FH
MCID: HYP607
MIFTS: 81

Hypercholesterolemia, Familial (FH)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases, Skin 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 29 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 hyperlipidemia, familial combined and hypercholesterolemia, autosomal recessive. 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 Miconazole and Heparin have been mentioned in the context of this disorder. Affiliated tissues include Liver, heart and liver, and related phenotypes are hypercholesterolemia and xanthelasma

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

Genetics Home Reference : 25 Hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. Too much cholesterol, however, increases a person's risk of developing heart disease.

OMIM : 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.

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 357)
# Related Disease Score Top Affiliating Genes
1 hyperlipidemia, familial combined 32.9 LPL LPA COG2 APOB APOA2 APOA1
2 hypercholesterolemia, autosomal recessive 32.6 PCSK9 LDLRAP1 LDLR
3 hypercholesterolemia, autosomal dominant, type b 32.4 LDLR APOE APOB
4 sitosterolemia 32.4 MTTP HMGCR APOB
5 arcus corneae 32.1 PCSK9 LPA LDLRAP1 LDLR LCAT COG2
6 schnyder corneal dystrophy 32.0 APOE APOB APOA2
7 hyperlipoproteinemia, type iii 31.9 APOA1 APOB APOE CETP COG2 HMGCR
8 diabetes mellitus 30.9 LPL LPA LIPC HMGCR COG2 APOB
9 ischemic heart disease 30.7 LPL APOE APOB APOA1
10 myocardial infarction 30.6 LPA LDLR HMGCR COG2 CETP APOE
11 familial hyperlipidemia 30.4 LPL LPA LIPC LDLR LCAT HMGCR
12 arteriosclerosis 30.4 LPA HMGCR COG2 APOE APOB APOA1
13 aortic atherosclerosis 30.4 LPA LDLR CETP APOE ABCA1
14 atherosclerosis susceptibility 30.3 LPA LDLR CETP APOE APOB APOA1
15 homozygous familial hypercholesterolemia 30.3 PCSK9 MTTP LIPC LDLRAP1 LDLR HMGCR
16 hypertriglyceridemia, familial 30.3 LPL LIPC CETP APOE APOB APOA1
17 diabetes mellitus, noninsulin-dependent 30.3 MTTP LPL LPA LIPC LCAT HMGCR
18 peripheral vascular disease 30.3 LPA APOB APOA1
19 heart disease 30.2 LPL LDLR APOE APOB APOA1 ABCA1
20 cerebrovascular disease 30.1 LDLR APOE APOB APOA1
21 stroke, ischemic 30.1 LPA HMGCR COG2 APOE APOB
22 vascular disease 30.1 LPL LPA LDLR HMGCR CETP APOE
23 hyperalphalipoproteinemia 1 30.0 APOE APOB APOA2 APOA1 ABCA1 CETP
24 defective apolipoprotein b-100 30.0 PCSK9 LDLR LCAT HMGCR APOE APOB
25 hypertension, essential 30.0 LPL LPA APOB APOA1
26 lipid metabolism disorder 30.0 MTTP LPL LPA LIPC LDLR LCAT
27 cholesterol ester storage disease 30.0 LDLRAP1 COG2 APOB
28 xanthomatosis 29.9 LPL LPA LDLRAP1 LDLR HMGCR APOE
29 coronary stenosis 29.9 PCSK9 CETP APOE APOB APOA1
30 coronary artery anomaly 29.9 LPL LPA HMGCR COG2 CETP APOB
31 arteries, anomalies of 29.9 LPA LDLR COG2 CETP APOE APOB
32 cerebral atherosclerosis 29.8 APOE APOA1
33 coronary heart disease 1 29.8 LPL LPA LIPC LDLR LCAT HMGCR
34 abetalipoproteinemia 29.7 MTTP LPL LDLR LCAT CETP APOE
35 hyperlipoproteinemia, type ii, and deafness 12.2
36 hyperaldosteronism, familial, type ii 12.2
37 hereditary leiomyomatosis and renal cell cancer 12.1
38 hyperaldosteronism, familial, type iii 12.1
39 fumarase deficiency 12.1
40 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial 12.1
41 hypercholesterolemia suppressor 12.0
42 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 12.0
43 floating-harbor syndrome 11.9
44 renal cell carcinoma, papillary, 1 11.8
45 leiomyomatosis 11.6
46 kidney cancer 11.5
47 renal cell carcinoma, nonpapillary 11.5
48 pheochromocytoma 11.5
49 histiocytosis-lymphadenopathy plus syndrome 11.4
50 fumarate hydratase deficiency 11.4

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:
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:

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.23 PPP1R17
2 Decreased viability GR00221-A-2 10.23 PPP1R17
3 Decreased viability GR00221-A-4 10.23 PPP1R17
4 Decreased viability GR00381-A-1 10.23 PPP1R17
5 Decreased viability GR00402-S-2 10.23 ABCA1 APOA1 APOA2 APOB APOE CETP
6 Decreased free cholesterol GR00340-A-2 10.03 ABCA1 APOA1 APOB APOE CETP HMGCR
7 no effect GR00402-S-1 9.62 ABCA1 APOA1 APOA2 APOB APOE CETP
8 Increased LDL uptake GR00340-A-1 9.26 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 ABCA1 APOA1 APOA2 APOB APOE COG2
2 cardiovascular system MP:0005385 9.85 ABCA1 APOA1 APOB APOE EPHX2 GHR
3 liver/biliary system MP:0005370 9.4 ABCA1 APOA1 APOB APOE GHR HMGCR

Drugs & Therapeutics for Hypercholesterolemia, Familial

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

(show top 50) (show all 95)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1 22916-47-8 4189
2
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
3 Antibodies, Monoclonal Phase 4,Phase 3,Phase 2
4 Immunoglobulins Phase 4,Phase 3,Phase 2
5 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1
6 Antibodies Phase 4,Phase 3,Phase 2
7 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
8 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
10 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
11 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12 Colesevelam Hydrochloride Phase 4,Phase 1
13 calcium heparin Phase 4
14
Ezetimibe Approved Phase 3,Phase 2,Not Applicable 163222-33-1 150311
15
Fluvastatin Approved Phase 3,Phase 2 93957-54-1 1548972
16
Simvastatin Approved Phase 3,Phase 2 79902-63-9 54454
17 Mipomersen Approved, Investigational Phase 3,Phase 2 1000120-98-8
18
Nicotinamide Approved, Investigational Phase 3,Phase 2,Phase 1 98-92-0 936
19
Esomeprazole Approved, Investigational Phase 3 161796-78-7, 119141-88-7 4594 9579578
20
Lovastatin Approved, Investigational Phase 3,Phase 2 75330-75-5 53232
21
Pravastatin Approved Phase 3,Phase 2 81093-37-0 54687
22
Fenofibrate Approved Phase 3,Phase 2 49562-28-9 3339
23
Pitavastatin Approved Phase 3,Phase 2 147511-69-1, 147526-32-7 5282452 6366718
24 sodium fluoride Approved Phase 3 7681-49-4
25
Metoprolol Approved, Investigational Phase 3 37350-58-6, 51384-51-1 4171
26
Nitroglycerin Approved, Investigational Phase 3 55-63-0 4510
27
Bezafibrate Approved, Investigational Phase 3 41859-67-0 39042
28
Niacin Approved, Investigational, Nutraceutical Phase 3,Phase 2,Phase 1 59-67-6 938
29
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 1,Phase 2 59-30-3 6037
30
Anacetrapib Investigational Phase 3 875446-37-0
31
Torcetrapib Investigational Phase 3 262352-17-0 159325
32 Omega 3 Fatty Acid Phase 3,Phase 2,Phase 1
33 Olive Phase 3
34 Calcium, Dietary Phase 3,Phase 2,Phase 1
35 Atorvastatin Calcium Phase 3,Phase 2,Phase 1 134523-03-8
36 Rosuvastatin Calcium Phase 3,Phase 2 147098-20-2
37 Bone Density Conservation Agents Phase 3
38 Anti-Infective Agents Phase 3,Phase 1
39 Oxazolidinones Phase 3
40 Vitamin B Complex Phase 3,Phase 1,Phase 2
41 Vasodilator Agents Phase 3,Phase 2,Phase 1
42 Vitamin B9 Phase 3,Phase 1,Phase 2
43 Trace Elements Phase 3,Phase 1,Phase 2
44 Vitamins Phase 3,Phase 1,Phase 2
45 Micronutrients Phase 3,Phase 1,Phase 2
46 Vitamin B3 Phase 3,Phase 2,Phase 1
47 Folate Phase 3,Phase 1,Phase 2
48 Nicotinic Acids Phase 3,Phase 2,Phase 1
49 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
50 Cholestyramine Resin Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 182)
# Name Status NCT ID Phase Drugs
1 Safety and Tolerability of Repatha in Indian Subjects With Homozygous Familial Hypercholesterolemia Recruiting NCT03403374 Phase 4 Repatha® (evolocumab)
2 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
3 Long Term Safety Study of PRALUENT Enrolling by invitation NCT03694197 Phase 4 Praluent
4 Impact of LDL-cholesterol Lowering on Platelet Activation Not yet recruiting NCT03331666 Phase 4 Evolocumab
5 Low-Density Lipoprotein (LDL) Apheresis Using H.E.L.P. Therapy Completed NCT00916643 Phase 4
6 Evaluating Effect of the Study Drug Praluent (Alirocumab) on Neurocognitive Function When Compared to Placebo Active, not recruiting NCT02957682 Phase 4 Praluent (Alirocumab);Placebo
7 Efficacy and Safety of Colesevelam in Pediatric Patients With Genetic High Cholesterol Completed NCT00145574 Phase 4 colesevelam HCl;placebo
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 Evaluate the Long-Term Safety and Efficacy of Evinacumab in Patients With Homozygous Familial Hypercholesterolemia Enrolling by invitation NCT03409744 Phase 3 evinacumab
14 Efficacy and Safety of Evinacumab in Patients With Homozygous Familial Hypercholesterolemia Recruiting NCT03399786 Phase 3 evinacumab;Placebo
15 A Study to Evaluate the Safety of Rosuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia Completed NCT02434497 Phase 3 Rosuvastatin 20mg
16 A Study to Evaluate the Efficacy and Safety of Rosuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia Completed NCT02226198 Phase 3 Rosuvastatin 20mg;Placebo
17 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
18 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
19 Trial Evaluating PCSK9 Antibody in Subjects With LDL Receptor Abnormalities Completed NCT01588496 Phase 2, Phase 3 Placebo
20 Study to Assess the Tolerability and Efficacy of Anacetrapib Co-administered With Statin in Participants With Heterozygous Familial Hypercholesterolemia (MK-0859-020) Completed NCT01524289 Phase 3 Anacetrapib;Placebo for Anacetrapib
21 Atorvastatin Three Year Pediatric Study Completed NCT00827606 Phase 3 atorvastatin
22 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
23 Study in Participants With Homozygous Familial Hypercholesterolemia (HoFH) Recruiting NCT03156621 Phase 3 Alirocumab;Placebo
24 Evaluate the Efficacy and Safety of Lomitapide in Pediatric Patients With Homozygous Familial Hypercholesterolemia on Stable Lipid-lowering Therapy Withdrawn NCT02765841 Phase 3 Lomitapide
25 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
26 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
27 Carotid IMT (Intima Media Thickening) Study (0524A-041)(TERMINATED) Terminated NCT00384293 Phase 3 Comparator: niacin (+) laropiprant (MK0524A);Comparator: placebo
28 A Safety and Efficacy Study of AEGR-733 to Treat Homozygous Familial Hypercholesterolemia (FH) Completed NCT00730236 Phase 3 AEGR-733
29 Trial Assessing Long Term USe of PCSK9 Inhibition in Subjects With Genetic LDL Disorders Completed NCT01624142 Phase 2, Phase 3
30 Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia Completed NCT00607373 Phase 3 mipomersen;Placebo
31 Trial to Evaluate the Effect of Inclisiran Treatment on Low Density Lipoprotein Cholesterol (LDL-C) in Subjects With Heterozygous Familial Hypercholesterolemia (HeFH) Active, not recruiting NCT03397121 Phase 3 Inclisiran;Placebo
32 Efficacy and Tolerability of Anacetrapib Added to Ongoing Lipid-Lowering Therapy in Adult Participants With Homozygous Familial Hypercholesterolemia (HoFH) (MK-0859-042) Terminated NCT01841684 Phase 3 Anacetrapib;Placebo
33 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
34 PLUTO: Pediatric Lipid-redUction Trial of rOsuvastatin Completed NCT00355615 Phase 3 Rosuvastatin;Placebo
35 Efficacy and Safety Study of Eprotirome in HeFH Patients Who Are on Optimal Standard of Care Terminated NCT01410383 Phase 3 Placebo;Eprotirome;Eprotirome
36 Efficacy and Safety of Lomitapide in Japanese Patients With HoFH on Concurrent Lipid-Lowering Therapy Completed NCT02173158 Phase 3 lomitapide
37 Study To Evaluate The Safety And Efficacy Of Torcetrapib/Atorvastatin In Subjects With Familial Hypercholerolemia Completed NCT00134485 Phase 3 torcetrapib/atorvastatin;atorvastatin
38 Carotid B-Mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrpib/Atorvastatin to Atorvastatin Alone. Completed NCT00136981 Phase 3 torcetrapib/atorvastatin;atorvastatin
39 Reduction of LDL-C With PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder Study-2 Completed NCT01763918 Phase 3 Placebo
40 An Efficacy and Safety Study of Alirocumab in Children and Adolescents With Homozygous Familial Hypercholesterolemia Recruiting NCT03510715 Phase 3 Alirocumab SAR236553 (REGN727);Rosuvastatin;Ezetimibe;Cholestyramine;Nicotinic acid;Fenofibrate;Omega-3 fatty acids;Atorvastatin;Simvastatin;Fluvastatin;Pravastatin;Lovastatin
41 An Efficacy and Safety Study of Alirocumab in Children and Adolescents With Heterozygous Familial Hypercholesterolemia Recruiting NCT03510884 Phase 3 Alirocumab SAR236553 (REGN727);Rosuvastatin;Atorvastatin;Simvastatin;Pravastatin;Lovastatin;Fluvastatin;Ezetimibe;Cholestyramine;Nicotinic acid;Fenofibrate;Omega-3 fatty acids;Placebo
42 Study To Evaluate The Effect Of Torcetrapib/Atorvastatin In Patients With Genetic High Cholesterol Disorder Completed NCT00134511 Phase 3 Torcetrapib/atorvastatin
43 Efficacy of Lapaquistat Acetate Co-Administered With Current Lipid-Lowering Treatment on Blood Cholesterol Levels in Subjects With Homozygous Familial Hypercholesterolemia Terminated NCT00263081 Phase 3 Lapaquistat acetate and current lipid-lowering treatment;Current lipid-lowering treatment
44 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)
45 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
46 Efficacy and Safety of the ACAT Inhibitor CS-505 (Pactimibe) for Reducing the Progression of Carotid Artery Disease. This Study is Also Known as CAPTIVATE. Terminated NCT00151788 Phase 2, Phase 3 Pactimibe sulfate
47 Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED) Terminated NCT00092833 Phase 3 Comparator: ezetimibe
48 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)
49 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)
50 Trial Assessing Efficacy, Safety and Tolerability of PCSK9 Inhibition in Paediatric Subjects With Genetic LDL Disorders Recruiting NCT02392559 Phase 3 Evolocumab;Placebo

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
3 Hypercholesterolemia 29

Anatomical Context for Hypercholesterolemia, Familial

MalaCards organs/tissues related to Hypercholesterolemia, Familial:

41
Heart, Liver, Skin, Testes, Endothelial, Brain, Kidney
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 Affected by disease, potential therapeutic candidate

Publications for Hypercholesterolemia, Familial

Articles related to Hypercholesterolemia, Familial:

(show top 50) (show all 1765)
# 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
Early severe coronary heart disease and ischemic heart failure in homozygous familial hypercholesterolemia: A case report. ( 30335000 )
2018
14
Dietary Intake during 56 Weeks of a Low-Fat Diet for Lomitapide Treatment in Japanese Patients with Homozygous Familial Hypercholesterolemia. ( 29899183 )
2018
15
Safety and Efficacy of Lomitapide in Japanese Patients with Homozygous Familial Hypercholesterolemia (HoFH): Results from the AEGR-733-301 Long-Term Extension Study. ( 30259883 )
2018
16
Multimodal treatment of homozygous familial hypercholesterolemia. ( 30306858 )
2018
17
The efficacy of double filtration plasmapheresis in the treatment of homozygous familial hypercholesterolemia: A single-center experience. ( 30545658 )
2018
18
Efficacy and safety of lipoprotein apheresis in children with homozygous familial hypercholesterolemia: A systematic review. ( 30553758 )
2018
19
Liver Transplantation for Homozygous Familial Hypercholesterolemia. ( 30555131 )
2018
20
Evolocumab for the treatment of heterozygous familial hypercholesterolemia in end-stage chronic kidney disease and dialysis. ( 30545713 )
2018
21
Familial Hypercholesterolemia and Risk of Peripheral Arterial Disease and Chronic Kidney Disease. ( 30085243 )
2018
22
Renal and Splenic Infarction in a Patient with Familial Hypercholesterolemia and Previous Cerebral Infarction. ( 30531677 )
2018
23
Familial hypercholesterolemia supravalvular aortic stenosis and extensive atherosclerosis. ( 30170656 )
2018
24
A familial hypercholesterolemia week in Kyrgyzstan: The joint scientific and practical symposium with the European Atherosclerosis Society (EAS), the International Atherosclerosis Society (IAS) and the Kyrgyz Society of Cardiology (KSC). ( 30545666 )
2018
25
Characterization of Atherosclerosis Formation in a Murine Model of Type IIa Human Familial Hypercholesterolemia. ( 29977908 )
2018
26
Statin Therapy and Risk of Diabetes Mellitus in Aging Patients With Heterozygous Familial Hypercholesterolemia or Familial Combined Hyperlipidemia: A 10-Year Follow-Up. ( 28681648 )
2018
27
Vascular inflammation and metabolic activity in hematopoietic organs and liver in familial combined hyperlipidemia and heterozygous familial hypercholesterolemia. ( 29174439 )
2018
28
Grayscale ultrasonic and shear wave elastographic characteristics of the Achilles' tendon in patients with familial hypercholesterolemia: A pilot study. ( 30527289 )
2018
29
Risk factors for cardiovascular disease in heterozygous familial hypercholesterolemia: A systematic review and meta-analysis. ( 30527766 )
2018
30
How well can familial hypercholesterolemia be identified in an electronic health record database? ( 30532597 )
2018
31
Is diet management helpful in familial hypercholesterolemia? ( 30550385 )
2018
32
Coronary Artery Plaque Regression by a PCSK9 Antibody and Rosuvastatin in Double-heterozygous Familial Hypercholesterolemia with an LDL Receptor Mutation and a PCSK9 V4I Mutation. ( 30555118 )
2018
33
Reconstruction of the Achilles tendon using quadriceps tendon graft in bilateral xanthomas secondary to familial hypercholesterolemia: A case report. ( 30016612 )
2018
34
Some children with a familial hypercholesterolemia mutation may exhibit persistent low LDL levels. ( 30033003 )
2018
35
Prevalence and pharmacologic management of familial hypercholesterolemia in an unselected contemporary cohort of patients with stable coronary artery disease. ( 30039543 )
2018
36
Decreased serum PON1 arylesterase activity in familial hypercholesterolemia patients with a mutated LDLR gene. ( 30044465 )
2018
37
Familial Hypercholesterolemia: New Horizons for Diagnosis and Effective Management. ( 30050433 )
2018
38
Attainment of Recommended Lipid Targets in Patients With Familial Hypercholesterolemia: Real-World Experience With PCSK9 Inhibitors. ( 30056842 )
2018
39
Getting Real With PCSK9 Inhibitors in Familial Hypercholesterolemia. ( 30056849 )
2018
40
Use of cardiovascular risk scores in acute coronary syndrome patients with familial hypercholesterolemia. ( 30057258 )
2018
41
Familial hypercholesterolemia and cardiovascular risk stratification. ( 30061010 )
2018
42
Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel. ( 30071997 )
2018
43
Simplified Canadian Definition for Familial Hypercholesterolemia. ( 30093300 )
2018
44
The Cardiovascular Burden of Undiagnosed Familial Hypercholesterolemia: Need to Modify Guidelines to Encourage Earlier Diagnosis and Therapy. ( 30093301 )
2018
45
Genetically confirmed familial hypercholesterolemia in outpatients with hypercholesterolemia. ( 30108616 )
2018
46
Risk Communication in Families of Children with Familial Hypercholesterolemia: Identifying Motivators and Barriers to Cascade Screening to Improve Diagnosis at a Single Medical Center. ( 30109451 )
2018
47
In pediatric familial hypercholesterolemia, lipoprotein(a) is more predictive than LDL-C for early onset of cardiovascular disease in family members. ( 30150142 )
2018
48
Clinical management of heterozygous familial hypercholesterolemia in a Polish outpatient metabolic clinic: a retrospective observational study. ( 30154876 )
2018
49
Predictors of Family Enrollment in a Genetic Cascade Screening Program for Familial Hypercholesterolemia. ( 30156605 )
2018
50
Familial hypercholesterolemia revealed by multiple xanthomas. ( 30167056 )
2018

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 6052)
# 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 Pathogenic/Likely pathogenic rs137852912 GRCh37 Chromosome 1, 55523127: 55523127
4 PCSK9 NM_174936.3(PCSK9): c.1120G> T (p.Asp374Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs137852912 GRCh38 Chromosome 1, 55057454: 55057454
5 PCSK9 NM_174936.3(PCSK9): c.137G> T (p.Arg46Leu) single nucleotide variant Conflicting interpretations of pathogenicity, association rs11591147 GRCh37 Chromosome 1, 55505647: 55505647
6 PCSK9 NM_174936.3(PCSK9): c.137G> T (p.Arg46Leu) single nucleotide variant Conflicting interpretations of pathogenicity, association rs11591147 GRCh38 Chromosome 1, 55039974: 55039974
7 LDLR NM_000527.4(LDLR): c.97C> T (p.Gln33Ter) single nucleotide variant Pathogenic rs121908024 GRCh37 Chromosome 19, 11210928: 11210928
8 LDLR NM_000527.4(LDLR): c.97C> T (p.Gln33Ter) single nucleotide variant Pathogenic rs121908024 GRCh38 Chromosome 19, 11100252: 11100252
9 LDLR NM_000527.4(LDLR): c.259T> G (p.Trp87Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121908025 GRCh37 Chromosome 19, 11213408: 11213408
10 LDLR NM_000527.4(LDLR): c.259T> G (p.Trp87Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121908025 GRCh38 Chromosome 19, 11102732: 11102732
11 LDLR NM_000527.4(LDLR): c.530C> T (p.Ser177Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121908026 GRCh37 Chromosome 19, 11216112: 11216112
12 LDLR NM_000527.4(LDLR): c.530C> T (p.Ser177Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121908026 GRCh38 Chromosome 19, 11105436: 11105436
13 LDLR NM_000527.4(LDLR): c.1694G> T (p.Gly565Val) single nucleotide variant Pathogenic/Likely pathogenic rs28942082 GRCh37 Chromosome 19, 11226877: 11226877
14 LDLR NM_000527.4(LDLR): c.1694G> T (p.Gly565Val) single nucleotide variant Pathogenic/Likely pathogenic rs28942082 GRCh38 Chromosome 19, 11116201: 11116201
15 LDLR NM_000527.4(LDLR): c.2000G> A (p.Cys667Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs28942083 GRCh37 Chromosome 19, 11231058: 11231058
16 LDLR NM_000527.4(LDLR): c.2000G> A (p.Cys667Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs28942083 GRCh38 Chromosome 19, 11120382: 11120382
17 LDLR NM_000527.4(LDLR): c.681C> G (p.Asp227Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121908028 GRCh37 Chromosome 19, 11216263: 11216263
18 LDLR NM_000527.4(LDLR): c.681C> G (p.Asp227Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121908028 GRCh38 Chromosome 19, 11105587: 11105587
19 LDLR NM_000527.4(LDLR): c.682G> A (p.Glu228Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121908029 GRCh37 Chromosome 19, 11216264: 11216264
20 LDLR NM_000527.4(LDLR): c.682G> A (p.Glu228Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121908029 GRCh38 Chromosome 19, 11105588: 11105588
21 LDLR NM_000527.4(LDLR): c.910G> A (p.Asp304Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121908030 GRCh37 Chromosome 19, 11218160: 11218160
22 LDLR NM_000527.4(LDLR): c.910G> A (p.Asp304Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121908030 GRCh38 Chromosome 19, 11107484: 11107484
23 LDLR FH Nashville insertion Pathogenic
24 LDLR NM_000527.4(LDLR): c.1285G> A (p.Val429Met) single nucleotide variant Pathogenic/Likely pathogenic rs28942078 GRCh37 Chromosome 19, 11224052: 11224052
25 LDLR NM_000527.4(LDLR): c.1285G> A (p.Val429Met) single nucleotide variant Pathogenic/Likely pathogenic rs28942078 GRCh38 Chromosome 19, 11113376: 11113376
26 LDLR NM_000527.4(LDLR): c.1291G> A (p.Ala431Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28942079 GRCh37 Chromosome 19, 11224058: 11224058
27 LDLR NM_000527.4(LDLR): c.1291G> A (p.Ala431Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28942079 GRCh38 Chromosome 19, 11113382: 11113382
28 LDLR NM_000527.4(LDLR): c.1567G> A (p.Val523Met) single nucleotide variant Pathogenic/Likely pathogenic rs28942080 GRCh37 Chromosome 19, 11224419: 11224419
29 LDLR NM_000527.4(LDLR): c.1567G> A (p.Val523Met) single nucleotide variant Pathogenic/Likely pathogenic rs28942080 GRCh38 Chromosome 19, 11113743: 11113743
30 LDLR NM_000527.4(LDLR): c.1637G> A (p.Gly546Asp) single nucleotide variant Pathogenic/Likely pathogenic rs28942081 GRCh37 Chromosome 19, 11226820: 11226820
31 LDLR NM_000527.4(LDLR): c.1637G> A (p.Gly546Asp) single nucleotide variant Pathogenic/Likely pathogenic rs28942081 GRCh38 Chromosome 19, 11116144: 11116144
32 LDLR NM_000527.4(LDLR): c.1646G> A (p.Gly549Asp) single nucleotide variant Pathogenic/Likely pathogenic rs28941776 GRCh37 Chromosome 19, 11226829: 11226829
33 LDLR NM_000527.4(LDLR): c.1646G> A (p.Gly549Asp) single nucleotide variant Pathogenic/Likely pathogenic rs28941776 GRCh38 Chromosome 19, 11116153: 11116153
34 LDLR NM_000527.4(LDLR): c.2043C> A (p.Cys681Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908031 GRCh37 Chromosome 19, 11231101: 11231101
35 LDLR NM_000527.4(LDLR): c.2043C> A (p.Cys681Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908031 GRCh38 Chromosome 19, 11120425: 11120425
36 LDLR FH Paris 1 deletion Pathogenic GRCh37 Chromosome 19, 11217145: 11217917
37 LDLR FH Paris 1 deletion Pathogenic GRCh38 Chromosome 19, 11106469: 11107241
38 LDLR FH Cape Town 2 deletion Pathogenic/Likely pathogenic GRCh38 Chromosome 19, 11107515: 11113277
39 LDLR FH Cape Town 2 deletion Pathogenic/Likely pathogenic GRCh37 Chromosome 19, 11218191: 11223953
40 LDLR NM_000527.4(LDLR): c.2054C> T (p.Pro685Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28942084 GRCh37 Chromosome 19, 11231112: 11231112
41 LDLR NM_000527.4(LDLR): c.2054C> T (p.Pro685Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28942084 GRCh38 Chromosome 19, 11120436: 11120436
42 LDLR NM_000527.4(LDLR): c.2439G> A (p.Trp813Ter) single nucleotide variant Pathogenic rs121908032 GRCh37 Chromosome 19, 11240238: 11240238
43 LDLR NM_000527.4(LDLR): c.2439G> A (p.Trp813Ter) single nucleotide variant Pathogenic rs121908032 GRCh38 Chromosome 19, 11129562: 11129562
44 LDLR NM_000527.4(LDLR): c.2483A> G (p.Tyr828Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942085 GRCh37 Chromosome 19, 11240282: 11240282
45 LDLR NM_000527.4(LDLR): c.2483A> G (p.Tyr828Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942085 GRCh38 Chromosome 19, 11129606: 11129606
46 LDLR NM_000527.4(LDLR): c.2447_2450dupAGAA (p.Asn817Lysfs) duplication Pathogenic rs387906302 GRCh37 Chromosome 19, 11240246: 11240249
47 LDLR NM_000527.4(LDLR): c.2447_2450dupAGAA (p.Asn817Lysfs) duplication Pathogenic rs387906302 GRCh38 Chromosome 19, 11129570: 11129573
48 LDLR NM_000527.4(LDLR): c.670G> A (p.Asp224Asn) single nucleotide variant Pathogenic/Likely pathogenic rs387906303 GRCh37 Chromosome 19, 11216252: 11216252
49 LDLR NM_000527.4(LDLR): c.670G> A (p.Asp224Asn) single nucleotide variant Pathogenic/Likely pathogenic rs387906303 GRCh38 Chromosome 19, 11105576: 11105576
50 LDLR LDLR, EX2-8DUP duplication 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:

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 11.56 APOA1 APOA2 LPL
10 11.53 HMGCR LDLR 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 18)
# 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 9.84 APOA1 APOA2 APOE ITIH4
4 clathrin-coated endocytic vesicle membrane GO:0030669 9.69 APOB APOE LDLR
5 endocytic vesicle lumen GO:0071682 9.63 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 9.1 APOA1 APOA2 APOE CETP LCAT LIPC
15 extracellular region GO:0005576 10.21 APOA1 APOA2 APOB APOE CETP GHR
16 extracellular exosome GO:0070062 10.18 APOA1 APOA2 APOB APOE CETP EPHX2
17 extracellular space GO:0005615 10.18 APOA1 APOA2 APOB APOE CETP GHR
18 cell surface GO:0009986 10.02 ABCA1 APOA1 GHR LDLR LPL PCSK9

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

(show top 50) (show all 67)
# Name GO ID Score Top Affiliating Genes
1 triglyceride homeostasis GO:0070328 9.97 APOA1 APOE CETP LIPC LPL
2 triglyceride catabolic process GO:0019433 9.97 APOA1 APOB APOE LIPC LPL
3 high-density lipoprotein particle remodeling GO:0034375 9.97 APOA1 APOA2 APOE CETP LCAT LIPC
4 regulation of lipid metabolic process GO:0019216 9.96 ABCA1 APOA1 APOA2 HMGCR
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 low-density lipoprotein particle remodeling GO:0034374 9.95 APOA2 APOB APOE CETP LIPC LPA
9 retinoid metabolic process GO:0001523 9.94 APOA1 APOA2 APOB APOE
10 chylomicron assembly GO:0034378 9.93 APOA1 APOA2 APOB APOE MTTP
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 membrane organization GO:0061024 9.91 APOB LDLR LDLRAP1
14 lipid catabolic process GO:0016042 9.91 APOB LIPC LPL
15 high-density lipoprotein particle assembly GO:0034380 9.91 ABCA1 APOA1 APOA2 APOE
16 lipoprotein biosynthetic process GO:0042158 9.91 ABCA1 APOA1 APOB APOE LCAT
17 very-low-density lipoprotein particle remodeling GO:0034372 9.91 APOA1 APOE CETP LCAT LIPC LPL
18 response to nutrient GO:0007584 9.9 ABCA1 APOA1 HMGCR
19 phospholipid efflux GO:0033700 9.9 ABCA1 APOA1 APOA2 APOE
20 high-density lipoprotein particle clearance GO:0034384 9.89 APOA1 APOA2 APOE LDLR
21 chylomicron remnant clearance GO:0034382 9.88 APOB APOE LDLR LIPC
22 cholesterol biosynthetic process GO:0006695 9.86 APOA1 APOE HMGCR
23 phosphatidylcholine biosynthetic process GO:0006656 9.85 APOA1 APOA2 LCAT
24 regulation of cholesterol metabolic process GO:0090181 9.82 APOE EPHX2 LDLR
25 phospholipid homeostasis GO:0055091 9.81 ABCA1 APOA1 CETP
26 positive regulation of cholesterol esterification GO:0010873 9.81 APOA1 APOA2 APOE
27 cholesterol transport GO:0030301 9.81 ABCA1 APOA1 APOA2 APOB CETP LCAT
28 regulation of Cdc42 protein signal transduction GO:0032489 9.8 ABCA1 APOA1 APOE
29 lipoprotein catabolic process GO:0042159 9.79 APOB APOE LDLR
30 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.74 ABCA1 LDLR
31 positive regulation of lipid biosynthetic process GO:0046889 9.73 APOA1 APOE
32 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.73 APOB LPL
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 phosphatidylcholine metabolic process GO:0046470 9.73 CETP LCAT
36 regulation of protein metabolic process GO:0051246 9.72 APOE LDLR
37 amyloid precursor protein metabolic process GO:0042982 9.72 APOE LDLRAP1
38 protein lipidation GO:0006497 9.72 ABCA1 MTTP
39 very-low-density lipoprotein particle assembly GO:0034379 9.72 APOB MTTP
40 regulation of lipoprotein lipase activity GO:0051004 9.71 LIPC LPL
41 positive regulation of cholesterol storage GO:0010886 9.71 APOB LPL
42 regulation of cholesterol transport GO:0032374 9.71 APOA1 APOE
43 cholesterol import GO:0070508 9.71 APOA1 LDLR
44 negative regulation of cytokine secretion involved in immune response GO:0002740 9.71 APOA1 APOA2
45 peptidyl-methionine modification GO:0018206 9.7 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 9.97 APOA1 APOA2 APOB APOE CETP MTTP
2 heparin binding GO:0008201 9.91 APOB APOE LIPC LPA LPL
3 phospholipid binding GO:0005543 9.85 ABCA1 APOA1 APOA2 APOB APOE
4 amyloid-beta binding GO:0001540 9.83 APOA1 APOE LDLR LDLRAP1
5 low-density lipoprotein particle binding GO:0030169 9.71 LDLR LIPC PCSK9
6 low-density lipoprotein particle receptor binding GO:0050750 9.71 APOB APOE LDLRAP1 PCSK9
7 phospholipid transporter activity GO:0005548 9.67 ABCA1 APOA1 CETP MTTP
8 high-density lipoprotein particle binding GO:0008035 9.65 ABCA1 APOA1 APOA2
9 cholesterol binding GO:0015485 9.65 ABCA1 APOA1 APOA2 APOE CETP
10 cholesterol transporter activity GO:0017127 9.63 ABCA1 APOA1 APOA2 APOB APOE CETP
11 triglyceride lipase activity GO:0004806 9.61 LIPC LPL
12 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.61 APOA1 APOA2 APOE
13 phospholipase activity GO:0004620 9.6 LIPC LPL
14 lipase inhibitor activity GO:0055102 9.59 APOA1 APOA2
15 lipoprotein particle binding GO:0071813 9.58 APOA1 APOE
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 9.5 APOA1 APOA2 PCSK9
21 apolipoprotein binding GO:0034185 9.43 ABCA1 LIPC LPA LPL MTTP PCSK9
22 lipid transporter activity GO:0005319 9.17 ABCA1 APOA1 APOA2 APOB APOE CETP
23 protein binding GO:0005515 10.51 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
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35 ICD9CM
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40 LOVD
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44 MeSH
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
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