MCID: HYP607
MIFTS: 75

Hypercholesterolemia, Familial

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Hypercholesterolemia, Familial

MalaCards integrated aliases for Hypercholesterolemia, Familial:

Name: Hypercholesterolemia, Familial 54 13 38 69
Familial Hypercholesterolemia 38 12 23 50 24 71 29 14
Hypercholesterolemia 54 25 52 69
Hyperlipoproteinemia Type Iia 23 50 69
Hypercholesterolemia, Autosomal Dominant 23 52
Hyperbetalipoproteinemia 12 29
Coronary Artery Disease in Familial Hypercholesterolemia, Protection Against 54
Hypercholesterolemia, Familial, Due to Ldlr Defect, Modifier of 54
Hypercholesterolemia, Familial, Modifier of 54
Familial Hypercholesterolemic Xanthomatosis 50
Fredrickson Type Iia Hyperlipoproteinemia 12
Familial Hyperbetalipoproteinaemia 12
Hyper-Low Density-Lipoproteinemia 50
Fredrickson Type Iia Lipidaemia 12
Familial Hypercholesterolemias 29
Familial Hypercholesterolæmia 23
Hyperlipoproteinemia, Type Ii 50
Hypercholesterolemia Familial 52
Hyperlipoproteinemia Type Iib 69
Hyperlipoproteinemia Type Ii 42
Familial Hypercholesteremia 12
Ldl Cholesterol Level Qtl2 54
Type Ii Hyperlipidemia 12
Elevated Cholesterol 25
Fh 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
hypercholesterolemia, familial:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Apob. penetrance for fh can be incomplete in persons with a heterozygous apob pathogenic variant [fahed & nemer 2011]...

Classifications:



Summaries for Hypercholesterolemia, Familial

NIH Rare Diseases : 50 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. last updated: 6/18/2015

MalaCards based summary : Hypercholesterolemia, Familial, also known as familial hypercholesterolemia, is related to hypercholesterolemia, familial, autosomal recessive and hypercholesterolemia, familial, 3, and has symptoms including hypertriglyceridemia, hypercholesterolemia and corneal arcus. An important gene associated with Hypercholesterolemia, Familial is LDLR (Low Density Lipoprotein Receptor), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Heparin and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include Liver, skin and heart, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

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

Genetics Home Reference : 25 Hypercholesterolemia is a 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. Too much cholesterol, however, increases a person's risk of developing heart disease.

OMIM : 54
Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (LDL), which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis). The disorder occurs in 2 clinical forms: homozygous and heterozygous (summary by Hobbs et al., 1992). (143890)

UniProtKB/Swiss-Prot : 71 Familial hypercholesterolemia: Common autosomal semi-dominant disease that affects about 1 in 500 individuals. The receptor defect impairs the catabolism of LDL, and the resultant elevation in plasma LDL-cholesterol promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis).

Wikipedia : 72 Familial hypercholesterolemia (abbreviated FH, also spelled familial hypercholesterolaemia) is a genetic... more...

GeneReviews: NBK174884

Related Diseases for Hypercholesterolemia, Familial

Diseases in the Hypercholesterolemia, Familial family:

Hypercholesterolemia, Familial, Autosomal Recessive Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Due to Ligand-Defective Apo B Ldlrap1-Related Familial Hypercholesterolemia, Autosomal Recessive
Apob-Related Familial Hypercholesterolemia, Autosomal Dominant Ldlr-Related Familial Hypercholesterolemia, Autosomal Dominant
Pcsk9-Related Familial Hypercholesterolemia, Autosomal Dominant

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

(show top 50) (show all 121)
id Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial, autosomal recessive 34.2 LDLR LDLRAP1 PCSK9
2 hypercholesterolemia, familial, 3 34.2 LDLR PCSK9
3 hypercholesterolemia, due to ligand-defective apo b 32.6 APOB APOE LDLR
4 hyperlipidemia, familial combined 31.7 APOA1 APOA2 APOB APOE CETP COG2
5 homozygous familial hypercholesterolemia 12.0
6 pcsk9-related familial hypercholesterolemia, autosomal dominant 11.9
7 ldlrap1-related familial hypercholesterolemia, autosomal recessive 11.8
8 apob-related familial hypercholesterolemia, autosomal dominant 11.8
9 ldlr-related familial hypercholesterolemia, autosomal dominant 11.8
10 leiomyomatosis and renal cell cancer 11.8
11 fumarase deficiency 11.8
12 hyperaldosteronism, familial, type iii 11.7
13 floating-harbor syndrome 11.6
14 renal cell carcinoma, papillary 11.4
15 leiomyomatosis 11.4
16 renal cell carcinoma 11.3
17 leiomyoma 11.3
18 fumarate hydratase deficiency 11.2
19 paraganglioma 11.2
20 leiomyosarcoma 11.2
21 uterine fibroid 11.2
22 cerebrotendinous xanthomatosis 11.1
23 pheochromocytoma 11.1
24 aldosteronism, glucocorticoid-remediable 11.0
25 encephalopathy 11.0
26 kidney cancer 11.0
27 hyperaldosteronism, familial, type iv 10.9
28 xk aprosencephaly 10.8 APOB APOE
29 cutaneous leiomyosarcoma 10.8
30 oxyphilic adenoma 10.8
31 mitochondrial encephalomyopathy 10.8
32 asperger syndrome 10.8
33 multiple cutaneous and uterine leiomyomas 10.8
34 hyperlipoproteinemia, type iii 10.8
35 aquagenic syringeal acrokeratoderm 10.8 APOA1 LCAT
36 short stature, brachydactyly, intellectual developmental disability, and seizures 10.8 APOA1 APOA2 LCAT
37 hyperaldosteronism, familial, type ii 10.8
38 familial hyperaldosteronism 10.8
39 hemochromatosis, type 5 10.8 ABCA1 APOE HMGCR LDLR
40 candidal paronychia 10.8 APOB COG2 LDLRAP1
41 joubert syndrome 21 10.8 ABCA1 APOA1 APOB
42 autosomal dominant nonsyndromic deafness 69 10.8
43 dartoic leiomyoma 10.8
44 gastric leiomyoma 10.8
45 acute contagious conjunctivitis 10.8
46 familial renal papillary carcinoma 10.8
47 familial renal oncocytoma 10.8
48 birt-hogg-dube syndrome 10.8
49 carrion's disease 10.8
50 skin sarcoma 10.8

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



Diseases related to Hypercholesterolemia, Familial

Symptoms & Phenotypes for Hypercholesterolemia, Familial

Symptoms via clinical synopsis from OMIM:

54

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

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

Head And Neck- Eyes:
corneal arcus
xanthelasma

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


Clinical features from OMIM:

143890

Human phenotypes related to Hypercholesterolemia, Familial:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 hypertriglyceridemia 32 HP:0002155
2 hypercholesterolemia 32 HP:0003124
3 corneal arcus 32 HP:0001084
4 xanthelasma 32 HP:0001114
5 abnormality of the skin 32 HP:0000951
6 atheromatosis 32 HP:0002635
7 hyperbetalipoproteinemia 32 HP:0003141

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.77 LPL PCSK9 ABCA1 APOA1 APOA4 APOB
2 Increased LDL uptake GR00340-A-1 8.92 APOA1 APOE LDLR LPL

MGI Mouse Phenotypes related to Hypercholesterolemia, Familial:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.86 ABCA1 APOA1 APOA2 APOA4 APOB APOE
2 cardiovascular system MP:0005385 9.81 ABCA1 APOA1 APOB APOE EPHX2 GHR
3 liver/biliary system MP:0005370 9.36 ABCA1 APOA1 APOB APOE GHR HMGCR

Drugs & Therapeutics for Hypercholesterolemia, Familial

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

(show top 50) (show all 97)
id 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,Phase 1 22916-47-8 4189
3
Probucol Approved Phase 4 23288-49-5 4912
4
Fenofibrate Approved Phase 4,Phase 2 49562-28-9 3339
5
Amlodipine Approved Phase 4 88150-42-9 2162
6
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
7 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
9 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
12 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1
13 Antibodies Phase 4,Phase 3,Phase 2
14 Antibodies, Monoclonal Phase 4,Phase 3,Phase 2
15 Immunoglobulins Phase 4,Phase 3,Phase 2
16 Colesevelam Hydrochloride Phase 4,Phase 1
17 calcium heparin Phase 4
18 Antioxidants Phase 4
19 Protective Agents Phase 4
20 Amlodipine, atorvastatin drug combination Phase 4
21 Angiotensin-Converting Enzyme Inhibitors Phase 4
22 Antihypertensive Agents Phase 4
23 calcium channel blockers Phase 4
24 diuretics Phase 4
25 Diuretics, Potassium Sparing Phase 4
26 Hormone Antagonists Phase 4
27 Hormones Phase 4
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
29 Mineralocorticoid Receptor Antagonists Phase 4
30 Mineralocorticoids Phase 4
31 Natriuretic Agents Phase 4
32 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1
33
Ezetimibe Approved Phase 3,Phase 2 163222-33-1 150311
34
Fluvastatin Approved Phase 3,Phase 2 93957-54-1 1548972
35
Simvastatin Approved Phase 3,Phase 2 79902-63-9 54454
36
Mipomersen Approved Phase 3,Phase 2 1000120-98-8
37
Esomeprazole Approved, Investigational Phase 3 161796-78-7, 119141-88-7 4594 9579578
38
Pitavastatin Approved Phase 3,Phase 2 147511-69-1, 147526-32-7 6366718 5282452
39
Pravastatin Approved Phase 3,Phase 2 81093-37-0 54687
40
Lovastatin Approved, Investigational Phase 2, Phase 3 75330-75-5 53232
41
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 1,Phase 2 59-30-3 6037
42
Niacin Approved, Investigational, Nutraceutical Phase 3,Phase 2,Phase 1 59-67-6 938
43
Nicotinamide Approved, Nutraceutical Phase 3,Phase 2,Phase 1 98-92-0 936
44 Atorvastatin Calcium Phase 3,Phase 2,Phase 1 134523-03-8
45 Micronutrients Phase 3,Phase 2,Phase 1
46 Trace Elements Phase 3,Phase 2,Phase 1
47 Vitamin B Complex Phase 3,Phase 1,Phase 2
48 Vitamins Phase 3,Phase 1,Phase 2
49 Bone Density Conservation Agents Phase 3
50 Rosuvastatin Calcium Phase 3,Phase 2 147098-20-2

Interventional clinical trials:

(show top 50) (show all 163)

id Name Status NCT ID Phase Drugs
1 A Study of the Safety and Efficacy of Patients With Familial Hypercholesterolaemia Taking Colesevelam as add-on Therapy to Their Existing Medication Completed NCT00655265 Phase 4 Colesevelam hydrochloride film-coated tablets;Placebo
2 Low-Density Lipoprotein (LDL) Apheresis Using H.E.L.P. Therapy Completed NCT00916643 Phase 4
3 Efficacy and Safety of Colesevelam in Pediatric Patients With Genetic High Cholesterol Completed NCT00145574 Phase 4 colesevelam HCl;placebo
4 Study on the Efficacy and Safety of Oral Probucol Tablets in Patients With Hyperlipidemia - Post-Marketing Surveillance Completed NCT02730390 Phase 4
5 Study to Compare Welchol and TriCor to TriCor Alone in Patients With High Cholesterol Completed NCT00754039 Phase 4 colesevelam HCl tablets and fenofibrate tablets;fenofibrate tablets and Welchol placebo tablets;fenofibrate tablets and Welchol placebo tablets
6 STITCH2 (Simplified Therapeutic Intervention to Control Hypertension and Hypercholesterolemia) Completed NCT00637078 Phase 4
7 Evaluating Effect of the Study Drug Praluent (Alirocumab) on Neurocognitive Function When Compared to Placebo Recruiting NCT02957682 Phase 4 Praluent (Alirocumab);Placebo
8 Efficacy and Safety of Lomitapide in Japanese Patients With HoFH on Concurrent Lipid-Lowering Therapy Unknown status NCT02173158 Phase 3 lomitapide
9 Effect of Omega-3 Fatty Acid on Endothelial Function Unknown status NCT01813006 Phase 3 Omega-3;placebo
10 An Study to Evaluate Rosuvastatin in Children and Adolescents With Familial Hypercholesterolaemia Completed NCT01078675 Phase 3 rosuvastatin calcium;rosuvastatin calcium;rosuvastatin calcium
11 A 52 Week Study To Assess The Use Of Bococizumab (PF-04950615; RN316) In Subjects With Heterozygous Familial Hypercholesterolemia Completed NCT01968980 Phase 3 Bococizumab (PF-04950615;RN316)
12 Efficacy and Safety of Fluvastatin in Children With Heterozygous Familial Hypercholesterolemia Completed NCT00171236 Phase 3 Fluvastatin
13 Long Term, Follow-on Study of Lomitapide in Patients With Homozygous Familial Hypercholesterolemia Completed NCT00943306 Phase 3 lomitapide
14 Study of Alirocumab (REGN727/SAR236553) in Patients With heFH (Heterozygous Familial Hypercholesterolemia) Who Are Not Adequately Controlled With Their LMT (Lipid-Modifying Therapy) Completed NCT01709500 Phase 3 LMT (atorvastatin, simvastatin, or rosuvastatin);alirocumab;Placebo
15 A Study to Evaluate the Safety of Rosuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia Completed NCT02434497 Phase 3 Rosuvastatin 20mg
16 A Study to Evaluate the Efficacy and Safety of Rosuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia Completed NCT02226198 Phase 3 Rosuvastatin 20mg;Placebo
17 A Study of the Safety and Efficacy of Anacetrapib (MK-0859) When Added to Ongoing Statin Therapy in Japanese Participants With Heterozygous Familial Hypercholesterolemia (MK-0859-050) Completed NCT01824238 Phase 3 Anacetrapib;Placebo for anacetrapib
18 Trial Evaluating PCSK9 Antibody in Subjects With LDL Receptor Abnormalities Completed NCT01588496 Phase 2, Phase 3 Placebo
19 Atorvastatin Three Year Pediatric Study Completed NCT00827606 Phase 3 atorvastatin
20 Efficacy and Safety Study of ISIS 301012 (Mipomersen) as Add-on in Familial Hypercholesterolemic Patients With Coronary Artery Disease Completed NCT00706849 Phase 3 mipomersen sodium;placebo
21 A Safety and Efficacy Study of AEGR-733 to Treat Homozygous Familial Hypercholesterolemia (FH) Completed NCT00730236 Phase 3 AEGR-733
22 Study of Alirocumab (REGN727/SAR236553) in Patients With Heterozygous Familial Hypercholesterolemia (HeFH) Undergoing Low-density Lipoprotein (LDL) Apheresis Therapy Completed NCT02326220 Phase 3 Alirocumab;Placebo
23 Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia Completed NCT00607373 Phase 3 mipomersen;Placebo
24 PLUTO: Pediatric Lipid-redUction Trial of rOsuvastatin Completed NCT00355615 Phase 3 Rosuvastatin;Placebo
25 An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia Completed NCT00694109 Phase 3 Mipomersen Sodium
26 Study To Evaluate The Safety And Efficacy Of Torcetrapib/Atorvastatin In Subjects With Familial Hypercholerolemia Completed NCT00134485 Phase 3 torcetrapib/atorvastatin;atorvastatin
27 Carotid B-Mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrpib/Atorvastatin to Atorvastatin Alone. Completed NCT00136981 Phase 3 torcetrapib/atorvastatin;atorvastatin
28 Study To Evaluate The Effect Of Torcetrapib/Atorvastatin In Patients With Genetic High Cholesterol Disorder Completed NCT00134511 Phase 3 Torcetrapib/atorvastatin
29 Reduction of LDL-C With PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder Study-2 Completed NCT01763918 Phase 3 Placebo
30 A Study of 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
31 Efficacy and Safety Evaluation of Alirocumab in Patients With Heterozygous Familial Hypercholesterolemia or High Cardiovascular Risk Patients With Hypercholesterolemia on Lipid Modifying Therapy (ODYSSEY JAPAN) Completed NCT02107898 Phase 3 Placebo (for alirocumab);Alirocumab;Lipid-Modifying Therapy (LMT)
32 Efficacy and Safety of Alirocumab (SAR236553/REGN727) Versus Placebo on Top of Lipid-Modifying Therapy in Patients With Heterozygous Familial Hypercholesterolemia (ODYSSEY HIGH FH) Completed NCT01617655 Phase 3 Alirocumab;Placebo (for alirocumab);Lipid Modifying Therapy (LMT)
33 Efficacy and Safety of Alirocumab (SAR236553/REGN727) Versus Placebo on Top of Lipid-Modifying Therapy 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)
34 Effects of Ezetimibe With Simvastatin in the Therapy of Adolescents With HeFH (Study P02579) Completed NCT00129402 Phase 3 ezetimibe with simvastatin;simvastatin
35 Effect of Ezetimibe Plus Simvastatin Versus Simvastatin Alone on Atherosclerosis in the Carotid Artery (ENHANCE)(P02578) Completed NCT00552097 Phase 3 ezetimibe (plus simvastatin);placebo (plus simvastatin)
36 48-wk Open Label Phase IIIb to Evaluate Efficacy and Safety Completed NCT00654602 Phase 3 Rosuvastatin
37 NHLBI Type II Coronary Intervention Study Completed NCT00000594 Phase 3 cholestyramine
38 IIIb 6 Week Open Label Multicentre Rosuvastatin & Simvastatin Completed NCT00654446 Phase 3 Rosuvastatin;Simvastatin
39 A Clinical Trial to Assess the Long Term Safety and Tolerability of MK-0653C in Japanese Participants With Hypercholesterolemia (MK-0653C-384) Completed NCT02460159 Phase 3 EZ 10 mg/Atorva 20 mg FDC;EZ 10 mg/Atorva 10 mg FDC
40 Pediatric Study to Evaluate the Efficacy and Safety of Ezetimibe Monotherapy in Children With Primary Hypercholesterolemia (P05522) Completed NCT00867165 Phase 3 ezetimibe;Placebo
41 Study of the Efficacy and Safety of Alirocumab (REGN727/SAR236553) in Combination With Other Lipid-modifying Treatment (LMT) (ODYSSEY OPTIONS I) Completed NCT01730040 Phase 3 Alirocumab;Atorvastatin;Ezetimibe;Rosuvastatin;Placebo
42 MARS - Monitored Atherosclerosis Regression Study Completed NCT00116870 Phase 2, Phase 3 lovastatin
43 An Open-Label Study to Compare the Lipid Effects of Niacin ER and Simvastatin (NS) to Atorvastatin in Subjects With Hyperlipidemia or Mixed Dyslipidemia (SUPREME) Completed NCT00465088 Phase 3 Niacin ER/Simvastatin Tablets;atorvastatin
44 Flaxseed Compared With Placebo in Patients With Hypercholesterolemia Completed NCT01007344 Phase 3
45 Evolocumab Compared to LDL-C Apheresis in Patients Receiving LDL-C Apheresis Prior to Study Enrollment Completed NCT02585895 Phase 3
46 Open Label Study to Evaluate Safety, Tolerability and Efficacy of Evolocumab (AMG 145) in Pediatric Subjects (10 to 17 Years of Age) With Heterozygous Familial Hypercholesterolemia (HeFH) or Homozygous Familial Hypercholesterolemia (HoFH). Recruiting NCT02624869 Phase 3
47 Trial Assessing Efficacy, Safety and Tolerability of PCSK9 Inhibition in Paediatric Subjects With Genetic LDL Disorders Recruiting NCT02392559 Phase 3 Evolocumab;Placebo
48 Vascular Effects of Alirocumab in Acute MI-Patients Recruiting NCT03067844 Phase 3 Alirocumab 150 mg/mL;Placebo
49 Evaluation of Long-Term Efficacy of Bempedoic Acid (ETC-1002) in Patients With Hyperlipidemia at High Cardiovascular Risk Recruiting NCT02991118 Phase 3 bempedoic acid;placebo
50 Evaluation of the Efficacy and Safety of Bempedoic Acid (ETC-1002) in Patients With Hyperlipidemia and Statin Intolerant Recruiting NCT02988115 Phase 3 bempedoic acid

Search NIH Clinical Center for Hypercholesterolemia, Familial

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cell-based therapeutics:


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

Cochrane evidence based reviews: hyperlipoproteinemia type ii

Genetic Tests for Hypercholesterolemia, Familial

Genetic tests related to Hypercholesterolemia, Familial:

id Genetic test Affiliating Genes
1 Familial Hypercholesterolemia 29 24
2 Familial Hypercholesterolemias 29
3 Hyperbetalipoproteinemia 29

Anatomical Context for Hypercholesterolemia, Familial

MalaCards organs/tissues related to Hypercholesterolemia, Familial:

39
Skin, Heart, Liver, Bone, Endothelial, Bone Marrow
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Publications for Hypercholesterolemia, Familial

Articles related to Hypercholesterolemia, Familial:

id Title Authors Year
1
Changes in ultracentrifugally separated plasma lipoprotein subfractions in patients with polygenic hypercholesterolemia, familial combined hyperlipoproteinemia, and familial hypercholesterolemia after treatment with atorvastatin. ( 25911077 )
2015
2
[Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family]. ( 18247305 )
2008
3
Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia. ( 10073989 )
1999
4
Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method. ( 1301940 )
1992

Variations for Hypercholesterolemia, Familial

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

71 (show top 50) (show all 104)
id Symbol AA change Variation ID SNP ID
1 APOE p.Arg163Cys VAR_000659 rs769455
2 LDLR p.Cys27Trp VAR_005304 rs2228671
3 LDLR p.Arg78Cys VAR_005307 rs370860696
4 LDLR p.Trp87Gly VAR_005308 rs121908025
5 LDLR p.Cys89Tyr VAR_005309 rs875989894
6 LDLR p.Asp90Gly VAR_005310 rs771019366
7 LDLR p.Asp90Asn VAR_005311 rs749038326
8 LDLR p.Asp90Tyr VAR_005312 rs749038326
9 LDLR p.Gln92Glu VAR_005313 rs774467219
10 LDLR p.Cys95Gly VAR_005314 rs879254456
11 LDLR p.Glu101Lys VAR_005315 rs144172724
12 LDLR p.Cys116Arg VAR_005317 rs879254482
13 LDLR p.Glu140Lys VAR_005318 rs748944640
14 LDLR p.Asp168His VAR_005321 rs200727689
15 LDLR p.Asp168Asn VAR_005322 rs200727689
16 LDLR p.Asp168Tyr VAR_005323 rs200727689
17 LDLR p.Cys173Trp VAR_005325 rs769318035
18 LDLR p.Asp175Asn VAR_005326 rs121908033
19 LDLR p.Ser177Leu VAR_005327 rs121908026
20 LDLR p.Cys197Arg VAR_005330 rs730882085
21 LDLR p.Asp221Gly VAR_005332 rs373822756
22 LDLR p.Asp221Tyr VAR_005333 rs875989906
23 LDLR p.Asp224Val VAR_005336 rs879254630
24 LDLR p.Asp227Glu VAR_005338 rs121908028
25 LDLR p.Glu228Lys VAR_005341 rs121908029
26 LDLR p.Cys231Gly VAR_005342 rs746091400
27 LDLR p.Cys248Tyr VAR_005345 rs879254663
28 LDLR p.Cys276Tyr VAR_005349 rs730882089
29 LDLR p.Asp301Ala VAR_005352 rs879254714
30 LDLR p.Cys302Tyr VAR_005353 rs879254715
31 LDLR p.Cys302Trp VAR_005354 rs879254716
32 LDLR p.Cys313Tyr VAR_005358 rs875989911
33 LDLR p.Cys318Phe VAR_005360 rs879254739
34 LDLR p.His327Tyr VAR_005361 rs747507019
35 LDLR p.Cys329Tyr VAR_005362 rs761954844
36 LDLR p.Cys338Ser VAR_005364 rs879254753
37 LDLR p.Arg350Pro VAR_005368 rs875989914
38 LDLR p.Cys368Arg VAR_005374
39 LDLR p.Ala399Asp VAR_005376 rs875989918
40 LDLR p.Leu414Arg VAR_005379 rs748554592
41 LDLR p.Arg416Gln VAR_005380 rs773658037
42 LDLR p.Arg416Trp VAR_005381 rs570942190
43 LDLR p.Ile423Thr VAR_005382 rs879254849
44 LDLR p.Val429Met VAR_005383 rs28942078
45 LDLR p.Asp433His VAR_005385 rs121908036
46 LDLR p.Asp482His VAR_005391
47 LDLR p.Trp483Arg VAR_005392 rs879254905
48 LDLR p.Val523Met VAR_005395 rs28942080
49 LDLR p.Gly549Asp VAR_005398 rs28941776
50 LDLR p.Asn564His VAR_005399 rs397509365

ClinVar genetic disease variations for Hypercholesterolemia, Familial:

6 (show top 50) (show all 1581)
id Gene Variation Type Significance SNP ID Assembly Location
1 PCSK9 NM_174936.3(PCSK9): c.381T> A (p.Ser127Arg) single nucleotide variant Pathogenic/Likely pathogenic rs28942111 GRCh37 Chromosome 1, 55509689: 55509689
2 PCSK9 NM_174936.3(PCSK9): c.1120G> T (p.Asp374Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs137852912 GRCh37 Chromosome 1, 55523127: 55523127
3 LDLR NM_000527.4(LDLR): c.97C> T (p.Gln33Ter) single nucleotide variant Pathogenic rs121908024 GRCh37 Chromosome 19, 11210928: 11210928
4 LDLR NM_000527.4(LDLR): c.259T> G (p.Trp87Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121908025 GRCh37 Chromosome 19, 11213408: 11213408
5 LDLR NM_000527.4(LDLR): c.530C> T (p.Ser177Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121908026 GRCh37 Chromosome 19, 11216112: 11216112
6 LDLR NM_000527.4(LDLR): c.1694G> T (p.Gly565Val) single nucleotide variant Pathogenic/Likely pathogenic rs28942082 GRCh37 Chromosome 19, 11226877: 11226877
7 LDLR NM_000527.4(LDLR): c.2000G> A (p.Cys667Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs28942083 GRCh37 Chromosome 19, 11231058: 11231058
8 LDLR NM_000527.4(LDLR): c.681C> G (p.Asp227Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121908028 GRCh37 Chromosome 19, 11216263: 11216263
9 LDLR NM_000527.4(LDLR): c.682G> A (p.Glu228Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121908029 GRCh37 Chromosome 19, 11216264: 11216264
10 LDLR NM_000527.4(LDLR): c.910G> A (p.Asp304Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121908030 GRCh37 Chromosome 19, 11218160: 11218160
11 LDLR FH Nashville insertion Pathogenic
12 LDLR NM_000527.4(LDLR): c.1285G> A (p.Val429Met) single nucleotide variant Pathogenic/Likely pathogenic rs28942078 GRCh37 Chromosome 19, 11224052: 11224052
13 LDLR NM_000527.4(LDLR): c.1291G> A (p.Ala431Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28942079 GRCh37 Chromosome 19, 11224058: 11224058
14 LDLR NM_000527.4(LDLR): c.1567G> A (p.Val523Met) single nucleotide variant Pathogenic/Likely pathogenic rs28942080 GRCh37 Chromosome 19, 11224419: 11224419
15 LDLR NM_000527.4(LDLR): c.1637G> A (p.Gly546Asp) single nucleotide variant Pathogenic/Likely pathogenic rs28942081 GRCh37 Chromosome 19, 11226820: 11226820
16 LDLR NM_000527.4(LDLR): c.1646G> A (p.Gly549Asp) single nucleotide variant Pathogenic/Likely pathogenic rs28941776 GRCh37 Chromosome 19, 11226829: 11226829
17 LDLR NM_000527.4(LDLR): c.2043C> A (p.Cys681Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908031 GRCh37 Chromosome 19, 11231101: 11231101
18 LDLR FH Paris 1 deletion Pathogenic GRCh37 Chromosome 19, 11217145: 11217917
19 LDLR FH Cape Town 2 deletion Pathogenic/Likely pathogenic GRCh38 Chromosome 19, 11107515: 11113277
20 LDLR NM_000527.4(LDLR): c.2054C> T (p.Pro685Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28942084 GRCh37 Chromosome 19, 11231112: 11231112
21 LDLR NM_000527.4(LDLR): c.2439G> A (p.Trp813Ter) single nucleotide variant Pathogenic rs121908032 GRCh37 Chromosome 19, 11240238: 11240238
22 LDLR NM_000527.4(LDLR): c.2483A> G (p.Tyr828Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942085 GRCh37 Chromosome 19, 11240282: 11240282
23 LDLR NM_000527.4(LDLR): c.2447_2450dupAGAA (p.Asn817Lysfs) duplication Pathogenic rs387906302 GRCh37 Chromosome 19, 11240246: 11240249
24 LDLR NM_000527.4(LDLR): c.670G> A (p.Asp224Asn) single nucleotide variant Pathogenic/Likely pathogenic rs387906303 GRCh37 Chromosome 19, 11216252: 11216252
25 LDLR LDLR, EX2-8DUP duplication Pathogenic
26 LDLR FH Paris 2 duplication Pathogenic
27 LDLR NC_000019.10 deletion Pathogenic GRCh38 Chromosome 19, 11077742: 11093630
28 LDLR FH French Canadian 5 deletion Pathogenic GRCh38 Chromosome 19, 11089616: 11105219
29 LDLR NG_009060.1: g.39215_47749del8535 deletion Pathogenic GRCh38 Chromosome 19, 11123595: 11132129
30 LDLR FH Vancouver 4 deletion Pathogenic GRCh38 Chromosome 19, 11089616: 11110651
31 LDLR FH Vancouver 3 deletion Pathogenic GRCh38 Chromosome 19, 11100346: 11113277
32 LDLR FH London 2 deletion Pathogenic
33 LDLR FH Osaka 2 deletion Pathogenic GRCh37 Chromosome 19, 11221006: 11232481
34 LDLR FH Vancouver 2 deletion Pathogenic
35 LDLR FH Vancouver 6 deletion Pathogenic
36 LDLR FH Reykjavik deletion Pathogenic
37 LDLR FH Tsukuba 2 deletion Pathogenic
38 LDLR LDLR, EX17-18DEL deletion Pathogenic
39 LDLR FH Leiden 3 deletion Pathogenic
40 LDLR NM_000527.4(LDLR): c.1891_2311+1062del (p.(?)) deletion Pathogenic/Likely pathogenic GRCh38 Chromosome 19, 11120137: 11124406
41 LDLR NM_000527.4(LDLR): c.523G> A (p.Asp175Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121908033 GRCh37 Chromosome 19, 11216105: 11216105
42 LDLR NM_000527.4(LDLR): c.564C> G (p.Tyr188Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908034 GRCh37 Chromosome 19, 11216146: 11216146
43 LDLR FH Pavia deletion Pathogenic
44 LDLR NM_000527.4(LDLR): c.925_931delCCCATCA (p.Pro309Lysfs) deletion Pathogenic rs387906304 GRCh37 Chromosome 19, 11218175: 11218181
45 LDLR NM_000527.4(LDLR): c.693C> A (p.Cys231Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908035 GRCh37 Chromosome 19, 11216275: 11216275
46 LDLR NM_000527.4(LDLR): c.680_681delAC (p.Asp227Glyfs) deletion Pathogenic/Likely pathogenic rs387906305 GRCh37 Chromosome 19, 11216262: 11216263
47 LDLR NM_000527.4(LDLR): c.1297G> C (p.Asp433His) single nucleotide variant Pathogenic/Likely pathogenic rs121908036 GRCh37 Chromosome 19, 11224064: 11224064
48 LDLR NM_000527.4(LDLR): c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp) duplication Pathogenic/Likely pathogenic rs387906306 GRCh37 Chromosome 19, 11216246: 11216263
49 LDLR NM_000527.4(LDLR): c.2531G> A (p.Gly844Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121908037 GRCh37 Chromosome 19, 11240330: 11240330
50 LDLR NM_000527.4(LDLR): c.1202T> A (p.Leu401His) single nucleotide variant Pathogenic/Likely pathogenic rs121908038 GRCh37 Chromosome 19, 11223969: 11223969

Copy number variations for Hypercholesterolemia, Familial from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 124161 19 1 6900000 Deletion or duplicat ion LDLR hypercholesterolemia
2 124217 19 1 6900000 Deletion LDLR Familial hypercholesterolemia
3 124514 19 11061056 11105505 Copy number LDLR Familial hypercholesterolemia

Expression for Hypercholesterolemia, Familial

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

Pathways for Hypercholesterolemia, Familial

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

(show all 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 ABCA1 APOA1 APOA2 APOA4 APOB APOE
2
Show member pathways
12.69 ABCA1 APOA1 APOA2 HMGCR LPL
3
Show member pathways
12.52 APOA1 APOA2 APOA4 APOB APOE LDLR
4
Show member pathways
12.34 ABCA1 APOA1 APOA2 APOA4 APOB APOE
5
Show member pathways
12.03 APOA1 APOA2 APOA4 APOB APOE LDLR
6
Show member pathways
11.7 APOA1 APOB APOE
7 11.53 HMGCR LDLR LPL
8 11.51 APOA1 APOA2 LPL
9
Show member pathways
11.35 ABCA1 APOA1 APOA4 APOB
10
Show member pathways
11.23 ABCA1 APOA1 APOA2 APOA4 APOB APOE
11 11.01 APOA1 APOA4 APOB
12 10.89 ABCA1 HMGCR LDLR
13 10.84 ABCA1 APOA1 APOA2 APOA4

GO Terms for Hypercholesterolemia, Familial

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.95 APOA1 APOA2 APOA4 APOB APOE LIPC
2 blood microparticle GO:0072562 9.91 APOA1 APOA2 APOA4 APOE ITIH4
3 early endosome GO:0005769 9.86 APOA1 APOA2 APOA4 APOB APOE LDLR
4 clathrin-coated endocytic vesicle membrane GO:0030669 9.72 APOB APOE LDLR
5 endocytic vesicle lumen GO:0071682 9.67 APOA1 APOB APOE
6 intermediate-density lipoprotein particle GO:0034363 9.63 APOA1 APOB APOE
7 very-low-density lipoprotein particle GO:0034361 9.63 APOA1 APOA2 APOA4 APOB APOE LPL
8 low-density lipoprotein particle GO:0034362 9.62 APOA1 APOB APOE LDLR
9 endolysosome membrane GO:0036020 9.58 LDLR PCSK9
10 spherical high-density lipoprotein particle GO:0034366 9.56 APOA1 APOA2
11 PCSK9-LDLR complex GO:1990666 9.52 LDLR PCSK9
12 chylomicron GO:0042627 9.43 APOA1 APOA2 APOA4 APOB APOE LPL
13 discoidal high-density lipoprotein particle GO:0034365 9.24 APOA1
14 high-density lipoprotein particle GO:0034364 9.23 ABCA1 APOA1 APOA2 APOA4 APOE CETP
15 extracellular exosome GO:0070062 10.27 APOA1 APOA2 APOA4 APOB APOE CETP
16 extracellular region GO:0005576 10.25 APOA1 APOA2 APOA4 APOB APOE CETP
17 extracellular space GO:0005615 10.15 APOA1 APOA2 APOA4 APOB APOE CETP
18 cell surface GO:0009986 10.02 ABCA1 APOA1 APOA4 GHR LDLR LPL

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

(show top 50) (show all 63)
id Name GO ID Score Top Affiliating Genes
1 triglyceride catabolic process GO:0019433 9.99 APOA1 APOB APOE LIPC LPL
2 regulation of lipid metabolic process GO:0019216 9.98 ABCA1 APOA1 APOA2 HMGCR
3 phospholipid metabolic process GO:0006644 9.97 APOA1 LCAT LPL PCSK9
4 high-density lipoprotein particle assembly GO:0034380 9.97 ABCA1 APOA1 APOA2 APOA4 APOE
5 phospholipid efflux GO:0033700 9.97 ABCA1 APOA1 APOA2 APOA4 APOE
6 low-density lipoprotein particle remodeling GO:0034374 9.97 APOA2 APOB APOE CETP LIPC LPA
7 chylomicron assembly GO:0034378 9.96 APOA1 APOA2 APOA4 APOB APOE
8 phospholipid transport GO:0015914 9.95 ABCA1 APOA1 CETP LDLR
9 chylomicron remodeling GO:0034371 9.95 APOA1 APOA2 APOA4 APOB APOE LPL
10 low-density lipoprotein particle clearance GO:0034383 9.92 APOB LDLR LDLRAP1 PCSK9
11 cholesterol transport GO:0030301 9.92 ABCA1 APOA1 APOA2 APOB CETP LCAT
12 lipid catabolic process GO:0016042 9.91 APOB LIPC LPL
13 positive regulation of cholesterol esterification GO:0010873 9.91 APOA1 APOA2 APOA4 APOE
14 lipoprotein biosynthetic process GO:0042158 9.91 ABCA1 APOA1 APOB APOE LCAT
15 response to nutrient GO:0007584 9.9 ABCA1 APOA1 HMGCR
16 chylomicron remnant clearance GO:0034382 9.9 APOB APOE LDLR LIPC
17 cholesterol biosynthetic process GO:0006695 9.88 APOA1 APOA4 HMGCR
18 phosphatidylcholine biosynthetic process GO:0006656 9.87 APOA1 APOA2 LCAT
19 lipid homeostasis GO:0055088 9.86 APOA4 APOE CETP
20 lipoprotein metabolic process GO:0042157 9.86 ABCA1 APOA1 APOA2 APOA4 APOB APOE
21 phosphatidylcholine metabolic process GO:0046470 9.84 APOA4 CETP LCAT
22 phospholipid homeostasis GO:0055091 9.83 ABCA1 APOA1 CETP
23 high-density lipoprotein particle clearance GO:0034384 9.83 APOA1 APOA2 APOE
24 neuron projection regeneration GO:0031102 9.82 APOA1 APOA4 APOE
25 regulation of Cdc42 protein signal transduction GO:0032489 9.81 ABCA1 APOA1 APOE
26 regulation of intestinal cholesterol absorption GO:0030300 9.8 APOA1 APOA2 APOA4
27 lipoprotein catabolic process GO:0042159 9.79 APOB APOE LDLR
28 reverse cholesterol transport GO:0043691 9.76 ABCA1 APOA1 APOA2 APOA4 APOE CETP
29 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.73 APOB LPL
30 positive regulation of cholesterol efflux GO:0010875 9.73 ABCA1 APOE
31 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.73 ABCA1 CETP
32 positive regulation of fatty acid biosynthetic process GO:0045723 9.73 APOA1 APOA4
33 regulation of lipoprotein lipase activity GO:0051004 9.72 LIPC LPL
34 positive regulation of lipoprotein lipase activity GO:0051006 9.72 APOA1 APOA4
35 amyloid precursor protein metabolic process GO:0042982 9.72 APOE LDLRAP1
36 positive regulation of triglyceride catabolic process GO:0010898 9.72 APOA1 APOA4
37 positive regulation of cholesterol storage GO:0010886 9.71 APOB LPL
38 cholesterol import GO:0070508 9.71 APOA1 LDLR
39 negative regulation of cytokine secretion involved in immune response GO:0002740 9.71 APOA1 APOA2
40 peptidyl-methionine modification GO:0018206 9.71 APOA1 APOA2
41 very-low-density lipoprotein particle clearance GO:0034447 9.71 APOB APOE
42 negative regulation of lipase activity GO:0060192 9.7 APOA1 APOA2
43 receptor-mediated endocytosis involved in cholesterol transport GO:0090118 9.69 LDLR LDLRAP1
44 protein oxidation GO:0018158 9.69 APOA1 APOA2
45 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.69 APOA1 APOA2
46 regulation of high-density lipoprotein particle assembly GO:0090107 9.68 ABCA1 LCAT
47 positive regulation of low-density lipoprotein particle receptor catabolic process GO:0032805 9.68 APOE PCSK9
48 high-density lipoprotein particle remodeling GO:0034375 9.5 APOA1 APOA2 APOA4 APOE CETP LCAT
49 regulation of cholesterol metabolic process GO:0090181 9.36 EPHX2
50 very-low-density lipoprotein particle remodeling GO:0034372 9.1 APOA4 APOE CETP LCAT LIPC LPL

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

(show all 24)
id Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.95 APOA1 APOA2 APOA4 APOB APOE CETP
2 heparin binding GO:0008201 9.91 APOB APOE LIPC LPA LPL
3 phospholipid binding GO:0005543 9.85 ABCA1 APOA1 APOA2 APOB APOE
4 phosphatidylcholine binding GO:0031210 9.73 APOA1 APOA2 APOA4 CETP
5 phospholipid transporter activity GO:0005548 9.71 ABCA1 APOA1 CETP
6 low-density lipoprotein particle receptor binding GO:0050750 9.71 APOB APOE LDLRAP1 PCSK9
7 low-density lipoprotein particle binding GO:0030169 9.7 LDLR LIPC PCSK9
8 beta-amyloid binding GO:0001540 9.67 APOA1 APOE LDLRAP1
9 apolipoprotein binding GO:0034185 9.65 ABCA1 LIPC LPA LPL PCSK9
10 cholesterol binding GO:0015485 9.63 ABCA1 APOA1 APOA2 APOA4 APOE CETP
11 triglyceride lipase activity GO:0004806 9.62 LIPC LPL
12 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.62 APOA1 APOA2 APOA4 APOE
13 phospholipase activity GO:0004620 9.61 LIPC LPL
14 high-density lipoprotein particle binding GO:0008035 9.6 APOA1 APOA2
15 lipase inhibitor activity GO:0055102 9.59 APOA1 APOA2
16 lipoprotein particle binding GO:0071813 9.58 APOA1 APOE
17 apolipoprotein A-I binding GO:0034186 9.58 ABCA1 LCAT
18 very-low-density lipoprotein particle receptor binding GO:0070326 9.57 APOE PCSK9
19 high-density lipoprotein particle receptor binding GO:0070653 9.56 APOA1 APOA2
20 triglyceride binding GO:0017129 9.55 CETP LPL
21 apolipoprotein receptor binding GO:0034190 9.54 APOA1 APOA2 PCSK9
22 lipid transporter activity GO:0005319 9.43 APOA1 APOA2 APOA4 APOB APOE CETP
23 cholesterol transporter activity GO:0017127 9.17 ABCA1 APOA1 APOA2 APOA4 APOB APOE
24 protein homodimerization activity GO:0042803 10.08 APOA2 APOA4 APOE EPHX2 GHR HMGCR

Sources for Hypercholesterolemia, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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