 Phase 4 Colesevelam hydrochloride film-coated tablets;Placebo
27 A Multicenter, Open-label, Single-arm, Study to Evaluate Safety and Tolerability of Repatha in Patients With Homozygous Familial Hypercholesterolemia (HoFH) in India Completed NCT03403374 Phase 4 evolocumab
28 Post Marketing Surveillance Study for LDL Apheresis Using H.E.L.P. Therapy Completed NCT00916643 Phase 4
29 A Double-blind, Double Dummy, Phase IV, Randomized, Multicenter, Parallel Group, Placebo Controlled Trial to Evaluate the Effect of Rosuvastatin on Triglycerides Levels in Mexican Hypertriglyceridemic Patients Completed NCT00473655 Phase 4 rosuvastatin
30 SCH 58235: A Multicentre, Randomised, Parallel Group, Placebo-Controlled Study Comparing the Efficacy, Safety, And Tolerability of the Daily Co-Administration of Ezetimibe 10 mg With Atorvastatin 10 mg vs. Ezetimibe Placebo With Atorvastatin 10 mg in Untreated Subjects With Primary Hypercholesterolaemia and Coronary Heart Disease Completed NCT00653796 Phase 4 Ezetimibe + Atorvastatin;Atorvastatin
31 The Effect of a Red Rice and Olive Extract Nutrition Supplement on Cholesterol Completed NCT02065180 Phase 4
32 SCH 58235: A Multicenter, Randomised, Parallel Groups, Placebo-Controlled Study Comparing The Efficacy, Safety, and Tolerability Of The Daily Co-Administration of Ezetimibe 10 mg With Simvastatin 20 mg vs Ezetimibe Placebo With Simvastatin 20 mg in Untreated Subjects With Primary Hypercholesterolaemia And Coronary Heart Disease (Protocol P03435) Completed NCT00653835 Phase 4 Ezetimibe + Simvastatin;Simvastatin
33 Evaluation of the Efficacy and Safety of Rosuvastatin 5 mg Versus Pravastatin 40 mg and Atorvastatin 10 mg in Subjects With Type IIa and IIb Hypercholesterolaemia Completed NCT00631189 Phase 4 Rosuvastatin;Pravastatin;Atorvastatin
34 Rosuvastatin Versus Protease Inhibitor Switching for Hypercholesterolaemia in HIV-infected Adults Completed NCT01935674 Phase 4 Switch ritonavir-boosted PI;Continue Ritonavir-boosted PI+Rosuvastatin
35 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
36 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
37 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
38 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
39 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
40 Glucosamine Sulphate and Hypercholesterolaemia Completed NCT00251069 Phase 4 Glucosamine sulphate
41 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
42 An Open-Label, Single-Arm, Prospective Study to Evaluate the Lipid-Lowering Efficacy and Safety of Simvastatin 40 Mg Tablet in Patients With Hypercholesterolemia Completed NCT00398294 Phase 4 MK0733, simvastatin / Duration of Treatment: 12 Weeks
43 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
44 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
45 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
46 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
47 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
48 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
49 Effect On Serum Cholesterol Of Dairy Products With Addition Of Esterified Phytosterols In Chilean Subjects With Hypercholesterolemia Completed NCT02644109 Phase 4
50 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

Search NIH Clinical Center for Hypercholesterolemia, Familial, 1

Genetic Tests for Hypercholesterolemia, Familial, 1

Genetic tests related to Hypercholesterolemia, Familial, 1:

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

Anatomical Context for Hypercholesterolemia, Familial, 1

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

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

Publications for Hypercholesterolemia, Familial, 1

Articles related to Hypercholesterolemia, Familial, 1:

(show top 50) (show all 25491)
# Title Authors PMID Year
1
Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site. 61 6 57
20703241 2010
2
Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing. 61 6 57
18400033 2008
3
A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing. 54 57 6
17335829 2007
4
Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: intrafamilial association study in an eight-generation hyperlipidemic kindred. 61 57 6
14673705 2004
5
Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: intra-familial association study in an eight-generation hyperlipidemic kindred. 6 57 61
12910492 2003
6
Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred. 61 6 57
12522687 2002
7
Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol. 57 6 61
11600564 2001
8
Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population. 61 57 6
11491306 2001
9
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). 57 6 61
10422803 1999
10
A xanthomatosis-susceptibility gene may exist in a Syrian family with familial hypercholesterolemia. 61 57 6
9412789 1997
11
Unusual xanthomas in a young patient with heterozygous familial hypercholesterolemia and type III hyperlipoproteinemia. 6 61 57
8911609 1996
12
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 61 57 6
1301956 1992
13
The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. 61 57 6
2088165 1990
14
Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia. 57 6 61
2777800 1989
15
The longest-lived patient with homozygous familial hypercholesterolemia secondary to a defect in internalization of the LDL receptor. 57 61 6
3425583 1987
16
Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia. 61 57 6
3020025 1986
17
The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors. 57 6 61
3955657 1986
18
Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain. 6 57 61
3924410 1985
19
Homozygous familial hypercholesterolemia mutant with a defect in internalization of low density lipoprotein. 61 57 6
6272292 1981
20
THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA. 61 57 6
14209286 1964
21
Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolaemia. 6 57
8054972 1994
22
Defective processing and binding of low-density lipoprotein receptors in fibroblasts from a familial hypercholesterolaemic subject. 6 57
2920733 1989
23
Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia. 6 57
3549308 1987
24
Identification of deletions in the human low density lipoprotein receptor gene. 6 57
3572996 1987
25
Genetics of the LDL receptor: evidence that the mutations affecting binding and internalization are allelic. 57 6
200368 1977
26
Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia. 61 6 54
20506408 2010
27
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. 6 54 61
20145306 2010
28
Characterization of novel mutations in the catalytic domain of the PCSK9 gene. 54 6 61
18266662 2008
29
Increased intestinal cholesterol absorption in autosomal dominant hypercholesterolemia and no mutations in the low-density lipoprotein receptor or apolipoprotein B genes. 57 61 54
17566095 2007
30
Effect of mutations in the PCSK9 gene on the cell surface LDL receptors. 54 61 6
16571601 2006
31
Update of the molecular basis of familial hypercholesterolemia in The Netherlands. 54 61 6
16250003 2005
32
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia. 61 54 6
16211558 2005
33
Mutations in low-density lipoprotein receptor gene as a cause of hypercholesterolemia in Taiwan. 54 61 6
16092059 2005
34
[Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia]. 6 54 61
15497035 2004
35
The Delta>15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid polymerase chain reaction-based diagnostic assay and prevalence in Quebec. 54 61 6
14756670 2004
36
Detection of a novel exon 4 low-density lipoprotein receptor gene deletion in a swiss family with severe familial hypercholesterolemia. 54 6 61
12705331 2003
37
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia. 61 54 6
11462246 2001
38
A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene. 54 61 6
11310584 2001
39
Screening for mutations in exon 4 of the LDL receptor gene in Thai subjects with primary hypercholesterolemia: detection of a novel mutation D151Y by PCR-CFLP. 6 54 61
11194025 2000
40
Low density lipoprotein receptor mutations in a selected population of individuals with moderate hypercholesterolemia. 54 6 61
9544746 1998
41
Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. 6 54 61
2280177 1990
42
Familial hypercholesterolemia in a rhesus monkey pedigree: molecular basis of low density lipoprotein receptor deficiency. 57 54 61
2326270 1990
43
Evolocumab in Pediatric Heterozygous Familial Hypercholesterolemia. 61 57
32865373 2020
44
Inclisiran for the Treatment of Heterozygous Familial Hypercholesterolemia. 57 61
32197277 2020
45
20-Year Follow-up of Statins in Children with Familial Hypercholesterolemia. 57 61
31618540 2019
46
The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia. 61 6
27830735 2016
47
Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement. 6 61
26020417 2016
48
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. 61 6
26892515 2016
49
The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia. 61 6
25741862 2015
50
Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and Atherosclerosis. 61 6
26343872 2015

Variations for Hypercholesterolemia, Familial, 1

ClinVar genetic disease variations for Hypercholesterolemia, Familial, 1:

6 (show top 50) (show all 6197)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LDLR NM_000527.5(LDLR):c.677_681dup (p.Glu228fs) Duplication Pathogenic 920229 19:11216258-11216259 19:11105582-11105583
2 LDLR NM_001195800.2(LDLR):c.314-1806_314-1804delinsCA Indel Pathogenic 430762 rs879254637 19:11216262-11216264 19:11105586-11105588
3 LDLR NM_000527.5(LDLR):c.979del (p.His327fs) Deletion Pathogenic 922819 19:11221364-11221364 19:11110688-11110688
4 LDLR NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) SNV Pathogenic 3727 rs121908034 19:11216146-11216146 19:11105470-11105470
5 LDLR NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) SNV Pathogenic 251437 rs879254667 19:11217307-11217307 19:11106631-11106631
6 LDLR NM_000527.4(LDLR):c.694+2T>C SNV Pathogenic 3738 rs200238879 19:11216278-11216278 19:11105602-11105602
7 LDLR NM_000527.4(LDLR):c.337dup (p.Glu113fs) Duplication Pathogenic 440560 rs752191968 19:11215918-11215919 19:11105242-11105243
8 LDLR NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) SNV Pathogenic 251287 rs879254566 19:11216116-11216116 19:11105440-11105440
9 LDLR NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp) Duplication Pathogenic 3733 rs387906306 19:11216246-11216263 19:11105566-11105567
10 LDLR NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) SNV Pathogenic 251216 rs879254520 19:11216002-11216002 19:11105326-11105326
11 LDLR NM_000527.5(LDLR):c.881_882del (p.Lys294fs) Deletion Pathogenic 251499 rs879254704 19:11218131-11218132 19:11107454-11107455
12 LDLR NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu) Indel Pathogenic 251599 rs879254758 19:11221406-11221407 19:11110730-11110731
13 LDLR NM_000527.5(LDLR):c.1097A>G (p.Gln366Arg) SNV Pathogenic 251662 rs746982741 19:11222226-11222226 19:11111550-11111550
14 LDLR NM_001195798.2(LDLR):c.2271del (p.Leu759fs) Deletion Pathogenic 226388 19:11233980-11233980 19:11123304-11123304
15 LDLR NM_000527.4(LDLR):c.680_682delinsCGGTATGGACTGCA (p.Asp227fs) Indel Pathogenic 422951 rs879254637 19:11216262-11216264 19:11105586-11105588
16 LDLR NM_000527.5(LDLR):c.817+1G>A SNV Pathogenic 251469 rs879254685 19:11217364-11217364 19:11106688-11106688
17 LDLR NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg) Indel Pathogenic 251154 rs879254476 19:11215906-11215907 19:11105230-11105231
18 LDLR NM_000527.5(LDLR):c.671A>G (p.Asp224Gly) SNV Pathogenic 251374 rs879254630 19:11216253-11216253 19:11105577-11105577
19 LDLR NM_000527.5(LDLR):c.695-1G>T SNV Pathogenic 251415 rs879254652 19:11217240-11217240 19:11106564-11106564
20 LDLR NM_000527.5(LDLR):c.2390-1G>A SNV Pathogenic 252316 rs879255193 19:11240188-11240188 19:11129512-11129512
21 LDLR NM_000527.5(LDLR):c.560_570del (p.Leu187fs) Deletion Pathogenic 942579 19:11216140-11216150 19:11105464-11105474
22 LDLR NM_000527.4(LDLR):c.1162del (p.His388fs) Deletion Pathogenic 226348 rs875989917 19:11222287-11222287 19:11111611-11111611
23 LDLR NM_000527.5(LDLR):c.2055_2068del (p.Gln686fs) Deletion Pathogenic 946724 19:11231109-11231122 19:11120433-11120446
24 LDLR NM_000527.5(LDLR):c.883del (p.Val295fs) Deletion Pathogenic 947606 19:11218133-11218133 19:11107457-11107457
25 LDLR NM_000527.5(LDLR):c.191-732_740del Deletion Pathogenic 948222 19:11212605-11217283 19:11101929-11106607
26 LDLR NM_000527.5(LDLR):c.1326C>G (p.Tyr442Ter) SNV Pathogenic 251788 rs879254865 19:11224093-11224093 19:11113417-11113417
27 LDLR NM_000527.5(LDLR):c.1202T>A (p.Leu401His) SNV Pathogenic 3735 rs121908038 19:11223969-11223969 19:11113293-11113293
28 LDLR-AS1 NM_000527.5(LDLR):c.1A>T (p.Met1Leu) SNV Pathogenic 250968 rs879254382 19:11200225-11200225 19:11089549-11089549
29 LDLR NM_000527.5(LDLR):c.318del (p.Lys107fs) Deletion Pathogenic 226318 rs875989898 19:11215896-11215896 19:11105220-11105220
30 LDLR NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter) SNV Pathogenic 251758 rs774439908 19:11224024-11224024 19:11113348-11113348
31 LDLR NM_000527.5(LDLR):c.1784_1790del (p.Arg595fs) Deletion Pathogenic 252028 rs879255020 19:11227613-11227619 19:11116936-11116942
32 LDLR NM_000527.5(LDLR):c.1013G>C (p.Cys338Ser) SNV Pathogenic 955980 19:11221400-11221400 19:11110724-11110724
33 LDLR NM_000527.5(LDLR):c.581del (p.Ser194fs) Deletion Pathogenic 955172 19:11216163-11216163 19:11105487-11105487
34 LDLR NM_000527.4(LDLR):c.191-1G>T SNV Pathogenic 440550 rs879254433 19:11213339-11213339 19:11102663-11102663
35 LDLR NM_000527.5(LDLR):c.100T>G (p.Cys34Gly) SNV Pathogenic 251018 rs879254405 19:11210931-11210931 19:11100255-11100255
36 LDLR NM_000527.5(LDLR):c.902A>G (p.Asp301Gly) SNV Pathogenic 251514 19:11218152-11218152 19:11107476-11107476
37 LDLR NM_000527.5(LDLR):c.791del (p.Met264fs) Deletion Pathogenic 960667 19:11217337-11217337 19:11106661-11106661
38 LDLR NM_000527.4(LDLR):c.1358+2T>C SNV Pathogenic 369862 rs193922567 19:11224127-11224127 19:11113451-11113451
39 LDLR NM_000527.4(LDLR):c.378del (p.Phe126fs) Deletion Pathogenic 440565 rs1555803213 19:11215960-11215960 19:11105284-11105284
40 LDLR NM_000527.5(LDLR):c.1223A>T (p.Glu408Val) SNV Pathogenic 251740 rs879254838 19:11223990-11223990 19:11113314-11113314
41 LDLR NM_000527.5(LDLR):c.901_911del (p.Asp301fs) Deletion Pathogenic 962562 19:11218149-11218159 19:11107473-11107483
42 LDLR NM_000527.5(LDLR):c.499T>C (p.Cys167Arg) SNV Pathogenic 251255 rs879254547 19:11216081-11216081 19:11105405-11105405
43 LDLR NM_000527.5(LDLR):c.420G>T (p.Glu140Asp) SNV Pathogenic 251217 rs879254520 19:11216002-11216002 19:11105326-11105326
44 LDLR NM_000527.5(LDLR):c.691T>C (p.Cys231Arg) SNV Pathogenic 251396 rs746091400 19:11216273-11216273 19:11105597-11105597
45 LDLR NM_000527.5(LDLR):c.661delinsATCAC (p.Asp221fs) Indel Pathogenic 971107 19:11216243-11216243 19:11105567-11105567
46 LDLR NM_000527.4(LDLR):c.2270del (p.Pro757fs) Deletion Pathogenic 430798 rs1131692223 19:11233976-11233976 19:11123300-11123300
47 LDLR NM_000527.5(LDLR):c.940+3_940+6del Deletion Pathogenic 869390 19:11218191-11218194 19:11107515-11107518
48 APOB NM_000384.3(APOB):c.12696T>A (p.Tyr4232Ter) SNV Pathogenic 628375 rs1466172660 2:21225598-21225598 2:21002726-21002726
49 LDLR NM_001195803.2(LDLR):c.1606+150_1606+151del Microsatellite Pathogenic 630543 rs1600743301 19:11231056-11231057 19:11120380-11120381
50 LDLR NM_000527.5(LDLR):c.2140+1G>T SNV Pathogenic 252235 rs145787161 19:11231199-11231199 19:11120523-11120523

UniProtKB/Swiss-Prot genetic disease variations for Hypercholesterolemia, Familial, 1:

73 (show top 50) (show all 104)
# Symbol AA change Variation ID SNP ID
1 LDLR p.Cys27Trp VAR_005304 rs2228671
2 LDLR p.Arg78Cys VAR_005307 rs370860696
3 LDLR p.Trp87Gly VAR_005308 rs121908025
4 LDLR p.Cys89Tyr VAR_005309 rs875989894
5 LDLR p.Asp90Gly VAR_005310 rs771019366
6 LDLR p.Asp90Asn VAR_005311 rs749038326
7 LDLR p.Asp90Tyr VAR_005312 rs749038326
8 LDLR p.Gln92Glu VAR_005313 rs774467219
9 LDLR p.Cys95Gly VAR_005314 rs879254456
10 LDLR p.Glu101Lys VAR_005315 rs144172724
11 LDLR p.Cys116Arg VAR_005317 rs879254482
12 LDLR p.Glu140Lys VAR_005318 rs748944640
13 LDLR p.Asp168His VAR_005321 rs200727689
14 LDLR p.Asp168Asn VAR_005322 rs200727689
15 LDLR p.Asp168Tyr VAR_005323 rs200727689
16 LDLR p.Cys173Trp VAR_005325 rs769318035
17 LDLR p.Asp175Asn VAR_005326 rs121908033
18 LDLR p.Ser177Leu VAR_005327 rs121908026
19 LDLR p.Cys197Arg VAR_005330 rs730882085
20 LDLR p.Asp221Gly VAR_005332 rs373822756
21 LDLR p.Asp221Tyr VAR_005333 rs875989906
22 LDLR p.Asp224Val VAR_005336 rs879254630
23 LDLR p.Asp227Glu VAR_005338 rs121908028
24 LDLR p.Glu228Gln VAR_005340 rs121908029
25 LDLR p.Glu228Lys VAR_005341 rs121908029
26 LDLR p.Cys231Gly VAR_005342 rs746091400
27 LDLR p.Cys248Tyr VAR_005345 rs879254663
28 LDLR p.Cys276Tyr VAR_005349 rs730882089
29 LDLR p.Asp301Ala VAR_005352 rs879254714
30 LDLR p.Cys302Tyr VAR_005353 rs879254715
31 LDLR p.Cys302Trp VAR_005354 rs879254716
32 LDLR p.Cys313Tyr VAR_005358 rs875989911
33 LDLR p.Cys318Phe VAR_005360 rs879254739
34 LDLR p.His327Tyr VAR_005361 rs747507019
35 LDLR p.Cys329Tyr VAR_005362 rs761954844
36 LDLR p.Cys338Ser VAR_005364 rs879254753
37 LDLR p.Arg350Pro VAR_005368 rs875989914
38 LDLR p.Cys368Arg VAR_005374 rs879254791
39 LDLR p.Ala399Asp VAR_005376 rs875989918
40 LDLR p.Leu414Arg VAR_005379 rs748554592
41 LDLR p.Arg416Gln VAR_005380 rs773658037
42 LDLR p.Arg416Trp VAR_005381 rs570942190
43 LDLR p.Ile423Thr VAR_005382 rs879254849
44 LDLR p.Val429Met VAR_005383 rs28942078
45 LDLR p.Asp433His VAR_005385 rs121908036
46 LDLR p.Asp482His VAR_005391 rs139624145
47 LDLR p.Trp483Arg VAR_005392 rs879254905
48 LDLR p.Val523Met VAR_005395 rs28942080
49 LDLR p.Gly549Asp VAR_005398 rs28941776
50 LDLR p.Asn564His VAR_005399 rs397509365

Copy number variations for Hypercholesterolemia, Familial, 1 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 124161 19 1 6900000 Deletion or duplication LDLR hypercholesterolemia

Expression for Hypercholesterolemia, Familial, 1

Search GEO for disease gene expression data for Hypercholesterolemia, Familial, 1.

Pathways for Hypercholesterolemia, Familial, 1

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways