MCID: FML035
MIFTS: 47

Familial Hyperlipidemia

Categories: Metabolic diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Familial Hyperlipidemia

MalaCards integrated aliases for Familial Hyperlipidemia:

Name: Familial Hyperlipidemia 12 14 69
Familial Hyperlipoproteinemia 12 52 69
Hyperlipoproteinemias 42 69
Hyperlipidaemia 12
Hyperlipidemias 42
Hyperlipidemia 69
Hyperlipemia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1168
ICD10 33 E78.5

Summaries for Familial Hyperlipidemia

MalaCards based summary : Familial Hyperlipidemia, also known as familial hyperlipoproteinemia, is related to hyperlipidemia, familial combined and hyperchylomicronemia, late-onset. An important gene associated with Familial Hyperlipidemia is APOB (Apolipoprotein B), and among its related pathways/superpathways are Metabolism and Vesicle-mediated transport. The drugs Fenofibrate and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and bone, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

Related Diseases for Familial Hyperlipidemia

Diseases in the Familial Hyperlipidemia family:

Hyperlipidemia Type 3

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

(show top 50) (show all 76)
id Related Disease Score Top Affiliating Genes
1 hyperlipidemia, familial combined 28.1 APOA1 APOB APOC3 APOE CETP COG2
2 hyperchylomicronemia, late-onset 27.6 APOA1 APOB APOC2 APOC3 APOE CETP
3 hyperlipoproteinemia, type iii 11.1
4 familial lipoprotein lipase deficiency 10.8
5 hypercholesterolemia, familial 10.7
6 xk aprosencephaly 10.6 APOB APOE
7 epilepsy, familial focal, with variable foci 3 10.6 LIPC LPL
8 hypercholesterolemia, due to ligand-defective apo b 10.5 APOB APOE LDLR
9 aquagenic syringeal acrokeratoderm 10.5 APOA1 LCAT
10 otospondylomegaepiphyseal dysplasia 10.4 APOA1 APOB SERPINE1
11 pars planitis 10.4 APOA1 APOE
12 legg-calve-perthes disease 10.4 APOA1 APOB
13 hemochromatosis, type 5 10.3 APOE HMGCR LDLR
14 lipoprotein glomerulopathy 10.3 APOE LCAT
15 islet cell tumor 10.3 APOA1 APOB APOE LPL
16 cirrhotic cardiomyopathy 10.3 APOE LPL
17 familial osteochondritis dissecans 10.2 APOA1 APOE LCAT
18 amelogenesis imperfecta, type iia3 10.2 APOA1 APOE LIPC LPL
19 migraine with or without aura 1 10.2 APOA1 APOB APOE LPA
20 short stature, brachydactyly, intellectual developmental disability, and seizures 10.2 APOA1 LCAT
21 amyloidosis nodular localized cutaneous 10.1 APOA1 LCAT LPA
22 dental anomalies and short stature 10.1 APOA1 APOB HMGCR LPA
23 abducens nerve neoplasm 10.1 APOB APOC2 LIPC LPL
24 angina pectoris 10.1 APOA1 APOB LPA SERPINE1
25 inherited metabolic disorder 10.1 APOB INS SERPINE1
26 hypobetalipoproteinemia 10.0 APOB APOE LCAT LDLR
27 arthritis 10.0 APOE CETP LDLR LPA
28 exostosis 9.9 APOB INS SERPINE1
29 immunodeficiency 19 9.9 APOC2 APOE INS LPL
30 melorheostosis 9.8 APOA1 APOB APOE CETP SERPINE1
31 macular degeneration, age-related, 1 9.8 APOB APOE CETP LIPC
32 atopic dermatitis 3 9.8 APOC3 LPA
33 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency 9.8 APOB APOE HMGCR LCAT LDLR
34 hyperlipoproteinemia type iv 9.8 APOB COG2 INS
35 fetal parvovirus syndrome 9.8 APOA1 APOB INS LCAT
36 mental retardation, autosomal dominant 45 9.7 APOB APOE LCAT LDLR LPA
37 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 9.7 APOB APOE HMGCR LDLR LIPC LPL
38 heart disease 9.7
39 malignant fibrous histiocytoma of bone 9.7 APOB APOE HMGCR LDLR LPA LPL
40 pontocerebellar hypoplasia 9.6 APOA1 APOB APOE CETP INS
41 ovarian clear cell malignant adenofibroma 9.6 APOA1 APOB COG2 INS
42 glossopharyngeal nerve disease 9.6 APOA1 APOB APOE COG2 LPA
43 glycogen storage disease 9.6
44 nephrotic syndrome 9.6
45 pyloric stenosis 9.6
46 hypertriglyceridemia 9.6
47 bird fancier's lung 9.5 APOA1 APOB APOE LCAT LPA LPL
48 intramuscular hemangioma 9.5 APOC3 INS LPL
49 malignant type ab thymoma 9.5 APOA1 APOB APOE INS LDLR SERPINE1
50 wolfram syndrome 2 9.5 APOA1 APOB APOE CETP LCAT LPL

Graphical network of the top 20 diseases related to Familial Hyperlipidemia:



Diseases related to Familial Hyperlipidemia

Symptoms & Phenotypes for Familial Hyperlipidemia

GenomeRNAi Phenotypes related to Familial Hyperlipidemia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.65 APOA1 APOB APOC3 APOE CETP HMGCR
2 Increased LDL uptake GR00340-A-1 8.92 APOA1 APOE LDLR LPL

MGI Mouse Phenotypes related to Familial Hyperlipidemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 APOA1 APOB APOC2 APOE COG2 HMGCR
2 cardiovascular system MP:0005385 9.91 APOA1 APOB APOE INS LCAT LDLR
3 adipose tissue MP:0005375 9.8 APOE INS LDLR LPL PPARA SERPINE1
4 integument MP:0010771 9.5 APOA1 APOE INS LDLR LPL PPARA
5 liver/biliary system MP:0005370 9.32 APOA1 APOB APOE HMGCR INS LCAT

Drugs & Therapeutics for Familial Hyperlipidemia

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

(show top 50) (show all 142)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fenofibrate Approved Phase 4,Phase 3,Phase 2 49562-28-9 3339
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3 22916-47-8 4189
3
Ezetimibe Approved Phase 4,Phase 3,Phase 2 163222-33-1 150311
4
Simvastatin Approved Phase 4,Phase 3,Phase 2 79902-63-9 54454
5
Probucol Approved Phase 4 23288-49-5 4912
6
Coal tar Approved Phase 4 8007-45-2
7
Lovastatin Approved, Investigational Phase 4,Phase 2 75330-75-5 53232
8
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
9
Aspirin Approved, Vet_approved Phase 4,Phase 1 50-78-2 2244
10
Atenolol Approved Phase 4 29122-68-7 2249
11
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
12
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
13
Propranolol Approved, Investigational Phase 4 525-66-6 4946
14
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 59-30-3 6037
15
Niacin Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 59-67-6 938
16
Nicotinamide Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 98-92-0 936
17 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
19 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1
20 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
21 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Phase 1
22 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Phase 1
23 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1
24 Nicotinic Acids Phase 4,Phase 3,Phase 2,Phase 1
25 Rosuvastatin Calcium Phase 4,Phase 3,Phase 2 147098-20-2
26 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1
27 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1
28 Vitamin B Complex Phase 4,Phase 3,Phase 1,Phase 2
29 Vitamins Phase 4,Phase 3,Phase 1,Phase 2
30 Dermatologic Agents Phase 4,Phase 2,Phase 3,Phase 1
31 Colesevelam Hydrochloride Phase 4
32 Antioxidants Phase 4
33 Protective Agents Phase 4,Phase 2,Phase 3
34 Keratolytic Agents Phase 4
35 Dihydromevinolin Phase 4,Phase 2
36 L 647318 Phase 4,Phase 2
37 calcium heparin Phase 4
38 Adrenergic Agents Phase 4
39 Adrenergic Antagonists Phase 4
40 Adrenergic beta-Antagonists Phase 4
41 Angiotensin-Converting Enzyme Inhibitors Phase 4
42 HIV Protease Inhibitors Phase 4
43 Neurotransmitter Agents Phase 4,Phase 1
44 Platelet Aggregation Inhibitors Phase 4,Phase 1
45
protease inhibitors Phase 4
46 Antibodies Phase 4,Phase 3,Phase 2
47 Antibodies, Monoclonal Phase 4,Phase 3,Phase 2
48 Immunoglobulins Phase 4,Phase 3,Phase 2
49 Ezetimibe, Simvastatin Drug Combination Phase 4,Phase 3
50 Folate Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 203)

id Name Status NCT ID Phase Drugs
1 Comparison of High-Dose Rosuvastatin Versus Low Statin Dose Plus Fenofibrate Versus Low Statin Dose Plus Niacin in the Treatment of Mixed Hyperlipidemia Unknown status NCT01010516 Phase 4 High-dose rosuvastatin;Statin plus fenofibrate;Statin plus niacin ER/laropiprant
2 Study to Compare Welchol and TriCor to TriCor Alone in Patients With High Cholesterol Completed NCT00754039 Phase 4 colesevelam HCl tablets and fenofibrate tablets;fenofibrate tablets and Welchol placebo tablets;fenofibrate tablets and Welchol placebo tablets
3 Study on the Efficacy and Safety of Oral Probucol Tablets in Patients With Hyperlipidemia - Post-Marketing Surveillance Completed NCT02730390 Phase 4
4 Integrating Family Medicine and Pharmacy to Advance Primary Care Therapeutics Completed NCT00157638 Phase 4 optimizing therapeutic treatments
5 Efficacy Study of Extended-Release Niacin/Lovastatin Versus Usual Care Completed NCT00345657 Phase 4 Niacin Extended Release/Lovastatin
6 A Study of the Safety and Efficacy of Patients With Familial Hypercholesterolaemia Taking Colesevelam as add-on Therapy to Their Existing Medication Completed NCT00655265 Phase 4 Colesevelam hydrochloride film-coated tablets;Placebo
7 Low-Density Lipoprotein (LDL) Apheresis Using H.E.L.P. Therapy Completed NCT00916643 Phase 4
8 Efficacy and Safety of Colesevelam in Pediatric Patients With Genetic High Cholesterol Completed NCT00145574 Phase 4 colesevelam HCl;placebo
9 Reducing Total Cardiovascular Risk in an Urban Community Completed NCT00241904 Phase 4 Antiplatelet Agents;Beta Blocker;ACE Inhibitors
10 Evaluating Effect of the Study Drug Praluent (Alirocumab) on Neurocognitive Function When Compared to Placebo Recruiting NCT02957682 Phase 4 Praluent (Alirocumab);Placebo
11 Efficacy of Ezetimibe/Simvastatin 10/20 mg and MK0524A (1-2 g/Day) in Mixed Hyperlipidemia and Two or More Risk Factors Withdrawn NCT00738985 Phase 4 ezetimibe/simvastatin 10/20 mg + placebo;ezetimibe/simvastatin 10/20 mg + MK0524A
12 Efficacy Study of Daily Pro-Omega LDL for Low-Density Lipoprotein Cholesterol and Triglyceride Reduction Withdrawn NCT02069106 Phase 4
13 Phase 3 Study to Evaluate the Efficacy and Safety of Omega-3-acids Ethylesters 90 in Type Ⅱb Hyperlipidemia Unknown status NCT02035215 Phase 3 Atorvastatin 20mg;Omega-3-acids ethylesters 90 4g
14 Cardiovascular Health And Risk Modification in Family Health Teams Unknown status NCT00787306 Phase 3
15 Effect of Omega-3 Fatty Acid on Endothelial Function Unknown status NCT01813006 Phase 3 Omega-3;placebo
16 Efficacy and Safety of Lomitapide in Japanese Patients With HoFH on Concurrent Lipid-Lowering Therapy Unknown status NCT02173158 Phase 3 lomitapide
17 Safety and Efficacy in LPL-Deficient Subjects of AMT-011, an Adeno-Associated Viral Vector Expressing Human Lipoprotein Lipase [S447X] Unknown status NCT01109498 Phase 2, Phase 3 Mycophenolate mofetil;cyclosporine
18 Efficacy and Safety of Fenofibrate Added on to Atorvastatin Compared With Atorvastatin Unknown status NCT01956201 Phase 3 Atorvastatin 20mg;Fenofibrate 160mg
19 A Randomized, Double-blind, Placebo Controlled Study to Assess Efficacy, Safety and Tolerability of LCQ908 in Subjects With Familial Chylomicronemia Syndrome Completed NCT01514461 Phase 3 LCQ908;Placebo
20 Reduction of LDL-C With PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder Study-2 Completed NCT01763918 Phase 3 Placebo
21 Study To Evaluate The Safety And Efficacy Of Torcetrapib/Atorvastatin In Subjects With Familial Hypercholerolemia Completed NCT00134485 Phase 3 torcetrapib/atorvastatin;atorvastatin
22 Carotid B-Mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrpib/Atorvastatin to Atorvastatin Alone. Completed NCT00136981 Phase 3 torcetrapib/atorvastatin;atorvastatin
23 A Study to Evaluate the Safety of Rosuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia Completed NCT02434497 Phase 3 Rosuvastatin 20mg
24 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
25 Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia Completed NCT00607373 Phase 3 mipomersen;Placebo
26 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
27 An Study to Evaluate Rosuvastatin in Children and Adolescents With Familial Hypercholesterolaemia Completed NCT01078675 Phase 3 rosuvastatin calcium;rosuvastatin calcium;rosuvastatin calcium
28 A 52 Week Study To Assess The Use Of Bococizumab (PF-04950615; RN316) In Subjects With Heterozygous Familial Hypercholesterolemia Completed NCT01968980 Phase 3 Bococizumab (PF-04950615;RN316)
29 Long Term, Follow-on Study of Lomitapide in Patients With Homozygous Familial Hypercholesterolemia Completed NCT00943306 Phase 3 lomitapide
30 The APPROACH Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Patients With Familial Chylomicronemia Syndrome Completed NCT02211209 Phase 3 volanesorsen;Placebo
31 Study of Alirocumab (REGN727/SAR236553) in Patients With heFH (Heterozygous Familial Hypercholesterolemia) Who Are Not Adequately Controlled With Their LMT (Lipid-Modifying Therapy) Completed NCT01709500 Phase 3 LMT (atorvastatin, simvastatin, or rosuvastatin);alirocumab;Placebo
32 A Study of the Safety and Efficacy of Anacetrapib (MK-0859) When Added to Ongoing Statin Therapy in Japanese Participants With Heterozygous Familial Hypercholesterolemia (MK-0859-050) Completed NCT01824238 Phase 3 Anacetrapib;Placebo for anacetrapib
33 Atorvastatin Three Year Pediatric Study Completed NCT00827606 Phase 3 atorvastatin
34 Trial Evaluating PCSK9 Antibody in Subjects With LDL Receptor Abnormalities Completed NCT01588496 Phase 2, Phase 3 Placebo
35 A Study of the Safety and Efficacy of Two Different Regimens of Mipomersen in Patients With Familial Hypercholesterolemia and Inadequately Controlled Low-Density Lipoprotein Cholesterol Completed NCT01475825 Phase 3 mipomersen sodium 200 mg;Placebo;mipomersen sodium 70 mg
36 A Safety and Efficacy Study of AEGR-733 to Treat Homozygous Familial Hypercholesterolemia (FH) Completed NCT00730236 Phase 3 AEGR-733
37 Study of Alirocumab (REGN727/SAR236553) in Patients With Heterozygous Familial Hypercholesterolemia (HeFH) Undergoing Low-density Lipoprotein (LDL) Apheresis Therapy Completed NCT02326220 Phase 3 Alirocumab;Placebo
38 PLUTO: Pediatric Lipid-redUction Trial of rOsuvastatin Completed NCT00355615 Phase 3 Rosuvastatin;Placebo
39 Effect of Ezetimibe Plus Simvastatin Versus Simvastatin Alone on Atherosclerosis in the Carotid Artery (ENHANCE)(P02578) Completed NCT00552097 Phase 3 ezetimibe (plus simvastatin);placebo (plus simvastatin)
40 Efficacy and Safety of Fluvastatin in Children With Heterozygous Familial Hypercholesterolemia Completed NCT00171236 Phase 3 Fluvastatin
41 Efficacy and Safety Evaluation of Alirocumab in Patients With Heterozygous Familial Hypercholesterolemia or High Cardiovascular Risk Patients With Hypercholesterolemia on Lipid Modifying Therapy (ODYSSEY JAPAN) Completed NCT02107898 Phase 3 Placebo (for alirocumab);Alirocumab;Lipid-Modifying Therapy (LMT)
42 Study To Evaluate The Effect Of Torcetrapib/Atorvastatin In Patients With Genetic High Cholesterol Disorder Completed NCT00134511 Phase 3 Torcetrapib/atorvastatin
43 Efficacy and Safety of Alirocumab (SAR236553/REGN727) Versus Placebo on Top of Lipid-Modifying Therapy in Patients With Heterozygous Familial Hypercholesterolemia (ODYSSEY HIGH FH) Completed NCT01617655 Phase 3 Alirocumab;Placebo (for alirocumab);Lipid Modifying Therapy (LMT)
44 Efficacy and Safety of Alirocumab (SAR236553/REGN727) Versus Placebo on Top of Lipid-Modifying Therapy in Patients With Heterozygous Familial Hypercholesterolemia Not Adequately Controlled With Their Lipid-Modifying Therapy Completed NCT01623115 Phase 3 Alirocumab;Placebo (for alirocumab);Lipid Modifying Therapy (LMT)
45 Efficacy and Safety of Human Lipoprotein Lipase (LPL)[S447X] Expressed by an Adeno-Associated Viral Vector in LPL-deficient Subjects Completed NCT00891306 Phase 2, Phase 3 mycophenolate mofetil;cyclosporine;methylprednisolone
46 Efficacy and Safety Study of ISIS 301012 (Mipomersen) as Add-on in Familial Hypercholesterolemic Patients With Coronary Artery Disease Completed NCT00706849 Phase 3 mipomersen sodium;placebo
47 To Evaluate Ezetimibe/Simvastatin and Niacin (Extended Release Tablet) in Patients With Type IIa or Type IIb Hyperlipidemia (0653A-091)(COMPLETED) Completed NCT00271817 Phase 3 Comparator: ezetimibe/simvastatin + niacin (ER);Comparator: Placebo to ezetimibe/simvastatin;Comparator: niacin (ER) tablet;Comparator: ezetimibe (+) simvastatin;Comparator: Placebo to Niacin (ER);Comparator: ezetimibe/simvastatin and niacin (ER);Comparator: ezetimibe and simvastatin;Comparator: Placebo to niacin (ER)
48 Flaxseed Compared With Placebo in Patients With Hypercholesterolemia Completed NCT01007344 Phase 3
49 Lipid Efficacy and Safety in Participants With Mixed Hyperlipidemia (MK-0524B-024) Completed NCT00289900 Phase 3 MK-0524A;Atorvastatin;Simvastatin
50 A Clinical Trial to Assess the Long Term Safety and Tolerability of MK-0653C in Japanese Participants With Hypercholesterolemia (MK-0653C-384) Completed NCT02460159 Phase 3 EZ 10 mg/Atorva 20 mg FDC;EZ 10 mg/Atorva 10 mg FDC

Search NIH Clinical Center for Familial Hyperlipidemia

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: hyperlipidemias

Genetic Tests for Familial Hyperlipidemia

Anatomical Context for Familial Hyperlipidemia

MalaCards organs/tissues related to Familial Hyperlipidemia:

39
Liver, Heart, Bone, Endothelial, Testes, Bone Marrow

Publications for Familial Hyperlipidemia

Articles related to Familial Hyperlipidemia:

(show all 24)
id Title Authors Year
1
Comparison of carotid intima-media thickness in pediatric patients with metabolic syndrome, heterozygous familial hyperlipidemia and normals. ( 24955251 )
2014
2
Stress perfusion-fibrosis cardiac magnetic resonance detects early heart involvement in young asymptomatic, homozygous familial hyperlipidemia with normal routine non-invasive evaluation. ( 23896536 )
2013
3
Novel pharmacotherapies of familial hyperlipidemia. ( 23639874 )
2013
4
An infant with milky blood : an unusual but treatable case of familial hyperlipidemia. ( 24426212 )
2013
5
Low-density lipoprotein cholesterol, apolipoprotein B, and risk of coronary heart disease: from familial hyperlipidemia to genomics. ( 22531366 )
2013
6
Supravalvular aortic stenosis secondary to severe lipid accumulation in the ascending aorta in a patient with uncontrolled familial hyperlipidemia. ( 21918328 )
2011
7
Diffuse involvement of aorta in patient with familial hyperlipidemia. ( 22347657 )
2011
8
Antihyperlipidemic agents cause a decrease in von Willebrand factor levels in pediatric patients with familial hyperlipidemia. ( 21073119 )
2010
9
Pregnancy-induced severe gestational hyperlipidemia mimicking familial hyperlipidemia. ( 17097797 )
2008
10
Association between physical activity, adiposity, and lipid abnormalities in children with familial hyperlipidemia. ( 17301628 )
2007
11
[Apolipoprotein B is associated with metabolic syndrome in Chinese pedigrees with familial hyperlipidemia]. ( 15854507 )
2005
12
Micro- and macrocirculatory effects of apheresis in patients with familial hyperlipidemia. ( 12921126 )
2003
13
A randomized crossover trial of combination pharmacologic therapy in children with familial hyperlipidemia. ( 12032266 )
2002
14
[Hypertriglyceridemia and plasma insulin in combined familial hyperlipidemia]. ( 9547191 )
1997
15
Atypical pyloric stenosis in an infant with familial hyperlipidemia. ( 8657477 )
1996
16
MR imaging of Achilles tendon in patients with familial hyperlipidemia: comparison with plain films, physical examination, and patients with traumatic tendon lesions. ( 7839978 )
1995
17
Adult cardiologists or hyperlipidemia experts have advocated no screening and no treatment for children with familial hyperlipidemia. ( 8435922 )
1993
18
Frequency and role of apo E phenotype in familial hypercholesterolemia and non-familial hyperlipidemia in the Japanese. ( 2375785 )
1990
19
Familial hyperlipidemia in stroke in the young. ( 3810712 )
1986
20
Familial hyperlipidemia in coronary atherosclerotic heart disease. ( 6619068 )
1983
21
Changes of serum total cholesterol and triglyceride levels in normal subjects in Japan in the past twenty years. Research committee on familial hyperlipidemia in Japan. ( 6655789 )
1983
22
Antithrombin functional activity after a fatty meal in normal subjects, familial hyperlipidemia, and nephrotic syndrome. ( 578151 )
1977
23
Glycogen storage disease previously reported as familial hyperlipidemia. ( 5215216 )
1965
24
THIN-LAYER CHROMATOGRAPHIC ANALYSIS OF PLASMA PHOSPHOLIPIDS IN ESSENTIAL FAMILIAL HYPERLIPIDEMIA. ( 14226394 )
1964

Variations for Familial Hyperlipidemia

Expression for Familial Hyperlipidemia

Search GEO for disease gene expression data for Familial Hyperlipidemia.

Pathways for Familial Hyperlipidemia

Pathways related to Familial Hyperlipidemia according to GeneCards Suite gene sharing:

(show all 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 APOA1 APOB APOC2 APOC3 APOE CETP
2
Show member pathways
13.11 APOA1 APOB APOE COG2 INS LDLR
3
Show member pathways
12.47 APOA1 APOB APOC2 APOC3 APOE LDLR
4
Show member pathways
12.23 APOA1 APOB APOC2 APOC3 APOE CETP
5
Show member pathways
12.03 APOA1 APOB APOC2 APOC3 APOE LDLR
6 11.9 INS LPL PPARA SERPINE1
7
Show member pathways
11.69 APOA1 APOB APOE
8 11.57 HMGCR INS LDLR LPL
9 11.53 APOA1 APOC3 LPL PPARA
10
Show member pathways
11.2 APOA1 APOB APOC2 APOC3 APOE CETP
11 11.05 APOA1 APOC3 PPARA
12 10.89 APOA1 APOB
13 10.89 HMGCR LDLR PPARA

GO Terms for Familial Hyperlipidemia

Cellular components related to Familial Hyperlipidemia according to GeneCards Suite gene sharing:

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.91 APOA1 APOB APOC2 APOC3 APOE LDLR
2 endoplasmic reticulum lumen GO:0005788 9.89 APOA1 APOB APOE INS LIPC
3 high-density lipoprotein particle GO:0034364 9.73 APOA1 APOC2 APOE CETP LCAT LIPC
4 low-density lipoprotein particle GO:0034362 9.72 APOA1 APOB APOC2 APOE LDLR
5 clathrin-coated endocytic vesicle membrane GO:0030669 9.71 APOB APOE LDLR
6 extracellular matrix GO:0031012 9.7 APOE LPL SERPINE1
7 endocytic vesicle lumen GO:0071682 9.65 APOA1 APOB APOE
8 spherical high-density lipoprotein particle GO:0034366 9.63 APOA1 APOC2 APOC3
9 very-low-density lipoprotein particle GO:0034361 9.63 APOA1 APOB APOC2 APOC3 APOE LPL
10 endosome lumen GO:0031904 9.56 APOB INS
11 intermediate-density lipoprotein particle GO:0034363 9.35 APOA1 APOB APOC2 APOC3 APOE
12 discoidal high-density lipoprotein particle GO:0034365 9.21 APOA1
13 chylomicron GO:0042627 9.1 APOA1 APOB APOC2 APOC3 APOE LPL
14 extracellular exosome GO:0070062 10.2 APOA1 APOB APOC2 APOC3 APOE CETP
15 extracellular region GO:0005576 10.18 APOA1 APOB APOC2 APOC3 APOE CETP
16 extracellular space GO:0005615 10.15 APOA1 APOB APOC2 APOC3 APOE CETP

Biological processes related to Familial Hyperlipidemia according to GeneCards Suite gene sharing:

(show top 50) (show all 63)
id Name GO ID Score Top Affiliating Genes
1 cholesterol transport GO:0030301 9.99 APOA1 APOB CETP LCAT LDLR LIPC
2 cellular protein metabolic process GO:0044267 9.98 APOA1 APOB APOE INS
3 receptor-mediated endocytosis GO:0006898 9.97 APOA1 APOB APOE LDLR
4 cholesterol efflux GO:0033344 9.97 APOA1 APOB APOC2 APOC3 APOE
5 lipoprotein metabolic process GO:0042157 9.97 APOA1 APOB APOC3 APOE LDLR PPARA
6 low-density lipoprotein particle remodeling GO:0034374 9.95 APOB APOE CETP LIPC LPA
7 chylomicron assembly GO:0034378 9.93 APOA1 APOB APOC2 APOC3 APOE
8 triglyceride metabolic process GO:0006641 9.92 APOC3 APOE CETP LPL
9 reverse cholesterol transport GO:0043691 9.91 APOA1 APOC2 APOC3 APOE CETP LCAT
10 negative regulation of inflammatory response GO:0050728 9.89 APOA1 APOE PPARA
11 phospholipid efflux GO:0033700 9.89 APOA1 APOC2 APOC3 APOE
12 regulation of lipid metabolic process GO:0019216 9.88 APOA1 HMGCR PPARA
13 lipoprotein biosynthetic process GO:0042158 9.88 APOA1 APOB APOE LCAT
14 high-density lipoprotein particle remodeling GO:0034375 9.87 APOA1 APOC2 APOC3 APOE CETP LCAT
15 phospholipid metabolic process GO:0006644 9.86 APOA1 LCAT LPL
16 positive regulation of inflammatory response GO:0050729 9.85 LDLR LPL SERPINE1
17 phospholipid transport GO:0015914 9.81 APOA1 CETP LDLR
18 high-density lipoprotein particle clearance GO:0034384 9.8 APOA1 APOC2 APOE
19 triglyceride homeostasis GO:0070328 9.8 APOA1 APOC2 APOC3 APOE CETP LIPC
20 regulation of Cdc42 protein signal transduction GO:0032489 9.79 APOA1 APOC3 APOE
21 lipoprotein catabolic process GO:0042159 9.77 APOB APOE LDLR
22 low-density lipoprotein particle clearance GO:0034383 9.73 APOB LDLR
23 artery morphogenesis GO:0048844 9.73 APOB APOE
24 positive regulation of nitric-oxide synthase activity GO:0051000 9.73 APOE INS
25 lipoprotein transport GO:0042953 9.73 APOB APOC2
26 negative regulation of lipid catabolic process GO:0050995 9.72 APOC3 INS
27 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.72 APOB LPL
28 negative regulation of wound healing GO:0061045 9.72 HMGCR SERPINE1
29 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.72 CETP PPARA
30 high-density lipoprotein particle assembly GO:0034380 9.72 APOA1 APOE
31 negative regulation of blood coagulation GO:0030195 9.71 APOE SERPINE1
32 fatty acid homeostasis GO:0055089 9.71 APOE INS
33 phosphatidylcholine metabolic process GO:0046470 9.71 CETP LCAT
34 positive regulation of lipid biosynthetic process GO:0046889 9.7 APOE INS
35 positive regulation of fatty acid biosynthetic process GO:0045723 9.7 APOA1 APOC2
36 regulation of lipoprotein lipase activity GO:0051004 9.7 LIPC LPL
37 very-low-density lipoprotein particle assembly GO:0034379 9.7 APOB APOC3
38 positive regulation of lipoprotein lipase activity GO:0051006 9.69 APOA1 APOC2
39 phospholipid homeostasis GO:0055091 9.69 APOA1 CETP
40 positive regulation of cholesterol esterification GO:0010873 9.69 APOA1 APOE
41 positive regulation of triglyceride catabolic process GO:0010898 9.68 APOA1 APOC2
42 neuron projection regeneration GO:0031102 9.68 APOA1 APOE
43 positive regulation of cholesterol storage GO:0010886 9.67 APOB LPL
44 cholesterol import GO:0070508 9.66 APOA1 LDLR
45 very-low-density lipoprotein particle clearance GO:0034447 9.66 APOB APOE
46 negative regulation of receptor-mediated endocytosis GO:0048261 9.65 APOC2 APOC3
47 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.65 APOC2 APOC3
48 negative regulation of lipid metabolic process GO:0045833 9.65 APOC2 APOC3
49 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.63 APOA1 APOC3
50 very-low-density lipoprotein particle remodeling GO:0034372 9.63 APOC2 APOE CETP LCAT LIPC LPL

Molecular functions related to Familial Hyperlipidemia according to GeneCards Suite gene sharing:

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.77 APOB APOE LIPC LPA LPL
2 protease binding GO:0002020 9.74 INS LDLR SERPINE1
3 phospholipid binding GO:0005543 9.73 APOA1 APOB APOC3 APOE
4 cholesterol binding GO:0015485 9.62 APOA1 APOC3 APOE CETP
5 phosphatidylcholine binding GO:0031210 9.59 APOA1 CETP
6 low-density lipoprotein particle receptor binding GO:0050750 9.58 APOB APOE
7 triglyceride lipase activity GO:0004806 9.58 LIPC LPL
8 apolipoprotein binding GO:0034185 9.58 LIPC LPA LPL
9 phospholipid transporter activity GO:0005548 9.56 APOA1 CETP
10 low-density lipoprotein particle binding GO:0030169 9.55 LDLR LIPC
11 phospholipase activity GO:0004620 9.54 LIPC LPL
12 lipoprotein particle binding GO:0071813 9.52 APOA1 APOE
13 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.51 APOA1 APOE
14 beta-amyloid binding GO:0001540 9.49 APOA1 APOE
15 high-density lipoprotein particle receptor binding GO:0070653 9.48 APOA1 APOC3
16 triglyceride binding GO:0017129 9.46 CETP LPL
17 lipid transporter activity GO:0005319 9.46 APOA1 APOB APOE CETP
18 lipase inhibitor activity GO:0055102 9.43 APOA1 APOC2 APOC3
19 cholesterol transporter activity GO:0017127 9.26 APOA1 APOB APOE CETP
20 lipid binding GO:0008289 9.17 APOA1 APOB APOC2 APOC3 APOE CETP

Sources for Familial Hyperlipidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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