MCID: HYP607
MIFTS: 79

Hypercholesterolemia, Familial

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Hypercholesterolemia, Familial

MalaCards integrated aliases for Hypercholesterolemia, Familial:

Name: Hypercholesterolemia, Familial 57 13 38 40 73
Familial Hypercholesterolemia 38 12 24 53 75 37 29 6 15
Hypercholesterolemia 57 76 25 55 6 73
Hyperlipoproteinemia Type Iia 24 53 37 73
Hyperlipoproteinemia, Type Ii 57 53 75
Hypercholesterolemic Xanthomatosis, Familial 57 75
Hypercholesterolemia, Autosomal Dominant 24 55
Hypercholesterolemia, Susceptibility to 57 6
Hyper-Low-Density-Lipoproteinemia 57 75
Hyperlipoproteinemia, Type Iia 57 75
Familial Hypercholesterolemias 29 6
Hyperlipoproteinemia Type Ii 76 44
Ldl Receptor Disorder 57 75
Fhc 57 75
Fh 57 75
Coronary Artery Disease in Familial Hypercholesterolemia, Protection Against 57
Hypercholesterolemia, Familial, Due to Ldlr Defect, Modifier of 57
Hypercholesterolemia, Familial, Modifier of 57
Familial Hypercholesterolemic Xanthomatosis 53
Fredrickson Type Iia Hyperlipoproteinemia 12
Familial Hyperbetalipoproteinaemia 12
Hyper-Low Density-Lipoproteinemia 53
Fredrickson Type Iia Lipidaemia 12
Familial Hypercholesterolæmia 24
Hypercholesterolemia Familial 55
Hyperlipoproteinemia Type Iib 73
Familial Hypercholesteremia 12
Ldl Cholesterol Level Qtl2 57
Hyperbetalipoproteinemia 12
Type Ii Hyperlipidemia 12
Hypercholesterolaemia 6
Elevated Cholesterol 25
Fhc; Fh 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
hypercholesterolemia, familial:
Inheritance autosomal dominant inheritance


GeneReviews:

24
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 : 53 Familial hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood due to mutations in the LDLR gene. People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of excess cholesterol in other tissues (e.g., in the tendons and skin). Familial hypercholesterolemia tends to be passed through families in an autosomal dominant fashion. There are other hereditary forms of hypercholesterolemia caused by mutations in the APOB, LDLRAP1, or PCSK9 gene. However, most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes.

MalaCards based summary : Hypercholesterolemia, Familial, also known as familial hypercholesterolemia, is related to hypercholesterolemia, autosomal recessive and hypercholesterolemia, autosomal dominant, type b. 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, heart and liver, and related phenotypes are corneal arcus and xanthelasma

OMIM : 57 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 : 75 Familial hypercholesterolemia: A common autosomal dominant disorder characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. The disorder occurs in 2 clinical forms: a mild form that becomes evident in the fourth or fifth decade in individuals carrying heterozygous LDLR mutations; a more severe form that usually manifests in the first two decades of life in individuals with homozygous LDLR mutations.

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.

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

Wikipedia : 76 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 117)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, autosomal recessive 33.5 LDLR LDLRAP1 PCSK9
2 hypercholesterolemia, autosomal dominant, type b 33.2 APOB APOE LDLR
3 hyperlipidemia, familial combined 32.0 APOA1 APOA2 APOB APOE COG2 LPA
4 hyperlipoproteinemia, type iii 31.9 APOA1 APOB APOE CETP COG2 HMGCR
5 xanthomatosis 30.5 APOB APOE HMGCR LDLR LDLRAP1 LPA
6 defective apolipoprotein b-100 30.5 APOB APOE HMGCR LCAT LDLR
7 hypertension, essential 30.5 APOA1 APOB LPA LPL
8 homozygous familial hypercholesterolemia 30.2 APOB APOE HMGCR LDLR LDLRAP1 LIPC
9 hyperlipoproteinemia, type ii, and deafness 12.1
10 hyperaldosteronism, familial, type ii 12.1
11 hereditary leiomyomatosis and renal cell cancer 12.0
12 hyperaldosteronism, familial, type iii 11.9
13 fumarase deficiency 11.9
14 floating-harbor syndrome 11.7
15 renal cell carcinoma, papillary, 1 11.7
16 leiomyomatosis 11.5
17 leiomyoma 11.4
18 leiomyoma, uterine 11.4
19 leiomyosarcoma 11.4
20 renal cell carcinoma, nonpapillary 11.4
21 leiomyoma cutis 11.3
22 histiocytosis-lymphadenopathy plus syndrome 11.3
23 fumarate hydratase deficiency 11.3
24 pheochromocytoma 11.2
25 familial hyperaldosteronism 11.2
26 hyperaldosteronism, familial, type i 11.2
27 fitz-hugh-curtis syndrome 11.2
28 hypercholesterolemia, autosomal dominant, 3 11.1
29 hereditary paraganglioma-pheochromocytoma syndromes 11.1
30 hyperaldosteronism, familial, type iv 11.0
31 asperger syndrome 11.0
32 cutaneous leiomyosarcoma 11.0
33 schnyder corneal dystrophy 11.0 APOA2 APOB APOE
34 xanthoma disseminatum 11.0 APOB APOE
35 cardiomyopathy, familial hypertrophic, 1 10.9
36 apo a-i deficiency 10.9 APOA1 LCAT
37 cholesterol ester storage disease 10.9 APOB COG2 LDLRAP1
38 vitamin e, familial isolated deficiency of 10.9 ABCA1 APOA1 APOB
39 birt-hogg-dube syndrome 10.9
40 deafness, autosomal dominant 69 10.9
41 carrion's disease 10.9
42 reproductive organ benign neoplasm 10.9
43 cell type benign neoplasm 10.9
44 uterine benign neoplasm 10.9
45 ovarian benign neoplasm 10.9
46 gastric leiomyoma 10.9
47 acute contagious conjunctivitis 10.9
48 skin sarcoma 10.9
49 mucinous ovarian cystadenoma 10.9
50 ovarian cystadenoma 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:

57
Head And Neck Eyes:
corneal arcus
xanthelasma

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

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

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


Clinical features from OMIM:

143890

Human phenotypes related to Hypercholesterolemia, Familial:

32
# Description HPO Frequency HPO Source Accession
1 corneal arcus 32 HP:0001084
2 xanthelasma 32 HP:0001114
3 hypercholesterolemia 32 HP:0003124

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.73 PCSK9 ABCA1 APOA1 APOB APOE CETP
2 Increased LDL uptake GR00340-A-1 8.92 APOA1 APOE LDLR LPL

MGI Mouse Phenotypes related to Hypercholesterolemia, Familial:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.86 HMGCR LCAT LDLR LDLRAP1 LIPC ABCA1
2 cardiovascular system MP:0005385 9.85 LCAT LDLR ABCA1 LPL APOA1 MTTP
3 liver/biliary system MP:0005370 9.4 HMGCR ITIH4 LCAT LDLR ABCA1 LPL

Drugs & Therapeutics for Hypercholesterolemia, Familial

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

(show top 50) (show all 101)
# 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 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
4 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
5 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
6 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
7 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
8 Antibodies Phase 4,Phase 3,Phase 2
9 Antibodies, Monoclonal Phase 4,Phase 3,Phase 2
10 Immunoglobulins Phase 4,Phase 3,Phase 2
11 Colesevelam Hydrochloride Phase 4,Phase 1
12 calcium heparin Phase 4
13
Ezetimibe Approved Phase 3,Phase 2,Not Applicable 163222-33-1 150311
14
Fluvastatin Approved Phase 3,Phase 2 93957-54-1 1548972
15
Simvastatin Approved Phase 3,Phase 2 79902-63-9 54454
16
Mipomersen Approved, Investigational Phase 3,Phase 2 1000120-98-8
17
Esomeprazole Approved, Investigational Phase 3 161796-78-7, 119141-88-7 4594 9579578
18
Pitavastatin Approved Phase 3,Phase 2 147511-69-1, 147526-32-7 6366718 5282452
19
Pravastatin Approved Phase 3,Phase 2 81093-37-0 54687
20
Lovastatin Approved, Investigational Phase 2, Phase 3 75330-75-5 53232
21
Fenofibrate Approved Phase 3,Phase 2 49562-28-9 3339
22
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 1,Phase 2 59-30-3 6037
23
Niacin Approved, Investigational, Nutraceutical Phase 3,Phase 2,Phase 1 59-67-6 938
24
Nicotinamide Approved, Investigational, Nutraceutical Phase 3,Phase 2,Phase 1 98-92-0 936
25
Anacetrapib Investigational Phase 3 875446-37-0
26
Torcetrapib Investigational Phase 3 262352-17-0 159325
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 Anti-Infective Agents Phase 3,Phase 1
33 Oxazolidinones Phase 3
34 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
35 Ezetimibe, Simvastatin Drug Combination Phase 3
36 Cholestyramine Resin Phase 3,Phase 2
37 Dihydromevinolin Phase 2, Phase 3
38 L 647318 Phase 2, Phase 3
39 Micronutrients Phase 3,Phase 1,Phase 2
40 Nicotinic Acids Phase 3,Phase 2,Phase 1
41 Trace Elements Phase 3,Phase 1,Phase 2
42 Vasodilator Agents Phase 3,Phase 2,Phase 1
43 Vitamin B Complex Phase 3,Phase 1,Phase 2
44 Vitamins Phase 3,Phase 1,Phase 2
45 Adjuvants, Immunologic Phase 3
46 Anti-Bacterial Agents Phase 3
47 Antibiotics, Antitubercular Phase 3
48 Anti-HIV Agents Phase 3
49 Anti-Retroviral Agents Phase 3
50 Antiviral Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 183)
# 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 Evaluating Effect of the Study Drug Praluent (Alirocumab) on Neurocognitive Function When Compared to Placebo Active, not recruiting NCT02957682 Phase 4 Praluent (Alirocumab);Placebo
5 Safety and Tolerability of Repatha in Indian Subjects With Homozygous Familial Hypercholesterolemia Not yet recruiting NCT03403374 Phase 4 Repatha® (evolocumab)
6 Impact of LDL-cholesterol Lowering on Platelet Activation Not yet recruiting NCT03331666 Phase 4 Evolocumab
7 Efficacy and Safety of Lomitapide in Japanese Patients With HoFH on Concurrent Lipid-Lowering Therapy Unknown status NCT02173158 Phase 3 lomitapide
8 Effect of Omega-3 Fatty Acid on Endothelial Function Unknown status NCT01813006 Phase 3 Omega-3;placebo
9 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)
10 An Study to Evaluate Rosuvastatin in Children and Adolescents With Familial Hypercholesterolaemia Completed NCT01078675 Phase 3 rosuvastatin calcium;rosuvastatin calcium;rosuvastatin calcium
11 Efficacy and Safety of Fluvastatin in Children With Heterozygous Familial Hypercholesterolemia Completed NCT00171236 Phase 3 Fluvastatin
12 Long Term, Follow-on Study of Lomitapide in Patients With Homozygous Familial Hypercholesterolemia Completed NCT00943306 Phase 3 lomitapide
13 A Study to Evaluate the Safety of Rosuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia Completed NCT02434497 Phase 3 Rosuvastatin 20mg
14 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
15 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
16 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
17 Trial Evaluating PCSK9 Antibody in Subjects With LDL Receptor Abnormalities Completed NCT01588496 Phase 2, Phase 3 Placebo
18 Atorvastatin Three Year Pediatric Study Completed NCT00827606 Phase 3 atorvastatin
19 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
20 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
21 A Safety and Efficacy Study of AEGR-733 to Treat Homozygous Familial Hypercholesterolemia (FH) Completed NCT00730236 Phase 3 AEGR-733
22 Trial Assessing Long Term USe of PCSK9 Inhibition in Subjects With Genetic LDL Disorders Completed NCT01624142 Phase 2, Phase 3
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 Long-term Safety and Tolerability of Alirocumab (SAR236553/REGN727) Versus Placebo on Top of Lipid-Modifying Therapy in High Cardiovascular Risk Patients With Hypercholesterolemia (ODYSSEY Long Term) Completed NCT01507831 Phase 3 Placebo (for alirocumab);Alirocumab;Lipid-Modifying Therapy (LMT)
49 Phase III Study To Evaluate Alirocumab in Patients With Hypercholesterolemia Not Treated With a Statin (ODYSSEY CHOICE II) Completed NCT02023879 Phase 3 Alirocumab;Placebo (for Alirocumab);Non-statin LMT
50 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

Search NIH Clinical Center for Hypercholesterolemia, Familial

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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 29 ABCA1 APOA2 EPHX2 GHR ITIH4 LDLR PPP1R17
2 Familial Hypercholesterolemias 29

Anatomical Context for Hypercholesterolemia, Familial

MalaCards organs/tissues related to Hypercholesterolemia, Familial:

41
Heart, Liver, Skin, Endothelial, Bone, Testes, Brain
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 1072)
# Title Authors Year
1
A case of sitosterolemia misdiagnosed as familial hypercholesterolemia: A 4-year follow-up. ( 29246730 )
2018
2
Lomitapide in homozygous familial hypercholesterolemia: cardiology perspective from a single-center experience. ( 29389816 )
2018
3
Expression of LDLRs (Low-Density Lipoprotein Receptors), Dyslipidemia Severity, and Response to PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Inhibition in Homozygous Familial Hypercholesterolemia: Connecting the Dots. ( 29467219 )
2018
4
Oral Fat Tolerance Test for Sitosterolemia and Familial Hypercholesterolemia: A Study Protocol. ( 29353827 )
2018
5
Multimodal lipid-lowering treatment in pediatric patients with homozygous familial hypercholesterolemia-target attainment requires further increase of intensity. ( 29502162 )
2018
6
Screening of LDLR and APOB gene mutations inA Mexican patients with homozygous familial hypercholesterolemia. ( 29576406 )
2018
7
A nation-wide survey of patients with homozygous familial hypercholesterolemia phenotype undergoing LDL-apheresis in Turkey (A-HIT 1 registry). ( 29407887 )
2018
8
Severe xanthomatosis in heterozygous familial hypercholesterolemia. ( 29778561 )
2018
9
Two Cases of Surgical Management of Supravalvular Aortic Stenosis in Familial Hypercholesterolemia. ( 29571349 )
2018
10
Fibroblast growth factor-23 in patients with homozygous familial hypercholesterolemia. ( 29550495 )
2018
11
High serum triglyceride concentrations in patients with homozygous familial hypercholesterolemia attenuate the efficacy of lipoprotein apheresis by dextran sulfate adsorption. ( 29407885 )
2018
12
Case report-Rapid regression of xanthomas under lipoprotein apheresis in a boy with homozygous familial hypercholesterolemia. ( 29866529 )
2018
13
Dietary Intake during 56 Weeks of a Low-Fat Diet for Lomitapide Treatment in Japanese Patients with Homozygous Familial Hypercholesterolemia. ( 29899183 )
2018
14
Translating the microRNA signature of microvesicles derived from human coronary artery smooth muscle cells in patients with familial hypercholesterolemia and coronary artery disease. ( 28342976 )
2017
15
Familial hypercholesterolemia: xanthelesma, arcus corneae and tendon xanthomas. ( 28340211 )
2017
16
ANGPTL3 Inhibition in Homozygous Familial Hypercholesterolemia. ( 28723334 )
2017
17
Efficacy of Rosuvastatin in ChildrenA WithA Homozygous Familial Hypercholesterolemia and Association With Underlying Genetic Mutations. ( 28838366 )
2017
18
Rapidly progressive atherosclerosis after domino liver transplantation from a teenage donor with homozygous familial hypercholesterolemia. ( 28807459 )
2017
19
The genetic spectrum of familial hypercholesterolemia in the central south region of China. ( 28235710 )
2017
20
Alirocumab efficacy in patients with double heterozygous, compound heterozygous, or homozygous familial hypercholesterolemia. ( 29396260 )
2017
21
A First-in-Class Drug, Lomitapide, Tailored to Patients with Homozygous Familial Hypercholesterolemia is Just about Meeting with Good News to Them. ( 28239069 )
2017
22
The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation: A NOVEL MECHANISM CAUSING FAMILIAL HYPERCHOLESTEROLEMIA. ( 27998977 )
2017
23
Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome. ( 28958330 )
2017
24
The 9p21.3 locus and cardiovascular risk in familial hypercholesterolemia. ( 28502497 )
2017
25
Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia. ( 28761763 )
2017
26
Managing the challenging homozygous familial hypercholesterolemia patient: Academic insights and practical approaches for a severe dyslipidemia, a National Lipid Association Masters Summit. ( 28506384 )
2017
27
Familial Hypercholesterolemia and Type 2 Diabetes in the Old Order Amish. ( 28428224 )
2017
28
Long-Term Efficacy and Safety of the Microsomal Triglyceride Transfer Protein Inhibitor Lomitapide in Patients With Homozygous Familial Hypercholesterolemia. ( 28716835 )
2017
29
Left ventricular noncompaction cardiomyopathy with severe coronary artery disease in a young patient with familial hypercholesterolemia. ( 28817544 )
2017
30
Is lomitapide a life-saving drug in homozygous familial hypercholesterolemia. ( 28952803 )
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
Managing Patients With Homozygous Familial Hypercholesterolemia. ( 28838367 )
2017
33
Homozygous familial hypercholesterolemia: Summarized case reports. ( 28126585 )
2017
34
Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil. ( 28873201 )
2017
35
Nonclinical Pharmacology/Toxicology Study of AAV8.TBG.mLDLR and AAV8.TBG.hLDLR in a Mouse Model of Homozygous Familial Hypercholesterolemia. ( 28319445 )
2017
36
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
37
Balancing Low-density Lipoprotein Cholesterol Reduction and Hepatotoxicity With Lomitapide Mesylate and Mipomersen in Patients With Homozygous Familial Hypercholesterolemia. ( 28509890 )
2017
38
The effect of lomitapide on cardiovascular outcome measures in homozygous familial hypercholesterolemia: A modelling analysis. ( 28925748 )
2017
39
Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia? ( 28502505 )
2017
40
Significance of lipoprotein(a) levels in familial hypercholesterolemia and coronary artery disease. ( 28351002 )
2017
41
Scavenger Receptor LOX1 Genotype Predicts Coronary Artery Disease in Patients With Familial Hypercholesterolemia. ( 28941610 )
2017
42
Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-old Girl. ( 29072176 )
2017
43
A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family. ( 29228028 )
2017
44
Efficacy and Safety of Lomitapide in Japanese Patients with Homozygous Familial Hypercholesterolemia. ( 28154305 )
2017
45
Mature proprotein convertase subtilisin/kexin type 9, coronary atheroma burden, and vessel remodeling in heterozygous familial hypercholesterolemia. ( 28502498 )
2017
46
Analysis of Children and Adolescents with Familial Hypercholesterolemia. ( 28161202 )
2017
47
The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey. ( 27824480 )
2017
48
The elevation of plasma concentrations of apoB-48-containing lipoproteins in familial hypercholesterolemia is independent of PCSK9 levels. ( 28619117 )
2017
49
Aortic Calcification Progression in Heterozygote Familial Hypercholesterolemia. ( 28449836 )
2017
50
Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor): Implications for the Efficacy of Evolocumab. ( 29284604 )
2017

Variations for Hypercholesterolemia, Familial

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

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

ClinVar genetic disease variations for Hypercholesterolemia, Familial:

6
(show top 50) (show all 5761)
# 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.381T> A (p.Ser127Arg) single nucleotide variant Pathogenic/Likely pathogenic rs28942111 GRCh38 Chromosome 1, 55044016: 55044016
3 PCSK9 NM_174936.3(PCSK9): c.1120G> T (p.Asp374Tyr) single nucleotide variant Likely pathogenic rs137852912 GRCh37 Chromosome 1, 55523127: 55523127
4 PCSK9 NM_174936.3(PCSK9): c.1120G> T (p.Asp374Tyr) single nucleotide variant Likely pathogenic rs137852912 GRCh38 Chromosome 1, 55057454: 55057454
5 LDLR NM_000527.4(LDLR): c.97C> T (p.Gln33Ter) single nucleotide variant Pathogenic rs121908024 GRCh37 Chromosome 19, 11210928: 11210928
6 LDLR NM_000527.4(LDLR): c.97C> T (p.Gln33Ter) single nucleotide variant Pathogenic rs121908024 GRCh38 Chromosome 19, 11100252: 11100252
7 LDLR NM_000527.4(LDLR): c.259T> G (p.Trp87Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121908025 GRCh37 Chromosome 19, 11213408: 11213408
8 LDLR NM_000527.4(LDLR): c.259T> G (p.Trp87Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121908025 GRCh38 Chromosome 19, 11102732: 11102732
9 LDLR NM_000527.4(LDLR): c.530C> T (p.Ser177Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121908026 GRCh37 Chromosome 19, 11216112: 11216112
10 LDLR NM_000527.4(LDLR): c.530C> T (p.Ser177Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121908026 GRCh38 Chromosome 19, 11105436: 11105436
11 LDLR NM_000527.4(LDLR): c.1694G> T (p.Gly565Val) single nucleotide variant Pathogenic/Likely pathogenic rs28942082 GRCh37 Chromosome 19, 11226877: 11226877
12 LDLR NM_000527.4(LDLR): c.1694G> T (p.Gly565Val) single nucleotide variant Pathogenic/Likely pathogenic rs28942082 GRCh38 Chromosome 19, 11116201: 11116201
13 LDLR NM_000527.4(LDLR): c.2000G> A (p.Cys667Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs28942083 GRCh37 Chromosome 19, 11231058: 11231058
14 LDLR NM_000527.4(LDLR): c.2000G> A (p.Cys667Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs28942083 GRCh38 Chromosome 19, 11120382: 11120382
15 LDLR NM_000527.4(LDLR): c.681C> G (p.Asp227Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121908028 GRCh37 Chromosome 19, 11216263: 11216263
16 LDLR NM_000527.4(LDLR): c.681C> G (p.Asp227Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121908028 GRCh38 Chromosome 19, 11105587: 11105587
17 LDLR NM_000527.4(LDLR): c.682G> A (p.Glu228Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121908029 GRCh37 Chromosome 19, 11216264: 11216264
18 LDLR NM_000527.4(LDLR): c.682G> A (p.Glu228Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121908029 GRCh38 Chromosome 19, 11105588: 11105588
19 LDLR NM_000527.4(LDLR): c.910G> A (p.Asp304Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121908030 GRCh37 Chromosome 19, 11218160: 11218160
20 LDLR NM_000527.4(LDLR): c.910G> A (p.Asp304Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121908030 GRCh38 Chromosome 19, 11107484: 11107484
21 LDLR FH Nashville insertion Pathogenic
22 LDLR NM_000527.4(LDLR): c.1285G> A (p.Val429Met) single nucleotide variant Pathogenic/Likely pathogenic rs28942078 GRCh37 Chromosome 19, 11224052: 11224052
23 LDLR NM_000527.4(LDLR): c.1285G> A (p.Val429Met) single nucleotide variant Pathogenic/Likely pathogenic rs28942078 GRCh38 Chromosome 19, 11113376: 11113376
24 LDLR NM_000527.4(LDLR): c.1291G> A (p.Ala431Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28942079 GRCh37 Chromosome 19, 11224058: 11224058
25 LDLR NM_000527.4(LDLR): c.1291G> A (p.Ala431Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28942079 GRCh38 Chromosome 19, 11113382: 11113382
26 LDLR NM_000527.4(LDLR): c.1567G> A (p.Val523Met) single nucleotide variant Pathogenic/Likely pathogenic rs28942080 GRCh37 Chromosome 19, 11224419: 11224419
27 LDLR NM_000527.4(LDLR): c.1567G> A (p.Val523Met) single nucleotide variant Pathogenic/Likely pathogenic rs28942080 GRCh38 Chromosome 19, 11113743: 11113743
28 LDLR NM_000527.4(LDLR): c.1637G> A (p.Gly546Asp) single nucleotide variant Pathogenic/Likely pathogenic rs28942081 GRCh37 Chromosome 19, 11226820: 11226820
29 LDLR NM_000527.4(LDLR): c.1637G> A (p.Gly546Asp) single nucleotide variant Pathogenic/Likely pathogenic rs28942081 GRCh38 Chromosome 19, 11116144: 11116144
30 LDLR NM_000527.4(LDLR): c.1646G> A (p.Gly549Asp) single nucleotide variant Pathogenic/Likely pathogenic rs28941776 GRCh37 Chromosome 19, 11226829: 11226829
31 LDLR NM_000527.4(LDLR): c.1646G> A (p.Gly549Asp) single nucleotide variant Pathogenic/Likely pathogenic rs28941776 GRCh38 Chromosome 19, 11116153: 11116153
32 LDLR NM_000527.4(LDLR): c.2043C> A (p.Cys681Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908031 GRCh37 Chromosome 19, 11231101: 11231101
33 LDLR NM_000527.4(LDLR): c.2043C> A (p.Cys681Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908031 GRCh38 Chromosome 19, 11120425: 11120425
34 LDLR FH Paris 1 deletion Pathogenic GRCh37 Chromosome 19, 11217145: 11217917
35 LDLR FH Paris 1 deletion Pathogenic GRCh38 Chromosome 19, 11106469: 11107241
36 LDLR FH Cape Town 2 deletion Pathogenic/Likely pathogenic GRCh38 Chromosome 19, 11107515: 11113277
37 LDLR FH Cape Town 2 deletion Pathogenic/Likely pathogenic GRCh37 Chromosome 19, 11218191: 11223953
38 LDLR NM_000527.4(LDLR): c.2054C> T (p.Pro685Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28942084 GRCh37 Chromosome 19, 11231112: 11231112
39 LDLR NM_000527.4(LDLR): c.2054C> T (p.Pro685Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28942084 GRCh38 Chromosome 19, 11120436: 11120436
40 LDLR NM_000527.4(LDLR): c.2439G> A (p.Trp813Ter) single nucleotide variant Pathogenic rs121908032 GRCh37 Chromosome 19, 11240238: 11240238
41 LDLR NM_000527.4(LDLR): c.2439G> A (p.Trp813Ter) single nucleotide variant Pathogenic rs121908032 GRCh38 Chromosome 19, 11129562: 11129562
42 LDLR NM_000527.4(LDLR): c.2483A> G (p.Tyr828Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942085 GRCh37 Chromosome 19, 11240282: 11240282
43 LDLR NM_000527.4(LDLR): c.2483A> G (p.Tyr828Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942085 GRCh38 Chromosome 19, 11129606: 11129606
44 LDLR NM_000527.4(LDLR): c.2447_2450dupAGAA (p.Asn817Lysfs) duplication Pathogenic rs387906302 GRCh37 Chromosome 19, 11240246: 11240249
45 LDLR NM_000527.4(LDLR): c.2447_2450dupAGAA (p.Asn817Lysfs) duplication Pathogenic rs387906302 GRCh38 Chromosome 19, 11129570: 11129573
46 LDLR NM_000527.4(LDLR): c.670G> A (p.Asp224Asn) single nucleotide variant Pathogenic/Likely pathogenic rs387906303 GRCh37 Chromosome 19, 11216252: 11216252
47 LDLR NM_000527.4(LDLR): c.670G> A (p.Asp224Asn) single nucleotide variant Pathogenic/Likely pathogenic rs387906303 GRCh38 Chromosome 19, 11105576: 11105576
48 LDLR LDLR, EX2-8DUP duplication Pathogenic
49 LDLR FH Paris 2 duplication Pathogenic
50 LDLR NC_000019.10 deletion Pathogenic GRCh38 Chromosome 19, 11077742: 11093630

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:

37
# 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 9.69 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 9.52 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 10.01 ABCA1 APOA1 GHR LDLR LPL PCSK9

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

(show top 50) (show all 68)
# Name GO ID Score Top Affiliating Genes
1 regulation of lipid metabolic process GO:0019216 9.97 ABCA1 APOA1 APOA2 HMGCR
2 triglyceride homeostasis GO:0070328 9.97 APOA1 APOE CETP LIPC LPL
3 triglyceride catabolic process GO:0019433 9.97 APOA1 APOB APOE LIPC LPL
4 high-density lipoprotein particle remodeling GO:0034375 9.97 APOA1 APOA2 APOE CETP LCAT LIPC
5 phospholipid metabolic process GO:0006644 9.96 APOA1 LCAT LPL PCSK9
6 cholesterol efflux GO:0033344 9.96 ABCA1 APOA1 APOA2 APOB APOE
7 steroid metabolic process GO:0008202 9.96 ABCA1 APOA1 APOB APOE CETP HMGCR
8 chylomicron assembly GO:0034378 9.93 APOA1 APOA2 APOB APOE MTTP
9 low-density lipoprotein particle remodeling GO:0034374 9.93 APOA2 APOB APOE CETP LIPC LPA
10 lipid catabolic process GO:0016042 9.92 APOB LIPC LPL
11 low-density lipoprotein particle clearance GO:0034383 9.92 APOB LDLR LDLRAP1 PCSK9
12 chylomicron remodeling GO:0034371 9.92 APOA1 APOA2 APOB APOE LPL
13 high-density lipoprotein particle assembly GO:0034380 9.91 ABCA1 APOA1 APOA2 APOE
14 lipoprotein biosynthetic process GO:0042158 9.91 ABCA1 APOA1 APOB APOE LCAT
15 very-low-density lipoprotein particle remodeling GO:0034372 9.91 APOA1 APOE CETP LCAT LIPC LPL
16 response to nutrient GO:0007584 9.9 ABCA1 APOA1 HMGCR
17 phospholipid efflux GO:0033700 9.89 ABCA1 APOA1 APOA2 APOE
18 chylomicron remnant clearance GO:0034382 9.88 APOB APOE LDLR LIPC
19 cholesterol biosynthetic process GO:0006695 9.87 APOA1 APOE HMGCR
20 phosphatidylcholine biosynthetic process GO:0006656 9.85 APOA1 APOA2 LCAT
21 phosphatidylcholine metabolic process GO:0046470 9.83 APOA1 CETP LCAT
22 regulation of cholesterol metabolic process GO:0090181 9.82 APOE EPHX2 LDLR
23 positive regulation of cholesterol esterification GO:0010873 9.82 APOA1 APOA2 APOE
24 high-density lipoprotein particle clearance GO:0034384 9.81 APOA1 APOA2 APOE
25 phospholipid homeostasis GO:0055091 9.81 ABCA1 APOA1 CETP
26 cholesterol transport GO:0030301 9.81 ABCA1 APOA1 APOA2 APOB CETP LCAT
27 regulation of Cdc42 protein signal transduction GO:0032489 9.8 ABCA1 APOA1 APOE
28 lipoprotein catabolic process GO:0042159 9.8 APOB APOE LDLR
29 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.74 ABCA1 LDLR
30 lipoprotein transport GO:0042953 9.74 APOB MTTP
31 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.73 APOB LPL
32 positive regulation of lipid biosynthetic process GO:0046889 9.73 APOA1 APOE
33 positive regulation of cholesterol efflux GO:0010875 9.73 ABCA1 APOE
34 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.73 ABCA1 CETP
35 regulation of protein metabolic process GO:0051246 9.73 APOE LDLR
36 protein lipidation GO:0006497 9.73 ABCA1 MTTP
37 amyloid precursor protein metabolic process GO:0042982 9.72 APOE LDLRAP1
38 very-low-density lipoprotein particle assembly GO:0034379 9.72 APOB MTTP
39 regulation of lipoprotein lipase activity GO:0051004 9.72 LIPC LPL
40 neuron projection regeneration GO:0031102 9.72 APOA1 APOE
41 regulation of cholesterol transport GO:0032374 9.71 APOA1 APOE
42 positive regulation of cholesterol storage GO:0010886 9.71 APOB LPL
43 peptidyl-methionine modification GO:0018206 9.71 APOA1 APOA2
44 cholesterol import GO:0070508 9.71 APOA1 LDLR
45 negative regulation of cytokine secretion involved in immune response GO:0002740 9.71 APOA1 APOA2
46 very-low-density lipoprotein particle clearance GO:0034447 9.7 APOB APOE
47 regulation of intestinal cholesterol absorption GO:0030300 9.7 APOA1 APOA2
48 triglyceride transport GO:0034197 9.7 CETP MTTP
49 negative regulation of lipase activity GO:0060192 9.69 APOA1 APOA2
50 protein oxidation GO:0018158 9.69 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 9.85 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 lipid transporter activity GO:0005319 9.63 APOA1 APOA2 APOB APOE CETP MTTP
10 phospholipid transporter activity GO:0005548 9.62 ABCA1 APOA1 CETP MTTP
11 phospholipase activity GO:0004620 9.61 LIPC LPL
12 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.61 APOA1 APOA2 APOE
13 high-density lipoprotein particle binding GO:0008035 9.6 APOA1 APOA2
14 lipoprotein particle binding GO:0071813 9.59 APOA1 APOE
15 lipase inhibitor activity GO:0055102 9.58 APOA1 APOA2
16 apolipoprotein A-I binding GO:0034186 9.58 ABCA1 LCAT
17 very-low-density lipoprotein particle receptor binding GO:0070326 9.57 APOE PCSK9
18 high-density lipoprotein particle receptor binding GO:0070653 9.56 APOA1 APOA2
19 triglyceride binding GO:0017129 9.55 CETP LPL
20 apolipoprotein receptor binding GO:0034190 9.54 APOA1 APOA2 PCSK9
21 cholesterol transporter activity GO:0017127 9.43 ABCA1 APOA1 APOA2 APOB APOE CETP
22 apolipoprotein binding GO:0034185 9.1 ABCA1 LIPC LPA LPL MTTP PCSK9
23 protein binding GO:0005515 10.54 ABCA1 APOA1 APOA2 APOB APOE COG2

Sources for Hypercholesterolemia, Familial

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