FH
MCID: FML021
MIFTS: 68

Familial Hypercholesterolemia (FH)

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

Aliases & Classifications for Familial Hypercholesterolemia

MalaCards integrated aliases for Familial Hypercholesterolemia:

Name: Familial Hypercholesterolemia 12 24 52 25 36 29 6 15 37 17
Hyperlipoproteinemia Type Iia 24 52 36
Hypercholesterolemia, Autosomal Dominant 24 54
Familial Hypercholesterolemic Xanthomatosis 52
Fredrickson Type Iia Hyperlipoproteinemia 12
Familial Hyperbetalipoproteinaemia 12
Hyper-Low Density-Lipoproteinemia 52
Fredrickson Type Iia Lipidaemia 12
Familial Hypercholesterolaemia 25
Familial Hypercholesterolemias 29
Hypercholesterolemia, Familial 39
Hyperlipoproteinemia, Type Ii 52
Familial Hypercholesterolæmia 24
Hypercholesterolemia Familial 54
Hyperlipoproteinemia Type Ii 43
Familial Hypercholesteremia 12
Hyperbetalipoproteinemia 12
Type Ii Hyperlipidemia 12
Fh 25

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 43 D006938
NCIt 49 C34704
SNOMED-CT 67 31654005
ICD10 32 E78.00 E78.01
UMLS 71 C0020445

Summaries for Familial Hypercholesterolemia

Genetics Home Reference : 25 Familial hypercholesterolemia is an inherited condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. In people with familial hypercholesterolemia, the body is unable to get rid of extra cholesterol, and it builds up in the blood. Too much cholesterol increases a person's risk of developing heart disease. People with familial hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease at a young age. This condition occurs when excess cholesterol in the bloodstream is deposited on the inner walls of blood vessels, particularly the arteries that supply blood to the heart (coronary arteries). The abnormal buildup of cholesterol forms clumps (plaques) that narrow and harden artery walls. As the plaques get bigger, they can clog the arteries and restrict the flow of blood to the heart. The buildup of plaques in coronary arteries causes a form of chest pain called angina and greatly increases a person's risk of having a heart attack. Familial hypercholesterolemia can also cause health problems related to the buildup of excess cholesterol in tissues other than the heart and blood vessels. If cholesterol accumulates in the tissues that attach muscles to bones (tendons), it causes characteristic growths called tendon xanthomas. These growths most often affect the Achilles tendons, which attach the calf muscles to the heels, and tendons in the hands and fingers. Yellowish cholesterol deposits can develop under the skin of the eyelids and are known as xanthelasmata. Cholesterol can also accumulate at the edges of the clear, front surface of the eye (the cornea), leading to a gray-colored ring called an arcus cornealis.

MalaCards based summary : Familial Hypercholesterolemia, also known as hyperlipoproteinemia type iia, is related to homozygous familial hypercholesterolemia and hypercholesterolemia, familial, 1. 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 Liver, heart and skin, and related phenotypes are Decreased viability and Decreased viability

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

NIH Rare Diseases : 52 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.

KEGG : 36 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 : 74 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 439)
# Related Disease Score Top Affiliating Genes
1 homozygous familial hypercholesterolemia 35.0 PCSK9 LIPC LDLRAP1 LDLR HMGCR APOE
2 hypercholesterolemia, familial, 1 34.5 PPP1R17 PCSK9 LPL LPA LIPC LDLRAP1
3 hypercholesterolemia, familial, 4 34.2 PCSK9 LDLRAP1 LDLR
4 hyperlipoproteinemia, type iii 33.9 LPL LPA LIPC LDLR CETP APOE
5 hyperlipidemia, familial combined, 3 33.8 LPL LIPC LDLR LCAT COG2 CETP
6 hypercholesterolemia, familial, 2 33.8 LDLR APOE APOB
7 coronary heart disease 1 32.3 LPL LPA LIPC LDLR LCAT HMGCR
8 atherosclerosis susceptibility 32.2 PCSK9 LPL LPA LIPC LDLR LCAT
9 arteries, anomalies of 32.1 LPA COG2 CETP APOE APOB APOA1
10 coronary artery anomaly 32.1 LPA HMGCR COG2 APOB APOA1
11 xanthomatosis 32.0 LPL LPA LDLRAP1 LDLR HMGCR APOE
12 lipid metabolism disorder 31.9 PCSK9 MTTP LPL LPA LIPC LDLR
13 defective apolipoprotein b-100 31.9 PCSK9 LDLR LCAT HMGCR APOE APOB
14 vascular disease 31.8 PCSK9 LPL LPA LIPC LDLR LCAT
15 heart disease 31.8 LPL LPA LDLR HMGCR COG2 CETP
16 coronary stenosis 31.7 PCSK9 LPL CETP APOE APOB APOA1
17 hypertriglyceridemia, familial 31.7 LPL LIPC CETP APOE APOB APOA2
18 arteriosclerosis 31.6 LPA LDLR HMGCR COG2 APOE APOB
19 myocardial infarction 31.6 PCSK9 LPL LPA LIPC LDLR LCAT
20 peripheral vascular disease 31.6 LPA LCAT HMGCR COG2 CETP APOB
21 cardiovascular system disease 31.6 PCSK9 MTTP LPL LPA LIPC LDLR
22 intermediate coronary syndrome 31.5 PCSK9 LPA COG2 APOB APOA1
23 sitosterolemia 31.5 PCSK9 MTTP LDLRAP1 HMGCR APOB APOA1
24 familial hyperlipidemia 31.4 MTTP LPL LPA LIPC LDLR LCAT
25 peripheral artery disease 31.4 PCSK9 APOE APOB APOA1
26 inherited metabolic disorder 31.4 PCSK9 MTTP LPL LPA LDLR HMGCR
27 hyperalphalipoproteinemia 1 31.3 LPL LIPC LDLR LCAT CETP APOE
28 cerebrovascular disease 31.3 LPL LPA LDLR APOE APOB APOA1
29 chronic kidney disease 31.3 LPL LPA LIPC LCAT CETP APOE
30 hypobetalipoproteinemia, familial, 1 31.3 PCSK9 MTTP COG2 APOB APOA1
31 hypoalphalipoproteinemia 31.3 LIPC LCAT APOA2 APOA1 ABCA1
32 aortic atherosclerosis 31.2 LPL LPA LIPC LDLR CETP APOE
33 aortic valve disease 2 31.2 PCSK9 LPA APOB
34 hypothyroidism 31.2 LPL LPA LIPC LDLR GHR COG2
35 kidney disease 31.1 LPA LCAT HMGCR GHR COG2 CETP
36 generalized atherosclerosis 31.1 LPA COG2 APOE APOB
37 familial combined hyperlipoproteinemia 31.1 LPL APOB APOA1
38 diabetes mellitus 31.1 LPL LPA LIPC LCAT HMGCR GHR
39 hypolipoproteinemia 31.1 PCSK9 MTTP LPL LPA LCAT COG2
40 stroke, ischemic 31.1 LPA LDLR HMGCR COG2 APOE APOB
41 carotid artery disease 31.1 LPA COG2 APOE APOB APOA2 APOA1
42 cerebral atherosclerosis 31.1 LPA APOE APOA1
43 macular degeneration, age-related, 1 31.1 LIPC CETP APOE APOB ABCA1
44 acute myocardial infarction 31.0 LPA HMGCR APOB APOA1
45 arcus corneae 31.0 PCSK9 MTTP LPA LDLRAP1 LDLR LCAT
46 abetalipoproteinemia 30.9 PCSK9 MTTP LPL LPA LDLR LCAT
47 diabetes mellitus, noninsulin-dependent 30.8 PCSK9 MTTP LPL LPA LIPC LDLR
48 huntington disease-like 1 30.8 LPA LCAT CETP APOE APOB APOA2
49 hepatic lipase deficiency 30.7 LPL LIPC APOE APOA1
50 tangier disease 30.7 LPL LPA LCAT CETP APOE APOB

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 viability GR00221-A-1 10.25 PPP1R17
2 Decreased viability GR00221-A-2 10.25 PPP1R17
3 Decreased viability GR00221-A-4 10.25 PPP1R17
4 Decreased viability GR00240-S-1 10.25 STAP1
5 Decreased viability GR00381-A-1 10.25 PPP1R17
6 Decreased viability GR00402-S-2 10.25 ABCA1 APOA1 APOA2 APOB APOE CETP
7 Decreased free cholesterol GR00340-A-2 10.03 ABCA1 APOA1 APOB APOE CETP HMGCR
8 no effect GR00402-S-1 9.62 ABCA1 APOA1 APOA2 APOB APOE CETP
9 Increased LDL uptake GR00340-A-1 9.26 APOA1 APOE LDLR LPL

MGI Mouse Phenotypes related to Familial Hypercholesterolemia:

45
# 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 105)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
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 Colesevelam Hydrochloride Phase 4
6 calcium heparin Phase 4
7 Cytochrome P-450 CYP3A Inhibitors Phase 4
8 Cytochrome P-450 Enzyme Inhibitors Phase 4
9 Hormone Antagonists Phase 4
10 Antifungal Agents Phase 4
11 Steroid Synthesis Inhibitors Phase 4
12 Cytochrome P-450 CYP2C9 Inhibitors Phase 4
13 Hypolipidemic Agents Phase 4
14 Antibodies, Monoclonal Phase 4
15 Immunologic Factors Phase 4
16 Anticholesteremic Agents Phase 4
17 Lipid Regulating Agents Phase 4
18 Antimetabolites Phase 4
19 Antibodies Phase 4
20 Immunoglobulins Phase 4
21
Mipomersen Approved, Investigational Phase 3 1000120-98-8
22
Esomeprazole Approved, Investigational Phase 3 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594
23
Pitavastatin Approved Phase 3 147511-69-1, 147526-32-7 6366718 5282452
24
Calcium polycarbophil Approved Phase 3 126040-58-2
25
Colestipol Approved Phase 3 26658-42-4
26
Atorvastatin Approved Phase 3 134523-00-5 60823
27
Nitroglycerin Approved, Investigational Phase 3 55-63-0 4510
28 sodium fluoride Approved Phase 3 7681-49-4
29
Metoprolol Approved, Investigational Phase 3 51384-51-1, 37350-58-6 4171
30
Simvastatin Approved Phase 3 79902-63-9 54454
31
Pravastatin Approved Phase 3 81093-37-0 54687
32
Lovastatin Approved, Investigational Phase 3 75330-75-5 53232
33
Fenofibrate Approved Phase 3 49562-28-9 3339
34
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
35
Ezetimibe Approved Phase 3 163222-33-1 150311
36
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
37
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
38
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
39
Torcetrapib Investigational Phase 3 262352-17-0 159325
40 Bococizumab Investigational Phase 3 1407495-02-6
41
Anacetrapib Investigational Phase 3 875446-37-0
42 Ezetimibe, Simvastatin Drug Combination Phase 3
43 Olive Phase 3
44 acivicin Phase 3
45 Psyllium Phase 3
46 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
47 Anti-Infective Agents Phase 3
48 Fluorides Phase 3
49 Adrenergic beta-Antagonists Phase 3
50 Protective Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 214)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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)
4 Post Marketing Surveillance Study for LDL Apheresis Using H.E.L.P. Therapy Completed NCT00916643 Phase 4
5 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
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 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
11 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
12 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
13 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
14 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
15 Efficacy and Safety of Fluvastatin in Children With Heterozygous Familial Hypercholesterolemia Completed NCT00171236 Phase 3 Fluvastatin
16 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
17 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
18 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
19 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)
20 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
21 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
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 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
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 Double-blind, Randomized, Multicenter, Placebo-Controlled Study to Characterize the Efficacy, Safety, and Tolerability of 24 Weeks of Evolocumab for LDL-C Reduction in Pediatric Subjects 10 to 17 Years of Age With HeFH Completed NCT02392559 Phase 3 Evolocumab;Placebo
26 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
27 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
28 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
29 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
30 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
31 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
32 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
33 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
34 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
35 NHLBI Type II Coronary Intervention Study Completed NCT00000594 Phase 3 cholestyramine
36 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)
37 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)
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, 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)
40 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
41 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
42 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
43 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
44 A 48 Week, Open Label, Non-Comparative, Multicentre, Phase IIIb Study to Evaluate the Efficacy and Safety of the Lipid-Regulating Agent Rosuvastatin in the Treatment of Subjects With Fredrickson Type IIa and Type IIb Dyslipidaemia, Including Heterozygous Familial Hypercholesterolaemia. Completed NCT00654602 Phase 3 Rosuvastatin
45 A 6-wk Open-Label, Randomised, Multicentre, Phase IIIb, Parallel-Group Study, Which Describes the Renal Effects of the Lipid-Regulating Agents Rosuvastatin and Simvastatin in the Treatment of Sub's With Fredrickson Type IIa & Type IIb Dyslipidaemia, Inc. Heterozygous Familial Hypercholesterolaemia Completed NCT00654446 Phase 3 Rosuvastatin;Simvastatin
46 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)
47 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
48 Comparative Pilot Study of the Effectiveness of Evolocumab Versus LDL Apheresis in Patients With Hypercholesterolemia Completed NCT03429998 Phase 3 evolocumab;evolocumab and LDL apheresis
49 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)
50 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

Search NIH Clinical Center for Familial Hypercholesterolemia

Inferred drug relations via UMLS 71 / NDF-RT 50 :


ezetimibe

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Familial Hypercholesterolemia cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Familial Hypercholesterolemia:
Hepatocyte transplantation for treatment of liver failure and inherited metabolic diseases
Hepatocyte transplantation for treatment of liver disorders
Embryonic/Adult Cultured Cells Related to Familial Hypercholesterolemia:
Hepatocytes PMIDs: 12777539 22167636 22789058 9580649 15239608

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:

40
Heart, Liver, Skin, Endothelial, Testes, Bone, Eye
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Familial Hypercholesterolemia:
# Tissue Anatomical CompartmentCell Relevance
1 Liver Liver Lobule Hepatocytes Affected by disease, potential therapeutic candidate

Publications for Familial Hypercholesterolemia

Articles related to Familial Hypercholesterolemia:

(show top 50) (show all 5133)
# Title Authors PMID Year
1
Functional analysis of sites within PCSK9 responsible for hypercholesterolemia. 54 61 24
18354137 2008
2
Genetic basis of familial dyslipidemia and hypertension: 15-year results from Utah. 54 61 24
8297539 1993
3
Child-Parent Familial Hypercholesterolemia Screening in Primary Care. 61 24
27783906 2016
4
Effects of Liver Transplantation on Lipids and Cardiovascular Disease in Children With Homozygous Familial Hypercholesterolemia. 61 24
27365335 2016
5
Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry. 61 24
27013694 2016
6
Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia. 61 24
27182539 2016
7
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia. 61 24
27050191 2016
8
Phenotype diversity among patients with homozygous familial hypercholesterolemia: A cohort study. 61 24
27017151 2016
9
Combined hyperlipidemia: familial but not (usually) monogenic. 61 24
26709473 2016
10
Attainment of LDL-Cholesterol Treatment Goals in Patients With Familial Hypercholesterolemia: 5-Year SAFEHEART Registry Follow-Up. 61 24
26988947 2016
11
Current familial hypercholesterolemia diagnostic criteria underdiagnose APOB mutations: Lessons from the Amish community. 61 24
27055977 2016
12
The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association. 61 24
26510694 2015
13
APOE p.Leu167del mutation in familial hypercholesterolemia. 61 24
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? 61 24
23141908 2013
15
Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. 61 24
22893714 2012
16
Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment. 61 24
22881376 2012
17
Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. 61 24
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. 61 24
22553281 2012
19
Guidelines for the management of familial hypercholesterolemia. 61 24
23095242 2012
20
Effect of lipid-lowering treatment on natural history of heterozygous familial hypercholesterolemia in past three decades. 61 24
21545982 2011
21
Familial hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. 61 24
21600530 2011
22
Cascade Screening for Familial Hypercholesterolemia (FH). 61 24
21633520 2011
23
Familial hypercholesterolemia: the lipids or the genes? 61 24
21513517 2011
24
The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations. 61 24
23776352 2010
25
Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. 61 24
18325082 2008
26
Simvastatin with or without ezetimibe in familial hypercholesterolemia. 61 24
18376000 2008
27
Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response. 61 24
16224054 2005
28
LDL-receptor mutations in Europe. 61 24
15523646 2004
29
Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. 61 24
15321837 2004
30
Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. 61 24
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. 61 24
14756670 2004
32
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. 54 24
12730697 2003
33
Risk of fatal stroke in patients with treated familial hypercholesterolemia: a prospective registry study. 61 24
12511745 2003
34
High lipoprotein(a) as a possible cause of clinical familial hypercholesterolaemia: a prospective cohort study. 24
27185354 2016
35
Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial. 24
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. 24
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. 24
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. 24
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). 24
23916935 2013
40
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. 24
23433573 2013
41
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 24
23375686 2013
42
Lomitapide for homozygous familial hypercholesterolaemia. 24
23122767 2013
43
Cardiovascular profile of xanthelasma palpebrarum. 24
23865074 2013
44
Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia. 24
22408029 2012
45
Discrepancies in reporting the CAG repeat lengths for Huntington's disease. 24
21811303 2012
46
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk. 24
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). 24
21712404 2011
48
Clinical aspects of PCSK9. 24
21596380 2011
49
Case series of type III hyperlipoproteinemia in children. 24
22691586 2011
50
Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy. 54 61
20045108 2010

Variations for Familial Hypercholesterolemia

ClinVar genetic disease variations for Familial Hypercholesterolemia:

6 (show top 50) (show all 1035) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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_001195798.2(LDLR):c.6del (p.Trp4fs)deletion Pathogenic 226303 rs875989888 19:11200227-11200227 19:11089551-11089551
3 LDLR NM_000527.4(LDLR):c.304C>T (p.Gln102Ter)SNV Pathogenic 226314 rs563390335 19:11213453-11213453 19:11102777-11102777
4 LDLR NM_001195799.2(LDLR):c.190+2324_190+2325deldeletion Pathogenic 226307 rs875989889 19:11213345-11213346 19:11102668-11102669
5 LDLR NM_001195800.2(LDLR):c.314-1826deldeletion Pathogenic 226330 rs875989905 19:11216239-11216239 19:11105563-11105563
6 LDLR NM_000527.4(LDLR):c.1048C>T (p.Arg350Ter)SNV Pathogenic 226342 rs769737896 19:11221435-11221435 19:11110759-11110759
7 LDLR NM_000527.4(LDLR):c.1118_1121dup (p.Tyr375fs)duplication Pathogenic 226347 rs875989916 19:11222247-11222250 19:11111568-11111569
8 LDLR NM_001195798.2(LDLR):c.2292del (p.Ile764fs)deletion Pathogenic 226390 rs875989941 19:11234001-11234001 19:11123325-11123325
9 LDLR NM_000527.4(LDLR):c.925_931delCCCATCA (p.Pro309Lysfs)deletion Pathogenic 3729 rs387906304 19:11218175-11218181 19:11107498-11107504
10 LDLR NM_000527.4(LDLR):c.1216C>A (p.Arg406=)SNV Pathogenic 3746 rs121908043 19:11223983-11223983 19:11113307-11113307
11 LDLR NM_000527.4(LDLR):c.2061dup (p.Asn688fs)duplication Pathogenic 68103 rs137853965 19:11231119-11231119 19:11120442-11120443
12 LDLR NM_000527.4(LDLR):c.1757C>G (p.Ser586Ter)SNV Pathogenic 441221 rs1555806455 19:11227586-11227586 19:11116910-11116910
13 PCSK9 NM_174936.3(PCSK9):c.286C>T (p.Arg96Cys)SNV Pathogenic 440714 rs185392267 1:55509594-55509594 1:55043921-55043921
14 LDLR NM_000527.4(LDLR):c.1731G>C (p.Trp577Cys)SNV Pathogenic 406163 rs875989928 19:11227560-11227560 19:11116884-11116884
15 LDLR NM_000527.4(LDLR):c.2180_2184dup (p.Leu729fs)duplication Pathogenic 403646 rs1555808044 19:11233887-11233888 19:11123211-11123212
16 LDLR NM_000527.4(LDLR):c.2431A>T (p.Lys811Ter)SNV Pathogenic 252336 rs879255211 19:11240230-11240230 19:11129554-11129554
17 LDLR NM_000527.4(LDLR):c.1860G>A (p.Trp620Ter)SNV Pathogenic 252089 rs875989933 19:11230782-11230782 19:11120106-11120106
18 LDLR NM_000527.4(LDLR):c.1599G>A (p.Trp533Ter)SNV Pathogenic 251927 rs879254952 19:11226782-11226782 19:11116106-11116106
19 LDLR NM_000527.4(LDLR):c.1120_1123dup (p.Tyr375fs)duplication Pathogenic 251676 rs879254799 19:11222249-11222252 19:11111571-11111572
20 LDLR NM_000527.4(LDLR):c.1200C>A (p.Tyr400Ter)SNV Pathogenic 251728 rs879254827 19:11223967-11223967 19:11113291-11113291
21 LDLR NM_001195798.2(LDLR):c.1008del (p.Gly335_Tyr336insTer)deletion Pathogenic 251590 rs879254751 19:11221395-11221395 19:11110719-11110719
22 LDLR NM_000527.4(LDLR):c.939C>A (p.Cys313Ter)SNV Pathogenic 251539 rs13306512 19:11218189-11218189 19:11107513-11107513
23 LDLR NM_001195798.2(LDLR):c.932_933del (p.Lys311fs)deletion Pathogenic 251530 rs879254723 19:11218182-11218183 19:11107505-11107506
24 LDLR NM_001195800.2(LDLR):c.314-1825_314-1809deldeletion Pathogenic 251355 rs879254619 19:11216243-11216259 19:11105566-11105582
25 LDLR NM_001195800.2(LDLR):c.314-1973deldeletion Pathogenic 251264 rs879254552 19:11216092-11216092 19:11105416-11105416
26 LDLR NM_001195799.2(LDLR):c.190+2431deldeletion Pathogenic 251126 rs764797225 19:11213452-11213452 19:11102776-11102776
27 LDLR NM_000527.4(LDLR):c.81C>A (p.Cys27Ter)SNV Pathogenic 251009 rs2228671 19:11210912-11210912 19:11100236-11100236
28 LDLR NM_000527.4(LDLR):c.12G>A (p.Trp4Ter)SNV Pathogenic 237860 rs756039188 19:11200236-11200236 19:11089560-11089560
29 LDLR NM_000527.4(LDLR):c.30G>A (p.Trp10Ter)SNV Pathogenic 627856 rs1568582652 19:11200254-11200254 19:11089578-11089578
30 LDLR NM_000527.4(LDLR):c.922G>T (p.Glu308Ter)SNV Pathogenic 631318 rs879254721 19:11218172-11218172 19:11107496-11107496
31 LDLR NM_000527.4(LDLR):c.505_511del (p.Asn169fs)deletion Pathogenic 629644 rs1568594903 19:11216086-11216092 19:11105410-11105416
32 LDLR NM_001195803.2(LDLR):c.1606+150_1606+151delshort repeat Pathogenic 630543 19:11231056-11231057 19:11120380-11120381
33 LDLR NC_000019.9:g.(?_11222180)_(11227689_?)deldeletion Pathogenic 640998 19:11222180-11227689 19:11111504-11117013
34 LDLR NC_000019.9:g.(?_11226750)_(11227694_?)deldeletion Pathogenic 658984 19:11226750-11227694 19:11116074-11117018
35 LDLR NC_000019.9:g.(?_11230758)_(11231284_?)deldeletion Pathogenic 654664 19:11230758-11231284 19:11120082-11120608
36 LDLR NC_000019.9:g.(?_11230758)_(11240356_?)dupduplication Pathogenic 648525 19:11230758-11240356 19:11120082-11129680
37 LDLR NM_000527.4(LDLR):c.1987+2T>ASNV Pathogenic 664087 19:11230911-11230911 19:11120235-11120235
38 LDLR NC_000019.9:g.(?_11210889)_(11218204_?)deldeletion Pathogenic 650699 19:11210889-11218204 19:11100213-11107528
39 LDLR NC_000019.9:g.(?_11215886)_(11218204_?)deldeletion Pathogenic 658446 19:11215886-11218204 19:11105210-11107528
40 LDLR NC_000019.9:g.(?_11227525)_(11231284_?)deldeletion Pathogenic 639860 19:11227525-11231284 19:11116849-11120608
41 LDLR NM_000527.5(LDLR):c.1647dup (p.Val550fs)duplication Pathogenic 660216 19:11226829-11226830 19:11116153-11116154
42 LDLR NM_000527.4(LDLR):c.1459_1472dup (p.Asp492fs)duplication Pathogenic 643071 19:11224309-11224310 19:11113633-11113634
43 LDLR NM_000527.5(LDLR):c.1382del (p.Gly461fs)deletion Pathogenic 647342 19:11224233-11224233 19:11113557-11113557
44 LDLR NM_000527.4(LDLR):c.1092C>A (p.Cys364Ter)SNV Pathogenic 646922 19:11222221-11222221 19:11111545-11111545
45 LDLR NM_000527.5(LDLR):c.1023del (p.Asp342fs)deletion Pathogenic 640361 19:11221407-11221407 19:11110731-11110731
46 LDLR NM_000527.4(LDLR):c.249delinsGG (p.Ile83fs)indel Pathogenic 660717 19:11213398-11213398 19:11102722-11102722
47 LDLR NM_000527.4(LDLR):c.41T>A (p.Leu14Ter)SNV Pathogenic 664091 19:11200265-11200265 19:11089589-11089589
48 LDLR NC_000019.9:g.(?_11238674)_(11238771_?)deldeletion Pathogenic 656812 19:11238674-11238771 19:11127998-11128095
49 LDLR NC_000019.9:g.(?_11226760)_(11231284_?)deldeletion Pathogenic 644845 19:11226760-11231284 19:11116084-11120608
50 LDLR NC_000019.9:g.(?_11210889)_(11213472_?)deldeletion Pathogenic 663429 19:11210889-11213472 19:11100213-11102796

Copy number variations for Familial Hypercholesterolemia from CNVD:

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

36
# 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
12.52 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 extracellular region GO:0005576 10.22 PCSK9 LPL LPA LIPC LCAT GHR
2 extracellular space GO:0005615 10.16 PCSK9 LPL LIPC LCAT GHR CETP
3 cell surface GO:0009986 10.01 PCSK9 LPL LDLR GHR APOA1 ABCA1
4 endoplasmic reticulum lumen GO:0005788 9.91 PCSK9 MTTP LIPC APOE APOB APOA2
5 early endosome GO:0005769 9.87 PCSK9 LDLRAP1 LDLR APOE APOB APOA2
6 clathrin-coated endocytic vesicle membrane GO:0030669 9.69 LDLR APOE APOB
7 endocytic vesicle lumen GO:0071682 9.61 APOE APOB APOA1
8 intermediate-density lipoprotein particle GO:0034363 9.58 APOE APOB APOA1
9 endolysosome membrane GO:0036020 9.56 PCSK9 LDLR
10 low-density lipoprotein particle GO:0034362 9.56 LDLR APOE APOB APOA1
11 spherical high-density lipoprotein particle GO:0034366 9.55 APOA2 APOA1
12 very-low-density lipoprotein particle GO:0034361 9.55 LPL APOE APOB APOA2 APOA1
13 discoidal high-density lipoprotein particle GO:0034365 9.52 APOE APOA1
14 PCSK9-LDLR complex GO:1990666 9.49 PCSK9 LDLR
15 chylomicron GO:0042627 9.35 LPL APOE APOB APOA2 APOA1
16 high-density lipoprotein particle GO:0034364 9.17 LIPC LCAT CETP APOE APOB APOA2

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

(show top 50) (show all 66)
# Name GO ID Score Top Affiliating Genes
1 lipid transport GO:0006869 10.11 MTTP LPA LDLR CETP APOE APOB
2 post-translational protein modification GO:0043687 10.1 PCSK9 APOE APOB APOA2 APOA1
3 cellular protein metabolic process GO:0044267 10.06 PCSK9 APOE APOB APOA2 APOA1
4 response to drug GO:0042493 10.04 LPL APOA2 APOA1 ABCA1
5 receptor-mediated endocytosis GO:0006898 10.04 LDLRAP1 LDLR APOE APOB APOA1
6 triglyceride metabolic process GO:0006641 10.02 PCSK9 MTTP LPL CETP APOE APOA2
7 retinoid metabolic process GO:0001523 10.01 LPL APOE APOB APOA2 APOA1
8 phospholipid transport GO:0015914 9.99 MTTP LDLR CETP APOA1 ABCA1
9 regulation of lipid metabolic process GO:0019216 9.97 HMGCR APOA2 APOA1 ABCA1
10 triglyceride homeostasis GO:0070328 9.97 LPL LIPC CETP APOE APOA1
11 high-density lipoprotein particle remodeling GO:0034375 9.97 LIPC LCAT CETP APOE APOA2 APOA1
12 lipoprotein metabolic process GO:0042157 9.97 PCSK9 MTTP LDLR APOE APOB APOA2
13 cholesterol transport GO:0030301 9.97 LIPC LDLRAP1 LDLR LCAT CETP APOB
14 phospholipid metabolic process GO:0006644 9.96 PCSK9 LPL LCAT APOA1
15 cholesterol efflux GO:0033344 9.96 APOE APOB APOA2 APOA1 ABCA1
16 steroid metabolic process GO:0008202 9.96 PCSK9 LDLRAP1 LDLR LCAT HMGCR CETP
17 low-density lipoprotein particle remodeling GO:0034374 9.95 LPA LIPC CETP APOE APOB APOA2
18 reverse cholesterol transport GO:0043691 9.95 LIPC LCAT CETP APOE APOA2 APOA1
19 chylomicron assembly GO:0034378 9.93 MTTP APOE APOB APOA2 APOA1
20 cholesterol metabolic process GO:0008203 9.93 PCSK9 LIPC LDLRAP1 LDLR LCAT HMGCR
21 low-density lipoprotein particle clearance GO:0034383 9.92 PCSK9 LDLRAP1 LDLR APOB
22 chylomicron remodeling GO:0034371 9.92 LPL APOE APOB APOA2 APOA1
23 high-density lipoprotein particle assembly GO:0034380 9.91 APOE APOA2 APOA1 ABCA1
24 lipoprotein biosynthetic process GO:0042158 9.91 LCAT APOE APOB APOA1 ABCA1
25 very-low-density lipoprotein particle remodeling GO:0034372 9.91 LPL LIPC LCAT CETP APOE APOA1
26 response to nutrient GO:0007584 9.9 HMGCR APOA1 ABCA1
27 phospholipid efflux GO:0033700 9.9 APOE APOA2 APOA1 ABCA1
28 high-density lipoprotein particle clearance GO:0034384 9.88 LDLR APOE APOA2 APOA1
29 chylomicron remnant clearance GO:0034382 9.88 LIPC LDLR APOE APOB
30 phosphatidylcholine biosynthetic process GO:0006656 9.85 LCAT APOA2 APOA1
31 artery morphogenesis GO:0048844 9.85 LDLR APOE APOB
32 triglyceride catabolic process GO:0019433 9.84 LPL LIPC APOB
33 positive regulation of cholesterol efflux GO:0010875 9.83 APOE APOA1 ABCA1
34 regulation of cholesterol metabolic process GO:0090181 9.83 LDLR EPHX2 APOE
35 phosphatidylcholine metabolic process GO:0046470 9.82 LCAT CETP APOA1
36 phospholipid homeostasis GO:0055091 9.81 CETP APOA1 ABCA1
37 positive regulation of cholesterol esterification GO:0010873 9.81 APOE APOA2 APOA1
38 regulation of Cdc42 protein signal transduction GO:0032489 9.8 APOE APOA1 ABCA1
39 lipoprotein catabolic process GO:0042159 9.8 LDLR APOE APOB
40 cholesterol homeostasis GO:0042632 9.8 PCSK9 MTTP LPL LIPC LDLRAP1 LDLR
41 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.74 LPL APOB
42 lipoprotein transport GO:0042953 9.73 MTTP APOB
43 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.73 CETP ABCA1
44 positive regulation of lipid storage GO:0010884 9.73 LPL APOB
45 protein lipidation GO:0006497 9.73 MTTP ABCA1
46 regulation of protein metabolic process GO:0051246 9.73 LDLR APOE
47 amyloid precursor protein metabolic process GO:0042982 9.73 LDLRAP1 APOE
48 very-low-density lipoprotein particle assembly GO:0034379 9.72 MTTP APOB
49 regulation of lipoprotein lipase activity GO:0051004 9.72 LPL LIPC
50 positive regulation of cholesterol storage GO:0010886 9.72 LPL APOB

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.56 STAP1 PCSK9 MTTP LPL LPA LIPC
2 protein homodimerization activity GO:0042803 10.09 LPL HMGCR GHR EPHX2 APOE APOA2
3 signaling receptor binding GO:0005102 10 LPL APOE APOA2 APOA1 ABCA1
4 lipid binding GO:0008289 9.97 MTTP CETP APOE APOA2 APOA1
5 heparin binding GO:0008201 9.91 LPL LPA LIPC APOE APOB
6 amyloid-beta binding GO:0001540 9.85 LDLRAP1 LDLR APOE APOA1
7 phospholipid binding GO:0005543 9.85 STAP1 APOE APOB APOA2 APOA1
8 cholesterol binding GO:0015485 9.8 CETP APOA2 APOA1 ABCA1
9 high-density lipoprotein particle binding GO:0008035 9.71 APOA2 APOA1 ABCA1
10 phosphatidylcholine binding GO:0031210 9.71 CETP APOA2 APOA1 ABCA1
11 low-density lipoprotein particle binding GO:0030169 9.7 PCSK9 LIPC LDLR
12 low-density lipoprotein particle receptor binding GO:0050750 9.67 PCSK9 LDLRAP1 APOE APOB
13 lipoprotein particle binding GO:0071813 9.65 LPL APOE APOA1
14 phospholipase activity GO:0004620 9.64 LPL LIPC
15 lipase activity GO:0016298 9.63 LPL LIPC
16 intermembrane cholesterol transfer activity GO:0120020 9.63 CETP APOE APOB APOA2 APOA1 ABCA1
17 heparan sulfate proteoglycan binding GO:0043395 9.62 LPL APOE
18 signaling adaptor activity GO:0035591 9.62 STAP1 LDLRAP1
19 lipase inhibitor activity GO:0055102 9.61 APOA2 APOA1
20 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.61 APOE APOA2 APOA1
21 apolipoprotein A-I binding GO:0034186 9.59 LCAT ABCA1
22 very-low-density lipoprotein particle receptor binding GO:0070326 9.58 PCSK9 APOE
23 high-density lipoprotein particle receptor binding GO:0070653 9.57 APOA2 APOA1
24 triglyceride binding GO:0017129 9.56 LPL CETP
25 phospholipid transporter activity GO:0005548 9.56 MTTP CETP APOA1 ABCA1
26 apolipoprotein receptor binding GO:0034190 9.5 PCSK9 APOA2 APOA1
27 apolipoprotein binding GO:0034185 9.43 PCSK9 MTTP LPL LPA LIPC ABCA1
28 lipid transporter activity GO:0005319 9.17 MTTP CETP APOE APOB APOA2 APOA1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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