HOFH
MCID: HMZ003
MIFTS: 60

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 58 6
Hofh 58

Characteristics:

Orphanet epidemiological data:

58
homozygous familial hypercholesterolemia
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide);

Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


Summaries for Homozygous Familial Hypercholesterolemia

MalaCards based summary : Homozygous Familial Hypercholesterolemia, also known as hofh, is related to hypercholesterolemia, familial, 4 and generalized atherosclerosis. 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 Simvastatin and Atorvastatin have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and endothelial, and related phenotypes are increased ldl cholesterol concentration and hyperlipidemia

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 128)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial, 4 32.0 PCSK9 LDLRAP1 LDLR APOB
2 generalized atherosclerosis 30.6 APOE APOB
3 coronary stenosis 30.5 PCSK9 APOE APOB APOA1
4 xanthomatosis 30.4 LDLRAP1 LDLR HMGCR APOE APOB ABCA1
5 hypercholesterolemia, familial, 2 30.3 LDLR APOE APOB
6 cerebral atherosclerosis 30.2 APOE APOB APOA1
7 carotid artery disease 30.2 APOE APOB APOA2 APOA1
8 coronary heart disease 1 30.1 PCSK9 LIPC LDLR HMGCR APOE APOB
9 abetalipoproteinemia 30.1 PCSK9 APOE APOB APOA1
10 inherited metabolic disorder 30.0 PCSK9 HMGCR APOE APOB APOA1 ABCA1
11 arteriosclerosis 30.0 HMGCR APOE APOB APOA1
12 hypoalphalipoproteinemia 29.9 LIPC APOA2 APOA1 ABCA1
13 lipid metabolism disorder 29.9 LIPC LDLR HMGCR APOE APOB APOA2
14 hyperalphalipoproteinemia 1 29.8 LIPC LDLR APOB APOA2 APOA1
15 hypertriglyceridemia, familial 29.8 LIPC APOE APOB APOA2 APOA1
16 familial hyperlipidemia 29.7 LIPC LDLR HMGCR APOE APOB APOA2
17 aortic atherosclerosis 29.7 APOE APOB ABCG8 ABCG5 ABCA1
18 vascular disease 29.7 PCSK9 LIPC HMGCR APOE APOB APOA1
19 huntington disease-like 1 29.7 LDLR APOE APOB APOA2 APOA1 ABCA1
20 cardiovascular system disease 29.6 PCSK9 LIPC LDLR HMGCR APOE APOB
21 atherosclerosis susceptibility 29.6 PCSK9 LIPC HMGCR APOE APOB APOA2
22 heart disease 29.5 SMARCA4 PCSK9 LDLR HMGCR APOE APOB
23 lipoprotein quantitative trait locus 29.4 LIPC LDLRAP1 LDLR HMGCR APOE APOB
24 hypothyroidism 29.1 LIPC GHR APOB APOA1
25 tangier disease 29.0 APOE APOB APOA2 APOA1 ABCG8 ABCG5
26 hypercholesterolemia, familial, 1 27.3 STAP1 SMARCA4 PCSK9 MIR6886 LOC106560211 LIPC
27 familial hypercholesterolemia 27.1 STAP1 SMARCA4 PCSK9 MIR6886 LOC106560211 LIPC
28 supravalvular aortic stenosis 10.5
29 xanthoma disseminatum 10.3 APOE APOB
30 aortic valve disease 2 10.3
31 hypobetalipoproteinemia, familial, 2 10.3 PCSK9 APOB
32 silent myocardial infarction 10.3 APOB APOA1
33 cardiac arrest 10.2
34 mitral valve insufficiency 10.2
35 hypoalphalipoproteinemia, primary, 1 10.2 APOA1 ABCA1
36 intermediate coronary syndrome 10.2 PCSK9 APOB APOA1
37 coronary heart disease 5 10.2 LDLR-AS1 LDLR ABCA1
38 arteries, anomalies of 10.2
39 angina pectoris 10.2
40 aortic valve insufficiency 10.2
41 hepatic lipase deficiency 10.2 LIPC APOE APOA1
42 hereditary amyloidosis 10.2 APOA2 APOA1
43 familial lcat deficiency 10.1 APOE APOA2 APOA1
44 leukodystrophy, hypomyelinating, 3 10.1 APOB APOA2 APOA1
45 ichthyosis, congenital, autosomal recessive 4a 10.1 APOA1 ABCA1
46 fetal macrosomia 10.1 APOB APOA1
47 bacteremia 2 10.1 SMARCA4 HMGCR
48 lipoprotein glomerulopathy 10.1 LDLR APOE APOB APOA2
49 corneal degeneration 10.1 PCSK9 LDLRAP1 APOB APOA1
50 familial lipoprotein lipase deficiency 10.1 LIPC APOE APOB APOA1

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:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased ldl cholesterol concentration 58 31 obligate (100%) Obligate (100%) HP:0003141
2 hyperlipidemia 58 31 obligate (100%) Obligate (100%) HP:0003077
3 hypercholesterolemia 58 31 obligate (100%) Obligate (100%) HP:0003124
4 premature arteriosclerosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005177
5 precocious atherosclerosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004416
6 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
7 sudden cardiac death 58 31 frequent (33%) Frequent (79-30%) HP:0001645
8 hepatic steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0001397
9 myocardial infarction 58 31 frequent (33%) Frequent (79-30%) HP:0001658
10 angina pectoris 58 31 frequent (33%) Frequent (79-30%) HP:0001681
11 dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002094
12 renal artery stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0001920
13 cerebral artery atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0007201
14 heart murmur 58 31 frequent (33%) Frequent (79-30%) HP:0030148
15 peripheral arterial stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0004950
16 premature coronary artery atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0005181
17 myocardial steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0006693
18 abnormal internal carotid artery morphology 58 31 frequent (33%) Frequent (79-30%) HP:3000062
19 abnormal left ventricular function 31 frequent (33%) HP:0005162
20 aortic atherosclerotic lesion 31 frequent (33%) HP:0012397
21 mitral regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001653
22 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829
23 supravalvular aortic stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004381
24 calcification of the aorta 58 31 occasional (7.5%) Occasional (29-5%) HP:0004963
25 renal steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000799
26 tendon xanthomatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010874
27 optic neuropathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001138
28 abnormal eye physiology 58 31 very rare (1%) Very rare (<4-1%) HP:0012373
29 coronary artery aneurysm 31 very rare (1%) HP:0030882
30 abnormal nervous system physiology 31 very rare (1%) HP:0012638
31 abnormal tendon morphology 58 Frequent (79-30%)
32 xanthomatosis 58 Occasional (29-5%)
33 coronary atherosclerosis 58 Frequent (79-30%)
34 left ventricular dysfunction 58 Frequent (79-30%)
35 abnormality of nervous system physiology 58 Very rare (<4-1%)
36 aortic atherosclerosis 58 Frequent (79-30%)
37 coronary artery dilation 58 Very rare (<4-1%)

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 9.26 ABCA1 ABCG8 LDLR LIPC
2 Decreased LDL uptake GR00340-A-1 8.32 LDLR

MGI Mouse Phenotypes related to Homozygous Familial Hypercholesterolemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 ABCA1 ABCG5 ABCG8 APOA1 APOB APOE
2 homeostasis/metabolism MP:0005376 9.83 ABCA1 ABCG5 ABCG8 APOA1 APOA2 APOB
3 liver/biliary system MP:0005370 9.36 ABCA1 ABCG5 ABCG8 APOA1 APOB APOE

Drugs & Therapeutics for Homozygous Familial Hypercholesterolemia

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

(show top 50) (show all 59)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 3 79902-63-9 54454
2
Atorvastatin Approved Phase 3 134523-00-5 60823
3
Mipomersen Approved, Investigational Phase 3 1000120-98-8
4
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
5
Pravastatin Approved Phase 3 81093-37-0 54687
6
Fenofibrate Approved Phase 3 49562-28-9 3339
7
Lovastatin Approved, Investigational Phase 3 75330-75-5 53232
8
Metoprolol Approved, Investigational Phase 3 37350-58-6, 51384-51-1 4171
9
sodium fluoride Approved Phase 3 7681-49-4
10
Nitroglycerin Approved, Investigational Phase 3 55-63-0 4510
11
Evolocumab Approved Phase 3 1256937-27-5
12
Ezetimibe Approved Phase 3 163222-33-1 150311
13
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
14
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
15
Anacetrapib Investigational Phase 3 875446-37-0
16 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
17 Rosuvastatin Calcium Phase 3 147098-20-2
18 Calcium, Dietary Phase 3
19 Vitamin B9 Phase 3
20 Vasodilator Agents Phase 3
21 Nutrients Phase 3
22 Trace Elements Phase 3
23 Micronutrients Phase 3
24 Dihydromevinolin Phase 3
25 Omega 3 Fatty Acid Phase 3
26 Vitamin B Complex Phase 3
27 Cholestyramine Resin Phase 3
28 Vitamins Phase 3
29 Folate Phase 3
30 Nicotinic Acids Phase 3
31 L 647318 Phase 3
32 Vitamin B3 Phase 3
33 Antibodies Phase 2, Phase 3
34 Immunoglobulins Phase 2, Phase 3
35 Antibodies, Monoclonal Phase 2, Phase 3
36 Anti-Infective Agents, Local Phase 3
37 Fluorides Phase 3
38 Protective Agents Phase 3
39 Adrenergic beta-Antagonists Phase 3
40 Anti-Infective Agents Phase 3
41 Listerine Phase 3
42 Pharmaceutical Solutions Phase 3
43 Lipid Regulating Agents Phase 3
44 Anticholesteremic Agents Phase 3
45 Antimetabolites Phase 3
46 Hypolipidemic Agents Phase 3
47
Calcium Nutraceutical Phase 3 7440-70-2 271
48
Cobalt Approved, Experimental Phase 2 7440-48-4 104729
49
Heparin Approved, Investigational 9005-49-6 772 9812414
50
Coal tar Approved 8007-45-2

Interventional clinical trials:

(show top 50) (show all 56)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Open-label, Single-arm, Study to Evaluate Safety and Tolerability of Repatha in Patients With Homozygous Familial Hypercholesterolemia (HoFH) in India Completed NCT03403374 Phase 4 evolocumab
2 2-part, Phase 2/3 Study to Assess the Safety, Tolerability and Efficacy of AMG 145 in Subjects With Homozygous Familial Hypercholesterolemia. Part A - Open-label, Single-arm, Multicenter Pilot Study to Evaluate Safety, Tolerability and Efficacy of AMG 145 in Subjects With Homozygous Familial Hypercholesterolemia. Part B - Double-blind, Randomized, Placebo-controlled, Multicenter Study to Evaluate Safety, Tolerability and Efficacy of AMG 145 in Subjects With Homozygous Familial Hypercholesterolemia Completed NCT01588496 Phase 2, Phase 3 Placebo
3 An Open-Label Long-Term Extension to the Randomized, Double-blind, Placebo-controlled, Multi-center, Cross-over Study of Rosuvastatin in Children and Adolescents (Aged 6 to <18 Years) With Homozygous Familial Hypercholesterolemia (HoFH) Completed NCT02434497 Phase 3 Rosuvastatin 20mg
4 A Randomized, Double-blind, Placebo-controlled, Multi-center, Cross-over Study of Rosuvastatin in Children and Adolescents (Aged 6 to <18 Years) With Homozygous Familial Hypercholesterolemia (HoFH) Completed NCT02226198 Phase 3 Rosuvastatin 20mg;Placebo
5 A Phase 3, Single-Arm, Open-Label, Multicenter Study to Evaluate the Efficacy and Safety of Lomitapide in Japanese Patients With Homozygous Familial Hypercholesterolemia (HoFH) on Concurrent Lipid-Lowering Therapy Completed NCT02173158 Phase 3 lomitapide
6 A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of Alirocumab in Patients With Homozygous Familial Hypercholesterolemia Completed NCT03156621 Phase 3 Alirocumab;Placebo
7 A Randomized, Double-blind, Placebo-controlled, Parallel-group Study to Evaluate the Efficacy and Safety of Evinacumab in Patients With Homozygous Familial Hypercholesterolemia Completed NCT03399786 Phase 3 evinacumab;Placebo
8 A Phase III Study of Microsomal Triglyceride Transfer Protein (MTP) Inhibitor AEGR-733 in Patients With Homozygous Familial Hypercholesterolemia on Current Lipid-lowering Therapy Completed NCT00730236 Phase 3 AEGR-733
9 Long-Term, Open-Label, Safety and Tolerability Study of SCH 58235 in Addition to Atorvastatin or Simvastatin in the Therapy of Homozygous Familial Hypercholesterolemia Completed NCT03885921 Phase 3 Ezetimibe;Atorvastatin;Simvastatin
10 An Open-Label Study to Evaluate the Efficacy and Safety of Alirocumab in Children and Adolescents With Homozygous Familial Hypercholesterolemia Completed NCT03510715 Phase 3 Alirocumab SAR236553 (REGN727);Atorvastatin;Simvastatin;Fluvastatin;Pravastatin;Lovastatin;Rosuvastatin;Ezetimibe;Cholestyramine;Nicotinic acid;Fenofibrate;Omega-3 fatty acids
11 A Phase III Efficacy And Safety Study of Ezetimibe (SCH58235) 10 mg in Addition to Atorvastatin or Simvastatin in the Therapy of Homozygous Familial Hypercholesterolemia Completed NCT03884452 Phase 3 Atorvastatin;Simvastatin;Ezetimibe;Placebo for Ezetimibe
12 A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Safety and Efficacy of Mipomersen as Add-on Therapy in Homozygous Familial Hypercholesterolemia Subjects Completed NCT00607373 Phase 3 mipomersen;Placebo
13 A Phase III, Long Term, Open Label, Follow on Study of Microsomal Triglyceride Transfer Protein (MTP) Inhibitor 'Lomitapide' (LOMITAPIDE) in Patients With Homozygous Familial Hypercholesterolemia Completed NCT00943306 Phase 3 lomitapide
14 Phase 2b/3 Study to Assess the Efficacy and Safety of IBI306 in Subjects With Homozygous Familial Hypercholesterolemia. Part 1 - Open-label, Two-arm, Multicenter Pilot Study to Evaluate Efficacy and Safety of IBI 306 in Subjects With Homozygous Familial Hypercholesterolemia. Part 2 - Open-label, Single-arm, Multicenter Study to Evaluate Efficacy and Safety of IBI 306 in Subjects With Homozygous Familial Hypercholesterolemia Recruiting NCT04031742 Phase 2, Phase 3
15 Effect of Evolocumab on Coronary Artery Plaque Volume and Composition by Coronary CTA (CCTA) and Microcalcification by F18-NaF PET: A Phase 3 Study Recruiting NCT03689946 Phase 3 Evolocumab
16 Two Part (Double-blind Inclisiran Versus Placebo [Year 1] Followed by Open-label Inclisiran [Year 2]) Randomized Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Inclisiran in Adolescents (12 to Less Than 18 Years) With Homozygous Familial Hypercholesterolemia and Elevated LDL-cholesterol (ORION-13) Recruiting NCT04659863 Phase 3 Inclisiran;Placebo
17 A Three-Part, Single-Arm, Open-Label Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of Evinacumab in Pediatric Patients With Homozygous Familial Hypercholesterolemia Recruiting NCT04233918 Phase 3 Evinacumab
18 Phase III, Single Arm, Open Label, International, Multi Centre Study to Evaluate the Efficacy and Safety of Lomitapide in Paediatric Patients With Homozygous Familial Hypercholesterolaemia (HoFH) on Stable Lipid Lowering Therapy Recruiting NCT04681170 Phase 3 Lomitapide
19 A Two-Part (Double-Blind Placebo Controlled/Open-Label) Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Inclisiran in Subjects With Homozygous Familial Hypercholesterolemia (HoFH) (ORION-5) Active, not recruiting NCT03851705 Phase 3 Inclisiran for injection;Placebo
20 Open-label, Single-Arm, Multicenter Study to Evaluate the Safety, Tolerability and Efficacy of Evolocumab for LDL-C Reduction, as Add-on to Diet and Lipid-lowering Therapy, in Pediatric Subjects From 10 to 17 Years of Age With Heterozygous Familial Hypercholesterolemia (HeFH) or Homozygous Familial Hypercholesterolemia (HoFH) Active, not recruiting NCT02624869 Phase 3
21 An Open-Label Study to Evaluate the Long-Term Safety and Efficacy of Evinacumab in Patients With Homozygous Familial Hypercholesterolemia Active, not recruiting NCT03409744 Phase 3 evinacumab
22 Randomized, Open-Label, Cross-Over, Phase 3 Study to Evaluate the Efficacy and Safety of LIB003 With Evolocumab in Homozygous Familial Hypercholesterolemia Patients on Stable Lipid-Lowering Therapy Enrolling by invitation NCT04034485 Phase 3 LIB003 (lerodalcibep);evolocumab
23 Open-Label Extension Phase 3 Study to Evaluate the Long-Term Efficacy and Safety of LIB003 in Patients With HoFH and HeFH, CVD, or at High Risk for CVD, on Stable Lipid-Lowering Therapy Requiring Additional LDL-C Reduction Enrolling by invitation NCT04798430 Phase 3 lerodalcibep
24 A Worldwide, Multicenter, Double-Blind, Randomized, Placebo-Controlled, 12-Week Study to Assess the Efficacy and Tolerability of Anacetrapib When Added to Ongoing Lipid-Lowering Therapy in Adult Patients With Homozygous Familial Hypercholesterolemia (HoFH) Terminated NCT01841684 Phase 3 Anacetrapib;Placebo
25 An Open-Label, Worldwide, Treatment Use Study to Provide Ezetimibe 10 Mg/Day to Patients With Homozygous Familial Hypercholesterolemia or Homozygous Sitosterolemia Terminated NCT00092833 Phase 3 Comparator: ezetimibe
26 A Double-blind, Placebo-controlled, Randomized Study to Evaluate the Efficacy and Safety of TAK-475 or Placebo When Co-administered With Current Lipid-lowering Therapy in Subjects With Homozygous Familial Hypercholesterolemia. Terminated NCT00263081 Phase 3 Lapaquistat acetate and current lipid-lowering treatment;Current lipid-lowering treatment
27 A Phase 3, Single-arm, Open-label, International, Multi-center Study to Evaluate the Efficacy and Safety of Lomitapide in Pediatric Patients With Homozygous Familial Hypercholesterolemia on Stable Lipid-lowering Therapy Withdrawn NCT02765841 Phase 3 Lomitapide
28 AAV8-mediated Low Density Lipoprotein Receptor (LDLR) Gene Replacement in Subjects With Homozygous Familial Hypercholesterolemia (HoFH) Completed NCT02651675 Phase 1, Phase 2
29 An Open-Label, Single-Arm, Multicenter Pilot Study to Evaluate Safety, Tolerability, and Efficacy of ALN-PCSSC in Subjects With Homozygous Familial Hypercholesterolemia (HoFH) Completed NCT02963311 Phase 2 ALN-PCSSC;Standard of Care
30 A 12-week, Open-label, Dose-escalating, Phase 2 Study to Evaluate the Effects of MBX-8025 in Patients With Homozygous Familial Hypercholesterolemia (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)
31 Modifying Orphan Disease Evaluation (MODE) Study: A Multicenter, Open-label Study of the Effects of CER-001 on Plaque Volume in Subjects With Homozygous Familial Hypercholesterolemia (HoFH) Completed NCT01412034 Phase 2 CER-001
32 An Open-Label, Single-Arm, Proof-of-Concept Study to Evaluate the Safety and Efficacy of Single and Multiple Doses of REGN1500 in Patients With Homozygous Familial Hypercholesterolemia Completed NCT02265952 Phase 2 REGN1500 250 mg SC/15 mg/kg IV/450 mg SC
33 A Phase II Open Label, Dose-Escalation Study to Determine the Safety, Tolerability and Efficacy of Microsomal Triglyceride Transfer Protein (MTP) Inhibitor BMS-201038 in Patients With Homozygous Familial Hypercholeterolemia Completed NCT01556906 Phase 2 Lomitapide
34 A Phase 2 Open-Label, Dose-Finding Study to Assess the Efficacy, Safety, and Tolerability of Gemcabene in Patients With Homozygous Familial Hypercholesterolemia on Stable, Lipid Lowering Therapy (COBALT-1) Completed NCT02722408 Phase 2 Gemcabene
35 A Phase 2, Open-Label, Dose Escalation Study to Assess the Safety and Efficacy of ISIS 301012 as Add-on Therapy in Homozygous Familial Hypercholesterolemia Subjects Completed NCT00280995 Phase 2 ISIS 301012;ISIS 301012;ISIS 301012;ISIS 301012
36 A Phase 2 Study to Evaluate the Safety and Efficacy of PCSK9 Inhibitor AK102 in Patients With Homozygous Familial Hypercholesterolemia (HoFH) Recruiting NCT03933293 Phase 2 AK102;Statins;Ezetimibe
37 An Open-label, Single-arm Study Evaluated the Efficacy and Safety of JS002 in Patients With Homozygous Familial Hypercholesterolemia Recruiting NCT04515927 Phase 2 JS002
38 Open-label, Single-arm, Multicentre Study to Evaluate Efficacy and Safety of SHR-1209 in Subjects With Homozygous Familial Hypercholesterolemia Not yet recruiting NCT04455581 Phase 2 SHR-1209
39 Safety and Efficacy Study of Implitapide Compared With Placebo in Patients With Homozygous Familial Hypercholesterolemia (HoFH) on Maximal Concurrent Lipid-Lowering Therapy Terminated NCT00079846 Phase 2 Implitapide
40 A Phase 2 Open-Label Study to Assess the Pharmacodynamics, Pharmacokinetics, Safety and Tolerability of ISIS 703802 (AKCEA-ANGPTL3-LRx) Administered Subcutaneously to Patients With Homozygous Familial Hypercholesterolemia (HoFH) Withdrawn NCT03455777 Phase 2 AKCEA-ANGPTL3-LRX
41 In-Vitro Transdifferentiation of Mesenchymal Stem Cells to Hepatocytes and Allogenic Transplantation of Hepatocytes to the Patients With Homozygous Familial Hypercholesterolemia Completed NCT00515307 Phase 1
42 Re-examination Study for General Drug Use to Assess the Safety and Efficacy Profile of VYTORIN in Usual Practice Completed NCT01070966
43 Clinical and Laboratory Assessment Study of Patients With a Clinical Presentation Consistent With Homozygous Familial Hypercholesterolemia (HoFH) Completed NCT04148001
44 Comparisons of Two Low-density Lipoprotein Apheresis Systems in Patients With Homozygous Familial Hypercholesterolemia Completed NCT02286596
45 The Study of Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia Completed NCT01878604
46 A Kinetic Study Investigating Lipoprotein Metabolism Before and After the Administration of REGN1500, an ANGPTL3 Inhibitor, in Patients With Homozygous Familial Hypercholesterolemia. A Sub-study for Subjects Enrolled in the R1500-CL-1331 Clinical Trial Completed NCT04722068
47 Screening Protocol for a Gene Therapy Trial in Subjects With Homozygous Familial Hypercholesterolemia Completed NCT03018678
48 Cardiovascular Evaluation of Homozygous Familial Hypercholesterolemia Completed NCT00001204
49 HoFH, the International Clinical Collaborators - A Global HoFH Data-sharing Platform Recruiting NCT04815005
50 The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository Recruiting NCT01109368

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:

40
Heart, Eye, Endothelial, Whole Blood, Smooth Muscle, Liver, Bone Marrow

Publications for Homozygous Familial Hypercholesterolemia

Articles related to Homozygous Familial Hypercholesterolemia:

(show top 50) (show all 1302)
# Title Authors PMID Year
1
Autosomal recessive hypercholesterolemia in Spain. 6 61
29245109 2018
2
Compound heterozygous familial hypercholesterolemia in a Chinese boy with a de novo and transmitted low-density lipoprotein receptor mutation. 61 6
29233637 2018
3
Homozygous familial hypercholesterolemia: Summarized case reports. 6 61
28126585 2017
4
Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship. 61 6
27784735 2016
5
Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations. 61 6
27816806 2016
6
Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations. 61 6
27578127 2016
7
Individual analysis of patients with HoFH participating in a phase 3 trial with lomitapide: The Italian cohort. 6 61
26723464 2016
8
Early development of xanthoma and coronary disease in a young female with homozygous familial hypercholesterolemia. 61 6
25043216 2014
9
Familial Hypercholesterolemia 61 6
24404629 2014
10
Effect of the proprotein convertase subtilisin/kexin 9 monoclonal antibody, AMG 145, in homozygous familial hypercholesterolemia. 6 61
24014831 2013
11
Altered metabolism of low-density lipoprotein and very-low-density lipoprotein remnant in autosomal recessive hypercholesterolemia: results from stable isotope kinetic study in vivo. 6 61
22157599 2012
12
Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan. 61 6
21146822 2011
13
Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation. 61 6
21145767 2011
14
Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients. 6 61
19073363 2009
15
Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia. 6 61
19026292 2008
16
Low-density lipoprotein apheresis in children with familial hypercholesterolemia: follow-up to 21 years. 6 61
18503695 2008
17
Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation. 6 61
18339137 2008
18
Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene. 61 6
18263977 2008
19
Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison. 61 6
16343504 2006
20
Analysis of low-density lipoprotein receptor gene mutations in a Chinese patient with clinically homozygous familial hypercholesterolemia. 61 6
14570618 2003
21
A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia. 61 6
11298688 2001
22
FH-Freiburg: a novel missense mutation (C317Y) in growth factor repeat A of the low density lipoprotein receptor gene in a German patient with homozygous familial hypercholesterolemia. 6 61
10924730 2000
23
Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia. 6 61
9974426 1999
24
Phenotypic consequences of a deletion of exons 2 and 3 of the LDL receptor gene. 61 6
9925649 1999
25
Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote. 6 61
8831933 1996
26
Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom. 61 6
9026534 1996
27
Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento). 61 6
7545204 1995
28
Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin. 61 6
8347689 1993
29
A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor. 61 6
1446662 1992
30
Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia. 61 6
1352322 1992
31
Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors. 61 6
2726768 1989
32
Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia. 6 61
3263645 1988
33
Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions. 61 6
3343347 1988
34
The longest-lived patient with homozygous familial hypercholesterolemia secondary to a defect in internalization of the LDL receptor. 6 61
3425583 1987
35
Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia. 61 6
3818645 1987
36
The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum. 61 6
3025214 1987
37
Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia. 61 6
3020025 1986
38
Familial hypercholesterolemia. Evidence for a newly recognized mutation determining increased fibroblast receptor affinity but decreased capacity for low density lipoprotein in two siblings. 6 61
6288770 1982
39
Homozygous familial hypercholesterolemia mutant with a defect in internalization of low density lipoprotein. 61 6
6272292 1981
40
Functional analysis of six uncharacterised mutations in LDLR gene. 6
31689621 2019
41
Functional analysis of new variants at the low-density lipoprotein receptor associated with familial hypercholesterolemia. 6
31106925 2019
42
Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction. 6
30586733 2019
43
Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants. 6
29874871 2018
44
In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population. 6
29172679 2018
45
The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population. 6
29213121 2017
46
Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia. 6
28964736 2017
47
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study. 6
28965616 2017
48
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 6
28349240 2017
49
Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic. 6
28379029 2017
50
Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia. 6
28169869 2017

Variations for Homozygous Familial Hypercholesterolemia

ClinVar genetic disease variations for Homozygous Familial Hypercholesterolemia:

6 (show top 50) (show all 3238)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LDLRAP1 NM_015627.2(LDLRAP1):c.65G>A (p.Trp22Ter) SNV Pathogenic 4773 rs121908324 GRCh37: 1:25870254-25870254
GRCh38: 1:25543763-25543763
2 LDLRAP1 NM_015627.2(LDLRAP1):c.406C>T (p.Gln136Ter) SNV Pathogenic 4775 rs121908325 GRCh37: 1:25883705-25883705
GRCh38: 1:25557214-25557214
3 LDLRAP1 NM_015627.2(LDLRAP1):c.89-1G>C SNV Pathogenic 4779 rs755104973 GRCh37: 1:25880412-25880412
GRCh38: 1:25553921-25553921
4 LDLRAP1 NM_015627.2(LDLRAP1):c.459+2T>G SNV Pathogenic 4780 rs1461905374 GRCh37: 1:25883760-25883760
GRCh38: 1:25557269-25557269
5 LDLRAP1 NM_015627.3(LDLRAP1):c.571del (p.Asp191fs) Deletion Pathogenic 860136 GRCh37: 1:25889596-25889596
GRCh38: 1:25563105-25563105
6 LDLRAP1 NM_015627.2(LDLRAP1):c.863C>T (p.Ser288Leu) SNV Pathogenic 520396 rs753151497 GRCh37: 1:25893419-25893419
GRCh38: 1:25566928-25566928
7 LDLRAP1 NC_000001.11:g.(?_25543689)_(25557277_?)del Deletion Pathogenic 830746 GRCh37: 1:25870180-25883768
GRCh38:
8 LDLR FH Paris 1 Deletion Pathogenic 3700 rs1555803632 GRCh37: 19:11217115-11217887
GRCh38: 19:11106439-11107211
9 LDLR FH London 2 Deletion Pathogenic 3715 GRCh37:
GRCh38:
10 LDLR FH Vancouver 2 Deletion Pathogenic 3717 GRCh37:
GRCh38:
11 LDLR FH Reykjavik Deletion Pathogenic 3719 GRCh37:
GRCh38:
12 LDLR FH Tsukuba 2 Deletion Pathogenic 3721 GRCh37:
GRCh38:
13 LDLR LDLR, EX17-18DEL Deletion Pathogenic 3722 GRCh37:
GRCh38:
14 LDLR FH Leiden 3 Deletion Pathogenic 3723 GRCh37:
GRCh38:
15 LDLR FH Pavia Deletion Pathogenic 3728 GRCh37:
GRCh38:
16 APOA2 APOA2, -265T-C SNV Pathogenic 17936 GRCh37:
GRCh38:
17 LDLR NM_000527.5(LDLR):c.1685G>A (p.Trp562Ter) SNV Pathogenic 226364 rs875989925 GRCh37: 19:11226868-11226868
GRCh38: 19:11116192-11116192
18 LDLR NM_000527.5(LDLR):c.246C>A (p.Cys82Ter) SNV Pathogenic 226309 rs875989891 GRCh37: 19:11213395-11213395
GRCh38: 19:11102719-11102719
19 LDLR NM_000527.4(LDLR):c.908_926dup (p.Ile310_Lys311insGlyLeuValArgTer) Duplication Pathogenic 226335 rs875989908 GRCh37: 19:11218155-11218156
GRCh38: 19:11107479-11107480
20 LDLR NM_000527.4(LDLR):c.941-?_1186+?dup Duplication Pathogenic 226400 GRCh37: 19:11221327-11222316
GRCh38:
21 LDLR NM_000527.4(LDLR):c.1846-?_2140+?dup Duplication Pathogenic 226403 GRCh37: 19:11230767-11231199
GRCh38:
22 LDLR NM_000527.4(LDLR):c.2344A>T (p.Lys782Ter) SNV Pathogenic 226392 rs875989943 GRCh37: 19:11238716-11238716
GRCh38: 19:11128040-11128040
23 LDLR NM_000527.4(LDLR):c.1469G>T (p.Trp490Leu) SNV Pathogenic 226358 rs875989922 GRCh37: 19:11224321-11224321
GRCh38: 19:11113645-11113645
24 LDLR NM_000527.5(LDLR):c.82G>T (p.Glu28Ter) SNV Pathogenic 226305 rs551747280 GRCh37: 19:11210913-11210913
GRCh38: 19:11100237-11100237
25 LDLR NM_000527.4(LDLR):c.191-?_1186+?dup Duplication Pathogenic 226404 GRCh37: 19:11213339-11222316
GRCh38:
26 LDLR NM_000527.5(LDLR):c.253C>T (p.Gln85Ter) SNV Pathogenic 226311 rs875989893 GRCh37: 19:11213402-11213402
GRCh38: 19:11102726-11102726
27 LDLR NM_000527.5(LDLR):c.1469G>A (p.Trp490Ter) SNV Pathogenic 226357 rs875989922 GRCh37: 19:11224321-11224321
GRCh38: 19:11113645-11113645
28 LDLR NM_000527.5(LDLR):c.790_793del (p.Met264fs) Deletion Pathogenic 251452 rs879254675 GRCh37: 19:11217336-11217339
GRCh38: 19:11106660-11106663
29 LDLR NM_000527.5(LDLR):c.583_589del (p.Ser195fs) Deletion Pathogenic 251306 rs879254582 GRCh37: 19:11216165-11216171
GRCh38: 19:11105488-11105494
30 LDLR c.(2311+1_2312-1)_(2547+1_2548-1)dup Duplication Pathogenic 252281 GRCh37: 19:11234021-11241956
GRCh38:
31 LDLR NM_000527.5(LDLR):c.2133C>A (p.Cys711Ter) SNV Pathogenic 252232 rs879255146 GRCh37: 19:11231191-11231191
GRCh38: 19:11120515-11120515
32 LDLR NM_000527.4(LDLR):c.1067del (p.Asp356fs) Deletion Pathogenic 251646 rs879254778 GRCh37: 19:11222196-11222196
GRCh38: 19:11111520-11111520
33 LDLR NM_000527.4(LDLR):c.890del (p.Asn297fs) Deletion Pathogenic 251506 rs879254710 GRCh37: 19:11218139-11218139
GRCh38: 19:11107463-11107463
34 LDLR NM_000527.4(LDLR):c.1789del (p.Thr597fs) Deletion Pathogenic 252031 rs879255022 GRCh37: 19:11227618-11227618
GRCh38: 19:11116942-11116942
35 LDLR NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter) SNV Pathogenic 251688 rs879254805 GRCh37: 19:11222279-11222279
GRCh38: 19:11111603-11111603
36 LDLR c.(940+1_941-1)_(1586+1_1587-1)dup Duplication Pathogenic 251558 GRCh37: 19:11218191-11226769
GRCh38:
37 LDLR NM_000527.5(LDLR):c.2055_2067del (p.Gln686fs) Deletion Pathogenic 252196 rs879255123 GRCh37: 19:11231113-11231125
GRCh38: 19:11120433-11120445
38 LDLR NM_000527.5(LDLR):c.2050_2063del (p.Ala684fs) Deletion Pathogenic 252191 rs879255121 GRCh37: 19:11231108-11231121
GRCh38: 19:11120432-11120445
39 LDLR NM_000527.5(LDLR):c.760C>T (p.Gln254Ter) SNV Pathogenic 251436 rs759109699 GRCh37: 19:11217306-11217306
GRCh38: 19:11106630-11106630
40 LDLR NM_000527.4(LDLR):c.2175del (p.Thr726fs) Deletion Pathogenic 252247 rs879255155 GRCh37: 19:11233883-11233883
GRCh38: 19:11123207-11123207
41 LDLR NM_000527.4(LDLR):c.1042del (p.Ala348fs) Deletion Pathogenic 251610 rs879254764 GRCh37: 19:11221428-11221428
GRCh38: 19:11110752-11110752
42 LDLR NM_000527.4(LDLR):c.1752del (p.Ile585fs) Deletion Pathogenic 252016 rs879255011 GRCh37: 19:11227580-11227580
GRCh38: 19:11116904-11116904
43 LDLR NM_000527.5(LDLR):c.260G>A (p.Trp87Ter) SNV Pathogenic 251098 rs879254452 GRCh37: 19:11213409-11213409
GRCh38: 19:11102733-11102733
44 LDLR NM_000527.5(LDLR):c.1377_1380del (p.His460fs) Deletion Pathogenic 251820 rs879254885 GRCh37: 19:11224229-11224232
GRCh38: 19:11113552-11113555
45 LDLR NM_000527.4(LDLR):c.968del (p.Gly323fs) Deletion Pathogenic 251576 rs879254743 GRCh37: 19:11221354-11221354
GRCh38: 19:11110678-11110678
46 LDLR NM_000527.5(LDLR):c.1132C>T (p.Gln378Ter) SNV Pathogenic 251683 rs879254802 GRCh37: 19:11222261-11222261
GRCh38: 19:11111585-11111585
47 LDLR NM_000527.5(LDLR):c.2264_2273del (p.Ala755fs) Deletion Pathogenic 252263 rs879255168 GRCh37: 19:11233973-11233982
GRCh38: 19:11123295-11123304
48 LDLR NM_000527.4(LDLR):c.1936del (p.Leu646fs) Deletion Pathogenic 252119 rs879255078 GRCh37: 19:11230857-11230857
GRCh38: 19:11120181-11120181
49 LDLR NM_000527.5(LDLR):c.1104C>A (p.Cys368Ter) SNV Pathogenic 251667 rs113669610 GRCh37: 19:11222233-11222233
GRCh38: 19:11111557-11111557
50 LDLR NM_000527.5(LDLR):c.1014C>A (p.Cys338Ter) SNV Pathogenic 251596 rs879254755 GRCh37: 19:11221401-11221401
GRCh38: 19:11110725-11110725

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 PCSK9 MIR6886 LIPC LDLRAP1 LDLR HMGCR
2
Show member pathways
12.54 MIR6886 LDLR APOE APOB APOA2 APOA1
3
Show member pathways
12.27 PCSK9 MIR6886 LIPC LDLRAP1 LDLR APOE
4
Show member pathways
12.2 MIR6886 LDLRAP1 LDLR APOB
5
Show member pathways
12.18 MIR6886 LDLR APOE APOB APOA1 ABCA1
6
Show member pathways
12.13 MIR6886 LDLR APOE APOB APOA2 APOA1
7 11.75 LDLR HMGCR ABCG8 ABCG5
8
Show member pathways
11.73 APOE APOB APOA1
9 11.55 MIR6886 LDLR HMGCR
10
Show member pathways
11.51 PCSK9 MIR6886 LIPC LDLRAP1 LDLR HMGCR
11
Show member pathways
11.22 APOB APOA1 ABCG8 ABCG5 ABCA1
12 10.93 APOA2 APOA1 ABCA1
13 10.84 MIR6886 LDLR HMGCR ABCA1
14
Show member pathways
10.36 PCSK9 MIR6886 LDLR

GO Terms for Homozygous Familial Hypercholesterolemia

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.96 PCSK9 LDLR GHR APOA1 ABCA1
2 endoplasmic reticulum lumen GO:0005788 9.88 PCSK9 LIPC APOE APOB APOA2 APOA1
3 receptor complex GO:0043235 9.84 LDLR GHR ABCG8 ABCG5
4 early endosome GO:0005769 9.8 PCSK9 LDLRAP1 LDLR APOE APOB APOA2
5 clathrin-coated endocytic vesicle membrane GO:0030669 9.65 LDLR APOE APOB
6 very-low-density lipoprotein particle GO:0034361 9.62 APOE APOB APOA2 APOA1
7 endocytic vesicle lumen GO:0071682 9.61 APOE APOB APOA1
8 endolysosome membrane GO:0036020 9.55 PCSK9 LDLR
9 intermediate-density lipoprotein particle GO:0034363 9.54 APOE APOB APOA1
10 spherical high-density lipoprotein particle GO:0034366 9.52 APOA2 APOA1
11 ATP-binding cassette (ABC) transporter complex GO:0043190 9.51 ABCG8 ABCG5
12 discoidal high-density lipoprotein particle GO:0034365 9.49 APOE APOA1
13 PCSK9-LDLR complex GO:1990666 9.46 PCSK9 LDLR
14 low-density lipoprotein particle GO:0034362 9.46 LDLR APOE APOB APOA1
15 chylomicron GO:0042627 9.26 APOE APOB APOA2 APOA1
16 high-density lipoprotein particle GO:0034364 9.02 LIPC APOE APOB APOA2 APOA1

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

(show top 50) (show all 59)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.19 PCSK9 LIPC LDLRAP1 LDLR HMGCR EPHX2
2 post-translational protein modification GO:0043687 10.1 PCSK9 APOE APOB APOA2 APOA1
3 cellular protein metabolic process GO:0044267 10.06 PCSK9 APOE APOB APOA2 APOA1
4 receptor-mediated endocytosis GO:0006898 10.04 LDLRAP1 LDLR APOE APOB APOA1
5 lipid transport GO:0006869 10.03 LDLR APOE APOB APOA2 APOA1 ABCG8
6 response to drug GO:0042493 10.02 APOA1 ABCG8 ABCG5 ABCA1
7 steroid metabolic process GO:0008202 10.01 PCSK9 LDLRAP1 LDLR HMGCR APOE APOB
8 response to nutrient GO:0007584 10 HMGCR APOA1 ABCG8 ABCG5 ABCA1
9 regulation of lipid metabolic process GO:0019216 9.97 HMGCR APOA2 APOA1 ABCA1
10 response to nutrient levels GO:0031667 9.96 HMGCR ABCG8 ABCG5 ABCA1
11 retinoid metabolic process GO:0001523 9.95 APOE APOB APOA2 APOA1
12 triglyceride homeostasis GO:0070328 9.93 LIPC HMGCR APOE APOA1 ABCG8 ABCG5
13 phospholipid transport GO:0015914 9.92 LDLR APOA1 ABCG8 ABCA1
14 intermembrane lipid transfer GO:0120009 9.91 APOE APOB APOA2 APOA1 ABCG8 ABCG5
15 low-density lipoprotein particle clearance GO:0034383 9.9 PCSK9 LDLRAP1 LDLR APOB
16 high-density lipoprotein particle remodeling GO:0034375 9.89 LIPC APOE APOA2 APOA1
17 low-density lipoprotein particle remodeling GO:0034374 9.88 LIPC APOE APOB APOA2
18 high-density lipoprotein particle assembly GO:0034380 9.88 APOE APOA2 APOA1 ABCA1
19 reverse cholesterol transport GO:0043691 9.88 LIPC APOE APOA2 APOA1 ABCA1
20 triglyceride metabolic process GO:0006641 9.87 PCSK9 APOE APOA2
21 phospholipid efflux GO:0033700 9.87 APOE APOA2 APOA1 ABCA1
22 lipoprotein metabolic process GO:0042157 9.87 PCSK9 LDLR APOE APOB APOA2 APOA1
23 chylomicron assembly GO:0034378 9.86 APOE APOB APOA2 APOA1
24 artery morphogenesis GO:0048844 9.85 LDLR APOE APOB
25 high-density lipoprotein particle clearance GO:0034384 9.85 LDLR APOE APOA2 APOA1
26 positive regulation of cholesterol efflux GO:0010875 9.84 APOE APOA1 ABCA1
27 chylomicron remodeling GO:0034371 9.84 APOE APOB APOA2 APOA1
28 regulation of cholesterol metabolic process GO:0090181 9.83 LDLR EPHX2 APOE
29 chylomicron remnant clearance GO:0034382 9.83 LIPC LDLR APOE APOB
30 bile acid signaling pathway GO:0038183 9.82 HMGCR ABCG8 ABCG5
31 intestinal cholesterol absorption GO:0030299 9.81 LDLR ABCG8 ABCG5
32 very-low-density lipoprotein particle remodeling GO:0034372 9.81 LIPC APOE APOA1
33 lipoprotein biosynthetic process GO:0042158 9.81 APOE APOB APOA1 ABCA1
34 positive regulation of cholesterol esterification GO:0010873 9.8 APOE APOA2 APOA1
35 cholesterol efflux GO:0033344 9.8 APOE APOB APOA2 APOA1 ABCG8 ABCG5
36 regulation of Cdc42 protein signal transduction GO:0032489 9.79 APOE APOA1 ABCA1
37 lipoprotein catabolic process GO:0042159 9.79 LDLR APOE APOB
38 sterol transport GO:0015918 9.73 ABCG8 ABCG5
39 positive regulation of lipid biosynthetic process GO:0046889 9.72 APOE APOA1
40 phospholipid homeostasis GO:0055091 9.72 APOA1 ABCA1
41 negative regulation of amyloid fibril formation GO:1905907 9.72 LDLR APOE
42 regulation of protein metabolic process GO:0051246 9.72 LDLR APOE
43 amyloid precursor protein metabolic process GO:0042982 9.71 LDLRAP1 APOE
44 cholesterol import GO:0070508 9.71 LDLR APOA1
45 very-low-density lipoprotein particle clearance GO:0034447 9.71 APOE APOB
46 peptidyl-methionine modification GO:0018206 9.71 APOA2 APOA1
47 negative regulation of cytokine production involved in immune response GO:0002719 9.71 APOA2 APOA1
48 protein oxidation GO:0018158 9.7 APOA2 APOA1
49 positive regulation of phospholipid efflux GO:1902995 9.7 APOE APOA1
50 negative regulation of lipase activity GO:0060192 9.7 APOA2 APOA1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.88 SMARCA4 ABCG8 ABCG5 ABCA1
2 amyloid-beta binding GO:0001540 9.78 LDLRAP1 LDLR APOE APOA1
3 phospholipid binding GO:0005543 9.77 STAP1 APOE APOB APOA2 APOA1
4 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.72 ABCG8 ABCG5 ABCA1
5 cholesterol binding GO:0015485 9.71 APOA2 APOA1 ABCA1
6 phosphatidylcholine binding GO:0031210 9.67 APOA2 APOA1 ABCA1
7 high-density lipoprotein particle binding GO:0008035 9.63 APOA2 APOA1 ABCA1
8 apolipoprotein binding GO:0034185 9.61 PCSK9 LIPC ABCA1
9 low-density lipoprotein particle binding GO:0030169 9.58 PCSK9 LIPC LDLR
10 lipoprotein particle binding GO:0071813 9.57 APOE APOA1
11 lipase inhibitor activity GO:0055102 9.56 APOA2 APOA1
12 low-density lipoprotein particle receptor binding GO:0050750 9.56 PCSK9 LDLRAP1 APOE APOB
13 very-low-density lipoprotein particle receptor binding GO:0070326 9.52 PCSK9 APOE
14 high-density lipoprotein particle receptor binding GO:0070653 9.51 APOA2 APOA1
15 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.5 APOE APOA2 APOA1
16 lipid transporter activity GO:0005319 9.35 APOE APOB APOA2 APOA1 ABCA1
17 apolipoprotein receptor binding GO:0034190 9.33 PCSK9 APOA2 APOA1
18 intermembrane cholesterol transfer activity GO:0120020 9.17 APOE APOB APOA2 APOA1 ABCG8 ABCG5

Sources for Homozygous Familial Hypercholesterolemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....