MCID: FML021
MIFTS: 67

Familial Hypercholesterolemia

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases, Skin diseases

Aliases & Classifications for Familial Hypercholesterolemia

MalaCards integrated aliases for Familial Hypercholesterolemia:

Name: Familial Hypercholesterolemia 12 24 53 37 29 6 15 17
Hyperlipoproteinemia Type Iia 24 53 37
Hypercholesterolemia, Autosomal Dominant 24 55
Familial Hypercholesterolemias 29 6
Familial Hypercholesterolemic Xanthomatosis 53
Fredrickson Type Iia Hyperlipoproteinemia 12
Familial Hyperbetalipoproteinaemia 12
Hyper-Low Density-Lipoproteinemia 53
Fredrickson Type Iia Lipidaemia 12
Hypercholesterolemia, Familial 40
Hyperlipoproteinemia, Type Ii 53
Familial Hypercholesterolæmia 24
Hypercholesterolemia Familial 55
Hyperlipoproteinemia Type Ii 44
Familial Hypercholesteremia 12
Hyperbetalipoproteinemia 12
Type Ii Hyperlipidemia 12

Characteristics:

GeneReviews:

24
Penetrance Apob. penetrance for fh can be incomplete in persons with a heterozygous apob pathogenic variant [fahed & nemer 2011]....

Classifications:



External Ids:

Disease Ontology 12 DOID:13810
MeSH 44 D006938
NCIt 50 C34704
SNOMED-CT 68 31654005
ICD10 33 E78.00 E78.01
UMLS 72 C0020445

Summaries for Familial Hypercholesterolemia

NIH Rare Diseases : 53 Familial hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood due to mutations in the LDLR gene. People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of excess cholesterol in other tissues (e.g., in the tendons and skin). Familial hypercholesterolemia tends to be passed through families in an autosomal dominant fashion. There are other hereditary forms of hypercholesterolemia caused by mutations in the APOB, LDLRAP1, or PCSK9 gene. However, most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes.

MalaCards based summary : Familial Hypercholesterolemia, also known as hyperlipoproteinemia type iia, is related to homozygous familial hypercholesterolemia and hyperlipoproteinemia, type iii. An important gene associated with Familial Hypercholesterolemia is LDLR (Low Density Lipoprotein Receptor), and among its related pathways/superpathways are Bile secretion and Endocytosis. The drugs Heparin and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and endothelial, and related phenotypes are Decreased free cholesterol and no effect

Disease Ontology : 12 A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.

KEGG : 37
Familial hypercholesterolaemia is an autosomal dominant disorder caused by deficiency of low density lipoprotein receptor. Other forms of this disorder include hypercholesterolemia caused by mutation of APOB or PCSK9 gene. This disorder is characterized by severely elevated plasma LDL cholesterol, tuberous and tendon xanthomata, and premature atherosclerosis. Patients have a significantly elevated risk of early coronary heart disease.

Wikipedia : 75 Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels,... more...

GeneReviews: NBK174884

Related Diseases for Familial Hypercholesterolemia

Diseases in the Rare Hypercholesterolemia family:

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

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

(show top 50) (show all 280)
# Related Disease Score Top Affiliating Genes
1 homozygous familial hypercholesterolemia 34.3 PCSK9 MTTP LIPC LDLRAP1 LDLR HMGCR
2 hyperlipoproteinemia, type iii 32.9 LPL LPA LIPC LDLR HMGCR COG2
3 atherosclerosis susceptibility 31.8 LPA LDLR CETP APOE APOB APOA1
4 coronary artery anomaly 31.6 LPL LPA HMGCR COG2 CETP APOB
5 defective apolipoprotein b-100 31.6 PCSK9 LDLR LCAT HMGCR APOE APOB
6 xanthomatosis 31.5 LPL LPA LDLRAP1 LDLR HMGCR APOE
7 arteries, anomalies of 31.5 LPA LDLR COG2 CETP APOE APOB
8 coronary stenosis 31.5 PCSK9 CETP APOE APOB APOA1
9 heart disease 31.5 LPL LDLR APOE APOB APOA1 ABCA1
10 peripheral vascular disease 31.4 LPA APOB APOA1
11 hypertriglyceridemia, familial 31.4 LPL LIPC CETP APOE APOB APOA1
12 inherited metabolic disorder 31.3 PCSK9 COG2 APOB APOA1
13 sitosterolemia 31.3 MTTP HMGCR APOB
14 cerebrovascular disease 31.2 LDLR APOE APOB APOA1
15 arteriosclerosis 31.2 LPA HMGCR COG2 APOE APOB APOA1
16 hypobetalipoproteinemia, familial, 1 31.1 PCSK9 MTTP COG2 APOB
17 vascular disease 31.1 LPL LPA LDLR HMGCR CETP APOE
18 aortic atherosclerosis 31.0 LPA LDLR CETP APOE ABCA1
19 carotid artery disease 30.9 LPA COG2 APOE APOB APOA1
20 stroke, ischemic 30.8 LPA HMGCR COG2 APOE APOB
21 coronary heart disease 1 30.8 LPL LPA LIPC LDLR LCAT HMGCR
22 cerebral atherosclerosis 30.8 APOE APOA1
23 diabetes mellitus 30.7 LPL LPA LIPC HMGCR COG2 APOB
24 huntington disease-like 1 30.7 LPA CETP APOE APOB
25 myocardial infarction 30.6 LPA LDLR HMGCR COG2 CETP APOE
26 hepatic lipase deficiency 30.6 LPL LIPC APOE APOA1
27 lipid metabolism disorder 30.5 MTTP LPL LPA LIPC LDLR LCAT
28 familial hyperlipidemia 30.4 LPL LPA LIPC LDLR LCAT HMGCR
29 hyperalphalipoproteinemia 1 30.3 LPL LIPC LDLR LCAT CETP APOE
30 abetalipoproteinemia 30.3 MTTP LPL LDLR LCAT CETP APOE
31 hypertension, essential 30.3 LPL LPA APOB APOA1
32 hypolipoproteinemia 30.2 MTTP LPL LPA LCAT APOE APOB
33 recurrent acute pancreatitis 30.0 LPL APOE
34 arcus corneae 29.8 PCSK9 LPA LDLRAP1 LDLR LCAT COG2
35 tangier disease 29.8 LPL LPA LCAT CETP APOE APOB
36 diabetes mellitus, noninsulin-dependent 29.4 MTTP LPL LPA LIPC LCAT HMGCR
37 body mass index quantitative trait locus 11 29.2 MTTP LPL LPA LIPC LDLR GHR
38 hyperlipoproteinemia, type ii, and deafness 12.4
39 hypercholesterolemia, familial, 1 12.3
40 hypercholesterolemia, familial, 3 12.0
41 hyperlipidemia, familial combined, 3 11.8
42 hypercholesterolemia, familial, 4 11.7
43 hypercholesterolemia, familial, 2 11.6
44 cerebrotendinous xanthomatosis 11.5
45 cholesterol ester storage disease 10.8 LDLRAP1 COG2 APOB
46 xanthoma disseminatum 10.8 APOE APOB
47 apo a-i deficiency 10.7 LCAT APOA1
48 smith-lemli-opitz syndrome 10.7 LDLR HMGCR APOE ABCA1
49 vitamin e, familial isolated deficiency of 10.7 APOB APOA1 ABCA1
50 schnyder corneal dystrophy 10.7 APOE APOB APOA2

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



Diseases related to Familial Hypercholesterolemia

Symptoms & Phenotypes for Familial Hypercholesterolemia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.93 ABCA1 APOA1 APOB APOE CETP HMGCR
2 no effect GR00402-S-1 9.92 ABCA1 APOA1 APOA2 APOB APOE CETP
3 Increased LDL uptake GR00340-A-1 9.26 APOA1 APOE LDLR LPL

MGI Mouse Phenotypes related to Familial Hypercholesterolemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.86 ABCA1 APOA1 APOA2 APOB APOE COG2
2 cardiovascular system MP:0005385 9.85 ABCA1 APOA1 APOB APOE EPHX2 GHR
3 liver/biliary system MP:0005370 9.36 ABCA1 APOA1 APOB APOE GHR HMGCR

Drugs & Therapeutics for Familial Hypercholesterolemia

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

(show top 50) (show all 108)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3
Evolocumab Approved Phase 4 1256937-27-5
4 Hormones Phase 4
5 calcium heparin Phase 4
6 Colesevelam Hydrochloride Phase 4
7 14-alpha Demethylase Inhibitors Phase 4
8 Cytochrome P-450 CYP2C9 Inhibitors Phase 4
9 Cytochrome P-450 CYP3A Inhibitors Phase 4
10 Antifungal Agents Phase 4
11 Cytochrome P-450 Enzyme Inhibitors Phase 4
12 Steroid Synthesis Inhibitors Phase 4
13 Hormone Antagonists Phase 4
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
15 Lipid Regulating Agents Phase 4
16 Antibodies Phase 4
17 Hypolipidemic Agents Phase 4
18 Immunoglobulins Phase 4
19 Antibodies, Monoclonal Phase 4
20 Anticholesteremic Agents Phase 4
21 Antimetabolites Phase 4
22 Immunologic Factors Phase 4
23
Mipomersen Approved, Investigational Phase 3 1000120-98-8
24
Esomeprazole Approved, Investigational Phase 3 119141-88-7, 161796-78-7, 161973-10-0 9568614 4594
25
Pitavastatin Approved Phase 3 147511-69-1, 147526-32-7 5282452 6366718
26
Colestipol Approved Phase 3 26658-42-4
27
Calcium polycarbophil Approved Phase 3 126040-58-2
28
Metoprolol Approved, Investigational Phase 3 37350-58-6, 51384-51-1 4171
29 sodium fluoride Approved Phase 3 7681-49-4
30
Nitroglycerin Approved, Investigational Phase 3 55-63-0 4510
31
Atorvastatin Approved Phase 3 134523-00-5 60823
32
Simvastatin Approved Phase 3 79902-63-9 54454
33
Pravastatin Approved Phase 3 81093-37-0 54687
34
Fenofibrate Approved Phase 3 49562-28-9 3339
35
Lovastatin Approved, Investigational Phase 3 75330-75-5 53232
36
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
37
Ezetimibe Approved Phase 3 163222-33-1 150311
38
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
39
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
40
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
41
Torcetrapib Investigational Phase 3 262352-17-0 159325
42 Bococizumab Investigational Phase 3 1407495-02-6
43
Anacetrapib Investigational Phase 3 875446-37-0
44 Ezetimibe, Simvastatin Drug Combination Phase 3
45 Bone Density Conservation Agents Phase 3
46 Olive Phase 3
47 Psyllium Phase 3
48 acivicin Phase 3
49 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
50 Anti-Infective Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 204)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 Post Marketing Surveillance Study for LDL Apheresis Using H.E.L.P. Therapy Completed NCT00916643 Phase 4
4 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
5 A Multicenter, Open-label, Single-arm, Study to Evaluate Safety and Tolerability of Repatha in Patients With Homozygous Familial Hypercholesterolemia (HoFH) in India Recruiting NCT03403374 Phase 4 Repatha® (evolocumab)
6 Impact of LDL-cholesterol Lowering on Platelet Activation Recruiting NCT03331666 Phase 4 Evolocumab
7 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 Active, not recruiting NCT02957682 Phase 4 Praluent (Alirocumab);Placebo
8 Long Term Safety Study of PRALUENT in Patients With Heterozygous Familial Hypercholesterolemia or With Non-Familial Hypercholesterolemia at High and Very High Cardiovascular Risk and Previously Enrolled in the Neurocognitive Function Trial Enrolling by invitation NCT03694197 Phase 4 Praluent
9 Randomized, Double-blind, Placebo Controlled, Parallel-group, Prospective Clinical Study to Analyse the Effect of Evolocumab on Vascular Function Not yet recruiting NCT03626831 Phase 4 Evolocumab Prefilled Syringe;Placebos
10 2-part, Phase 2/3 Study to Assess the Safety, Tolerability and Efficacy of AMG 145 in Subjects With Homozygous Familial Hypercholesterolemia. Part A - Open-label, Single-arm, Multicenter Pilot Study to Evaluate Safety, Tolerability and Efficacy of AMG 145 in Subjects With Homozygous Familial Hypercholesterolemia. Part B - Double-blind, Randomized, Placebo-controlled, Multicenter Study to Evaluate Safety, Tolerability and Efficacy of AMG 145 in Subjects With Homozygous Familial Hypercholesterolemia Completed NCT01588496 Phase 2, Phase 3 Placebo
11 Phase 3 Multi-Center, Double-Blind, Randomized, Parallel Group, Carotid B-Mode Ultrasound Evaluation of the Anti-Atherosclerotic Efficacy, Safety and Tolerability of Fixed Combination CP-529,414/Atorvastatin, Administered Orally, Once Daily (QD) for 24 Months, Compared With Maximally Tolerated Atorvastatin Therapy Alone, in Subjects With Heterozygous Familial Hypercholesterolemia. Completed NCT00136981 Phase 3 torcetrapib/atorvastatin;atorvastatin
12 Phase 3, Multi-Center, Double-Blind, Randomized, Parallel Group, Study of the Efficacy, Safety, and Tolerability of Fixed Combination Torcetrapib (CP-529,414) / Atorvastatin Administered Orally, Once Daily (QD) for Six Months, Compared With Maximally Tolerated Atorvastatin Therapy Alone, in Subjects With Heterozygous Familial Hypercholesterolemia Completed NCT00134485 Phase 3 torcetrapib/atorvastatin;atorvastatin
13 Efficacy and Safety of Fluvastatin in Children With Heterozygous Familial Hypercholesterolemia Completed NCT00171236 Phase 3 Fluvastatin
14 Phase 3 Multi-Center, Open Label, Forced Titration Study To Evaluate The Efficacy, Safety, And Tolerability Of Torcetrapib/Atorvastatin Combination Administered Orally, Once Daily (Qd) In Patients With Homozygous Familial Hypercholesterolaemia Completed NCT00134511 Phase 3 Torcetrapib/atorvastatin
15 A Randomized, Double-Blind, Placebo-Controlled Study to Assess Efficacy and Safety of ISIS 301012 as Add-on Therapy in Heterozygous Familial Hypercholesterolemia Subjects With Coronary Artery Disease Completed NCT00706849 Phase 3 mipomersen sodium;placebo
16 A 1-Year, Worldwide, Multicenter, Double-Blind, Randomized, Parallel, Placebo- Controlled Study to Assess the Efficacy and Tolerability of Anacetrapib When Added to Ongoing Statin Therapy With or Without Other Lipid Modifying Medication(s) in Patients With Heterozygous Familial Hypercholesterolemia Completed NCT01524289 Phase 3 Anacetrapib;Placebo for Anacetrapib
17 A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of Alirocumab in Patients With Heterozygous Familial Hypercholesterolemia Undergoing Lipid Apheresis Therapy Completed NCT02326220 Phase 3 Alirocumab;Placebo
18 A 52 Week, Phase 3 Double-blind, Randomized, Placebo-controlled, Parallel-group Study To Assess The Efficacy, Safety And Tolerability Of Pf-04950615 In Subjects With Heterozygous Familial Hypercholesterolemia Completed NCT01968980 Phase 3 Bococizumab (PF-04950615;RN316)
19 A Three Year, Prospective, Open-label, Study To Evaluate Clinical Efficacy, Safety And Tolerability Of Atorvastatin In Children And Adolescents With Heterozygous Familial Hypercholesterolemia Completed NCT00827606 Phase 3 atorvastatin
20 A Phase III Efficacy And Safety Study of Ezetimibe (SCH58235) 10 mg in Addition to Atorvastatin or Simvastatin in the Therapy of Homozygous Familial Hypercholesterolemia Completed NCT03884452 Phase 3 Atorvastatin;Simvastatin;Ezetimibe;Placebo for Ezetimibe
21 A 12-Week, Multicenter, Double-Blind, Randomized, Parallel, Placebo-Controlled Study to Assess the Efficacy and Safety of MK-0859 When Added to Ongoing Statin Therapy With or Without Other Lipid Modifying Therapies in Japanese Patients With Heterozygous Familial Hypercholesterolemia Completed NCT01824238 Phase 3 Anacetrapib;Placebo for anacetrapib
22 A Phase IIIb, Efficacy, and Safety Study of Rosuvastatin in Children 10-17 Years of Age With Heterozygous Familial Hypercholesterolemia: a 12-week, Double-blind, Randomized, Multicenter, Placebo-controlled Study With a 40-week, Open-label, Follow-up Completed NCT00355615 Phase 3 Rosuvastatin;Placebo
23 An Efficacy and 2-Year Safety Study of Open-label Rosuvastatin in Children and Adolescents (Aged From 6 to Less Than 18 Years) With Familial Hypercholesterolaemia Completed NCT01078675 Phase 3 rosuvastatin calcium;rosuvastatin calcium;rosuvastatin calcium
24 A Double-blind, Randomized, Placebo-controlled, Multicenter Study to Evaluate Safety, Tolerability and Efficacy of AMG 145 on LDL-C in Subjects With Heterozygous Familial Hypercholesterolemia Completed NCT01763918 Phase 3 Placebo
25 A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of REGN727/SAR236553 in Patients With Heterozygous Familial Hypercholesterolemia Not Adequately Controlled With Their Lipid-Modifying Therapy Completed NCT01709500 Phase 3 LMT (atorvastatin, simvastatin, or rosuvastatin);alirocumab;Placebo
26 A Phase 3, Single-Arm, Open-Label, Multicenter Study to Evaluate the Efficacy and Safety of Lomitapide in Japanese Patients With Homozygous Familial Hypercholesterolemia (HoFH) on Concurrent Lipid-Lowering Therapy Completed NCT02173158 Phase 3 lomitapide
27 Long-Term, Open-Label, Safety and Tolerability Study of SCH 58235 in Addition to Atorvastatin or Simvastatin in the Therapy of Homozygous Familial Hypercholesterolemia Completed NCT03885921 Phase 3 Ezetimibe;Atorvastatin;Simvastatin
28 A Randomized, Double-blind, Placebo-controlled, Multi-center, Cross-over Study of Rosuvastatin in Children and Adolescents (Aged 6 to <18 Years) With Homozygous Familial Hypercholesterolemia (HoFH) Completed NCT02226198 Phase 3 Rosuvastatin 20mg;Placebo
29 Effect of Omega-3 Polyunsaturated Fat on Endothelial Function and Inflammatory Parameters in Familial Hypercholesterolemia - a Double Blind, Placebo-controlled Crossover Study Completed NCT01813006 Phase 3 Omega-3;placebo
30 A Multicenter, Open-label Study to Assess the Long-term Safety, Tolerability, and Efficacy of Evolocumab (AMG145) on LDL-C in Subjects With Severe Familial Hypercholesterolemia Completed NCT01624142 Phase 2, Phase 3
31 A Phase III, Long Term, Open Label, Follow on Study of Microsomal Triglyceride Transfer Protein (MTP) Inhibitor 'Lomitapide' (LOMITAPIDE) in Patients With Homozygous Familial Hypercholesterolemia Completed NCT00943306 Phase 3 lomitapide
32 An Open-Label Long-Term Extension to the Randomized, Double-blind, Placebo-controlled, Multi-center, Cross-over Study of Rosuvastatin in Children and Adolescents (Aged 6 to <18 Years) With Homozygous Familial Hypercholesterolemia (HoFH) Completed NCT02434497 Phase 3 Rosuvastatin 20mg
33 A Phase III Study of Microsomal Triglyceride Transfer Protein (MTP) Inhibitor AEGR-733 in Patients With Homozygous Familial Hypercholesterolemia on Current Lipid-lowering Therapy Completed NCT00730236 Phase 3 AEGR-733
34 NHLBI Type II Coronary Intervention Study Completed NCT00000594 Phase 3 cholestyramine
35 A Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of SAR236553/REGN727 in Patients With Heterozygous Familial Hypercholesterolemia Not Adequately Controlled With Their Lipid-Modifying Therapy Completed NCT01623115 Phase 3 Alirocumab;Placebo (for alirocumab);Lipid Modifying Therapy (LMT)
36 A Randomized, Double-blind, Placebo-controlled, Parallel Group, Multicenter Study to Evaluate the Efficacy and Safety of Alirocumab in Heterozygous Familial Hypercholesterolemia or High Cardiovascular Risk Patients With Hypercholesterolemia Not Adequately Controlled With Their Lipid Modifying Therapy Completed NCT02107898 Phase 3 Placebo (for alirocumab);Alirocumab;Lipid-Modifying Therapy (LMT)
37 A Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of SAR236553/REGN727 in Patients With Heterozygous Familial Hypercholesterolemia and LDL-C Higher or Equal to 160mg/dL With Their Lipid-Modifying Therapy Completed NCT01617655 Phase 3 Alirocumab;Placebo (for alirocumab);Lipid Modifying Therapy (LMT)
38 An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia Completed NCT00694109 Phase 3 Mipomersen Sodium
39 A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Safety and Efficacy of Mipomersen as Add-on Therapy in Homozygous Familial Hypercholesterolemia Subjects Completed NCT00607373 Phase 3 mipomersen;Placebo
40 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study Followed by an Open-Label Continuation Period to Assess the Safety and Efficacy of Two Different Regimens of Mipomersen in Patients With Familial Hypercholesterolemia and Inadequately Controlled Low-Density Lipoprotein Cholesterol Completed NCT01475825 Phase 3 mipomersen sodium 200 mg;Placebo;mipomersen sodium 70 mg
41 A Phase III, Clinical Trial to Assess the Long Term Safety and Tolerability of MK-0653C in Japanese Patients With Hypercholesterolemia Who Have Inadequate LDL-C Control on Ezetimibe or Atorvastatin Calcium Monotherapy Completed NCT02460159 Phase 3 EZ 10 mg/Atorva 20 mg FDC;EZ 10 mg/Atorva 10 mg FDC
42 A Phase III, Open-label, Clinical Trial to Assess the Long Term Safety and Tolerability of MK-0653H in Japanese Patients With Hypercholesterolemia Who Have Inadequate LDL-C Control on Ezetimibe or Rosuvastatin Monotherapy Completed NCT02748057 Phase 3 Ezetimibe;Rosuvastatin
43 Open-Label Extension Study of EFC12492, R727-CL-1112, EFC12732 and LTS11717 Studies to Assess the Long-Term Safety and Efficacy of Alirocumab in Patients With Heterozygous Familial Hypercholesterolemia Completed NCT01954394 Phase 3 Alirocumab;Lipid-Modifying Therapy (LMT)
44 SUPREME: A 12-Week, Open-Label, Multicenter Study to Compare the Lipid Effects of Niacin ER and Simvastatin (NS) to Atorvastatin in Subjects With Hyperlipidemia or Mixed Dyslipidemia Completed NCT00465088 Phase 3 Niacin ER/Simvastatin Tablets;atorvastatin
45 Comparative Pilot Study of the Effectiveness of Evolocumab Versus LDL Apheresis in Patients With Hypercholesterolemia Completed NCT03429998 Phase 3 evolocumab;evolocumab and LDL apheresis
46 A Randomized, Double-Blind, Parallel Group, Multicenter Study to Evaluate the Efficacy and Safety of Bempedoic Acid (ETC-1002) 180 mg Compared to Placebo Added to Background Lipid-Modifying Therapy in Patients With Elevated LDL-C Who Are Statin Intolerant Completed NCT02988115 Phase 3 bempedoic acid
47 A Randomized, Actively Controlled, Open-label, Multicenter Study of Efficacy and Safety of Evolocumab Compared With Low Density Lipoprotein Cholesterol (LDL-C) Apheresis, Followed by Single-Arm Evolocumab Administration in Subjects Receiving LDL-C Apheresis Prior to Study Enrollment Completed NCT02585895 Phase 3
48 Effect of Combination Ezetimibe and High-Dose Simvastatin vs Simvastatin Alone on the Atherosclerotic Process in Subjects With Heterozygous Familial Hypercholesterolemia (The ENHANCE Trial) Completed NCT00552097 Phase 3 ezetimibe (plus simvastatin);placebo (plus simvastatin)
49 A Randomized, Double-Blind, Parallel Group Study to Evaluate the Efficacy and Safety of Bempedoic Acid 180 Mg + Ezetimibe 10 Mg Fixed-Dose Combination Compared to Bempedoic Acid, Ezetimibe, and Placebo Alone in Patients Treated With Maximally Tolerated Statin Therapy Completed NCT03337308 Phase 3 Bempedoic Acid;Ezetimibe;Placebos
50 A Long-term, Randomized, Double-blind, Placebo-controlled, Multicenter Study to Evaluate the Efficacy of Bempedoic Acid (ETC-1002) in Patients With Hyperlipidemia at High Cardiovascular Risk Not Adequately Controlled by Their Lipid-Modifying Therapy Completed NCT02991118 Phase 3 bempedoic acid;placebo

Search NIH Clinical Center for Familial Hypercholesterolemia

Inferred drug relations via UMLS 72 / NDF-RT 51 :


ezetimibe

Cochrane evidence based reviews: hyperlipoproteinemia type ii

Genetic Tests for Familial Hypercholesterolemia

Genetic tests related to Familial Hypercholesterolemia:

# Genetic test Affiliating Genes
1 Familial Hypercholesterolemia 29 APOA2 EPHX2 GHR LDLR PPP1R17
2 Familial Hypercholesterolemias 29

Anatomical Context for Familial Hypercholesterolemia

MalaCards organs/tissues related to Familial Hypercholesterolemia:

41
Heart, Liver, Endothelial, Testes, Skin, Bone, Monocytes

Publications for Familial Hypercholesterolemia

Articles related to Familial Hypercholesterolemia:

(show top 50) (show all 5011)
# Title Authors PMID Year
1
Functional analysis of sites within PCSK9 responsible for hypercholesterolemia. 9 38 4
18354137 2008
2
Genetic basis of familial dyslipidemia and hypertension: 15-year results from Utah. 9 38 4
8297539 1993
3
Child-Parent Familial Hypercholesterolemia Screening in Primary Care. 38 4
27783906 2016
4
Effects of Liver Transplantation on Lipids and Cardiovascular Disease in Children With Homozygous Familial Hypercholesterolemia. 38 4
27365335 2016
5
Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia. 38 4
27182539 2016
6
Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry. 38 4
27013694 2016
7
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia. 38 4
27050191 2016
8
Phenotype diversity among patients with homozygous familial hypercholesterolemia: A cohort study. 38 4
27017151 2016
9
Combined hyperlipidemia: familial but not (usually) monogenic. 38 4
26709473 2016
10
Current familial hypercholesterolemia diagnostic criteria underdiagnose APOB mutations: Lessons from the Amish community. 38 4
27055977 2016
11
Attainment of LDL-Cholesterol Treatment Goals in Patients With Familial Hypercholesterolemia: 5-Year SAFEHEART Registry Follow-Up. 38 4
26988947 2016
12
The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association. 38 4
26510694 2015
13
APOE p.Leu167del mutation in familial hypercholesterolemia. 38 4
24267230 2013
14
Statin treatment of children with familial hypercholesterolemia--trying to balance incomplete evidence of long-term safety and clinical accountability: are we approaching a consensus? 38 4
23141908 2013
15
Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. 38 4
22893714 2012
16
Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment. 38 4
22881376 2012
17
Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. 38 4
22398274 2012
18
Discriminative ability of LDL-cholesterol to identify patients with familial hypercholesterolemia: a cross-sectional study in 26,406 individuals tested for genetic FH. 38 4
22553281 2012
19
Guidelines for the management of familial hypercholesterolemia. 38 4
23095242 2012
20
Effect of lipid-lowering treatment on natural history of heterozygous familial hypercholesterolemia in past three decades. 38 4
21545982 2011
21
Familial hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. 38 4
21600530 2011
22
Cascade Screening for Familial Hypercholesterolemia (FH). 38 4
21633520 2011
23
Familial hypercholesterolemia: the lipids or the genes? 38 4
21513517 2011
24
The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations. 38 4
23776352 2010
25
Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. 38 4
18325082 2008
26
Simvastatin with or without ezetimibe in familial hypercholesterolemia. 38 4
18376000 2008
27
Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response. 38 4
16224054 2005
28
LDL-receptor mutations in Europe. 38 4
15523646 2004
29
Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. 38 4
15321837 2004
30
Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. 38 4
15177124 2004
31
The Delta>15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid polymerase chain reaction-based diagnostic assay and prevalence in Quebec. 38 4
14756670 2004
32
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. 9 4
12730697 2003
33
Risk of fatal stroke in patients with treated familial hypercholesterolemia: a prospective registry study. 38 4
12511745 2003
34
High lipoprotein(a) as a possible cause of clinical familial hypercholesterolaemia: a prospective cohort study. 4
27185354 2016
35
Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial. 4
25282520 2015
36
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. 4
25053660 2014
37
2013 ACC/AHA guideline on the treatment of blood cholesterol to reduce atherosclerotic cardiovascular risk in adults: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. 4
24239923 2014
38
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. 4
23956253 2013
39
Relationship of lipoproteins to cardiovascular events: the AIM-HIGH Trial (Atherothrombosis Intervention in Metabolic Syndrome With Low HDL/High Triglycerides and Impact on Global Health Outcomes). 4
23916935 2013
40
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. 4
23433573 2013
41
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 4
23375686 2013
42
Cardiovascular profile of xanthelasma palpebrarum. 4
23865074 2013
43
Lomitapide for homozygous familial hypercholesterolaemia. 4
23122767 2013
44
Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia. 4
22408029 2012
45
Discrepancies in reporting the CAG repeat lengths for Huntington's disease. 4
21811303 2012
46
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk. 4
21862702 2011
47
ESC/EAS Guidelines for the management of dyslipidaemias: the Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS). 4
21712404 2011
48
Clinical aspects of PCSK9. 4
21596380 2011
49
Case series of type III hyperlipoproteinemia in children. 4
22691586 2011
50
Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy. 9 38
20045108 2010

Variations for Familial Hypercholesterolemia

ClinVar genetic disease variations for Familial Hypercholesterolemia:

6 (show top 50) (show all 3697)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LDLR NM_000527.4(LDLR): c.2482dup (p.Tyr828fs) duplication Pathogenic rs1057519690 19:11240281-11240281 19:11129605-11129605
2 LDLR NM_000527.4(LDLR): c.2001del (p.Cys667fs) deletion Pathogenic rs1060500988 19:11231059-11231059 19:11120383-11120383
3 LDLR NM_000527.4(LDLR): c.1272del (p.Asn425fs) deletion Pathogenic rs1060500987 19:11224039-11224039 19:11113363-11113363
4 LDLR NM_000527.4(LDLR): c.2376del (p.Ile792fs) deletion Pathogenic rs1135402785 19:11238748-11238748 19:11128072-11128072
5 LDLR NM_000527.4(LDLR): c.2366_2367CT[3] (p.Ser791fs) short repeat Pathogenic rs1135402784 19:11238740-11238741 19:11128064-11128065
6 LDLR deletion Pathogenic 19:11211022-11224439 :0-0
7 LDLR NM_000527.4(LDLR): c.-229_-90del deletion Pathogenic rs1555800611 19:11199996-11200135 19:11089320-11089459
8 LDLR NM_000527.4(LDLR): c.2141-2A> G single nucleotide variant Pathogenic rs1135402780 19:11233848-11233848 19:11123172-11123172
9 LDLR NM_000527.4(LDLR): c.1885_1886insA (p.Phe629fs) insertion Pathogenic rs1135402779 19:11230807-11230808 19:11120131-11120132
10 LDLR NM_000527.4(LDLR): c.1804G> T (p.Glu602Ter) single nucleotide variant Pathogenic rs1135402778 19:11227633-11227633 19:11116957-11116957
11 LDLR NM_000527.4(LDLR): c.1673_1676del (p.Glu558fs) deletion Pathogenic rs1135402777 19:11226856-11226859 19:11116180-11116183
12 LDLR NM_000527.4(LDLR): c.1573_1586+5del deletion Pathogenic rs1135402776 19:11224425-11224443 19:11113749-11113767
13 LDLR NM_000527.4(LDLR): c.1474del (p.Asp492fs) deletion Pathogenic rs1135402774 19:11224326-11224326 19:11113650-11113650
14 LDLR NM_000527.4(LDLR): c.1162dup (p.His388fs) duplication Pathogenic rs875989917 19:11222291-11222291 19:11111615-11111615
15 LDLR NM_000527.4(LDLR): c.1158_1162dup (p.His388fs) duplication Pathogenic rs875989917 19:11222287-11222291 19:11111611-11111615
16 LDLR NM_000527.4(LDLR): c.949dup (p.Glu317fs) duplication Pathogenic rs1135402769 19:11221336-11221336 19:11110660-11110660
17 LDLR NM_000527.4(LDLR): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs1135402768 19:11216069-11216069 19:11105393-11105393
18 LDLR NM_000527.4(LDLR): c.67+1G> A single nucleotide variant Pathogenic rs762417023 19:11200292-11200292 19:11089616-11089616
19 LDLR NM_000527.4(LDLR): c.2312-?_2389+?del deletion Pathogenic 19:11236353-11239475 :0-0
20 LDLR NM_000527.4(LDLR): c.2141-?_2389+?del deletion Pathogenic 19:11233850-11239475 :0-0
21 APOB NM_000384.3(APOB): c.10580G> T (p.Arg3527Leu) single nucleotide variant Pathogenic rs5742904 2:21229160-21229160 2:21006288-21006288
22 APOB NM_000384.3(APOB): c.2786dup (p.Arg931fs) duplication Pathogenic rs1553385404 2:21245733-21245733 2:21022861-21022861
23 APOB NM_000384.3(APOB): c.2297_2298del (p.Lys766fs) deletion Pathogenic rs1553385715 2:21247943-21247944 2:21025071-21025072
24 LDLR NM_000527.4(LDLR): c.-193_-187delinsTG indel Pathogenic rs1555800620 19:11200032-11200038 19:11089356-11089362
25 LDLR NM_000527.4(LDLR): c.-172G> A single nucleotide variant Pathogenic rs1555800629 19:11200053-11200053 19:11089377-11089377
26 LDLR NM_000527.4(LDLR): c.-151C> G single nucleotide variant Pathogenic rs1555800631 19:11200074-11200074 19:11089398-11089398
27 LDLR NM_000527.4(LDLR): c.-150A> G single nucleotide variant Pathogenic rs1555800632 19:11200075-11200075 19:11089399-11089399
28 LDLR NM_000527.4(LDLR): c.-98C> T single nucleotide variant Pathogenic rs1555800648 19:11200127-11200127 19:11089451-11089451
29 LDLR NM_000527.4(LDLR): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs879254383 19:11200227-11200227 19:11089551-11089551
30 LDLR NM_000527.4(LDLR): c.29G> A (p.Trp10Ter) single nucleotide variant Pathogenic rs1555800724 19:11200253-11200253 19:11089577-11089577
31 LDLR NM_000527.4(LDLR): c.68_190del123 (p.Gly24_Leu64del) deletion Pathogenic rs1555802242 19:11210899-11211021 19:11100223-11100345
32 LDLR NM_000527.4(LDLR): c.79T> C (p.Cys27Arg) single nucleotide variant Pathogenic rs1555802245 19:11210910-11210910 19:11100234-11100234
33 LDLR NM_000527.4(LDLR): c.90_91insTGTGTTT (p.Glu31delinsCysValTer) insertion Pathogenic rs1555802258 19:11210921-11210922 19:11100245-11100246
34 LDLR NM_000527.4(LDLR): c.132G> A (p.Trp44Ter) single nucleotide variant Pathogenic rs1555802287 19:11210963-11210963 19:11100287-11100287
35 LDLR NM_000527.4(LDLR): c.139G> C (p.Asp47His) single nucleotide variant Pathogenic rs778284147 19:11210970-11210970 19:11100294-11100294
36 LDLR NM_000527.4(LDLR): c.172G> T (p.Glu58Ter) single nucleotide variant Pathogenic rs879254423 19:11211003-11211003 19:11100327-11100327
37 LDLR NM_000527.4(LDLR): c.188G> T (p.Cys63Phe) single nucleotide variant Pathogenic rs879254427 19:11211019-11211019 19:11100343-11100343
38 LDLR NM_000527.4(LDLR): c.191-1G> T single nucleotide variant Pathogenic rs879254433 19:11213339-11213339 19:11102663-11102663
39 LDLR NM_000527.4(LDLR): c.248T> C (p.Ile83Thr) single nucleotide variant Pathogenic rs1555802745 19:11213397-11213397 19:11102721-11102721
40 LDLR NM_000527.4(LDLR): c.259T> C (p.Trp87Arg) single nucleotide variant Pathogenic rs121908025 19:11213408-11213408 19:11102732-11102732
41 LDLR NM_000527.4(LDLR): c.262A> G (p.Arg88Gly) single nucleotide variant Pathogenic rs200660051 19:11213411-11213411 19:11102735-11102735
42 LDLR NM_000527.4(LDLR): c.263G> A (p.Arg88Lys) single nucleotide variant Pathogenic rs1398808477 19:11213412-11213412 19:11102736-11102736
43 LDLR NM_000527.4(LDLR): c.269A> C (p.Asp90Ala) single nucleotide variant Pathogenic rs771019366 19:11213418-11213418 19:11102742-11102742
44 LDLR NM_000527.4(LDLR): c.300C> G (p.Asp100Glu) single nucleotide variant Pathogenic rs766709484 19:11213449-11213449 19:11102773-11102773
45 LDLR NM_000527.4(LDLR): c.313+4_313+16del deletion Pathogenic rs1555802822 19:11213466-11213478 19:11102790-11102802
46 LDLR NM_000527.4(LDLR): c.115T> C (p.Cys39Arg) single nucleotide variant Pathogenic rs1555802275 19:11210946-11210946 19:11100270-11100270
47 APOB NM_000384.3(APOB): c.39del (p.Leu14fs) deletion Pathogenic rs1135402762 2:21266779-21266779 2:21043907-21043907
48 APOB NM_000384.3(APOB): c.3012del (p.Glu1004fs) deletion Pathogenic rs1135402764 2:21241973-21241973 2:21019101-21019101
49 APOB NM_000384.3(APOB): c.4590del (p.Asn1531fs) deletion Pathogenic rs1135402765 2:21235150-21235150 2:21012278-21012278
50 APOB NM_000384.3(APOB): c.4651C> T (p.Gln1551Ter) single nucleotide variant Pathogenic rs142017360 2:21235089-21235089 2:21012217-21012217

Copy number variations for Familial Hypercholesterolemia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 124514 19 11061056 11105505 Copy number LDLR Familial hypercholesterolemia
2 124217 19 1 6900000 Deletion LDLR Familial hypercholesterolemia

Expression for Familial Hypercholesterolemia

Search GEO for disease gene expression data for Familial Hypercholesterolemia.

Pathways for Familial Hypercholesterolemia

Pathways related to Familial Hypercholesterolemia according to KEGG:

37
# Name Kegg Source Accession
1 Bile secretion hsa04976
2 Endocytosis hsa04144
3 Ovarian steroidogenesis hsa04913

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 PCSK9 MTTP LPL LPA LIPC LDLRAP1
2
Show member pathways
12.71 LPL HMGCR APOA2 APOA1 ABCA1
3
Show member pathways
12.51 LPL LDLR APOE APOB APOA2 APOA1
4
Show member pathways
12.34 PCSK9 MTTP LPL LPA LIPC LDLRAP1
5
Show member pathways
12.19 LDLR APOE APOB APOA1 ABCA1
6
Show member pathways
12.06 LPL LDLR APOE APOB APOA2 APOA1
7
Show member pathways
11.72 APOE APOB APOA1
8 11.57 LPL APOA2 APOA1
9
Show member pathways
11.57 PCSK9 MTTP LPL LPA LIPC LDLRAP1
10 11.53 LPL LDLR HMGCR
11
Show member pathways
11.27 MTTP APOB APOA1 ABCA1
12 10.86 LDLR HMGCR ABCA1
13 10.82 APOA2 APOA1 ABCA1
14
Show member pathways
10.26 PCSK9 LDLR

GO Terms for Familial Hypercholesterolemia

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.91 PCSK9 MTTP LIPC APOE APOB APOA2
2 early endosome GO:0005769 9.87 PCSK9 LDLRAP1 LDLR APOE APOB APOA2
3 clathrin-coated endocytic vesicle membrane GO:0030669 9.69 LDLR APOE APOB
4 endocytic vesicle lumen GO:0071682 9.61 APOE APOB APOA1
5 intermediate-density lipoprotein particle GO:0034363 9.58 APOE APOB APOA1
6 endolysosome membrane GO:0036020 9.56 PCSK9 LDLR
7 low-density lipoprotein particle GO:0034362 9.56 LDLR APOE APOB APOA1
8 spherical high-density lipoprotein particle GO:0034366 9.55 APOA2 APOA1
9 very-low-density lipoprotein particle GO:0034361 9.55 LPL APOE APOB APOA2 APOA1
10 discoidal high-density lipoprotein particle GO:0034365 9.52 APOE APOA1
11 PCSK9-LDLR complex GO:1990666 9.49 PCSK9 LDLR
12 chylomicron GO:0042627 9.35 LPL APOE APOB APOA2 APOA1
13 high-density lipoprotein particle GO:0034364 9.1 LIPC LCAT CETP APOE APOA2 APOA1
14 extracellular region GO:0005576 10.22 PCSK9 LPL LPA LIPC LCAT GHR
15 extracellular space GO:0005615 10.16 PCSK9 LPL LIPC LCAT GHR CETP
16 cell surface GO:0009986 10.01 PCSK9 LPL LDLR GHR APOA1 ABCA1

Biological processes related to Familial Hypercholesterolemia according to GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Name GO ID Score Top Affiliating Genes
1 triglyceride homeostasis GO:0070328 9.97 LPL LIPC CETP APOE APOA1
2 triglyceride catabolic process GO:0019433 9.97 LPL LIPC APOE APOB APOA1
3 high-density lipoprotein particle remodeling GO:0034375 9.97 LIPC LCAT CETP APOE APOA2 APOA1
4 lipoprotein metabolic process GO:0042157 9.97 PCSK9 MTTP LDLR APOE APOB APOA2
5 cholesterol transport GO:0030301 9.97 LIPC LDLRAP1 LDLR LCAT CETP APOB
6 regulation of lipid metabolic process GO:0019216 9.96 HMGCR APOA2 APOA1 ABCA1
7 cholesterol efflux GO:0033344 9.96 APOE APOB APOA2 APOA1 ABCA1
8 steroid metabolic process GO:0008202 9.96 PCSK9 LDLRAP1 LDLR LCAT HMGCR CETP
9 phospholipid metabolic process GO:0006644 9.95 PCSK9 LPL LCAT APOA1
10 low-density lipoprotein particle remodeling GO:0034374 9.95 LPA LIPC CETP APOE APOB APOA2
11 reverse cholesterol transport GO:0043691 9.95 LIPC LCAT CETP APOE APOA2 APOA1
12 retinoid metabolic process GO:0001523 9.94 APOE APOB APOA2 APOA1
13 chylomicron assembly GO:0034378 9.93 MTTP APOE APOB APOA2 APOA1
14 cholesterol metabolic process GO:0008203 9.93 PCSK9 LIPC LDLRAP1 LDLR LCAT HMGCR
15 low-density lipoprotein particle clearance GO:0034383 9.92 PCSK9 LDLRAP1 LDLR APOB
16 chylomicron remodeling GO:0034371 9.92 LPL APOE APOB APOA2 APOA1
17 membrane organization GO:0061024 9.91 LDLRAP1 LDLR APOB
18 lipid catabolic process GO:0016042 9.91 LPL LIPC APOB
19 high-density lipoprotein particle assembly GO:0034380 9.91 APOE APOA2 APOA1 ABCA1
20 lipoprotein biosynthetic process GO:0042158 9.91 LCAT APOE APOB APOA1 ABCA1
21 very-low-density lipoprotein particle remodeling GO:0034372 9.91 LPL LIPC LCAT CETP APOE APOA1
22 response to nutrient GO:0007584 9.9 HMGCR APOA1 ABCA1
23 phospholipid efflux GO:0033700 9.9 APOE APOA2 APOA1 ABCA1
24 high-density lipoprotein particle clearance GO:0034384 9.89 LDLR APOE APOA2 APOA1
25 chylomicron remnant clearance GO:0034382 9.88 LIPC LDLR APOE APOB
26 cholesterol biosynthetic process GO:0006695 9.86 HMGCR APOE APOA1
27 phosphatidylcholine biosynthetic process GO:0006656 9.85 LCAT APOA2 APOA1
28 regulation of cholesterol metabolic process GO:0090181 9.82 LDLR EPHX2 APOE
29 phospholipid homeostasis GO:0055091 9.81 CETP APOA1 ABCA1
30 positive regulation of cholesterol esterification GO:0010873 9.81 APOE APOA2 APOA1
31 regulation of Cdc42 protein signal transduction GO:0032489 9.8 APOE APOA1 ABCA1
32 cholesterol homeostasis GO:0042632 9.8 PCSK9 MTTP LPL LIPC LDLRAP1 LDLR
33 lipoprotein catabolic process GO:0042159 9.79 LDLR APOE APOB
34 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.74 LDLR ABCA1
35 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.73 LPL APOB
36 positive regulation of lipid biosynthetic process GO:0046889 9.73 APOE APOA1
37 positive regulation of cholesterol efflux GO:0010875 9.73 APOE ABCA1
38 phosphatidylcholine metabolic process GO:0046470 9.73 LCAT CETP
39 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.73 CETP ABCA1
40 regulation of protein metabolic process GO:0051246 9.72 LDLR APOE
41 very-low-density lipoprotein particle assembly GO:0034379 9.72 MTTP APOB
42 protein lipidation GO:0006497 9.72 MTTP ABCA1
43 amyloid precursor protein metabolic process GO:0042982 9.72 LDLRAP1 APOE
44 regulation of lipoprotein lipase activity GO:0051004 9.71 LPL LIPC
45 regulation of cholesterol transport GO:0032374 9.71 APOE APOA1
46 positive regulation of cholesterol storage GO:0010886 9.71 LPL APOB
47 very-low-density lipoprotein particle clearance GO:0034447 9.71 APOE APOB
48 peptidyl-methionine modification GO:0018206 9.71 APOA2 APOA1
49 negative regulation of cytokine secretion involved in immune response GO:0002740 9.7 APOA2 APOA1
50 cholesterol import GO:0070508 9.7 LDLR APOA1

Molecular functions related to Familial Hypercholesterolemia according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.91 LPL LPA LIPC APOE APOB
2 lipid binding GO:0008289 9.89 MTTP CETP APOE APOA2 APOA1
3 amyloid-beta binding GO:0001540 9.83 LDLRAP1 LDLR APOE APOA1
4 phospholipid binding GO:0005543 9.8 STAP1 APOE APOB APOA2 APOA1 ABCA1
5 phospholipid transporter activity GO:0005548 9.73 MTTP CETP APOA1 ABCA1
6 low-density lipoprotein particle binding GO:0030169 9.71 PCSK9 LIPC LDLR
7 low-density lipoprotein particle receptor binding GO:0050750 9.71 PCSK9 LDLRAP1 APOE APOB
8 high-density lipoprotein particle binding GO:0008035 9.65 APOA2 APOA1 ABCA1
9 cholesterol binding GO:0015485 9.65 CETP APOE APOA2 APOA1 ABCA1
10 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.63 APOE APOA2 APOA1
11 cholesterol transporter activity GO:0017127 9.63 CETP APOE APOB APOA2 APOA1 ABCA1
12 triglyceride lipase activity GO:0004806 9.62 LPL LIPC
13 signaling adaptor activity GO:0035591 9.61 STAP1 LDLRAP1
14 phospholipase activity GO:0004620 9.6 LPL LIPC
15 lipoprotein particle binding GO:0071813 9.59 APOE APOA1
16 lipase inhibitor activity GO:0055102 9.58 APOA2 APOA1
17 very-low-density lipoprotein particle receptor binding GO:0070326 9.58 PCSK9 APOE
18 apolipoprotein A-I binding GO:0034186 9.57 LCAT ABCA1
19 high-density lipoprotein particle receptor binding GO:0070653 9.56 APOA2 APOA1
20 triglyceride binding GO:0017129 9.55 LPL CETP
21 apolipoprotein receptor binding GO:0034190 9.54 PCSK9 APOA2 APOA1
22 apolipoprotein binding GO:0034185 9.43 PCSK9 MTTP LPL LPA LIPC ABCA1
23 lipid transporter activity GO:0005319 9.17 MTTP CETP APOE APOB APOA2 APOA1
24 protein binding GO:0005515 10.51 STAP1 PCSK9 MTTP LPL LPA LDLRAP1

Sources for Familial Hypercholesterolemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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