MCID: HYP607
MIFTS: 81

Hypercholesterolemia, Familial

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Hypercholesterolemia, Familial

MalaCards integrated aliases for Hypercholesterolemia, Familial:

Name: Hypercholesterolemia, Familial 53 13 37 69
Familial Hypercholesterolemia 37 12 23 49 71 28 14
Hypercholesterolemia 53 72 24 51 69
Hyperlipoproteinemia Type Iia 23 49 36 69
Hypercholesterolemia, Autosomal Dominant 23 51
Hyperlipoproteinemia, Type Ii 53 49
Hyperlipoproteinemia Type Ii 72 41
Hyperbetalipoproteinemia 12 28
Fh 53 71
Coronary Artery Disease in Familial Hypercholesterolemia, Protection Against 53
Hypercholesterolemia, Familial, Due to Ldlr Defect, Modifier of 53
Hypercholesterolemic Xanthomatosis, Familial 53
Hypercholesterolemia, Familial, Modifier of 53
Familial Hypercholesterolemic Xanthomatosis 49
Fredrickson Type Iia Hyperlipoproteinemia 12
Hypercholesterolemia, Susceptibility to 53
Familial Hyperbetalipoproteinaemia 12
Hyper-Low-Density-Lipoproteinemia 53
Hyper-Low Density-Lipoproteinemia 49
Fredrickson Type Iia Lipidaemia 12
Hyperlipoproteinemia, Type Iia 53
Familial Hypercholesterolaemia 36
Familial Hypercholesterolemias 28
Familial Hypercholesterolæmia 23
Hypercholesterolemia Familial 51
Hyperlipoproteinemia Type Iib 69
Familial Hypercholesteremia 12
Ldl Cholesterol Level Qtl2 53
Type Ii Hyperlipidemia 12
Ldl Receptor Disorder 53
Elevated Cholesterol 24
Fhc; Fh 53
Fhc 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
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 : 49 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, autosomal dominant, 3 and hypercholesterolemia, autosomal recessive, and has symptoms including hypertriglyceridemia, hypercholesterolemia and abnormality of the skin. An important gene associated with Hypercholesterolemia, Familial 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, skin and heart, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

OMIM : 53 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).

Genetics Home Reference : 24 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.

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

Wikipedia : 72 Hypercholesterolemia, also called high cholesterol, is the presence of high levels of cholesterol in the... more...

GeneReviews: NBK174884

Related Diseases for Hypercholesterolemia, Familial

Diseases in the Hypercholesterolemia, Familial family:

Hypercholesterolemia, Autosomal Dominant, Type B Hypercholesterolemia, Autosomal Dominant, 3
Hypercholesterolemia, Autosomal Recessive

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

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, autosomal dominant, 3 33.1 LDLR PCSK9
2 hypercholesterolemia, autosomal recessive 32.7 LDLR LDLRAP1 PCSK9
3 hypercholesterolemia, autosomal dominant, type b 32.6 APOB APOE LDLR
4 hyperlipidemia, familial combined 32.0 APOA1 APOB APOE HMGCR LPL
5 hyperlipoproteinemia, type iii 31.9 APOA1 APOB APOE CETP COG2 HMGCR
6 defective apolipoprotein b-100 30.4 APOB APOE HMGCR LCAT LDLR
7 xanthomatosis 30.2 APOB APOE HMGCR LDLR LDLRAP1 LPA
8 hypertension, essential 30.1 APOA1 APOB LPA LPL
9 homozygous familial hypercholesterolemia 29.9 APOB APOE HMGCR LDLR LDLRAP1 LIPC
10 hyperalphalipoproteinemia 1 29.7 ABCA1 APOA1 APOA2 APOB APOE CETP
11 hyperlipoproteinemia, type ii, and deafness 12.1
12 hereditary leiomyomatosis and renal cell cancer 11.9
13 fumarase deficiency 11.9
14 hyperaldosteronism, familial, type iii 11.8
15 floating-harbor syndrome 11.7
16 renal cell carcinoma, papillary, 1 11.7
17 leiomyomatosis 11.5
18 leiomyoma 11.4
19 paraganglioma 11.4
20 hyperaldosteronism, familial, type ii 11.4
21 leiomyosarcoma 11.4
22 renal cell carcinoma, nonpapillary 11.3
23 leiomyoma, uterine 11.3
24 fumarate hydratase deficiency 11.3
25 histiocytosis-lymphadenopathy plus syndrome 11.3
26 pheochromocytoma 11.2
27 familial hyperaldosteronism 11.2
28 hyperaldosteronism, familial, type i 11.2
29 fitz-hugh-curtis syndrome 11.2
30 encephalopathy 11.1
31 hereditary paraganglioma-pheochromocytoma syndromes 11.1
32 hyperaldosteronism, familial, type iv 11.0
33 kidney cancer 11.0
34 asperger syndrome 11.0
35 cutaneous leiomyosarcoma 11.0
36 cardiomyopathy, familial hypertrophic, 1 10.9
37 birt-hogg-dube syndrome 10.9
38 deafness, autosomal dominant 69 10.9
39 carrion's disease 10.9
40 reproductive organ benign neoplasm 10.9
41 cell type benign neoplasm 10.9
42 uterine benign neoplasm 10.9
43 ovarian benign neoplasm 10.9
44 gastric leiomyoma 10.9
45 acute contagious conjunctivitis 10.9
46 skin sarcoma 10.9
47 mucinous ovarian cystadenoma 10.9
48 ovarian cystadenoma 10.9
49 hereditary renal cell carcinoma 10.9
50 leiomyoma cutis 10.9

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:

53
Head And Neck Eyes:
xanthelasma
corneal arcus

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

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

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


Clinical features from OMIM:

143890

Human phenotypes related to Hypercholesterolemia, Familial:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hypertriglyceridemia 31 HP:0002155
2 hypercholesterolemia 31 HP:0003124
3 abnormality of the skin 31 HP:0000951
4 xanthelasma 31 HP:0001114
5 corneal arcus 31 HP:0001084
6 increased circulating low-density lipoprotein levels 31 HP:0003141
7 type iv atherosclerotic lesion 31 HP:0002635

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.73 ABCA1 APOA1 APOB APOE CETP HMGCR
2 Increased LDL uptake GR00340-A-1 8.92 APOA1 APOE LDLR LPL

MGI Mouse Phenotypes related to Hypercholesterolemia, Familial:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.86 LCAT LDLR LDLRAP1 LIPC ABCA1 LPL
2 cardiovascular system MP:0005385 9.85 LCAT LDLR ABCA1 LPL APOA1 MTTP
3 liver/biliary system MP:0005370 9.4 LDLR ABCA1 LPL APOA1 MTTP APOB

Drugs & Therapeutics for Hypercholesterolemia, Familial

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

(show top 50) (show all 100)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1 22916-47-8 4189
3
Probucol Approved, Investigational Phase 4 23288-49-5 4912
4 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Phase 1
5 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
6 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Phase 1
7 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
9 Antibodies Phase 4,Phase 3,Phase 2
10 Antibodies, Monoclonal Phase 4,Phase 3,Phase 2
11 Immunoglobulins Phase 4,Phase 3,Phase 2
12 Colesevelam Hydrochloride Phase 4,Phase 1
13 calcium heparin Phase 4
14 Antioxidants Phase 4
15 Protective Agents Phase 4
16
Ezetimibe Approved Phase 3,Phase 2 163222-33-1 150311
17
Fluvastatin Approved Phase 3,Phase 2 93957-54-1 1548972
18
Simvastatin Approved Phase 3,Phase 2 79902-63-9 54454
19
Mipomersen Approved, Investigational Phase 3,Phase 2 1000120-98-8
20
Esomeprazole Approved, Investigational Phase 3 161796-78-7, 119141-88-7 9579578 4594
21
Pitavastatin Approved Phase 3,Phase 2 147511-69-1, 147526-32-7 5282452 6366718
22
Pravastatin Approved Phase 3,Phase 2 81093-37-0 54687
23
Lovastatin Approved, Investigational Phase 2, Phase 3 75330-75-5 53232
24
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 1,Phase 2 59-30-3 6037
25
Niacin Approved, Investigational, Nutraceutical Phase 3,Phase 2,Phase 1 59-67-6 938
26
Nicotinamide Approved, Investigational, Nutraceutical Phase 3,Phase 2,Phase 1 98-92-0 936
27
Ubenimex Experimental, Investigational Phase 3 58970-76-6
28 Calcium, Dietary Phase 3,Phase 2,Phase 1
29 Atorvastatin Calcium Phase 3,Phase 2,Phase 1 134523-03-8
30 Bone Density Conservation Agents Phase 3
31 Rosuvastatin Calcium Phase 3,Phase 2 147098-20-2
32
Anacetrapib Phase 3 875446-37-0
33 Anti-Infective Agents Phase 3,Phase 1
34 Oxazolidinones Phase 3
35
Torcetrapib Phase 3 262352-17-0 159325
36 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
37 Ezetimibe, Simvastatin Drug Combination Phase 3
38 Cholestyramine Resin Phase 3,Phase 2
39 Dihydromevinolin Phase 2, Phase 3
40 L 647318 Phase 2, Phase 3
41 Micronutrients Phase 3,Phase 1,Phase 2
42 Nicotinic Acids Phase 3,Phase 2,Phase 1
43 Trace Elements Phase 3,Phase 1,Phase 2
44 Vasodilator Agents Phase 3,Phase 2,Phase 1
45 Vitamin B Complex Phase 3,Phase 1,Phase 2
46 Vitamins Phase 3,Phase 1,Phase 2
47 Adjuvants, Immunologic Phase 3
48 Anti-Bacterial Agents Phase 3
49 Antibiotics, Antitubercular Phase 3
50 Anti-HIV Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 174)

# 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 Evaluating Effect of the Study Drug Praluent (Alirocumab) on Neurocognitive Function When Compared to Placebo Recruiting NCT02957682 Phase 4 Praluent (Alirocumab);Placebo
6 Safety and Tolerability of Repatha in Indian Subjects With Homozygous Familial Hypercholesterolemia Not yet recruiting NCT03403374 Phase 4 Repatha® (evolocumab)
7 Impact of LDL-cholesterol Lowering on Platelet Activation Not yet recruiting NCT03331666 Phase 4 Evolocumab
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 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)
11 An Study to Evaluate Rosuvastatin in Children and Adolescents With Familial Hypercholesterolaemia Completed NCT01078675 Phase 3 rosuvastatin calcium;rosuvastatin calcium;rosuvastatin calcium
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 A Study to Evaluate the Safety of Rosuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia Completed NCT02434497 Phase 3 Rosuvastatin 20mg
15 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
16 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
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 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
22 A Safety and Efficacy Study of AEGR-733 to Treat Homozygous Familial Hypercholesterolemia (FH) Completed NCT00730236 Phase 3 AEGR-733
23 Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia Completed NCT00607373 Phase 3 mipomersen;Placebo
24 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
25 PLUTO: Pediatric Lipid-redUction Trial of rOsuvastatin Completed NCT00355615 Phase 3 Rosuvastatin;Placebo
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 Reduction of LDL-C With PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder Study-2 Completed NCT01763918 Phase 3 Placebo
29 Study To Evaluate The Effect Of Torcetrapib/Atorvastatin In Patients With Genetic High Cholesterol Disorder Completed NCT00134511 Phase 3 Torcetrapib/atorvastatin
30 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)
31 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
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 Open Label Study of Long Term Safety Evaluation of Alirocumab Completed NCT01954394 Phase 3 Alirocumab SAR236553 (REGN727)
36 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)
37 48-wk Open Label Phase IIIb to Evaluate Efficacy and Safety Completed NCT00654602 Phase 3 Rosuvastatin
38 NHLBI Type II Coronary Intervention Study Completed NCT00000594 Phase 3 cholestyramine
39 A Clinical Trial to Assess the Long Term Safety and Tolerability of MK-0653H in Japanese Participants With Hypercholesterolemia (MK-0653H-833) Completed NCT02748057 Phase 3 Ezetimibe;Rosuvastatin
40 IIIb 6 Week Open Label Multicentre Rosuvastatin & Simvastatin Completed NCT00654446 Phase 3 Rosuvastatin;Simvastatin
41 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
42 Evolocumab Versus LDL Apheresis in Patients With Hypercholesterolemia Completed NCT03429998 Phase 3 evolocumab;evolocumab and LDL apheresis
43 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
44 MARS - Monitored Atherosclerosis Regression Study Completed NCT00116870 Phase 2, Phase 3 lovastatin
45 Pediatric Study to Evaluate the Efficacy and Safety of Ezetimibe Monotherapy in Children With Primary Hypercholesterolemia (P05522) Completed NCT00867165 Phase 3 ezetimibe;Placebo
46 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
47 Evolocumab Compared to LDL-C Apheresis in Patients Receiving LDL-C Apheresis Prior to Study Enrollment Completed NCT02585895 Phase 3
48 Efficacy of High and Low-Dose Simvastatin on Vascular Oxidative Stress and Neurological Outcome in Patients With AIS Completed NCT03402204 Phase 3 Simvastatin 10 mg;Simvastatin 40 mg
49 Evaluate the Long-Term Safety and Efficacy of Evinacumab in Patients With Homozygous Familial Hypercholesterolemia Recruiting NCT03409744 Phase 3 evinacumab
50 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

Search NIH Clinical Center for Hypercholesterolemia, Familial

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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:

# Genetic test Affiliating Genes
1 Familial Hypercholesterolemia 28 ABCA1 APOA2 EPHX2 GHR ITIH4 LDLR PPP1R17
2 Familial Hypercholesterolemias 28
3 Hyperbetalipoproteinemia 28

Anatomical Context for Hypercholesterolemia, Familial

MalaCards organs/tissues related to Hypercholesterolemia, Familial:

38
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:
# Tissue Anatomical CompartmentCell Relevance
1 Liver Liver Lobule Hepatocytes Potential therapeutic candidate, affected by disease

Publications for Hypercholesterolemia, Familial

Articles related to Hypercholesterolemia, Familial:

(show top 50) (show all 1032)
# Title Authors Year
1
A case of sitosterolemia misdiagnosed as familial hypercholesterolemia: A 4-year follow-up. ( 29246730 )
2018
2
Oral Fat Tolerance Test for Sitosterolemia and Familial Hypercholesterolemia: A Study Protocol. ( 29353827 )
2018
3
Lomitapide in homozygous familial hypercholesterolemia: cardiology perspective from a single-center experience. ( 29389816 )
2018
4
A nation-wide survey of patients with homozygous familial hypercholesterolemia phenotype undergoing LDL-apheresis in Turkey (A-HIT 1 registry). ( 29407887 )
2018
5
High serum triglyceride concentrations in patients with homozygous familial hypercholesterolemia attenuate the efficacy of lipoprotein apheresis by dextran sulfate adsorption. ( 29407885 )
2018
6
Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor): Implications for the Efficacy of Evolocumab. ( 29284604 )
2017
7
Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia. ( 28761763 )
2017
8
Rapidly progressive atherosclerosis after domino liver transplantation from a teenage donor with homozygous familial hypercholesterolemia. ( 28807459 )
2017
9
Managing Patients With Homozygous Familial Hypercholesterolemia. ( 28838367 )
2017
10
Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-old Girl. ( 29072176 )
2017
11
Familial Hypercholesterolemia and Type 2 Diabetes in the Old Order Amish. ( 28428224 )
2017
12
Efficacy and Safety of Lomitapide in Japanese Patients with Homozygous Familial Hypercholesterolemia. ( 28154305 )
2017
13
Familial hypercholesterolemia: xanthelesma, arcus corneae and tendon xanthomas. ( 28340211 )
2017
14
Balancing Low-density Lipoprotein Cholesterol Reduction and Hepatotoxicity With Lomitapide Mesylate and Mipomersen in Patients With Homozygous Familial Hypercholesterolemia. ( 28509890 )
2017
15
Homozygous familial hypercholesterolemia: Summarized case reports. ( 28126585 )
2017
16
Aortic Calcification Progression in Heterozygote Familial Hypercholesterolemia. ( 28449836 )
2017
17
The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey. ( 27824480 )
2017
18
Scavenger Receptor LOX1 Genotype Predicts Coronary Artery Disease in Patients With Familial Hypercholesterolemia. ( 28941610 )
2017
19
Managing the challenging homozygous familial hypercholesterolemia patient: Academic insights and practical approaches for a severe dyslipidemia, a National Lipid Association Masters Summit. ( 28506384 )
2017
20
Long-Term Efficacy and Safety of the Microsomal Triglyceride Transfer Protein Inhibitor Lomitapide in Patients With Homozygous Familial Hypercholesterolemia. ( 28716835 )
2017
21
Mature proprotein convertase subtilisin/kexin type 9, coronary atheroma burden, and vessel remodeling in heterozygous familial hypercholesterolemia. ( 28502498 )
2017
22
Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia? ( 28502505 )
2017
23
Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome. ( 28958330 )
2017
24
Is lomitapide a life-saving drug in homozygous familial hypercholesterolemia. ( 28952803 )
2017
25
The genetic spectrum of familial hypercholesterolemia in the central south region of China. ( 28235710 )
2017
26
The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation: A NOVEL MECHANISM CAUSING FAMILIAL HYPERCHOLESTEROLEMIA. ( 27998977 )
2017
27
The Low-Density Lipoprotein Receptor Genotype Is a Significant Determinant of the Rebound in Low-Density Lipoprotein Cholesterol Concentration After Lipoprotein Apheresis Among Patients With Homozygous Familial Hypercholesterolemia. ( 28847800 )
2017
28
Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil. ( 28873201 )
2017
29
The effect of lomitapide on cardiovascular outcome measures in homozygous familial hypercholesterolemia: A modelling analysis. ( 28925748 )
2017
30
Homozygous Familial Hypercholesterolemia: Anesthetic Challenges and Review of Literature. ( 28952401 )
2017
31
Impact of lipoprotein apheresis with dextran-sulfate adsorption on the expression of genes involved in cardiovascular health in the blood of patients with homozygous familial hypercholesterolemia. ( 28712132 )
2017
32
A First-in-Class Drug, Lomitapide, Tailored to Patients with Homozygous Familial Hypercholesterolemia is Just about Meeting with Good News to Them. ( 28239069 )
2017
33
Nonclinical Pharmacology/Toxicology Study of AAV8.TBG.mLDLR and AAV8.TBG.hLDLR in a Mouse Model of Homozygous Familial Hypercholesterolemia. ( 28319445 )
2017
34
Efficacy of Rosuvastatin in ChildrenA WithA Homozygous Familial Hypercholesterolemia and Association With Underlying Genetic Mutations. ( 28838366 )
2017
35
ANGPTL3 Inhibition in Homozygous Familial Hypercholesterolemia. ( 28723334 )
2017
36
Alirocumab efficacy in patients with double heterozygous, compound heterozygous, or homozygous familial hypercholesterolemia. ( 29396260 )
2017
37
Left ventricular noncompaction cardiomyopathy with severe coronary artery disease in a young patient with familial hypercholesterolemia. ( 28817544 )
2017
38
A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family. ( 29228028 )
2017
39
Analysis of Children and Adolescents with Familial Hypercholesterolemia. ( 28161202 )
2017
40
Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia. ( 27182539 )
2016
41
LOWER, a registry of lomitapide-treated patients with homozygous familial hypercholesterolemia: Rationale and design. ( 27055957 )
2016
42
Lomitapide for use in patients with homozygous familial hypercholesterolemia: a narrative review. ( 26943823 )
2016
43
Characterization of the unique Chinese W483XA mutation in the low-density lipoprotein-receptor gene in young patients with homozygous familial hypercholesterolemia. ( 27206941 )
2016
44
Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia. ( 27206942 )
2016
45
MTP Gene Variants and Response to Lomitapide in Patients with Homozygous Familial Hypercholesterolemia. ( 27170061 )
2016
46
Lipoprotein apheresis is essential for managing pregnancies in patients with homozygous familial hypercholesterolemia: Seven case series and discussion. ( 27755983 )
2016
47
Progressive Aortic Stenosis in Homozygous Familial Hypercholesterolemia After Liver Transplant. ( 27940769 )
2016
48
The complexities of homozygous familial hypercholesterolemia management. ( 27882690 )
2016
49
Emerging Treatments for Heterozygous and Homozygous Familial Hypercholesterolemia. ( 27667377 )
2016
50
Exploring the complete mutational space of the LDL receptor LA5 domain using molecular dynamics: linking SNPs with disease phenotypes in familial hypercholesterolemia. ( 26755827 )
2016

Variations for Hypercholesterolemia, Familial

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

71 (show top 50) (show all 104)
# 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 rs879254791
39 LDLR p.Ala399Asp VAR_005376 rs875989918
40 LDLR p.Leu414Arg VAR_005379 rs748554592
41 LDLR p.Arg416Gln VAR_005380 rs773658037
42 LDLR p.Arg416Trp VAR_005381 rs570942190
43 LDLR p.Ile423Thr VAR_005382 rs879254849
44 LDLR p.Val429Met VAR_005383 rs28942078
45 LDLR p.Asp433His VAR_005385 rs121908036
46 LDLR p.Asp482His VAR_005391 rs139624145
47 LDLR p.Trp483Arg VAR_005392 rs879254905
48 LDLR p.Val523Met VAR_005395 rs28942080
49 LDLR p.Gly549Asp VAR_005398 rs28941776
50 LDLR p.Asn564His VAR_005399 rs397509365

ClinVar genetic disease variations for Hypercholesterolemia, Familial:

6 (show top 50) (show all 1733)
# Gene Variation Type Significance SNP ID Assembly Location
1 GHR NM_000163.4(GHR): c.1630A> C (p.Ile544Leu) single nucleotide variant risk factor rs6180 GRCh37 Chromosome 5, 42719239: 42719239
2 EPHX2 NM_001979.5(EPHX2): c.860G> A (p.Arg287Gln) single nucleotide variant risk factor rs751141 GRCh37 Chromosome 8, 27373865: 27373865
3 APOA2 APOA2, -265T-C single nucleotide variant risk factor
4 LDLR NM_000527.4(LDLR): c.2140+86C> G single nucleotide variant Pathogenic/Likely pathogenic rs587776886 GRCh38 Chromosome 19, 11120608: 11120608
5 LDLR NM_000527.4(LDLR): c.1055G> A (p.Cys352Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs193922566 GRCh37 Chromosome 19, 11221442: 11221442
6 LDLR NM_000527.4(LDLR): c.1291G> C (p.Ala431Pro) single nucleotide variant Likely pathogenic rs28942079 GRCh37 Chromosome 19, 11224058: 11224058
7 LDLR NM_000527.4(LDLR): c.1358+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs193922567 GRCh37 Chromosome 19, 11224127: 11224127
8 LDLR NM_000527.4(LDLR): c.1381G> A (p.Gly461Ser) single nucleotide variant Likely pathogenic rs193922568 GRCh37 Chromosome 19, 11224233: 11224233
9 LDLR NM_000527.4(LDLR): c.1978C> T (p.Gln660Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922569 GRCh37 Chromosome 19, 11230900: 11230900
10 LDLR NM_000527.4(LDLR): c.362G> A (p.Cys121Tyr) single nucleotide variant Likely pathogenic rs193922571 GRCh37 Chromosome 19, 11215944: 11215944
11 LDLR NM_000527.4(LDLR): c.2397_2405delCGTCTTCCT (p.Val800_Leu802del) deletion Pathogenic/Likely pathogenic rs397509365 GRCh37 Chromosome 19, 11240196: 11240204
12 LDLR NM_000527.4(LDLR): c.653delG (p.Gly218Valfs) deletion Pathogenic/Likely pathogenic rs137853966 GRCh37 Chromosome 19, 11216235: 11216235
13 LDLR NM_000527.4(LDLR): c.2061dupC (p.Asn688Glnfs) duplication Pathogenic rs137853965 GRCh37 Chromosome 19, 11231119: 11231119
14 LDLR NM_000527.4(LDLR): c.296C> G (p.Ser99Ter) single nucleotide variant Pathogenic rs377271627 GRCh37 Chromosome 19, 11213445: 11213445
15 LDLR NM_000527.4(LDLR): c.301G> A (p.Glu101Lys) single nucleotide variant Pathogenic/Likely pathogenic rs144172724 GRCh37 Chromosome 19, 11213450: 11213450
16 LDLR NM_000527.4(LDLR): c.1467C> G (p.Tyr489Ter) single nucleotide variant Pathogenic/Likely pathogenic rs370777955 GRCh37 Chromosome 19, 11224319: 11224319
17 LDLR NM_000527.4(LDLR): c.1775G> A (p.Gly592Glu) single nucleotide variant Pathogenic/Likely pathogenic rs137929307 GRCh37 Chromosome 19, 11227604: 11227604
18 LDLR NM_000527.4(LDLR): c.2475C> G (p.Asn825Lys) single nucleotide variant Pathogenic/Likely pathogenic rs374045590 GRCh37 Chromosome 19, 11240274: 11240274
19 LDLR NM_000527.4(LDLR): c.1359-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs139617694 GRCh37 Chromosome 19, 11224210: 11224210
20 LDLR NM_000527.4(LDLR): c.1186+1G> T single nucleotide variant Likely pathogenic rs730880131 GRCh38 Chromosome 19, 11111640: 11111640
21 LDLR NM_000527.4(LDLR): c.1468T> C (p.Trp490Arg) single nucleotide variant Pathogenic/Likely pathogenic rs730880130 GRCh37 Chromosome 19, 11224320: 11224320
22 LDLR NM_000527.4(LDLR): c.409G> A (p.Gly137Ser) single nucleotide variant Pathogenic/Likely pathogenic rs730882082 GRCh37 Chromosome 19, 11215991: 11215991
23 LDLR NM_000527.4(LDLR): c.502G> A (p.Asp168Asn) single nucleotide variant Pathogenic/Likely pathogenic rs200727689 GRCh37 Chromosome 19, 11216084: 11216084
24 LDLR NM_000527.4(LDLR): c.589T> C (p.Cys197Arg) single nucleotide variant Pathogenic/Likely pathogenic rs730882085 GRCh37 Chromosome 19, 11216171: 11216171
25 LDLR NM_000527.4(LDLR): c.662A> G (p.Asp221Gly) single nucleotide variant Pathogenic/Likely pathogenic rs373822756 GRCh37 Chromosome 19, 11216244: 11216244
26 LDLR NM_000527.4(LDLR): c.665G> A (p.Cys222Tyr) single nucleotide variant Likely pathogenic rs730882086 GRCh37 Chromosome 19, 11216247: 11216247
27 LDLR NM_000527.4(LDLR): c.846C> A (p.Phe282Leu) single nucleotide variant Pathogenic/Likely pathogenic rs730882090 GRCh37 Chromosome 19, 11218096: 11218096
28 LDLR NM_000527.4(LDLR): c.947A> G (p.Asn316Ser) single nucleotide variant Likely pathogenic rs730882094 GRCh37 Chromosome 19, 11221334: 11221334
29 LDLR NM_000527.4(LDLR): c.1195G> A (p.Ala399Thr) single nucleotide variant Pathogenic/Likely pathogenic rs730882099 GRCh37 Chromosome 19, 11223962: 11223962
30 LDLR NM_000527.4(LDLR): c.1246C> T (p.Arg416Trp) single nucleotide variant Pathogenic/Likely pathogenic rs570942190 GRCh37 Chromosome 19, 11224013: 11224013
31 LDLR NM_000527.4(LDLR): c.1294C> G (p.Leu432Val) single nucleotide variant Pathogenic/Likely pathogenic rs730882100 GRCh37 Chromosome 19, 11224061: 11224061
32 LDLR NM_000527.4(LDLR): c.1747C> G (p.His583Asp) single nucleotide variant Likely pathogenic rs730882109 GRCh37 Chromosome 19, 11227576: 11227576
33 LDLR NM_000527.4(LDLR): c.1784G> A (p.Arg595Gln) single nucleotide variant Pathogenic/Likely pathogenic rs201102492 GRCh38 Chromosome 19, 11116937: 11116937
34 PCSK9 NM_174936.3(PCSK9): c.610G> A (p.Asp204Asn) single nucleotide variant Likely pathogenic rs793888521 GRCh37 Chromosome 1, 55518037: 55518037
35 STAP1 NM_012108.3(STAP1): c.139A> G (p.Thr47Ala) single nucleotide variant Likely pathogenic rs793888522 GRCh37 Chromosome 4, 68436820: 68436820
36 LDLR NM_000527.4(LDLR): c.811G> A (p.Val271Ile) single nucleotide variant Likely pathogenic rs749220643 GRCh38 Chromosome 19, 11106681: 11106681
37 LDLR NM_000527.4(LDLR): c.178C> T (p.Gln60Ter) single nucleotide variant Pathogenic rs794728585 GRCh38 Chromosome 19, 11100333: 11100333
38 LDLR NM_000527.4(LDLR): c.501C> A (p.Cys167Ter) single nucleotide variant Pathogenic/Likely pathogenic rs752596535 GRCh37 Chromosome 19, 11216083: 11216083
39 LDLR NM_000527.4(LDLR): c.590G> A (p.Cys197Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs376459828 GRCh38 Chromosome 19, 11105496: 11105496
40 PCSK9 NM_174936.3(PCSK9): c.381T> A (p.Ser127Arg) single nucleotide variant Pathogenic/Likely pathogenic rs28942111 GRCh37 Chromosome 1, 55509689: 55509689
41 PCSK9 NM_174936.3(PCSK9): c.1120G> T (p.Asp374Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs137852912 GRCh37 Chromosome 1, 55523127: 55523127
42 LDLR NM_000527.4(LDLR): c.97C> T (p.Gln33Ter) single nucleotide variant Pathogenic rs121908024 GRCh37 Chromosome 19, 11210928: 11210928
43 LDLR NM_000527.4(LDLR): c.259T> G (p.Trp87Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121908025 GRCh37 Chromosome 19, 11213408: 11213408
44 LDLR NM_000527.4(LDLR): c.530C> T (p.Ser177Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121908026 GRCh37 Chromosome 19, 11216112: 11216112
45 LDLR NM_000527.4(LDLR): c.1694G> T (p.Gly565Val) single nucleotide variant Pathogenic/Likely pathogenic rs28942082 GRCh37 Chromosome 19, 11226877: 11226877
46 LDLR NM_000527.4(LDLR): c.2000G> A (p.Cys667Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs28942083 GRCh37 Chromosome 19, 11231058: 11231058
47 LDLR NM_000527.4(LDLR): c.681C> G (p.Asp227Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121908028 GRCh37 Chromosome 19, 11216263: 11216263
48 LDLR NM_000527.4(LDLR): c.682G> A (p.Glu228Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121908029 GRCh37 Chromosome 19, 11216264: 11216264
49 LDLR NM_000527.4(LDLR): c.910G> A (p.Asp304Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121908030 GRCh37 Chromosome 19, 11218160: 11218160
50 LDLR FH Nashville insertion Pathogenic

Copy number variations for Hypercholesterolemia, Familial from CNVD:

7
# 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 KEGG:

36
# Name Kegg Source Accession
1 Bile secretion hsa04976
2 Endocytosis hsa04144
3 Ovarian steroidogenesis hsa04913

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 ABCA1 APOA1 APOA2 APOB APOE CETP
2
Show member pathways
12.71 ABCA1 APOA1 APOA2 HMGCR LPL
3
Show member pathways
12.52 APOA1 APOA2 APOB APOE LDLR LPL
4
Show member pathways
12.19 ABCA1 APOA1 APOB APOE LDLR
5
Show member pathways
12.06 APOA1 APOA2 APOB APOE LDLR LPL
6
Show member pathways
12 ABCA1 APOA1 APOA2 APOB APOE CETP
7
Show member pathways
11.9 ABCA1 APOA1 APOA2 APOB APOE CETP
8
Show member pathways
11.72 APOA1 APOB APOE
9 11.55 HMGCR LDLR LPL
10 11.53 APOA1 APOA2 LPL
11
Show member pathways
11.27 ABCA1 APOA1 APOB MTTP
12 10.86 ABCA1 APOA1 APOA2
13 10.82 ABCA1 HMGCR LDLR
14
Show member pathways
10.26 LDLR PCSK9

GO Terms for Hypercholesterolemia, Familial

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.91 APOA1 APOA2 APOB APOE LIPC MTTP
2 early endosome GO:0005769 9.87 APOA1 APOA2 APOB APOE LDLR LDLRAP1
3 blood microparticle GO:0072562 9.85 APOA1 APOA2 APOE ITIH4
4 clathrin-coated endocytic vesicle membrane GO:0030669 9.71 APOB APOE LDLR
5 endocytic vesicle lumen GO:0071682 9.65 APOA1 APOB APOE
6 intermediate-density lipoprotein particle GO:0034363 9.58 APOA1 APOB APOE
7 endolysosome membrane GO:0036020 9.57 LDLR PCSK9
8 spherical high-density lipoprotein particle GO:0034366 9.56 APOA1 APOA2
9 low-density lipoprotein particle GO:0034362 9.56 APOA1 APOB APOE LDLR
10 very-low-density lipoprotein particle GO:0034361 9.55 APOA1 APOA2 APOB APOE LPL
11 discoidal high-density lipoprotein particle GO:0034365 9.51 APOA1 APOE
12 PCSK9-LDLR complex GO:1990666 9.49 LDLR PCSK9
13 chylomicron GO:0042627 9.35 APOA1 APOA2 APOB APOE LPL
14 high-density lipoprotein particle GO:0034364 9.17 ABCA1 APOA1 APOA2 APOE CETP LCAT
15 extracellular region GO:0005576 10.23 APOA1 APOA2 APOB APOE CETP GHR
16 extracellular space GO:0005615 10.17 APOA1 APOA2 APOB APOE CETP GHR
17 cell surface GO:0009986 10 ABCA1 APOA1 GHR LDLR LPL PCSK9

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

(show top 50) (show all 66)
# Name GO ID Score Top Affiliating Genes
1 phospholipid transport GO:0015914 9.99 ABCA1 APOA1 CETP LDLR MTTP
2 regulation of lipid metabolic process GO:0019216 9.97 ABCA1 APOA1 APOA2 HMGCR
3 triglyceride homeostasis GO:0070328 9.97 APOA1 APOE CETP LIPC LPL
4 triglyceride catabolic process GO:0019433 9.97 APOA1 APOB APOE LIPC LPL
5 cholesterol efflux GO:0033344 9.96 ABCA1 APOA1 APOA2 APOB APOE
6 steroid metabolic process GO:0008202 9.96 ABCA1 APOA1 APOB APOE CETP HMGCR
7 phospholipid metabolic process GO:0006644 9.95 APOA1 LCAT LPL PCSK9
8 chylomicron assembly GO:0034378 9.93 APOA1 APOA2 APOB APOE MTTP
9 high-density lipoprotein particle remodeling GO:0034375 9.93 APOA1 APOA2 APOE CETP LCAT LIPC
10 low-density lipoprotein particle clearance GO:0034383 9.92 APOB LDLR LDLRAP1 PCSK9
11 lipid catabolic process GO:0016042 9.91 APOB LIPC LPL
12 high-density lipoprotein particle assembly GO:0034380 9.91 ABCA1 APOA1 APOA2 APOE
13 chylomicron remodeling GO:0034371 9.91 APOA1 APOA2 APOB APOE LPL
14 low-density lipoprotein particle remodeling GO:0034374 9.91 APOA2 APOB APOE CETP LIPC LPA
15 response to nutrient GO:0007584 9.9 ABCA1 APOA1 HMGCR
16 phospholipid efflux GO:0033700 9.9 ABCA1 APOA1 APOA2 APOE
17 very-low-density lipoprotein particle remodeling GO:0034372 9.89 APOE CETP LCAT LIPC LPL
18 chylomicron remnant clearance GO:0034382 9.88 APOB APOE LDLR LIPC
19 lipoprotein biosynthetic process GO:0042158 9.88 ABCA1 APOA1 APOB APOE LCAT
20 phosphatidylcholine biosynthetic process GO:0006656 9.85 APOA1 APOA2 LCAT
21 regulation of cholesterol metabolic process GO:0090181 9.82 APOE EPHX2 LDLR
22 phospholipid homeostasis GO:0055091 9.82 ABCA1 APOA1 CETP
23 positive regulation of cholesterol esterification GO:0010873 9.81 APOA1 APOA2 APOE
24 high-density lipoprotein particle clearance GO:0034384 9.81 APOA1 APOA2 APOE
25 cholesterol transport GO:0030301 9.81 ABCA1 APOA1 APOA2 APOB CETP LCAT
26 regulation of Cdc42 protein signal transduction GO:0032489 9.8 ABCA1 APOA1 APOE
27 lipoprotein catabolic process GO:0042159 9.8 APOB APOE LDLR
28 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.73 ABCA1 LDLR
29 lipoprotein transport GO:0042953 9.73 APOB MTTP
30 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.73 APOB LPL
31 positive regulation of cholesterol efflux GO:0010875 9.73 ABCA1 APOE
32 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.73 ABCA1 CETP
33 phosphatidylcholine metabolic process GO:0046470 9.73 CETP LCAT
34 regulation of protein metabolic process GO:0051246 9.72 APOE LDLR
35 protein lipidation GO:0006497 9.72 ABCA1 MTTP
36 amyloid precursor protein metabolic process GO:0042982 9.72 APOE LDLRAP1
37 very-low-density lipoprotein particle assembly GO:0034379 9.72 APOB MTTP
38 regulation of lipoprotein lipase activity GO:0051004 9.71 LIPC LPL
39 neuron projection regeneration GO:0031102 9.71 APOA1 APOE
40 positive regulation of cholesterol storage GO:0010886 9.71 APOB LPL
41 cholesterol import GO:0070508 9.71 APOA1 LDLR
42 negative regulation of cytokine secretion involved in immune response GO:0002740 9.71 APOA1 APOA2
43 peptidyl-methionine modification GO:0018206 9.7 APOA1 APOA2
44 very-low-density lipoprotein particle clearance GO:0034447 9.7 APOB APOE
45 triglyceride transport GO:0034197 9.7 CETP MTTP
46 regulation of intestinal cholesterol absorption GO:0030300 9.69 APOA1 APOA2
47 negative regulation of lipase activity GO:0060192 9.69 APOA1 APOA2
48 receptor-mediated endocytosis involved in cholesterol transport GO:0090118 9.69 LDLR LDLRAP1
49 protein oxidation GO:0018158 9.68 APOA1 APOA2
50 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.68 APOA1 APOA2

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.95 APOA1 APOA2 APOB APOE CETP MTTP
2 heparin binding GO:0008201 9.89 APOB APOE LIPC LPA LPL
3 phospholipid binding GO:0005543 9.83 ABCA1 APOA1 APOA2 APOB APOE
4 amyloid-beta binding GO:0001540 9.81 APOA1 APOE LDLR LDLRAP1
5 phosphatidylcholine binding GO:0031210 9.71 APOA1 APOA2 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 cholesterol binding GO:0015485 9.65 ABCA1 APOA1 APOA2 APOE CETP
9 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.63 APOA1 APOA2 APOE
10 lipid transporter activity GO:0005319 9.63 APOA1 APOA2 APOB APOE CETP MTTP
11 phospholipid transporter activity GO:0005548 9.62 ABCA1 APOA1 CETP MTTP
12 triglyceride lipase activity GO:0004806 9.61 LIPC LPL
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 cholesterol transporter activity GO:0017127 9.43 ABCA1 APOA1 APOA2 APOB APOE CETP
23 apolipoprotein binding GO:0034185 9.1 ABCA1 LIPC LPA LPL MTTP PCSK9

Sources for Hypercholesterolemia, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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