FHCL1
MCID: HYP836
MIFTS: 72

Hypercholesterolemia, Familial, 1 (FHCL1)

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

Aliases & Classifications for Hypercholesterolemia, Familial, 1

MalaCards integrated aliases for Hypercholesterolemia, Familial, 1:

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

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
hypercholesterolemia, familial, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 143890
OMIM Phenotypic Series 56 PS143890
MeSH 43 D006938

Summaries for Hypercholesterolemia, Familial, 1

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

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

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

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

Related Diseases for Hypercholesterolemia, Familial, 1

Diseases in the Rare Hypercholesterolemia family:

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

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

(show top 50) (show all 726)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial, 2 34.7 LDLR APOE APOB
2 hyperlipoproteinemia, type iii 32.8 LPL LPA LDLR CETP APOE APOB
3 sitosterolemia 1 32.7 ABCG8 ABCG5
4 hypercholesterolemia, familial, 4 32.6 PCSK9 LDLRAP1 LDLR
5 schnyder corneal dystrophy 32.4 HMGCR APOE APOB APOA2
6 hyperlipidemia, familial combined, 3 31.8 LPL LDLR LCAT INS COG2 CETP
7 arcus corneae 31.7 PCSK9 LPA LDLRAP1 LDLR LCAT COG2
8 coronary artery anomaly 31.2 LPA HMGCR COG2 APOB APOA1
9 aortic valve disease 2 30.8 PCSK9 LPA APOB
10 defective apolipoprotein b-100 30.8 PCSK9 LDLR LCAT HMGCR APOE APOB
11 hyperinsulinism 30.7 LPL INS GHR APOB
12 hypoalphalipoproteinemia 30.7 LCAT APOA2 APOA1
13 arteries, anomalies of 30.7 LPA INS COG2 CETP APOE APOB
14 familial combined hyperlipoproteinemia 30.6 LPL APOB APOA1
15 glucose intolerance 30.5 LPL INS APOB APOA1
16 peripheral artery disease 30.5 PCSK9 APOE APOB APOA1
17 angina pectoris 30.4 LPA INS APOA1
18 hyperuricemia 30.4 INS APOE APOB
19 cerebral atherosclerosis 30.4 LPA APOE APOA1
20 intermediate coronary syndrome 30.4 PCSK9 LPA INS COG2 APOB APOA1
21 acute myocardial infarction 30.3 LPA INS HMGCR APOB APOA1
22 arteriosclerosis 30.3 LPA LDLR INS HMGCR COG2 APOE
23 sitosterolemia 30.2 PCSK9 LDLRAP1 HMGCR APOB APOA1 ABCG8
24 niemann-pick disease, type c1 30.2 HMGCR ABCG8 ABCG5
25 non-alcoholic fatty liver disease 30.2 LPL INS HMGCR APOB APOA1
26 abdominal obesity-metabolic syndrome 1 30.2 LPL INS APOB
27 generalized atherosclerosis 30.2 LPA INS COG2 APOE APOB
28 leptin deficiency or dysfunction 30.1 LPL INS COG2
29 sitosterolemia 2 30.1 ABCG8 ABCG5
30 stroke, ischemic 30.1 LPA LDLR HMGCR COG2 APOE APOB
31 smith-lemli-opitz syndrome 30.1 LDLR HMGCR APOE
32 cerebrovascular disease 30.1 LPL LPA LDLR INS APOE APOB
33 cholelithiasis 30.1 INS APOE ABCG8 ABCG5
34 hepatic lipase deficiency 30.0 LPL APOE APOA1
35 aortic atherosclerosis 30.0 LPL LPA LDLR CETP APOE ABCG8
36 carotid artery disease 30.0 LPA COG2 APOE APOB APOA2 APOA1
37 amyloidosis 30.0 LPA INS APOE APOA2 APOA1
38 hypobetalipoproteinemia, familial, 1 30.0 PCSK9 COG2 APOB APOA1
39 recurrent acute pancreatitis 29.9 LPL APOE
40 acquired immunodeficiency syndrome 29.9 ITIH4 APOE APOB APOA1
41 familial lipoprotein lipase deficiency 29.9 LPL APOE APOB APOA1
42 coronary stenosis 29.7 PCSK9 LPL CETP APOE APOB APOA1
43 huntington disease-like 1 29.7 LPA LCAT CETP APOE APOB APOA2
44 hyperalphalipoproteinemia 1 29.7 LPL LDLR LCAT CETP APOE APOB
45 diabetes mellitus, insulin-dependent 29.7 LPA INS GHR CETP APOB APOA1
46 hypothyroidism 29.7 LPL LPA LDLR INS GHR COG2
47 osteoporosis 29.6 LPA LDLR INS HMGCR GHR APOE
48 sea-blue histiocyte disease 29.6 PCSK9 LDLRAP1 LCAT APOE ABCG8
49 xanthomatosis 29.6 LPL LPA LDLRAP1 LDLR HMGCR APOE
50 hypertriglyceridemia, familial 29.5 LPL INS CETP APOE APOB APOA2

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



Diseases related to Hypercholesterolemia, Familial, 1

Symptoms & Phenotypes for Hypercholesterolemia, Familial, 1

Human phenotypes related to Hypercholesterolemia, Familial, 1:

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
corneal arcus
xanthelasma

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

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

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

Clinical features from OMIM:

143890

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.7 ABCG8 APOA1 APOB APOE CETP HMGCR
2 Increased LDL uptake GR00340-A-1 8.92 APOA1 APOE LDLR LPL

MGI Mouse Phenotypes related to Hypercholesterolemia, Familial, 1:

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

Drugs & Therapeutics for Hypercholesterolemia, Familial, 1

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

(show top 50) (show all 510)
# 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 635728-49-3, 206361-99-1 213039
9
Rilpivirine Approved Phase 4 500287-72-9
10
Cobicistat Approved Phase 4 1004316-88-4
11
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
12
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
13
Lovastatin Approved, Investigational Phase 4 75330-75-5 53232
14
Pravastatin Approved Phase 4 81093-37-0 54687
15
Amlodipine Approved Phase 4 88150-42-9 2162
16
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 6366718 5282452
17
leucovorin Approved Phase 4 58-05-9 6006 143
18
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
19
Zinc Approved, Investigational Phase 4 7440-66-6 32051
20
Glucosamine Approved, Investigational Phase 4 3416-24-8 439213
21
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
22
Loperamide Approved Phase 4 53179-11-6 3955
23
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
24
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
25
Metformin Approved Phase 4 657-24-9 14219 4091
26
Adenosine Approved, Investigational Phase 4 58-61-7 60961
27
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
28
Nevirapine Approved Phase 4 129618-40-2 4463
29
Methyltestosterone Approved Phase 4 58-18-4 6010
30
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 6013 10204
31
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
32
Testosterone enanthate Approved Phase 4 315-37-7 9416
33
Histamine Approved, Investigational Phase 4 51-45-6 774
34
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
35
Racepinephrine Approved Phase 4 329-65-7 838
36
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
37
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
38
Lopinavir Approved Phase 4 192725-17-0 92727
39
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
40
Bexarotene Approved, Investigational Phase 4 153559-49-0 82146
41
Edetic Acid Approved, Vet_approved Phase 4 60-00-4, 62-33-9 6049
42
Pentetic acid Approved Phase 4 67-43-6
43
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
44
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
45
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
46
Repaglinide Approved, Investigational Phase 4 135062-02-1 65981
47
Insulin glargine Approved Phase 4 160337-95-1
48
Dulaglutide Approved, Investigational Phase 4 923950-08-7
49
Insulin aspart Approved Phase 4 116094-23-6 16132418
50
Gemfibrozil Approved Phase 4 25812-30-0 3463

Interventional clinical trials:

(show top 50) (show all 1293)
# Name Status NCT ID Phase Drugs
1 Probiotic BIO-25 as a Supplement to Statins for the Treatment of Hypercholesterolemia Unknown status NCT01849185 Phase 4
2 Tolerability and Lipid Lowering Effect of Weekly/Biweekly Crestor in Statin Intolerant Patients Treated With Zetia Unknown status NCT00972829 Phase 4 Rosuvastatin;Ezetimibe
3 To Compare the Effect of Concomitant Administration of Probucol and Cilostazol With Probucol Single Treatment on the Atherosclerosis Related Markers (Including the Thickness of the Achilles Tendon) and Evaluate Safety (Based on Atorvastatin Treatment) in Severe Hypercholesterolemia Subject Unknown status NCT02098460 Phase 4 Atorvastatin, Probucol, Cilostazol
4 A Double-blind, Randomized, Placebo-controlled, Two-period Crossover Trial to Assess the Effects of 4 g/d P-OM3 on LDL-C and Other Aspects of the Fasting Lipid Profile in Subjects With Primary Hypercholesterolemia Unknown status NCT00746811 Phase 4 P-OM3;Placebo
5 The Impact of the Time of Drug Administration on the Effectiveness of Combined Treatment of Hypercholesterolemia With ROSuvastatin and EZEtimibe (ROSEZE) - A Single-center, Crossover, Open-label Study Unknown status NCT02772640 Phase 4 Rosuvastatin and Ezetimibe morning or evening administration
6 Safety and Efficacy of Fluvastatin in Heart Transplant Recipients Unknown status NCT00421005 Phase 4 fluvastatin
7 A Randomized Controlled Trial Comparing Usual Care With a Multifactorial Intensified Intervention on Cardiovascular Risk Factors in Subjects With Arterial Peripheral Disease With and Without Diabetes. The Taulí Intervention Program (TIP). Unknown status NCT00144937 Phase 4 Stepwise therapy for dyslipidemia, hypertension and diabetes
8 The Effects of Simvastatin in Patients With Chronic Obstructive Pulmonary Disease Unknown status NCT00680641 Phase 4 Simvastatin;Placebo
9 Effect of Atorvastatin on Inflammatory Atherosclerotic Plaques Assessed by FDG-PET Imaging Unknown status NCT00920101 Phase 4 Atorvastatin
10 Phase 4 Clinical Trial to Examine the Role of Rosuvastatin and Exercise Treatment in Modulating Inflammatory Response in Hypercholesterolemic Subjects Unknown status NCT00295373 Phase 4 Rosuvastatin
11 The Metabolic and Anti-Inflammatory Effects of Combined Ezetimibe and Simvastin Therapy, as Compared to Simvastatin Alone, in Patients With Chronic Proteinuric Nephropathy Unknown status NCT00861731 Phase 4 simvastatin;EZE/simvastatin;EZE/simvastatin
12 Comparing a Nucleoside-Analogue-Sparing Regimen and a Protease-Inhibitor-Sparing Regimen in Patients With HIV. Influence on Morphological and Metabolic Disorders. A Randomized, Open-Label Multicenter Trial. Unknown status NCT00135460 Phase 4 nucleoside analogue sparing HAART regimen
13 Pravastatin for Acute Myocardial Infarction With Minimally to Mildly Increased Levels of Serum Cholesterol Study That Evaluates the Effects of Pravastatin for Acute Myocardial Infarction With LDL-Cholesterol Levels of 70-129 mg/dl Unknown status NCT00688922 Phase 4 Pravastatin
14 A Multicenter, Eight Weeks Treatment, Single Step Titration, Open Label Study Assessing the Percentage of Korean Diabetic Dyslipidemic Patients Achieving LDL Cholesterol Target With Atorvastatin Starting Dose 10mg, 20mg, 40mg Unknown status NCT01239849 Phase 4 Atorvastatin, 10mg, 20mg, 40mg
15 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
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 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
18 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
19 Dose Related Decrease in Triglycerides in Patients With Hypertriglyceridemia and Treated With Lovaza. Unknown status NCT00934219 Phase 4 Omega-3-Acid Ethyl Esters
20 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
21 A Randomised Trial Investigating the Cardiovascular Effects of Agomelatine and Escitalopram in Patients With Major Depressive Disorder. Unknown status NCT01483053 Phase 4 Agomelatine;Escitalopram
22 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
23 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
24 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
25 Efficacy and Safety of Certican® in Combination With Myfortic® in Adult Renal Allograft Recipients Following Calcineurin Inhibitor Withdrawal at Week 16 Compared to Patients Who Are Maintained on Tacrolimus and Myfortic® Unknown status NCT01399242 Phase 4 Certican
26 Pilot Study of Ezetimibe for Chronic Hepatitis C Virus (HCV) Infection in Liver Transplant Candidates (EZE-2) Unknown status NCT02768545 Phase 4 Ezetimibe
27 A PROSPECTIVE, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED TRIAL OF THE SUPPLEMENTATION WITH KIOLIC® IN PATIENTS WITH DIAGNOSIS OF METABOLIC SYNDROME TO IMPROVE ENDOTHELIAL FUNCTION AND INFLAMMATORY STATE. "KYMES" Unknown status NCT01168700 Phase 4 aged garlic extract;Placebo
28 A Phase 4 Randomised, Double-Blind, Placebo-Controlled, Parallel-Group, MultiCentre Study of Colesevelam as Add-on Therapy in Patients With Familial Hypercholesterolaemia Completed NCT00655265 Phase 4 Colesevelam hydrochloride film-coated tablets;Placebo
29 A Multicenter, Open-label, Single-arm, Study to Evaluate Safety and Tolerability of Repatha in Patients With Homozygous Familial Hypercholesterolemia (HoFH) in India Completed NCT03403374 Phase 4 Repatha® (evolocumab)
30 Post Marketing Surveillance Study for LDL Apheresis Using H.E.L.P. Therapy Completed NCT00916643 Phase 4
31 A Double-blind, Double Dummy, Phase IV, Randomized, Multicenter, Parallel Group, Placebo Controlled Trial to Evaluate the Effect of Rosuvastatin on Triglycerides Levels in Mexican Hypertriglyceridemic Patients Completed NCT00473655 Phase 4 rosuvastatin
32 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
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 The Effect of a Red Rice and Olive Extract Nutrition Supplement on Cholesterol Completed NCT02065180 Phase 4
35 Evaluate The Lipid-Lowering Efficacy and Safety of Vytorin in Comparison With Atorvastatin in Hypercholesterolaemic Patients With Coronary Artery Disease Completed NCT00442897 Phase 4 simvastatin (+) ezetimibe;Comparator: atorvastatin
36 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
37 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
38 Rosuvastatin Versus Protease Inhibitor Switching for Hypercholesterolaemia in HIV-infected Adults Completed NCT01935674 Phase 4 Switch ritonavir-boosted PI;Continue Ritonavir-boosted PI+Rosuvastatin
39 Effect of Plant Stanol Ester-Containing Spread Based on Extra Virgin Olive Oil on Estimated Cardiovascular Risk, and Lipid-Inflammatory-Haemostatic Factors in Comparison to Mediterranean Diet: A Randomized, Placebo-Controlled Trial. Completed NCT00793364 Phase 4
40 Vascular and Metabolic Effects of Rosuvastatin Completed NCT01660919 Phase 4 placebo;rosuvastatin
41 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
42 Glucosamine Sulphate and Hypercholesterolaemia Completed NCT00251069 Phase 4 Glucosamine sulphate
43 Effects of Atorvastatin on Adiponectin Levels and Insulin Sensitivity In Hypercholesterolemic Patients Completed NCT00745836 Phase 4 statin
44 Vascular and Metabolic Effects of Vytorin vs Simvastatin Completed NCT01666067 Phase 4 placebo;vytorin;simvastatin
45 Vascular and Metabolic Effects of Vytorin Completed NCT01660945 Phase 4 placebo;vytorin
46 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
47 A Randomized , Open Label, Dose Titration Study to Evaluate the Effect of Pitavastatin Versus Atorvastatin in Patients With Hypercholesterolemia and Mild to Moderate Hepatic Damage Completed NCT01166633 Phase 4 pitavastatin;atorvastatin
48 A 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
49 A Multi-center, Randomized, Open-labeled Clinical Trial to Evaluate Efficacy and Safety of Lipinon® 20mg Versus Lipitor® 20mg in Korean Patients With Hypercholesterolemia Completed NCT01081548 Phase 4 atorvastatin;atorvastatin
50 A 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

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 Hypercholesterolemia 29

Anatomical Context for Hypercholesterolemia, Familial, 1

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

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

Publications for Hypercholesterolemia, Familial, 1

Articles related to Hypercholesterolemia, Familial, 1:

(show top 50) (show all 24357)
# 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 56 6
20703241 2010
2
Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing. 61 56 6
18400033 2008
3
A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing. 54 56 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 56 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. 61 56 6
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 56 6
12522687 2002
7
Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population. 61 56 6
11491306 2001
8
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). 61 56 6
10422803 1999
9
Unusual xanthomas in a young patient with heterozygous familial hypercholesterolemia and type III hyperlipoproteinemia. 61 56 6
8911609 1996
10
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 61 56 6
1301956 1992
11
The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. 61 56 6
2088165 1990
12
Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia. 61 56 6
2777800 1989
13
The longest-lived patient with homozygous familial hypercholesterolemia secondary to a defect in internalization of the LDL receptor. 61 56 6
3425583 1987
14
Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia. 61 56 6
3020025 1986
15
The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors. 61 56 6
3955657 1986
16
Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain. 61 56 6
3924410 1985
17
THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA. 61 56 6
14209286 1964
18
Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolaemia. 56 6
8054972 1994
19
Defective processing and binding of low-density lipoprotein receptors in fibroblasts from a familial hypercholesterolaemic subject. 56 6
2920733 1989
20
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. 56 6
3549308 1987
21
Increased intestinal cholesterol absorption in autosomal dominant hypercholesterolemia and no mutations in the low-density lipoprotein receptor or apolipoprotein B genes. 54 61 56
17566095 2007
22
Genetic analysis of Indian subjects with clinical features of possible type IIa hypercholesterolemia. 54 61 6
18022922 2007
23
Update of the molecular basis of familial hypercholesterolemia in The Netherlands. 54 61 6
16250003 2005
24
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
25
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia. 54 61 6
11462246 2001
26
Low density lipoprotein receptor mutations in a selected population of individuals with moderate hypercholesterolemia. 54 61 6
9544746 1998
27
Familial hypercholesterolemia in a rhesus monkey pedigree: molecular basis of low density lipoprotein receptor deficiency. 54 61 56
2326270 1990
28
20-Year Follow-up of Statins in Children with Familial Hypercholesterolemia. 61 56
31618540 2019
29
Recommendations for the management of patients with familial hypercholesterolemia. 61 6
25404096 2015
30
Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum. 61 6
24636176 2014
31
Familial Hypercholesterolemia 61 6
24404629 2014
32
Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum. 61 6
23725921 2013
33
Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. 61 6
21600525 2011
34
Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting. 61 6
19007590 2008
35
Vascular calcifications in homozygote familial hypercholesterolemia. 61 6
18239150 2008
36
Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect. 61 6
18096825 2008
37
Genetic heterogeneity of autosomal dominant hypercholesterolemia. 61 56
18028451 2008
38
Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia. 61 56
17215532 2007
39
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia. 61 6
16542394 2006
40
Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent. 61 6
16465405 2006
41
The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population. 61 6
15823288 2005
42
Efficacy and safety of pravastatin in children and adolescents with heterozygous familial hypercholesterolemia: a prospective clinical follow-up study. 61 56
15657370 2005
43
Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia. 61 6
15576851 2005
44
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. 61 6
15241806 2004
45
Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. 61 6
15177124 2004
46
Hypercholesterolemia associated with splice-junction variation of inter-alpha-trypsin inhibitor heavy chain 4 (ITIH4) gene. 61 6
14661079 2004
47
FH-Pyrgos: a novel mutation in the promoter (-45delT) of the low-density lipoprotein receptor gene associated with familial hypercholesterolemia. 61 6
14616764 2003
48
Ischemic optic neuropathy as the first manifestation of elevated cholesterol levels in young patients. 61 56
12750110 2003
49
A promoter SNP (-1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia. 61 6
12955585 2003
50
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. 61 6
12436241 2002

Variations for Hypercholesterolemia, Familial, 1

ClinVar genetic disease variations for Hypercholesterolemia, Familial, 1:

6 (show top 50) (show all 3118) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LDLR NM_000527.4(LDLR):c.296C>G (p.Ser99Ter)SNV Pathogenic 161269 rs377271627 19:11213445-11213445 19:11102769-11102769
2 LDLR NM_000527.4(LDLR):c.178C>T (p.Gln60Ter)SNV Pathogenic 200924 rs794728585 19:11211009-11211009 19:11100333-11100333
3 LDLR NM_000527.4(LDLR):c.191-?_1186+?dupduplication Pathogenic 226404 19:11213339-11222316
4 LDLR NM_000527.4(LDLR):c.314-?_694+?deldeletion Pathogenic 226405 19:11215895-11216277
5 LDLR NM_000527.4(LDLR):c.314-?_1060+?deldeletion Pathogenic 226407 19:11215895-11221447
6 LDLR NM_000527.4(LDLR):c.941-?_1186+?dupduplication Pathogenic 226400 19:11221327-11222316
7 LDLR NM_000527.4(LDLR):c.1187-?_1586+?deldeletion Pathogenic 226401 19:11223953-11224439
8 LDLR NM_000527.4(LDLR):c.1587-?_1845+?deldeletion Pathogenic 226397 19:11226769-11227675
9 LDLR NM_000527.4(LDLR):c.1846-?_2140+?dupduplication Pathogenic 226403 19:11230767-11231199
10 LDLR NM_000527.4(LDLR):c.2141-?_2311+?deldeletion Pathogenic 226399 19:11233849-11234021
11 LDLR NM_000527.4(LDLR):c.2141-?_(2583_?)deldeletion Pathogenic 226406 19:11233849-11244506
12 LDLR NM_001195798.2(LDLR):c.6del (p.Trp4fs)deletion Pathogenic 226303 rs875989888 19:11200227-11200227 19:11089551-11089551
13 LDLR NM_000527.4(LDLR):c.82G>T (p.Glu28Ter)SNV Pathogenic 226305 rs551747280 19:11210913-11210913 19:11100237-11100237
14 LDLR NM_001195799.2(LDLR):c.190+2324_190+2325deldeletion Pathogenic 226307 rs875989889 19:11213345-11213346 19:11102668-11102669
15 LDLR NM_000527.4(LDLR):c.246C>A (p.Cys82Ter)SNV Pathogenic 226309 rs875989891 19:11213395-11213395 19:11102719-11102719
16 LDLR NM_000527.4(LDLR):c.253C>T (p.Gln85Ter)SNV Pathogenic 226311 rs875989893 19:11213402-11213402 19:11102726-11102726
17 LDLR NM_000527.4(LDLR):c.304C>T (p.Gln102Ter)SNV Pathogenic 226314 rs563390335 19:11213453-11213453 19:11102777-11102777
18 LDLR NM_001195800.2(LDLR):c.314-2168deldeletion Pathogenic 226318 rs875989898 19:11215896-11215896 19:11105220-11105220
19 LDLR NM_000527.4(LDLR):c.313_313+1deldeletion Pathogenic 226316 rs875989896 19:11213462-11213463 19:11102786-11102787
20 LDLR NM_000527.4(LDLR):c.429C>A (p.Cys143Ter)SNV Pathogenic 226325 rs199774121 19:11216011-11216011 19:11105335-11105335
21 LDLR NM_001195800.2(LDLR):c.314-1826deldeletion Pathogenic 226330 rs875989905 19:11216239-11216239 19:11105563-11105563
22 LDLR NM_000527.4(LDLR):c.1033C>T (p.Gln345Ter)SNV Pathogenic 226341 rs875989913 19:11221420-11221420 19:11110744-11110744
23 LDLR NM_000527.4(LDLR):c.1048C>T (p.Arg350Ter)SNV Pathogenic 226342 rs769737896 19:11221435-11221435 19:11110759-11110759
24 LDLR NM_000527.4(LDLR):c.908_926dup (p.Ile310_Lys311insGlyLeuValArgTer)duplication Pathogenic 226335 rs875989908 19:11218155-11218156 19:11107479-11107480
25 LDLR NM_000527.4(LDLR):c.1118_1121dup (p.Tyr375fs)duplication Pathogenic 226347 rs875989916 19:11222247-11222250 19:11111568-11111569
26 LDLR NM_000527.4(LDLR):c.1162del (p.His388fs)deletion Pathogenic 226348 rs875989917 19:11222287-11222287 19:11111611-11111611
27 LDLR NM_001195798.2(LDLR):c.1371_1374dup (p.Ala459fs)duplication Pathogenic 226355 rs875989920 19:11224223-11224226 19:11113544-11113545
28 LDLR NM_000527.4(LDLR):c.1448G>A (p.Trp483Ter)SNV Pathogenic 226356 rs875989921 19:11224300-11224300 19:11113624-11113624
29 LDLR NM_000527.4(LDLR):c.1469G>A (p.Trp490Ter)SNV Pathogenic 226357 rs875989922 19:11224321-11224321 19:11113645-11113645
30 LDLR NM_000527.4(LDLR):c.1469G>T (p.Trp490Leu)SNV Pathogenic 226358 rs875989922 19:11224321-11224321 19:11113645-11113645
31 LDLR NM_000527.4(LDLR):c.1555C>A (p.Pro519Thr)SNV Pathogenic 226360 rs875989923 19:11224407-11224407 19:11113731-11113731
32 LDLR NM_000527.4(LDLR):c.1685G>A (p.Trp562Ter)SNV Pathogenic 226364 rs875989925 19:11226868-11226868 19:11116192-11116192
33 LDLR NM_001195798.2(LDLR):c.1715_1719delinsA (p.Ser572fs)indel Pathogenic 226369 rs875989927 19:11227544-11227548 19:11116868-11116872
34 LDLR NM_000527.4(LDLR):c.1731G>A (p.Trp577Ter)SNV Pathogenic 226370 rs875989928 19:11227560-11227560 19:11116884-11116884
35 LDLR NM_000527.4(LDLR):c.1846-2179_2140+2154deldeletion Pathogenic 226298 19:11228589-11233352 19:11117913-11122676
36 LDLR NM_001195803.2(LDLR):c.1606+176deldeletion Pathogenic 226383 rs875989937 19:11231084-11231084 19:11120408-11120408
37 LDLR NM_001195798.2(LDLR):c.1952_1953AT[1] (p.Met652fs)short repeat Pathogenic 226381 rs875989935 19:11230874-11230875 19:11120198-11120199
38 LDLR NM_001195798.2(LDLR):c.2271del (p.Leu759fs)deletion Pathogenic 226388 rs875989940 19:11233980-11233980 19:11123304-11123304
39 LDLR NM_001195798.2(LDLR):c.2292del (p.Ile764fs)deletion Pathogenic 226390 rs875989941 19:11234001-11234001 19:11123325-11123325
40 LDLR NM_000527.4(LDLR):c.2344A>T (p.Lys782Ter)SNV Pathogenic 226392 rs875989943 19:11238716-11238716 19:11128040-11128040
41 LDLR NM_000527.4(LDLR):c.818-?_1186+?deldeletion Pathogenic 226398 19:11218067-11222316
42 LDLR NM_000527.4(LDLR):c.1428dup (p.Asp477fs)duplication Pathogenic 228357 rs876657697 19:11224280-11224280 19:11113599-11113600
43 LDLR c.(?_-187)_(2140+1_2141-1)deldeletion Pathogenic 250938 19:11200038-11233849
44 LDLR c.(?_-187)_(2311+1_2312-1)deldeletion Pathogenic 250939 19:11200038-11238683
45 LDLR FH Vancouver 2deletion Pathogenic 3717
46 LDLR NM_000527.4(LDLR):c.97C>T (p.Gln33Ter)SNV Pathogenic 3683 rs121908024 19:11210928-11210928 19:11100252-11100252
47 LDLR FH Nashvilleinsertion Pathogenic 3693
48 LDLR FH Reykjavikdeletion Pathogenic 3719
49 LDLR FH Paris 1deletion Pathogenic 3700 rs1555803632 19:11217115-11217887 19:11106439-11107211
50 LDLR NM_000527.4(LDLR):c.2439G>A (p.Trp813Ter)SNV Pathogenic 3703 rs121908032 19:11240238-11240238 19:11129562-11129562

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

73 (show top 50) (show all 105)
# Symbol AA change Variation ID SNP ID
1 APOE p.Arg163Cys VAR_000659 rs769455
2 LDLR p.Cys27Trp VAR_005304 rs2228671
3 LDLR p.Arg78Cys VAR_005307 rs370860696
4 LDLR p.Trp87Gly VAR_005308 rs121908025
5 LDLR p.Cys89Tyr VAR_005309 rs875989894
6 LDLR p.Asp90Gly VAR_005310 rs771019366
7 LDLR p.Asp90Asn VAR_005311 rs749038326
8 LDLR p.Asp90Tyr VAR_005312 rs749038326
9 LDLR p.Gln92Glu VAR_005313 rs774467219
10 LDLR p.Cys95Gly VAR_005314 rs879254456
11 LDLR p.Glu101Lys VAR_005315 rs144172724
12 LDLR p.Cys116Arg VAR_005317 rs879254482
13 LDLR p.Glu140Lys VAR_005318 rs748944640
14 LDLR p.Asp168His VAR_005321 rs200727689
15 LDLR p.Asp168Asn VAR_005322 rs200727689
16 LDLR p.Asp168Tyr VAR_005323 rs200727689
17 LDLR p.Cys173Trp VAR_005325 rs769318035
18 LDLR p.Asp175Asn VAR_005326 rs121908033
19 LDLR p.Ser177Leu VAR_005327 rs121908026
20 LDLR p.Cys197Arg VAR_005330 rs730882085
21 LDLR p.Asp221Gly VAR_005332 rs373822756
22 LDLR p.Asp221Tyr VAR_005333 rs875989906
23 LDLR p.Asp224Val VAR_005336 rs879254630
24 LDLR p.Asp227Glu VAR_005338 rs121908028
25 LDLR p.Glu228Gln VAR_005340 rs121908029
26 LDLR p.Glu228Lys VAR_005341 rs121908029
27 LDLR p.Cys231Gly VAR_005342 rs746091400
28 LDLR p.Cys248Tyr VAR_005345 rs879254663
29 LDLR p.Cys276Tyr VAR_005349 rs730882089
30 LDLR p.Asp301Ala VAR_005352 rs879254714
31 LDLR p.Cys302Tyr VAR_005353 rs879254715
32 LDLR p.Cys302Trp VAR_005354 rs879254716
33 LDLR p.Cys313Tyr VAR_005358 rs875989911
34 LDLR p.Cys318Phe VAR_005360 rs879254739
35 LDLR p.His327Tyr VAR_005361 rs747507019
36 LDLR p.Cys329Tyr VAR_005362 rs761954844
37 LDLR p.Cys338Ser VAR_005364 rs879254753
38 LDLR p.Arg350Pro VAR_005368 rs875989914
39 LDLR p.Cys368Arg VAR_005374 rs879254791
40 LDLR p.Ala399Asp VAR_005376 rs875989918
41 LDLR p.Leu414Arg VAR_005379 rs748554592
42 LDLR p.Arg416Gln VAR_005380 rs773658037
43 LDLR p.Arg416Trp VAR_005381 rs570942190
44 LDLR p.Ile423Thr VAR_005382 rs879254849
45 LDLR p.Val429Met VAR_005383 rs28942078
46 LDLR p.Asp433His VAR_005385 rs121908036
47 LDLR p.Asp482His VAR_005391 rs139624145
48 LDLR p.Trp483Arg VAR_005392 rs879254905
49 LDLR p.Val523Met VAR_005395 rs28942080
50 LDLR p.Gly549Asp VAR_005398 rs28941776

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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 PCSK9 LPL LPA LDLRAP1 LDLR LCAT
2
Show member pathways
13.17 LDLRAP1 LDLR INS COG2 APOE APOB
3
Show member pathways
12.52 LPL LDLR APOE APOB APOA2 APOA1
4
Show member pathways
12.33 LPL INS ABCG8 ABCG5
5
Show member pathways
12.3 PCSK9 LPL LPA LDLRAP1 LDLR LCAT
6
Show member pathways
12.19 LDLR INS APOE APOB APOA1
7
Show member pathways
12.06 LPL LDLR APOE APOB APOA2 APOA1
8
Show member pathways
11.73 APOE APOB APOA1
9 11.57 LPL APOA2 APOA1
10 11.57 LPL LDLR INS HMGCR
11
Show member pathways
11.54 PCSK9 LPL LPA LDLRAP1 LDLR LCAT
12 11.53 LDLR HMGCR ABCG8 ABCG5
13 11.3 LPL ABCG8 ABCG5
14
Show member pathways
11.27 APOB APOA1 ABCG8 ABCG5
15 10.85 LDLR HMGCR
16 10.84 APOA2 APOA1
17
Show member pathways
10.27 PCSK9 LDLR

GO Terms for Hypercholesterolemia, Familial, 1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10.18 PCSK9 LPL LCAT INS GHR CETP
2 extracellular region GO:0005576 10.18 PCSK9 LPL LPA LCAT ITIH4 INS
3 endoplasmic reticulum lumen GO:0005788 9.91 PCSK9 INS APOE APOB APOA2 APOA1
4 early endosome GO:0005769 9.87 PCSK9 LDLRAP1 LDLR APOE APOB APOA2
5 receptor complex GO:0043235 9.86 LDLR GHR ABCG8 ABCG5
6 blood microparticle GO:0072562 9.84 ITIH4 APOE APOA2 APOA1
7 clathrin-coated endocytic vesicle membrane GO:0030669 9.69 LDLR APOE APOB
8 endocytic vesicle lumen <