HOFH
MCID: HMZ003
MIFTS: 55

Homozygous Familial Hypercholesterolemia (HOFH)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare 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 Clathrin-mediated endocytosis. The drugs Antibodies, Monoclonal and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and bone, and related phenotypes are hypertension and sudden cardiac death

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 67)
# Related Disease Score Top Affiliating Genes
1 arteries, anomalies of 30.2 APOB APOE LDLR
2 abetalipoproteinemia 29.7 APOB APOE LDLR MTTP
3 hypercholesterolemia, familial 29.7 ABCG5 ABCG8 APOB APOE HMGCR LDLR
4 coronary heart disease 1 29.6 APOB APOE HMGCR LDLR LIPC
5 aortic atherosclerosis 29.4 ABCG5 ABCG8 APOE LDLR
6 xanthoma disseminatum 10.2 APOB APOE
7 supravalvular aortic stenosis 10.2
8 hyperlipidemia, combined, 1 10.2 APOB LIPC
9 lysosomal and lipase deficiency 10.2 APOB LDLRAP1
10 huntington disease-like 1 10.2 APOB APOE
11 leukodystrophy, hypomyelinating, 3 10.1 APOB APOE
12 schnyder corneal dystrophy 10.1 APOB APOE
13 hepatic lipase deficiency 10.1 APOE LIPC
14 ischemic heart disease 10.1 APOB APOE
15 hypoalphalipoproteinemia, primary 10.1 APOB LDLR LIPC
16 hypercholesterolemia, autosomal dominant, type b 10.1 APOB APOE LDLR
17 lipoprotein glomerulopathy 10.1 APOB APOE LDLR
18 cholesterol ester storage disease 10.1 APOB LDLRAP1
19 lecithin:cholesterol acyltransferase deficiency 10.1 APOB APOE LDLR
20 hyperlipoproteinemia, type v 10.1 APOB APOE HMGCR
21 coronary stenosis 10.1 APOB APOE PCSK9
22 smith-lemli-opitz syndrome 10.1 APOE HMGCR LDLR
23 atherosclerosis susceptibility 10.1 APOB APOE LDLR
24 hypobetalipoproteinemia, familial, 2 10.1 APOB PCSK9
25 hypercholesterolemia, autosomal recessive 10.1 LDLR LDLRAP1 PCSK9
26 hypertriglyceridemia, familial 10.1 APOB APOE LIPC
27 cerebrovascular disease 10.1 APOB APOE LDLR
28 hypobetalipoproteinemia, familial, 1 10.1 APOB MTTP PCSK9
29 arteriosclerosis 10.0 APOB APOE HMGCR
30 chylomicron retention disease 10.0 APOB MTTP
31 hypolipoproteinemia 10.0 APOB APOE MTTP
32 coronary artery anomaly 10.0
33 heart disease 10.0
34 inherited metabolic disorder 10.0 APOB PCSK9 SREBF1
35 fatty liver disease, nonalcoholic 1 10.0 MTTP SREBF1
36 macular degeneration, age-related, 1 10.0 APOB APOE LIPC
37 sea-blue histiocyte disease 10.0 APOB APOE LDLR PCSK9
38 stroke, ischemic 10.0 APOB APOE HMGCR
39 hyperalphalipoproteinemia 1 10.0 APOB APOE LDLR LIPC
40 vascular disease 10.0 APOB APOE HMGCR LDLR
41 nonalcoholic fatty liver disease 9.9 APOB MTTP SREBF1
42 hemorrhage, intracerebral 9.9 APOE HMGCR
43 gallbladder disease 4 9.9 ABCG5 ABCG8
44 defective apolipoprotein b-100 9.9 APOB APOE HMGCR LDLR PCSK9
45 takayasu arteritis 9.9
46 focal segmental glomerulosclerosis 1 9.9
47 arthritis 9.9
48 congestive heart failure 9.9
49 focal segmental glomerulosclerosis 9.9
50 nephrocalcinosis 9.9

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 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
2 sudden cardiac death 59 32 frequent (33%) Frequent (79-30%) HP:0001645
3 arthralgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002829
4 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
5 myocardial infarction 59 32 frequent (33%) Frequent (79-30%) HP:0001658
6 angina pectoris 59 32 frequent (33%) Frequent (79-30%) HP:0001681
7 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0001397
8 mitral regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001653
9 hyperlipidemia 59 32 obligate (100%) Obligate (100%) HP:0003077
10 hypercholesterolemia 59 32 obligate (100%) Obligate (100%) HP:0003124
11 supravalvular aortic stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004381
12 optic neuropathy 59 32 very rare (1%) Very rare (<4-1%) HP:0001138
13 heart murmur 59 32 frequent (33%) Frequent (79-30%) HP:0030148
14 precocious atherosclerosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004416
15 calcification of the aorta 59 32 occasional (7.5%) Occasional (29-5%) HP:0004963
16 abnormality of nervous system physiology 59 32 very rare (1%) Very rare (<4-1%) HP:0012638
17 renal artery stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0001920
18 renal steatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000799
19 tendon xanthomatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0010874
20 aortic atherosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0012397
21 left ventricular failure 59 32 frequent (33%) Frequent (79-30%) HP:0005162
22 cerebral artery atherosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0007201
23 premature arteriosclerosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005177
24 peripheral arterial stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0004950
25 myocardial steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0006693
26 abnormal eye physiology 59 32 very rare (1%) Very rare (<4-1%) HP:0012373
27 increased circulating low-density lipoprotein levels 59 Obligate (100%)
28 abnormal tendon morphology 59 Frequent (79-30%)
29 xanthomatosis 59 Occasional (29-5%)
30 premature coronary artery disease 59 Frequent (79-30%)
31 coronary atherosclerosis 59 Frequent (79-30%)
32 abnormality of internal carotid artery 59 Frequent (79-30%)
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 9.76 ABCG8 APOB APOE HMGCR LDLR LDLRAP1
2 Reduced mammosphere formation GR00396-S 9.02 ABCG8 HMGCR LDLR LIPC MTTP
3 Increased LDL uptake GR00340-A-1 8.96 APOE LDLR

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 ABCG5 ABCG8 APOB APOE HMGCR LDLR

Drugs & Therapeutics for Homozygous Familial Hypercholesterolemia

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

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies, Monoclonal Phase 4,Phase 2,Phase 3
2 Immunoglobulins Phase 4,Phase 2,Phase 3
3 Immunologic Factors Phase 4,Phase 2,Phase 3
4 Antibodies Phase 4,Phase 2,Phase 3
5 Mipomersen Approved, Investigational Phase 3,Phase 2 1000120-98-8
6
Simvastatin Approved Phase 3 79902-63-9 54454
7
Ezetimibe Approved Phase 3 163222-33-1 150311
8
Lovastatin Approved, Investigational Phase 3 75330-75-5 53232
9
Pravastatin Approved Phase 3 81093-37-0 54687
10
Fluvastatin Approved Phase 3 93957-54-1 1548972
11
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
12
Fenofibrate Approved Phase 3 49562-28-9 3339
13 sodium fluoride Approved Phase 3 7681-49-4
14
Metoprolol Approved, Investigational Phase 3 37350-58-6, 51384-51-1 4171
15
Nitroglycerin Approved, Investigational Phase 3 55-63-0 4510
16
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
17
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
18
Torcetrapib Investigational Phase 3 262352-17-0 159325
19
Anacetrapib Investigational Phase 3 875446-37-0
20 Anticholesteremic Agents Phase 3,Phase 2
21 Calcium, Dietary Phase 3
22 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3,Phase 2
23 Lipid Regulating Agents Phase 3,Phase 2
24 Antimetabolites Phase 3,Phase 2
25 Hypolipidemic Agents Phase 3,Phase 2
26 Rosuvastatin Calcium Phase 3 147098-20-2
27 Atorvastatin Calcium Phase 3 134523-03-8
28 Pharmaceutical Solutions Phase 3,Phase 1,Phase 2
29 Micronutrients Phase 3,Phase 2
30 Trace Elements Phase 3,Phase 2
31 Cholestyramine Resin Phase 3
32 L 647318 Phase 3
33 Vitamin B9 Phase 3
34 Vitamins Phase 3
35 Vitamin B3 Phase 3
36 Folate Phase 3
37 Omega 3 Fatty Acid Phase 3
38 Nicotinic Acids Phase 3
39 Dihydromevinolin Phase 3
40 Vasodilator Agents Phase 3
41 Vitamin B Complex Phase 3
42 Listerine Phase 3
43 Cariostatic Agents Phase 3
44 Protective Agents Phase 3
45 Adrenergic beta-Antagonists Phase 3
46 Anti-Infective Agents Phase 3
47 Anti-Infective Agents, Local Phase 3
48 Fluorides Phase 3
49 Oxazolidinones Phase 3
50
Cobalt Approved, Experimental Phase 2 7440-48-4 104729

Interventional clinical trials:

(show all 48)
# 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 to Evaluate the Safety of Rosuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia Completed NCT02434497 Phase 3 Rosuvastatin 20mg
3 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
4 Trial Evaluating PCSK9 Antibody in Subjects With LDL Receptor Abnormalities Completed NCT01588496 Phase 2, Phase 3 Placebo
5 A Safety and Efficacy Study of AEGR-733 to Treat Homozygous Familial Hypercholesterolemia (FH) Completed NCT00730236 Phase 3 AEGR-733
6 Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia Completed NCT00607373 Phase 3 mipomersen;Placebo
7 Long Term, Follow-on Study of Lomitapide in Patients With Homozygous Familial Hypercholesterolemia Completed NCT00943306 Phase 3 lomitapide
8 Efficacy and Safety of Lomitapide in Japanese Patients With HoFH on Concurrent Lipid-Lowering Therapy Completed NCT02173158 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 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
15 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
16 Evaluate the Long-Term Safety and Efficacy of Evinacumab in Patients With Homozygous Familial Hypercholesterolemia Enrolling by invitation NCT03409744 Phase 3 evinacumab
17 Trial to Assess the Effect of Long Term Dosing of Inclisiran in Subjects With High CV Risk and Elevated LDL-C Not yet recruiting NCT03814187 Phase 3 Inclisiran Sodium
18 Effect of Evolocumab on Coronary Artery Plaque Volume and Composition by CCTA and Microcalcification by F18-NaF PET Not yet recruiting NCT03689946 Phase 3 Evolocumab
19 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
20 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
21 Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED) Terminated NCT00092833 Phase 3 Comparator: ezetimibe
22 Evaluate the Efficacy and Safety of Lomitapide in Pediatric Patients With Homozygous Familial Hypercholesterolemia on Stable Lipid-lowering Therapy Withdrawn NCT02765841 Phase 3 Lomitapide
23 A Study of ALN-PCSSC in Participants With Homozygous Familial Hypercholesterolemia (HoFH) Completed NCT02963311 Phase 2 ALN-PCSSC;Standard of Care
24 Study of REGN1500 in Patients With Homozygous Familial Hypercholesterolemia (HoFH) Completed NCT02265952 Phase 2 REGN1500
25 Effect of CER-001 on Plaque Volume in Homozygous Familial Hypercholesterolemia (HoFH) Subjects Completed NCT01412034 Phase 2 CER-001
26 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
27 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)
28 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
29 Safety, Tolerability and Efficacy of Microsomal Triglyceride Protein (MTP) Inhibitor Completed NCT01556906 Phase 2 Lomitapide
30 Safety Study of AEM-28 to Treat Refractory Hypercholesterolemia Completed NCT02100839 Phase 1, Phase 2 AEM-28;Normal Saline
31 Open Label Extension of ISIS 301012 (Mipomersen) to Treat Familial Hypercholesterolemia Completed NCT00477594 Phase 2 mipomersen sodium
32 A Gene Therapy Study for Homozygous Familial Hypercholesterolemia (HoFH) Recruiting NCT02651675 Phase 1, Phase 2
33 Implitapide in Patients With Homozygous Familial Hypercholesterolemia (HoFH) on Maximal Concurrent Lipid-Lowering Therapy Terminated NCT00079846 Phase 2 Implitapide
34 Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With Homozygous Familial Hypercholesterolemia (HoFH) Withdrawn NCT03455777 Phase 2 AKCEA-ANGPTL3-LRX
35 Bone Marrow Stem Cells as a Source of Allogenic Hepatocyte Transplantation in Homozygous Familial Hypercholesterolemia Completed NCT00515307 Phase 1
36 Phase I Study of Ex Vivo Liver-Directed Gene Therapy for Familial Hypercholesterolemia Completed NCT00004809 Phase 1
37 Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia Completed NCT01878604
38 Comparisons of Two Low-density Lipoprotein Apheresis Systems in Patients With Homozygous Familial Hypercholesterolemia Completed NCT02286596
39 Cardiovascular Evaluation of Patients With High Cholesterol and Normal Volunteers Completed NCT00001204
40 Vytorin Reexamination Study (0653A-174) Completed NCT01070966
41 Evaluation of the Safety, Tolerability and Efficacy of Ezetimibe on a Select Population of Filipinos With Hypercholesterolemia (Study P04748)(COMPLETED) Completed NCT00704535 Ezetimibe
42 Biomarker for Homozygous Familial Hypercholesterolemia Recruiting NCT03198897
43 The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository Recruiting NCT01109368
44 HDL Acute Lipid Optimization in Homozygous Familial Hypercholesterolemia Recruiting NCT03135184 Not Applicable
45 LOWER: Lomitapide Observational Worldwide Evaluation Registry Enrolling by invitation NCT02135705 Lomitapide
46 Study of cardiovAscular Contrasted Phenotypes in Patients With FamIliaI hypercholesteRolemia Not yet recruiting NCT03234127 Not Applicable
47 Screening Protocol for a Gene Therapy Trial in Subjects With Homozygous Familial Hypercholesterolemia Suspended NCT03018678
48 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, Eye, Skin, Brain, Bone Marrow

Publications for Homozygous Familial Hypercholesterolemia

Articles related to Homozygous Familial Hypercholesterolemia:

(show top 50) (show all 293)
# 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
Early severe coronary heart disease and ischemic heart failure in homozygous familial hypercholesterolemia: A case report. ( 30335000 )
2018
10
Dietary Intake during 56 Weeks of a Low-Fat Diet for Lomitapide Treatment in Japanese Patients with Homozygous Familial Hypercholesterolemia. ( 29899183 )
2018
11
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
12
Multimodal treatment of homozygous familial hypercholesterolemia. ( 30306858 )
2018
13
The efficacy of double filtration plasmapheresis in the treatment of homozygous familial hypercholesterolemia: A single-center experience. ( 30545658 )
2018
14
Efficacy and safety of lipoprotein apheresis in children with homozygous familial hypercholesterolemia: A systematic review. ( 30553758 )
2018
15
Liver Transplantation for Homozygous Familial Hypercholesterolemia. ( 30555131 )
2018
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
Alirocumab efficacy in patients with double heterozygous, compound heterozygous, or homozygous familial hypercholesterolemia. ( 29396260 )
2017
20
A First-in-Class Drug, Lomitapide, Tailored to Patients with Homozygous Familial Hypercholesterolemia is Just about Meeting with Good News to Them. ( 28239069 )
2017
21
Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia. ( 28761763 )
2017
22
Managing the challenging homozygous familial hypercholesterolemia patient: Academic insights and practical approaches for a severe dyslipidemia, a National Lipid Association Masters Summit. ( 28506384 )
2017
23
Long-Term Efficacy and Safety of the Microsomal Triglyceride Transfer Protein Inhibitor Lomitapide in Patients With Homozygous Familial Hypercholesterolemia. ( 28716835 )
2017
24
Is lomitapide a life-saving drug in homozygous familial hypercholesterolemia. ( 28952803 )
2017
25
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
26
Managing Patients With Homozygous Familial Hypercholesterolemia. ( 28838367 )
2017
27
Homozygous familial hypercholesterolemia: Summarized case reports. ( 28126585 )
2017
28
Nonclinical Pharmacology/Toxicology Study of AAV8.TBG.mLDLR and AAV8.TBG.hLDLR in a Mouse Model of Homozygous Familial Hypercholesterolemia. ( 28319445 )
2017
29
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
30
Balancing Low-density Lipoprotein Cholesterol Reduction and Hepatotoxicity With Lomitapide Mesylate and Mipomersen in Patients With Homozygous Familial Hypercholesterolemia. ( 28509890 )
2017
31
The effect of lomitapide on cardiovascular outcome measures in homozygous familial hypercholesterolemia: A modelling analysis. ( 28925748 )
2017
32
Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-old Girl. ( 29072176 )
2017
33
Efficacy and Safety of Lomitapide in Japanese Patients with Homozygous Familial Hypercholesterolemia. ( 28154305 )
2017
34
Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor): Implications for the Efficacy of Evolocumab. ( 29284604 )
2017
35
Homozygous Familial Hypercholesterolemia: Anesthetic Challenges and Review of Literature. ( 28952401 )
2017
36
Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients: Insights from SAFEHEART registry. ( 27578128 )
2016
37
Extremely severe aortic stenosis developed in a young female patient with underdiagnosis of homozygous familial hypercholesterolemia: An 8-year follow-up. ( 26820372 )
2016
38
Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations. ( 27816806 )
2016
39
Progressive Aortic Stenosis in Homozygous Familial Hypercholesterolemia After Liver Transplant. ( 27940769 )
2016
40
Lomitapide for use in patients with homozygous familial hypercholesterolemia: a narrative review. ( 26943823 )
2016
41
Characterization of the unique Chinese W483XA mutation in the low-density lipoprotein-receptor gene in young patients with homozygous familial hypercholesterolemia. ( 27206941 )
2016
42
The complexities of homozygous familial hypercholesterolemia management. ( 27882690 )
2016
43
Effects of Liver Transplantation on Lipids and Cardiovascular Disease in Children With Homozygous Familial Hypercholesterolemia. ( 27365335 )
2016
44
Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship. ( 27784735 )
2016
45
Targeting microsomal triglyceride transfer protein and lipoprotein assembly to treat homozygous familial hypercholesterolemia. ( 27690713 )
2016
46
Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia. ( 27182539 )
2016
47
Recent Developments in Gene Therapy for Homozygous Familial Hypercholesterolemia. ( 26980316 )
2016
48
Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations. ( 27578127 )
2016
49
Homozygous familial hypercholesterolemia in childhood: Genotype-phenotype description, established therapies and perspectives. ( 26894473 )
2016
50
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

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 ABCG5 ABCG8 APOB APOE HMGCR LDLR
2
Show member pathways
12.07 APOB LDLR LDLRAP1
3
Show member pathways
12.01 APOB APOE LDLR
4
Show member pathways
11.98 APOB APOE LDLR
5
Show member pathways
11.86 ABCG5 ABCG8 APOB APOE LDLR LDLRAP1
6
Show member pathways
11.77 ABCG5 ABCG8 APOB APOE HMGCR LDLR
7 11.47 HMGCR LDLR SREBF1
8 11.47 ABCG5 ABCG8 HMGCR LDLR
9
Show member pathways
11.2 ABCG5 ABCG8 APOB MTTP
10 11.07 HMGCR SREBF1
11 10.96 APOE LDLR
12 10.82 HMGCR LDLR SREBF1
13
Show member pathways
10.18 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 Golgi apparatus GO:0005794 9.95 APOE LDLR MTTP PCSK9 SREBF1
2 endoplasmic reticulum GO:0005783 9.91 APOB APOE HMGCR MTTP PCSK9 SOAT1
3 receptor complex GO:0043235 9.71 ABCG5 ABCG8 LDLR MTTP
4 endoplasmic reticulum lumen GO:0005788 9.55 APOB APOE LIPC MTTP PCSK9
5 high-density lipoprotein particle GO:0034364 9.54 APOE LIPC
6 very-low-density lipoprotein particle GO:0034361 9.52 APOB APOE
7 endocytic vesicle lumen GO:0071682 9.51 APOB APOE
8 clathrin-coated endocytic vesicle membrane GO:0030669 9.5 APOB APOE LDLR
9 chylomicron GO:0042627 9.49 APOB APOE
10 endolysosome membrane GO:0036020 9.48 LDLR PCSK9
11 ATP-binding cassette (ABC) transporter complex GO:0043190 9.46 ABCG5 ABCG8
12 intermediate-density lipoprotein particle GO:0034363 9.43 APOB APOE
13 early endosome GO:0005769 9.35 APOB APOE LDLR LDLRAP1 PCSK9
14 PCSK9-LDLR complex GO:1990666 9.26 LDLR PCSK9
15 low-density lipoprotein particle GO:0034362 8.8 APOB APOE LDLR

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 lipid transport GO:0006869 9.93 ABCG5 ABCG8 APOB APOE LDLR MTTP
3 receptor-mediated endocytosis GO:0006898 9.92 APOB APOE LDLR LDLRAP1
4 cellular protein metabolic process GO:0044267 9.87 APOB APOE PCSK9
5 membrane organization GO:0061024 9.85 APOB LDLR LDLRAP1
6 response to nutrient GO:0007584 9.82 ABCG5 ABCG8 HMGCR
7 cholesterol transport GO:0030301 9.8 APOB LDLR LDLRAP1 LIPC
8 cholesterol efflux GO:0033344 9.8 ABCG5 ABCG8 APOB APOE SOAT1
9 phospholipid transport GO:0015914 9.79 ABCG8 LDLR MTTP
10 triglyceride metabolic process GO:0006641 9.78 APOE MTTP PCSK9
11 regulation of cholesterol biosynthetic process GO:0045540 9.77 APOB HMGCR SREBF1
12 lipoprotein metabolic process GO:0042157 9.77 APOB APOE LDLR MTTP PCSK9
13 steroid metabolic process GO:0008202 9.76 APOB APOE HMGCR LDLR LDLRAP1 PCSK9
14 triglyceride catabolic process GO:0019433 9.73 APOB APOE LIPC
15 chylomicron remnant clearance GO:0034382 9.73 APOB APOE LDLR LIPC
16 low-density lipoprotein particle remodeling GO:0034374 9.72 APOB APOE LIPC
17 low-density lipoprotein particle clearance GO:0034383 9.72 APOB LDLR LDLRAP1 PCSK9 SOAT1
18 cholesterol biosynthetic process GO:0006695 9.71 APOE HMGCR
19 very-low-density lipoprotein particle assembly GO:0034379 9.71 APOB MTTP SOAT1
20 negative regulation of MAP kinase activity GO:0043407 9.7 APOE HMGCR
21 excretion GO:0007588 9.7 ABCG5 ABCG8
22 long-term memory GO:0007616 9.7 APOE LDLR
23 chylomicron assembly GO:0034378 9.7 APOB APOE MTTP
24 triglyceride homeostasis GO:0070328 9.69 APOE LIPC
25 cellular response to fatty acid GO:0071398 9.69 LDLR SREBF1
26 drug transmembrane transport GO:0006855 9.69 ABCG5 ABCG8
27 intestinal cholesterol absorption GO:0030299 9.69 ABCG5 ABCG8 LDLR
28 positive regulation of endocytosis GO:0045807 9.68 APOE LDLR
29 lipoprotein transport GO:0042953 9.68 APOB MTTP
30 artery morphogenesis GO:0048844 9.68 APOB APOE
31 reverse cholesterol transport GO:0043691 9.68 APOE LIPC
32 high-density lipoprotein particle remodeling GO:0034375 9.67 APOE LIPC
33 regulation of cholesterol metabolic process GO:0090181 9.67 APOE LDLR
34 positive regulation of triglyceride biosynthetic process GO:0010867 9.66 LDLR SREBF1
35 regulation of protein metabolic process GO:0051246 9.66 APOE LDLR
36 amyloid precursor protein metabolic process GO:0042982 9.65 APOE LDLRAP1
37 high-density lipoprotein particle clearance GO:0034384 9.65 APOE LDLR
38 very-low-density lipoprotein particle remodeling GO:0034372 9.65 APOE LIPC
39 lipoprotein catabolic process GO:0042159 9.65 APOB APOE LDLR
40 cholesterol homeostasis GO:0042632 9.65 ABCG5 ABCG8 APOB APOE LDLR LDLRAP1
41 chylomicron remodeling GO:0034371 9.64 APOB APOE
42 lipoprotein biosynthetic process GO:0042158 9.63 APOB APOE
43 very-low-density lipoprotein particle clearance GO:0034447 9.63 APOB APOE
44 receptor-mediated endocytosis involved in cholesterol transport GO:0090118 9.61 LDLR LDLRAP1
45 negative regulation of intestinal cholesterol absorption GO:0045796 9.59 ABCG5 ABCG8
46 negative regulation of intestinal phytosterol absorption GO:0010949 9.58 ABCG5 ABCG8
47 positive regulation of low-density lipoprotein particle receptor catabolic process GO:0032805 9.58 APOE PCSK9
48 response to caloric restriction GO:0061771 9.57 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:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.63 APOB APOE LIPC
2 amyloid-beta binding GO:0001540 9.58 APOE LDLR LDLRAP1
3 lipid transporter activity GO:0005319 9.5 APOB APOE MTTP
4 drug transmembrane transporter activity GO:0015238 9.43 ABCG5 ABCG8
5 apolipoprotein binding GO:0034185 9.43 LIPC MTTP PCSK9
6 very-low-density lipoprotein particle receptor binding GO:0070326 9.37 APOE PCSK9
7 low-density lipoprotein particle binding GO:0030169 9.33 LDLR LIPC PCSK9
8 low-density lipoprotein particle receptor binding GO:0050750 9.26 APOB APOE LDLRAP1 PCSK9
9 cholesterol transporter activity GO:0017127 8.92 ABCG5 ABCG8 APOB APOE
10 protein binding GO:0005515 10.22 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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