MCID: HMZ003
MIFTS: 54

Homozygous Familial Hypercholesterolemia

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

Aliases & Classifications for Homozygous Familial Hypercholesterolemia

MalaCards integrated aliases for Homozygous Familial Hypercholesterolemia:

Name: Homozygous Familial Hypercholesterolemia 59
Hofh 59

Characteristics:

Orphanet epidemiological data:

59
homozygous familial hypercholesterolemia
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide);

Classifications:



Summaries for Homozygous Familial Hypercholesterolemia

MalaCards based summary : Homozygous Familial Hypercholesterolemia, also known as hofh, is related to arteries, anomalies of and abetalipoproteinemia. An important gene associated with Homozygous Familial Hypercholesterolemia is LDLR (Low Density Lipoprotein Receptor), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and bone marrow, and related phenotypes are hyperlipidemia and hypercholesterolemia

Related Diseases for Homozygous Familial Hypercholesterolemia

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

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 arteries, anomalies of 30.3 APOB APOE LDLR
2 abetalipoproteinemia 29.4 APOB APOE LPL
3 aortic atherosclerosis 28.3 ABCG5 ABCG8 APOE LDLR
4 heart disease 28.2 APOB APOE HMGCR LDLR LPL
5 coronary artery anomaly 28.1 APOB APOE HMGCR LDLR LIPC LPL
6 hypercholesterolemia, familial 24.2 ABCG5 ABCG8 APOB APOE HMGCR LDLR
7 xanthoma disseminatum 10.6 APOB APOE
8 leukodystrophy, hypomyelinating, 3 10.4 APOB APOE
9 schnyder corneal dystrophy 10.3 APOB APOE
10 hypercholesterolemia, autosomal dominant, type b 10.3 APOB APOE LDLR
11 lipoprotein glomerulopathy 10.3 APOB APOE LDLR
12 hypobetalipoproteinemia, familial, 1 10.3 APOB APOE LDLR
13 hypercholesterolemia, autosomal recessive 10.3 LDLR LDLRAP1 PCSK9
14 coronary stenosis 10.3 APOB APOE PCSK9
15 cholesterol ester storage disease 10.2 APOB LDLRAP1
16 smith-lemli-opitz syndrome 10.2 APOE HMGCR LDLR
17 atherosclerosis susceptibility 10.2 APOB APOE LDLR
18 lipase deficiency, combined 10.2 LIPC LPL
19 cerebrovascular disease 10.1 APOB APOE LDLR
20 hyperlipoproteinemia, type v 10.1 APOE LPL
21 familial lipoprotein lipase deficiency 10.1 LIPC LPL
22 supravalvular aortic stenosis 10.1
23 arteriosclerosis 10.0 APOB APOE HMGCR
24 recurrent acute pancreatitis 10.0 APOE LPL
25 hyperlipidemia, combined, 1 9.9 APOB LIPC LPL
26 defective apolipoprotein b-100 9.9 APOB APOE HMGCR LDLR
27 hyperlipidemia, familial combined 9.9 APOB APOE LPL
28 hepatic lipase deficiency 9.9 APOE LIPC LPL
29 ischemic heart disease 9.9 APOB APOE LPL
30 hypolipoproteinemia 9.9 APOB APOE LPL
31 macular degeneration, age-related, 1 9.9 APOB APOE LIPC
32 tangier disease 9.8 APOB APOE LPL
33 cerebral atherosclerosis 9.8
34 atrial heart septal defect 9.8
35 lipomatosis 9.8
36 ischemia 9.8
37 cerebritis 9.8
38 endotheliitis 9.8
39 focal segmental glomerulosclerosis 1 9.8
40 focal segmental glomerulosclerosis 9.8
41 hepatitis 9.8
42 stroke, ischemic 9.7 APOB APOE HMGCR
43 hemorrhage, intracerebral 9.7 APOE HMGCR
44 gallbladder disease 4 9.7 ABCG5 ABCG8
45 hypoalphalipoproteinemia, primary 9.7 APOB LDLR LIPC LPL
46 hypertriglyceridemia, familial 9.7 APOB LDLR LIPC LPL
47 lecithin:cholesterol acyltransferase deficiency 9.6 APOB APOE LDLR LPL
48 hyperlipoproteinemia, type iv 9.6 APOB APOE LIPC LPL
49 arcus corneae 9.6 APOB APOE LDLR LDLRAP1 PCSK9
50 cholelithiasis 9.3 ABCG5 ABCG8 APOE

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



Diseases related to Homozygous Familial Hypercholesterolemia

Symptoms & Phenotypes for Homozygous Familial Hypercholesterolemia

Human phenotypes related to Homozygous Familial Hypercholesterolemia:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperlipidemia 59 32 obligate (100%) Obligate (100%) HP:0003077
2 hypercholesterolemia 59 32 obligate (100%) Obligate (100%) HP:0003124
3 precocious atherosclerosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004416
4 premature arteriosclerosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005177
5 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
6 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0001397
7 sudden cardiac death 59 32 frequent (33%) Frequent (79-30%) HP:0001645
8 myocardial infarction 59 32 frequent (33%) Frequent (79-30%) HP:0001658
9 angina pectoris 59 32 frequent (33%) Frequent (79-30%) HP:0001681
10 renal artery stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0001920
11 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
12 peripheral arterial stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0004950
13 left ventricular failure 59 32 frequent (33%) Frequent (79-30%) HP:0005162
14 myocardial steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0006693
15 cerebral artery atherosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0007201
16 aortic atherosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0012397
17 heart murmur 59 32 frequent (33%) Frequent (79-30%) HP:0030148
18 renal steatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000799
19 mitral regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001653
20 arthralgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002829
21 supravalvular aortic stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004381
22 calcification of the aorta 59 32 occasional (7.5%) Occasional (29-5%) HP:0004963
23 tendon xanthomatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0010874
24 optic neuropathy 59 32 very rare (1%) Very rare (<4-1%) HP:0001138
25 abnormal eye physiology 59 32 very rare (1%) Very rare (<4-1%) HP:0012373
26 abnormality of nervous system physiology 59 32 very rare (1%) Very rare (<4-1%) HP:0012638
27 hyperbetalipoproteinemia 59 Obligate (100%)
28 coronary atherosclerosis 59 Frequent (79-30%)
29 premature coronary artery disease 59 Frequent (79-30%)
30 abnormal tendon morphology 59 Frequent (79-30%)
31 abnormality of internal carotid artery 59 Frequent (79-30%)
32 xanthomatosis 59 Occasional (29-5%)
33 coronary artery dilation 59 Very rare (<4-1%)
34 increased ldl cholesterol concentration 32 obligate (100%) HP:0003141
35 premature coronary artery atherosclerosis 32 frequent (33%) HP:0005181
36 coronary artery aneurysm 32 very rare (1%) HP:0030882
37 abnormal internal carotid artery morphology 32 frequent (33%) HP:3000062

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.81 HMGCR LDLR LDLRAP1 LIPC LPL PCSK9
2 Increased LDL uptake GR00340-A-1 9.13 APOE LDLR LPL
3 Reduced mammosphere formation GR00396-S 9.02 ABCG8 HMGCR LDLR LIPC SREBF2

MGI Mouse Phenotypes related to Homozygous Familial Hypercholesterolemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 ABCG5 ABCG8 APOB APOE HMGCR LDLR
2 liver/biliary system MP:0005370 9.32 LPL PCSK9 SOAT1 SREBF2 ABCG5 ABCG8

Drugs & Therapeutics for Homozygous Familial Hypercholesterolemia

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

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4,Phase 2,Phase 3
2 Immunoglobulins Phase 4,Phase 2,Phase 3
3 Antibodies, Monoclonal Phase 4,Phase 2,Phase 3
4
Ezetimibe Approved Phase 3 163222-33-1 150311
5
Mipomersen Approved, Investigational Phase 3,Phase 2 1000120-98-8
6
Torcetrapib Investigational Phase 3 262352-17-0 159325
7
Anacetrapib Investigational Phase 3 875446-37-0
8 Atorvastatin Calcium Phase 3 134523-03-8
9 Rosuvastatin Calcium Phase 3 147098-20-2
10 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3,Phase 2
11 Hypolipidemic Agents Phase 3,Phase 2
12 Anticholesteremic Agents Phase 3,Phase 2
13 Lipid Regulating Agents Phase 3,Phase 2
14 Antimetabolites Phase 3,Phase 2
15 Calcium, Dietary Phase 3
16 Oxazolidinones Phase 3
17 Anti-Infective Agents Phase 3
18
Cobalt Phase 2 7440-48-4 104729
19 Micronutrients Phase 2
20 Trace Elements Phase 2
21 Pharmaceutical Solutions Phase 1, Phase 2,Phase 2
22 Liver Extracts Phase 1
23
Simvastatin Approved 79902-63-9 54454
24
Heparin Approved, Investigational 9005-49-6 772 46507594
25
Coal tar Approved Not Applicable 8007-45-2
26 calcium heparin
27 Fibrinolytic Agents
28 Dextrans
29 Plasma Substitutes
30 Anticoagulants
31 Ezetimibe, Simvastatin Drug Combination
32 Blood Substitutes
33 Dermatologic Agents Not Applicable
34 Keratolytic Agents Not Applicable

Interventional clinical trials:

(show all 46)
# Name Status NCT ID Phase Drugs
1 Safety and Tolerability of Repatha in Indian Subjects With Homozygous Familial Hypercholesterolemia Not yet recruiting NCT03403374 Phase 4 Repatha® (evolocumab)
2 Efficacy and Safety of Lomitapide in Japanese Patients With HoFH on Concurrent Lipid-Lowering Therapy Unknown status NCT02173158 Phase 3 lomitapide
3 A Study to Evaluate the Safety of Rosuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia Completed NCT02434497 Phase 3 Rosuvastatin 20mg
4 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
5 Trial Evaluating PCSK9 Antibody in Subjects With LDL Receptor Abnormalities Completed NCT01588496 Phase 2, Phase 3 Placebo
6 A Safety and Efficacy Study of AEGR-733 to Treat Homozygous Familial Hypercholesterolemia (FH) Completed NCT00730236 Phase 3 AEGR-733
7 Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia Completed NCT00607373 Phase 3 mipomersen;Placebo
8 Long Term, Follow-on Study of Lomitapide in Patients With Homozygous Familial Hypercholesterolemia Completed NCT00943306 Phase 3 lomitapide
9 Study To Evaluate The Effect Of Torcetrapib/Atorvastatin In Patients With Genetic High Cholesterol Disorder Completed NCT00134511 Phase 3 Torcetrapib/atorvastatin
10 Trial Assessing Long Term USe of PCSK9 Inhibition in Subjects With Genetic LDL Disorders Completed NCT01624142 Phase 2, Phase 3
11 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
12 Efficacy and Safety of Evinacumab in Patients With Homozygous Familial Hypercholesterolemia Recruiting NCT03399786 Phase 3 evinacumab;Placebo
13 Study in Participants With Homozygous Familial Hypercholesterolemia (HoFH) Recruiting NCT03156621 Phase 3 Alirocumab;Placebo
14 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
15 Evaluate the Long-Term Safety and Efficacy of Evinacumab in Patients With Homozygous Familial Hypercholesterolemia Enrolling by invitation NCT03409744 Phase 3 evinacumab
16 An Efficacy and Safety Study of Alirocumab in Children and Adolescents With Homozygous Familial Hypercholesterolemia Not yet recruiting NCT03510715 Phase 3 Alirocumab SAR236553 (REGN727);Rosuvastatin;Ezetimibe;Cholestyramine;Nicotinic acid;Fenofibrate;Omega-3 fatty acids;Atorvastatin;Simvastatin;Fluvastatin;Pravastatin;Lovastatin
17 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
18 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
19 Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED) Terminated NCT00092833 Phase 3 Comparator: ezetimibe
20 Evaluate the Efficacy and Safety of Lomitapide in Pediatric Patients With Homozygous Familial Hypercholesterolemia on Stable Lipid-lowering Therapy Withdrawn NCT02765841 Phase 3 Lomitapide
21 Effect of CER-001 on Plaque Volume in Homozygous Familial Hypercholesterolemia (HoFH) Subjects Completed NCT01412034 Phase 2 CER-001
22 Dose-escalating Safety Study of ISIS 301012 in Homozygous Familial Hypercholesterolemia Subjects on Lipid Lowering Therapy Completed NCT00280995 Phase 2 ISIS 301012;ISIS 301012;ISIS 301012;ISIS 301012
23 Study to Evaluate the Effects of MBX-8025 in Patients With HoFH Completed NCT02472535 Phase 2 MBX-8025 50 mg (Dose Escalation Period 1);MBX-8025 50 mg or 100 mg (Dose Escalation Period 2);MBX-8025 50 mg, 100 mg or 200 mg (Dose Escalation Period 3)
24 Efficacy and Safety of Gemcabene in Patients With Homozygous Familial Hypercholesterolemia on Stable, Lipid-Lowering Therapy (COBALT-1) Completed NCT02722408 Phase 2 Gemcabene 300 mg;Gemcabene 600 mg;Gemcabene 900 mg
25 Safety, Tolerability and Efficacy of Microsomal Triglyceride Protein (MTP) Inhibitor Completed NCT01556906 Phase 2 Lomitapide
26 Safety Study of AEM-28 to Treat Refractory Hypercholesterolemia Completed NCT02100839 Phase 1, Phase 2 AEM-28;Normal Saline
27 Open Label Extension of ISIS 301012 (Mipomersen) to Treat Familial Hypercholesterolemia Completed NCT00477594 Phase 2 mipomersen sodium
28 Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With Homozygous Familial Hypercholesterolemia (HoFH) Recruiting NCT03455777 Phase 2 AKCEA-ANGPTL3-LRX
29 A Gene Therapy Study for Homozygous Familial Hypercholesterolemia (HoFH) Recruiting NCT02651675 Phase 1, Phase 2
30 A Study of ALN-PCSSC in Participants With Homozygous Familial Hypercholesterolemia (HoFH) Active, not recruiting NCT02963311 Phase 2 ALN-PCSSC;Standard of Care
31 Study of REGN1500 in Patients With Homozygous Familial Hypercholesterolemia (HoFH) Active, not recruiting NCT02265952 Phase 2 REGN1500
32 Implitapide in Patients With Homozygous Familial Hypercholesterolemia (HoFH) on Maximal Concurrent Lipid-Lowering Therapy Terminated NCT00079846 Phase 2 Implitapide
33 Bone Marrow Stem Cells as a Source of Allogenic Hepatocyte Transplantation in Homozygous Familial Hypercholesterolemia Completed NCT00515307 Phase 1
34 Phase I Study of Ex Vivo Liver-Directed Gene Therapy for Familial Hypercholesterolemia Completed NCT00004809 Phase 1
35 Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia Completed NCT01878604
36 Comparisons of Two Low-density Lipoprotein Apheresis Systems in Patients With Homozygous Familial Hypercholesterolemia Completed NCT02286596
37 Cardiovascular Evaluation of Patients With High Cholesterol and Normal Volunteers Completed NCT00001204
38 Vytorin Reexamination Study (0653A-174) Completed NCT01070966
39 Evaluation of the Safety, Tolerability and Efficacy of Ezetimibe on a Select Population of Filipinos With Hypercholesterolemia (Study P04748)(COMPLETED) Completed NCT00704535 Ezetimibe
40 Biomarker for Homozygous Familial Hypercholesterolemia Recruiting NCT03198897
41 The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository Recruiting NCT01109368
42 HDL Acute Lipid Optimization in Homozygous Familial Hypercholesterolemia Recruiting NCT03135184 Not Applicable
43 Screening Protocol for a Gene Therapy Trial in Subjects With Homozygous Familial Hypercholesterolemia Recruiting NCT03018678
44 LOWER: Lomitapide Observational Worldwide Evaluation Registry Enrolling by invitation NCT02135705 Lomitapide
45 Study of cardiovAscular Contrasted Phenotypes in Patients With FamIliaI hypercholesteRolemia Not yet recruiting NCT03234127 Not Applicable
46 Effects of Lomitapide on Carotid and Aortic Atherosclerosis Withdrawn NCT02399852 Lomitapide

Search NIH Clinical Center for Homozygous Familial Hypercholesterolemia

Genetic Tests for Homozygous Familial Hypercholesterolemia

Anatomical Context for Homozygous Familial Hypercholesterolemia

MalaCards organs/tissues related to Homozygous Familial Hypercholesterolemia:

41
Liver, Heart, Bone Marrow, Bone, Eye, Endothelial, Brain

Publications for Homozygous Familial Hypercholesterolemia

Articles related to Homozygous Familial Hypercholesterolemia:

(show top 50) (show all 169)
# Title Authors Year
1
Lomitapide in homozygous familial hypercholesterolemia: cardiology perspective from a single-center experience. ( 29389816 )
2018
2
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
3
Multimodal lipid-lowering treatment in pediatric patients with homozygous familial hypercholesterolemia-target attainment requires further increase of intensity. ( 29502162 )
2018
4
Screening of LDLR and APOB gene mutations inA Mexican patients with homozygous familial hypercholesterolemia. ( 29576406 )
2018
5
A nation-wide survey of patients with homozygous familial hypercholesterolemia phenotype undergoing LDL-apheresis in Turkey (A-HIT 1 registry). ( 29407887 )
2018
6
Fibroblast growth factor-23 in patients with homozygous familial hypercholesterolemia. ( 29550495 )
2018
7
High serum triglyceride concentrations in patients with homozygous familial hypercholesterolemia attenuate the efficacy of lipoprotein apheresis by dextran sulfate adsorption. ( 29407885 )
2018
8
Case report-Rapid regression of xanthomas under lipoprotein apheresis in a boy with homozygous familial hypercholesterolemia. ( 29866529 )
2018
9
Dietary Intake during 56 Weeks of a Low-Fat Diet for Lomitapide Treatment in Japanese Patients with Homozygous Familial Hypercholesterolemia. ( 29899183 )
2018
10
ANGPTL3 Inhibition in Homozygous Familial Hypercholesterolemia. ( 28723334 )
2017
11
Efficacy of Rosuvastatin in ChildrenA WithA Homozygous Familial Hypercholesterolemia and Association With Underlying Genetic Mutations. ( 28838366 )
2017
12
Rapidly progressive atherosclerosis after domino liver transplantation from a teenage donor with homozygous familial hypercholesterolemia. ( 28807459 )
2017
13
Alirocumab efficacy in patients with double heterozygous, compound heterozygous, or homozygous familial hypercholesterolemia. ( 29396260 )
2017
14
A First-in-Class Drug, Lomitapide, Tailored to Patients with Homozygous Familial Hypercholesterolemia is Just about Meeting with Good News to Them. ( 28239069 )
2017
15
Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia. ( 28761763 )
2017
16
Managing the challenging homozygous familial hypercholesterolemia patient: Academic insights and practical approaches for a severe dyslipidemia, a National Lipid Association Masters Summit. ( 28506384 )
2017
17
Long-Term Efficacy and Safety of the Microsomal Triglyceride Transfer Protein Inhibitor Lomitapide in Patients With Homozygous Familial Hypercholesterolemia. ( 28716835 )
2017
18
Is lomitapide a life-saving drug in homozygous familial hypercholesterolemia. ( 28952803 )
2017
19
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
20
Managing Patients With Homozygous Familial Hypercholesterolemia. ( 28838367 )
2017
21
Homozygous familial hypercholesterolemia: Summarized case reports. ( 28126585 )
2017
22
Nonclinical Pharmacology/Toxicology Study of AAV8.TBG.mLDLR and AAV8.TBG.hLDLR in a Mouse Model of Homozygous Familial Hypercholesterolemia. ( 28319445 )
2017
23
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
24
Balancing Low-density Lipoprotein Cholesterol Reduction and Hepatotoxicity With Lomitapide Mesylate and Mipomersen in Patients With Homozygous Familial Hypercholesterolemia. ( 28509890 )
2017
25
The effect of lomitapide on cardiovascular outcome measures in homozygous familial hypercholesterolemia: A modelling analysis. ( 28925748 )
2017
26
Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-old Girl. ( 29072176 )
2017
27
Efficacy and Safety of Lomitapide in Japanese Patients with Homozygous Familial Hypercholesterolemia. ( 28154305 )
2017
28
Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor): Implications for the Efficacy of Evolocumab. ( 29284604 )
2017
29
Homozygous Familial Hypercholesterolemia: Anesthetic Challenges and Review of Literature. ( 28952401 )
2017
30
Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients: Insights from SAFEHEART registry. ( 27578128 )
2016
31
Extremely severe aortic stenosis developed in a young female patient with underdiagnosis of homozygous familial hypercholesterolemia: An 8-year follow-up. ( 26820372 )
2016
32
Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations. ( 27816806 )
2016
33
Progressive Aortic Stenosis in Homozygous Familial Hypercholesterolemia After Liver Transplant. ( 27940769 )
2016
34
Lomitapide for use in patients with homozygous familial hypercholesterolemia: a narrative review. ( 26943823 )
2016
35
Characterization of the unique Chinese W483XA mutation in the low-density lipoprotein-receptor gene in young patients with homozygous familial hypercholesterolemia. ( 27206941 )
2016
36
The complexities of homozygous familial hypercholesterolemia management. ( 27882690 )
2016
37
Effects of Liver Transplantation on Lipids and Cardiovascular Disease in Children With Homozygous Familial Hypercholesterolemia. ( 27365335 )
2016
38
Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship. ( 27784735 )
2016
39
Targeting microsomal triglyceride transfer protein and lipoprotein assembly to treat homozygous familial hypercholesterolemia. ( 27690713 )
2016
40
Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia. ( 27182539 )
2016
41
Recent Developments in Gene Therapy for Homozygous Familial Hypercholesterolemia. ( 26980316 )
2016
42
Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations. ( 27578127 )
2016
43
Homozygous familial hypercholesterolemia in childhood: Genotype-phenotype description, established therapies and perspectives. ( 26894473 )
2016
44
Unsuccessful Redo MitraClip Procedure Leads to Acute Right Ventricular Failure in a Patient With Homozygous Familial Hypercholesterolemia and a Preexisting Atrial Septal Defect. ( 27669032 )
2016
45
Lipoprotein apheresis is essential for managing pregnancies in patients with homozygous familial hypercholesterolemia: Seven case series and discussion. ( 27755983 )
2016
46
Percutaneous Implantation of the self-expanding valve Prosthesis a patient with homozygous familial hypercholesterolemia severe aortic stenosis and porcelain aorta. ( 27393846 )
2016
47
Homozygous familial hypercholesterolemia: phenotype rules! ( 26997470 )
2016
48
LOWER, a registry of lomitapide-treated patients with homozygous familial hypercholesterolemia: Rationale and design. ( 27055957 )
2016
49
MTP Gene Variants and Response to Lomitapide in Patients with Homozygous Familial Hypercholesterolemia. ( 27170061 )
2016
50
Phenotype diversity among patients with homozygous familial hypercholesterolemia: A cohort study. ( 27017151 )
2016

Variations for Homozygous Familial Hypercholesterolemia

Expression for Homozygous Familial Hypercholesterolemia

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

Pathways for Homozygous Familial Hypercholesterolemia

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 ABCG5 ABCG8 APOB APOE HMGCR LDLR
2
Show member pathways
12.42 APOB APOE LDLR LPL
3
Show member pathways
12.28 ABCG5 ABCG8 LPL SREBF2
4
Show member pathways
12.1 APOB LDLR LDLRAP1
5
Show member pathways
12.09 APOB APOE LDLR LPL
6
Show member pathways
12.04 APOB APOE LDLR
7
Show member pathways
11.86 ABCG5 ABCG8 APOB APOE LDLR LDLRAP1
8
Show member pathways
11.77 ABCG5 ABCG8 APOB APOE HMGCR LDLR
9 11.49 HMGCR LDLR LPL SREBF2
10 11.41 ABCG5 ABCG8 HMGCR LDLR
11
Show member pathways
11.25 ABCG5 ABCG8 APOB
12 11.22 ABCG5 ABCG8 LPL
13 11.03 APOE LDLR
14 10.82 HMGCR LDLR SREBF2
15
Show member pathways
10.26 LDLR PCSK9

GO Terms for Homozygous Familial Hypercholesterolemia

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.97 APOB APOE HMGCR PCSK9 SOAT1 SREBF2
2 endoplasmic reticulum lumen GO:0005788 9.76 APOB APOE LIPC PCSK9
3 receptor complex GO:0043235 9.71 ABCG5 ABCG8 LDLR
4 early endosome GO:0005769 9.55 APOB APOE LDLR LDLRAP1 PCSK9
5 clathrin-coated endocytic vesicle membrane GO:0030669 9.54 APOB APOE LDLR
6 high-density lipoprotein particle GO:0034364 9.52 APOE LIPC
7 endocytic vesicle lumen GO:0071682 9.51 APOB APOE
8 endolysosome membrane GO:0036020 9.48 LDLR PCSK9
9 ATP-binding cassette (ABC) transporter complex GO:0043190 9.43 ABCG5 ABCG8
10 very-low-density lipoprotein particle GO:0034361 9.43 APOB APOE LPL
11 intermediate-density lipoprotein particle GO:0034363 9.4 APOB APOE
12 PCSK9-LDLR complex GO:1990666 9.32 LDLR PCSK9
13 low-density lipoprotein particle GO:0034362 9.13 APOB APOE LDLR
14 chylomicron GO:0042627 8.8 APOB APOE LPL
15 extracellular space GO:0005615 10.02 APOB APOE LDLR LIPC LPL PCSK9

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

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.96 APOB APOE HMGCR LDLR LDLRAP1 LIPC
2 receptor-mediated endocytosis GO:0006898 9.93 APOB APOE LDLR LDLRAP1
3 lipid transport GO:0006869 9.91 ABCG5 ABCG8 APOB APOE LDLR
4 cellular protein metabolic process GO:0044267 9.87 APOB APOE PCSK9
5 membrane organization GO:0061024 9.86 APOB LDLR LDLRAP1
6 lipid catabolic process GO:0016042 9.85 APOB LIPC LPL
7 response to nutrient GO:0007584 9.82 ABCG5 ABCG8 HMGCR
8 retinoid metabolic process GO:0001523 9.81 APOB APOE LPL
9 cholesterol transport GO:0030301 9.8 ABCG8 APOB LDLR LDLRAP1 LIPC
10 triglyceride metabolic process GO:0006641 9.79 APOE LPL PCSK9
11 regulation of cholesterol biosynthetic process GO:0045540 9.79 APOB HMGCR SREBF2
12 triglyceride catabolic process GO:0019433 9.78 APOB APOE LIPC LPL
13 cholesterol efflux GO:0033344 9.77 ABCG5 ABCG8 APOB APOE SOAT1
14 lipoprotein metabolic process GO:0042157 9.76 APOB APOE LDLR PCSK9
15 steroid metabolic process GO:0008202 9.76 APOB APOE HMGCR LDLR LDLRAP1 PCSK9
16 triglyceride homeostasis GO:0070328 9.75 APOE LIPC LPL
17 low-density lipoprotein particle remodeling GO:0034374 9.74 APOB APOE LIPC
18 very-low-density lipoprotein particle remodeling GO:0034372 9.73 APOE LIPC LPL
19 chylomicron remnant clearance GO:0034382 9.73 APOB APOE LDLR LIPC
20 chylomicron remodeling GO:0034371 9.72 APOB APOE LPL
21 low-density lipoprotein particle clearance GO:0034383 9.72 APOB LDLR LDLRAP1 PCSK9 SOAT1
22 cholesterol biosynthetic process GO:0006695 9.71 APOE HMGCR
23 intestinal cholesterol absorption GO:0030299 9.71 ABCG5 ABCG8 LDLR
24 negative regulation of MAP kinase activity GO:0043407 9.7 APOE HMGCR
25 excretion GO:0007588 9.7 ABCG5 ABCG8
26 long-term memory GO:0007616 9.7 APOE LDLR
27 positive regulation of cholesterol storage GO:0010886 9.7 APOB LPL SREBF2
28 cholesterol homeostasis GO:0042632 9.7 ABCG5 ABCG8 APOB APOE LDLR LDLRAP1
29 positive regulation of endocytosis GO:0045807 9.69 APOE LDLR
30 artery morphogenesis GO:0048844 9.69 APOB APOE
31 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.69 LDLR SREBF2
32 reverse cholesterol transport GO:0043691 9.68 APOE LIPC
33 high-density lipoprotein particle remodeling GO:0034375 9.68 APOE LIPC
34 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.68 APOB LPL
35 regulation of protein metabolic process GO:0051246 9.67 APOE LDLR
36 regulation of cholesterol metabolic process GO:0090181 9.67 APOE LDLR
37 lipoprotein catabolic process GO:0042159 9.67 APOB APOE LDLR
38 amyloid precursor protein metabolic process GO:0042982 9.66 APOE LDLRAP1
39 chylomicron assembly GO:0034378 9.66 APOB APOE
40 very-low-density lipoprotein particle assembly GO:0034379 9.65 APOB SOAT1
41 regulation of lipoprotein lipase activity GO:0051004 9.65 LIPC LPL
42 lipoprotein biosynthetic process GO:0042158 9.64 APOB APOE
43 very-low-density lipoprotein particle clearance GO:0034447 9.64 APOB APOE
44 receptor-mediated endocytosis involved in cholesterol transport GO:0090118 9.62 LDLR LDLRAP1
45 negative regulation of intestinal phytosterol absorption GO:0010949 9.61 ABCG5 ABCG8
46 negative regulation of intestinal cholesterol absorption GO:0045796 9.6 ABCG5 ABCG8
47 positive regulation of low-density lipoprotein particle receptor catabolic process GO:0032805 9.59 APOE PCSK9
48 response to caloric restriction GO:0061771 9.58 APOE LDLR
49 cholesterol metabolic process GO:0008203 9.28 APOB APOE HMGCR LDLR LDLRAP1 LIPC

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.62 APOB APOE LIPC LPL
2 amyloid-beta binding GO:0001540 9.58 APOE LDLR LDLRAP1
3 triglyceride lipase activity GO:0004806 9.49 LIPC LPL
4 lipid transporter activity GO:0005319 9.48 APOB APOE
5 phospholipase activity GO:0004620 9.46 LIPC LPL
6 low-density lipoprotein particle binding GO:0030169 9.43 LDLR LIPC PCSK9
7 very-low-density lipoprotein particle receptor binding GO:0070326 9.37 APOE PCSK9
8 apolipoprotein binding GO:0034185 9.33 LIPC LPL PCSK9
9 low-density lipoprotein particle receptor binding GO:0050750 9.26 APOB APOE LDLRAP1 PCSK9
10 cholesterol transporter activity GO:0017127 8.92 ABCG5 ABCG8 APOB APOE
11 protein binding GO:0005515 10.21 ABCG5 ABCG8 APOB APOE HMGCR LDLR

Sources for Homozygous Familial Hypercholesterolemia

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
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