MCID: FML035
MIFTS: 48

Familial Hyperlipidemia malady

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

Aliases & Classifications for Familial Hyperlipidemia

Aliases & Descriptions for Familial Hyperlipidemia:

Name: Familial Hyperlipidemia 12 14 69
Familial Hyperlipoproteinemia 12 52 69
Hyperlipoproteinemias 42 69
Hyperlipidaemia 12 14
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 hyperlipoproteinemia type iv and hypertriglyceridemia. 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 Simvastatin and Fenofibrate have been mentioned in the context of this disorder. Affiliated tissues include heart, 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 80)
id Related Disease Score Top Affiliating Genes
1 hyperlipoproteinemia type iv 30.8 APOB COG2 INS
2 hypertriglyceridemia 28.0 APOA1 APOB APOC3 APOE CETP LCAT
3 hyperlipoproteinemia, type 1d 12.1
4 hyperlipoproteinemia, type ib 12.1
5 hyperlipoproteinemia type iii 11.1
6 hyperchylomicronemia, late-onset 11.0
7 familial lipoprotein lipase deficiency 11.0
8 hyperlipidemia type 3 10.9
9 hyperlipidemia, familial combined 10.8
10 hypercholesterolemia, familial 10.8
11 alport syndrome and thin basement membrane nephropathy 10.3 APOE LPL
12 zap-70 deficiency 10.2 APOB APOE
13 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.2 LIPC LPL
14 keratoconus 4 10.2 APOB APOE LDLR
15 atopic dermatitis 4 10.2 APOC3 LPA
16 transient retinal arterial occlusion 10.2 APOA1 APOB HMGCR
17 craniodiaphyseal dysplasia 10.2 APOA1 APOB SERPINE1
18 pars planitis 10.2 APOA1 APOE
19 arena syndrome 10.1 APOA1 LCAT
20 pontocerebellar hypoplasia, type 10 10.1 APOE HMGCR LDLR
21 abducens nerve neoplasm 10.1 APOC2 LIPC LPL
22 hyperchlorhidrosis, isolated 10.1 APOA1 APOE LIPC LPL
23 familial progressive cardiac conduction defect 10.1 APOA1 APOE LCAT
24 albinism, oculocutaneous, type v 10.1 APOA1 APOB APOE LPA
25 lipoprotein glomerulopathy 10.1 APOE LCAT
26 spinocerebellar ataxia 20 10.1 APOA1 APOB HMGCR LPA
27 asphyxia neonatorum 10.1 APOE LDLR LPA LPL
28 fibrosarcoma of bone 10.0 APOB HMGCR LDLR LPA
29 anaplastic ganglioglioma 10.0 APOA1 LCAT LPA
30 congenital chloride diarrhea 10.0 APOA1 APOB LPA SERPINE1
31 hypercholesterolemia, due to ligand-defective apo b 10.0 APOB APOE LCAT LDLR
32 primary pigmented nodular adrenocortical disease 10.0 APOA1 APOB APOE INS
33 tyrosinemia, type ii 9.9 APOA1 LCAT
34 gait apraxia 9.9 APOA1 APOB APOE CETP SERPINE1
35 c1s deficiency 9.9 APOC2 APOE INS LPL
36 autosomal recessive congenital ichthyosis 9.9 INS PPARA SERPINE1
37 dentinogenesis imperfecta type 2 9.9 APOB APOE HMGCR LCAT LDLR
38 exostosis 9.9 APOB INS SERPINE1
39 joint disorders 9.9 APOA1 APOB APOE INS LPL
40 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome 9.9 APOB APOE HMGCR LDLR LIPC LPL
41 alzheimer disease 19, late onset 9.9 APOB APOE LCAT LDLR LPA
42 fetal warfarin syndrome 9.9 APOA1 APOB INS LCAT
43 hypertension, essential 9.9 APOA1 APOB INS SERPINE1
44 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.8 APOB APOE CETP LIPC
45 bird fancier's lung 9.8 APOA1 APOB APOE LCAT LPA LPL
46 cataract 20, multiple types 9.8 APOB INS LPL PPARA SERPINE1
47 mannosidosis, beta 9.8 APOA1 APOB APOE CETP LCAT LPL
48 cetp-related hyperalphalipoproteinemia 9.8 APOB APOE INS PPARA SERPINE1
49 optic nerve neoplasm 9.8 APOA1 APOB APOE COG2 LPA
50 cervix small cell carcinoma 9.8 APOA1 APOB APOE INS LDLR SERPINE1

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 LPA LPL APOA1 APOB APOC3 APOE
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 SERPINE1 APOE INS LDLR LPL PPARA
4 integument MP:0010771 9.5 APOA1 APOE INS LDLR LPL PPARA
5 liver/biliary system MP:0005370 9.32 PPARA SERPINE1 APOA1 APOB APOE HMGCR

Drugs & Therapeutics for Familial Hyperlipidemia

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

(show top 50) (show all 565)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 4,Phase 3,Phase 2,Phase 1 79902-63-9 54454
2
Fenofibrate Approved Phase 4,Phase 3,Phase 2,Phase 1 49562-28-9 3339
3
Ezetimibe Approved Phase 4,Phase 3,Phase 2,Phase 1 163222-33-1 150311
4
Pravastatin Approved Phase 4,Phase 3,Phase 2,Phase 1 81093-37-0 54687
5
Aspirin Approved, Vet_approved Phase 4,Phase 2,Phase 1 50-78-2 2244
6
Cilostazol Approved Phase 4 73963-72-1 2754
7
Probucol Approved Phase 4,Phase 3 23288-49-5 4912
8
Metformin Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 657-24-9 14219 4091
9
Fluvastatin Approved Phase 4,Phase 3 93957-54-1 1548972
10
Pitavastatin Approved Phase 4,Phase 3,Phase 1 147511-69-1, 147526-32-7 6366718 5282452
11
Darunavir Approved Phase 4,Phase 1 635728-49-3, 206361-99-1 213039
12
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 155213-67-5 392622
13
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 22916-47-8 4189
14
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 128794-94-5 5281078
15
Mycophenolic acid Approved Phase 4,Phase 2,Phase 3,Phase 1 24280-93-1 446541
16
Telmisartan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 144701-48-4 65999
17
Cyclosporine Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3 79217-60-0, 59865-13-3 5284373 6435893
18
Efavirenz Approved, Investigational Phase 4,Phase 1 154598-52-4 64139
19
Lopinavir Approved Phase 4,Phase 2,Phase 1 192725-17-0 92727
20
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
21
Amlodipine Approved Phase 4,Phase 3,Phase 2,Phase 1 88150-42-9 2162
22
Glyburide Approved Phase 4 10238-21-8 3488
23
Repaglinide Approved, Investigational Phase 4,Phase 3 135062-02-1 65981
24
Colestipol Approved Phase 4 26658-42-4, 50925-79-6 62816
25
Lovastatin Approved, Investigational Phase 4,Phase 3,Phase 2 75330-75-5 53232
26
Saxagliptin Approved Phase 4 361442-04-8 11243969
27
Acarbose Approved, Investigational Phase 4,Phase 3 56180-94-0 441184
28
Aripiprazole Approved, Investigational Phase 4,Phase 3 129722-12-9 60795
29
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
30
Coal tar Approved Phase 4,Phase 1,Phase 2 8007-45-2
31
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1 159351-69-6 6442177
32
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
33
Tacrolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 104987-11-3 445643 439492
34
Dopamine Approved Phase 4,Phase 3 51-61-6, 62-31-7 681
35
Olanzapine Approved, Investigational Phase 4,Phase 3,Phase 2 132539-06-1 4585
36
Ziprasidone Approved Phase 4,Phase 3 146939-27-7 60854
37
Risperidone Approved, Investigational Phase 4,Phase 3 106266-06-2 5073
38
Orlistat Approved, Investigational Phase 4,Phase 2 96829-58-2 3034010
39
Azathioprine Approved Phase 4,Phase 1 446-86-6 2265
40
Chlorambucil Approved Phase 4 305-03-3 2708
41
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
42
Daclizumab Approved, Investigational Phase 4 152923-56-3
43
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4 67-73-2 6215
44
Infliximab Approved Phase 4 170277-31-3
45
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
46
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
47
Loperamide Approved Phase 4 53179-11-6 3955
48
Valsartan Approved, Investigational Phase 4,Phase 3,Phase 1 137862-53-4 60846
49
Nateglinide Approved, Investigational Phase 4 105816-04-4 60026
50
Insulin Glargine Approved Phase 4,Phase 3 160337-95-1

Interventional clinical trials:

(show top 50) (show all 1659)
id Name Status NCT ID Phase
1 Efficacy and Safety of Simvast Controlled Release (CR) and Zocor in Chronic Kidney Disease(CKD) Stage 3, 4 and 5 Patients With Hyperlipidemia Unknown status NCT01564875 Phase 4
2 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
3 Coadministration of Ezetimibe With Fenofibrate Versus Pravastatin Monotherapy for the Treatment of Hyperlipidaemia in HIV-infected Patients Unknown status NCT00843661 Phase 4
4 Rosuvastatin Effect on Reducing Coronary Atherosclerosis Plaques Volume Unknown status NCT01382277 Phase 4
5 The Effects of Omega-3 Fatty Acid (OMACOR) on the Low-density Lipoprotein (LDL) Sub-fraction in Type 2 Diabetic Patients Unknown status NCT00758927 Phase 4
6 Rosuvastatin Evaluation of Atherosclerotic Chinese Patients (REACH) Unknown status NCT00885872 Phase 4
7 Japanese Primary Prevention Project With Aspirin Unknown status NCT00225849 Phase 4
8 Comparison of Stenting Versus Best Medical Therapy for Treatment of Ostial Renal Artery Stenosis: a Trial in Patients With Advanced Atherosclerosis Unknown status NCT00711984 Phase 4
9 Association of Genetic Polymorphisms With Lipid Lowering Effects of Statin Therapy Unknown status NCT00509574 Phase 4
10 The HDL Particle Protection Study Unknown status NCT02125682 Phase 4
11 To Compare the Effect of Concomitant Administration of Probucol and Cilostazol With Probucol Single Treatment on the Atherosclerosis Related Markers (Including the Thickness of the Achilles Tendon) and Evaluate Safety (Based on Atorvastatin Treatment) in Unknown status NCT02098460 Phase 4
12 Probiotic BIO-25 as a Supplement to Statins for the Treatment of Hypercholesterolemia Unknown status NCT01849185 Phase 4
13 The Effect of Phytosterol Esters of Omega-3 (Vayarol) Versus Omega-3 Acids Ethyl Esters in Reducing Triglyceride Levels Unknown status NCT01712867 Phase 4
14 Lovaza Mechanisms of Action Unknown status NCT01301794 Phase 4
15 Tolerability and Lipid Lowering Effect of Weekly/Biweekly Crestor in Statin Intolerant Patients Treated With Zetia Unknown status NCT00972829 Phase 4
16 Triglyceride Lowering Study Unknown status NCT00934219 Phase 4
17 Trial to Assess the Effects of P-OM3 on LDL-C in Subjects With Primary Hypercholesterolemia Unknown status NCT00746811 Phase 4
18 Fluvastatin After Heart Transplantation Unknown status NCT00421005 Phase 4
19 Exercise And Rosuvastatin Treatment: Is There an Anti-Inflammatory Synergy? Unknown status NCT00295373 Phase 4
20 Ezetimibe/Simvastatin Combination in Proteinuric Nephropathy Unknown status NCT00861731 Phase 4
21 Fish Oil Supplementation and Vascular Function in Hypertensive Patients With Hypertriglyceridemia Unknown status NCT01480687 Phase 4
22 Atorvastatin, Aspirin, Oxidative Stress, Coagulation and Platelet Activation Indexes Unknown status NCT01322711 Phase 4
23 The Effects of Pravastatin and Rosuvastatin on Coronary Plaques in Patients With Stable Angina Pectoris Unknown status NCT01325818 Phase 4
24 Multifactorial Intervention on Cardiovascular Risk Factors in Subjects With Peripheral Arterial Disease Unknown status NCT00144937 Phase 4
25 A Study Evaluating the Effects of Lipid Lowering Treatment on Steroid Synthesis Unknown status NCT00433823 Phase 4
26 Study on the Efficacy and Safety of Oral Probucol Tablets in Patients With Hyperlipidemia - Post-Marketing Surveillance Completed NCT02730390 Phase 4
27 Telephone Based Management of Hyperlipidemia Completed NCT01212159 Phase 4
28 Comparison of the Efficacy and Safety of Cresnon® and Crestor® in Patients With Hyperlipidemia Completed NCT02280590 Phase 4
29 Effects of Ezetimibe on Postprandial Hyperlipidemia and Endothelial Function Completed NCT00189085 Phase 4
30 Tolerability and Efficacy of Rosuvastatin - Fenofibrate Combine Therapy in Korean Patients With Combined Hyperlipidemia Completed NCT01414803 Phase 4
31 Ezetimibe and Statins on Postprandial Lipemia in Type 2 Diabetes Completed NCT00699023 Phase 4
32 Effects of Exenatide on Postprandial Hyperlipidemia and Inflammation Completed NCT00974272 Phase 4
33 Study to Compare Welchol and TriCor to TriCor Alone in Patients With High Cholesterol Completed NCT00754039 Phase 4
34 Prevail-Us: A Study Of Pitavastatin 4 mg Vs. Pravastatin 40 mg In Patients With Primary Hyperlipidemia Or Mixed Dyslipidemia Completed NCT01256476 Phase 4
35 A Study To Evaluate The Safety And Efficacy Of Atorvastatin In Patients With Diabetes And High Cholesterol Completed NCT00645424 Phase 4
36 Pravastatin for Hyperlipidaemia in HIV. Completed NCT00227500 Phase 4
37 Comparing Amlodipine/Atorvastatin Co-Administration To Amlodipine Alone In Patients With Hypertension And Dyslipidemia Completed NCT00174330 Phase 4
38 Effect of Repaglinide on Postprandial Lipemia in Type 2 Diabetes Completed NCT01605773 Phase 4
39 Evaluation of Combination Cholesterol Treatments in Patients With High Cholesterol. Completed NCT00249938 Phase 4
40 Effects of Armolipid Plus on Cholesterol Levels and Endothelial Function Completed NCT00654459 Phase 4
41 Influence of OATP1B1 and BRCP Genotype on Rosuvastatin PK, PD and Lipidomics in Hyperlipidemic Patients Completed NCT01466608 Phase 4
42 Community Based Multiple Risk Factors Intervention Strategy Completed NCT00490672 Phase 4
43 Management of Elevated Cholesterol in the Primary Prevention Group of Adult Japanese(MEGA Study) Completed NCT00211705 Phase 4
44 Investigate Effect on Mean IMT of Probucol And/or CilosTazol in Patients With Coronary Heart dIsease Taking HMGCoA Reductase Inhibitor Therapy Completed NCT01291641 Phase 4
45 Genetic Basis for Heterogeneity in Response of Plasma Lipids to Plant Sterols Completed NCT01131832 Phase 4
46 Ezetrol Post-Marketing Study Completed NCT00753883 Phase 4
47 Efficacy of Almonds Added to Chronic Statin Therapy Completed NCT00603876 Phase 4
48 Effects of Omega-3 Fatty Acids on the Human Gene Expression Completed NCT01089231 Phase 4
49 Salusin-alpha - a New Factor in the Pathogenesis of Lipid Abnormalities in Hemodialysis Patients Completed NCT01448174 Phase 4
50 Effect of Fenofibrate on Endothelial Function and High-density Lipoproteins (HDL)in Patients With Coronary Heart Disease Completed NCT00552747 Phase 4

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
Heart

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
Low-density lipoprotein cholesterol, apolipoprotein B, and risk of coronary heart disease: from familial hyperlipidemia to genomics. ( 22531366 )
2013
5
An infant with milky blood : an unusual but treatable case of familial hyperlipidemia. ( 24426212 )
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 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 APOA1 APOB APOC2 APOC3 APOE CETP
2
Show member pathways
13.12 APOA1 APOB APOE COG2 INS LDLR
3
Show member pathways
12.52 APOA1 APOB APOC2 APOC3 APOE LDLR
4
Show member pathways
12.23 APOA1 APOB APOC2 APOC3 APOE CETP
5
Show member pathways
12.13 APOA1 APOB APOE INS LDLR SERPINE1
6
Show member pathways
12.03 APOA1 APOB APOC2 APOC3 APOE LDLR
7 11.92 INS LPL PPARA SERPINE1
8
Show member pathways
11.7 APOA1 APOB APOE
9 11.6 HMGCR INS LDLR LPL
10 11.56 APOA1 APOC3 LPL PPARA
11
Show member pathways
11.2 APOA1 APOB APOC2 APOC3 APOE CETP
12 11.07 APOA1 APOC3 PPARA
13 10.91 HMGCR LDLR PPARA
14 10.9 APOA1 APOB

GO Terms for Familial Hyperlipidemia

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

(show all 14)
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 9.69 APOB APOE LDLR
6 endocytic vesicle lumen GO:0071682 9.65 APOA1 APOB APOE
7 spherical high-density lipoprotein particle GO:0034366 9.63 APOA1 APOC2 APOC3
8 very-low-density lipoprotein particle GO:0034361 9.63 APOA1 APOB APOC2 APOC3 APOE LPL
9 endosome lumen GO:0031904 9.54 APOB INS
10 intermediate-density lipoprotein particle GO:0034363 9.35 APOA1 APOB APOC2 APOC3 APOE
11 chylomicron GO:0042627 9.1 APOA1 APOB APOC2 APOC3 APOE LPL
12 extracellular exosome GO:0070062 10.18 APOA1 APOB APOC2 APOC3 APOE CETP
13 extracellular region GO:0005576 10.18 APOA1 APOB APOC2 APOC3 APOE CETP
14 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 62)
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 cholesterol efflux GO:0033344 9.97 APOA1 APOB APOC2 APOC3 APOE
4 low-density lipoprotein particle remodeling GO:0034374 9.95 APOB APOE CETP LIPC LPA
5 chylomicron assembly GO:0034378 9.93 APOA1 APOB APOC2 APOC3 APOE
6 triglyceride metabolic process GO:0006641 9.92 APOC3 APOE CETP LPL
7 reverse cholesterol transport GO:0043691 9.91 APOA1 APOC2 APOC3 APOE CETP LCAT
8 regulation of lipid metabolic process GO:0019216 9.89 APOA1 HMGCR PPARA
9 phospholipid efflux GO:0033700 9.89 APOA1 APOC2 APOC3 APOE
10 lipoprotein biosynthetic process GO:0042158 9.88 APOA1 APOB APOE LCAT
11 negative regulation of inflammatory response GO:0050728 9.87 APOA1 APOE PPARA
12 high-density lipoprotein particle remodeling GO:0034375 9.87 APOA1 APOC2 APOC3 APOE CETP LCAT
13 phospholipid metabolic process GO:0006644 9.85 APOA1 LCAT LPL
14 positive regulation of inflammatory response GO:0050729 9.84 LDLR LPL SERPINE1
15 phospholipid transport GO:0015914 9.82 APOA1 CETP LDLR
16 high-density lipoprotein particle clearance GO:0034384 9.8 APOA1 APOC2 APOE
17 triglyceride homeostasis GO:0070328 9.8 APOA1 APOC2 APOC3 APOE CETP LIPC
18 regulation of Cdc42 protein signal transduction GO:0032489 9.78 APOA1 APOC3 APOE
19 lipoprotein catabolic process GO:0042159 9.77 APOB APOE LDLR
20 low-density lipoprotein particle clearance GO:0034383 9.73 APOB LDLR
21 artery morphogenesis GO:0048844 9.73 APOB APOE
22 positive regulation of nitric-oxide synthase activity GO:0051000 9.73 APOE INS
23 negative regulation of lipid catabolic process GO:0050995 9.73 APOC3 INS
24 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.72 APOB LPL
25 lipoprotein transport GO:0042953 9.72 APOB APOC2
26 high-density lipoprotein particle assembly GO:0034380 9.72 APOA1 APOE
27 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.72 CETP PPARA
28 negative regulation of blood coagulation GO:0030195 9.72 APOE SERPINE1
29 fatty acid homeostasis GO:0055089 9.71 APOE INS
30 phosphatidylcholine metabolic process GO:0046470 9.71 CETP LCAT
31 positive regulation of lipid biosynthetic process GO:0046889 9.71 APOE INS
32 negative regulation of wound healing GO:0061045 9.71 HMGCR SERPINE1
33 positive regulation of fatty acid biosynthetic process GO:0045723 9.7 APOA1 APOC2
34 very-low-density lipoprotein particle assembly GO:0034379 9.7 APOB APOC3
35 regulation of lipoprotein lipase activity GO:0051004 9.7 LIPC LPL
36 positive regulation of lipoprotein lipase activity GO:0051006 9.69 APOA1 APOC2
37 phospholipid homeostasis GO:0055091 9.69 APOA1 CETP
38 positive regulation of cholesterol esterification GO:0010873 9.69 APOA1 APOE
39 positive regulation of triglyceride catabolic process GO:0010898 9.68 APOA1 APOC2
40 positive regulation of cholesterol storage GO:0010886 9.68 APOB LPL
41 neuron projection regeneration GO:0031102 9.67 APOA1 APOE
42 negative regulation of vasodilation GO:0045908 9.67 HMGCR INS
43 negative regulation of receptor-mediated endocytosis GO:0048261 9.67 APOC2 APOC3
44 cholesterol import GO:0070508 9.66 APOA1 LDLR
45 very-low-density lipoprotein particle clearance GO:0034447 9.65 APOB APOE
46 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.65 APOC2 APOC3
47 negative regulation of lipid metabolic process GO:0045833 9.65 APOC2 APOC3
48 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.64 APOA1 APOC3
49 chylomicron remnant clearance GO:0034382 9.63 APOB APOC2 APOC3 APOE LDLR LIPC
50 very-low-density lipoprotein particle remodeling GO:0034372 9.43 APOC2 APOE CETP LCAT LIPC LPL

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.77 APOB APOE LIPC LPA LPL
2 phospholipid binding GO:0005543 9.73 APOA1 APOB APOC3 APOE
3 protease binding GO:0002020 9.7 INS LDLR SERPINE1
4 cholesterol binding GO:0015485 9.62 APOA1 APOC3 APOE CETP
5 phosphatidylcholine binding GO:0031210 9.58 APOA1 CETP
6 triglyceride lipase activity GO:0004806 9.58 LIPC LPL
7 apolipoprotein binding GO:0034185 9.58 LIPC LPA LPL
8 low-density lipoprotein particle receptor binding GO:0050750 9.57 APOB APOE
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 9.51 APOA1 APOE
13 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.49 APOA1 APOE
14 high-density lipoprotein particle receptor binding GO:0070653 9.48 APOA1 APOC3
15 triglyceride binding GO:0017129 9.46 CETP LPL
16 lipid transporter activity GO:0005319 9.46 APOA1 APOB APOE CETP
17 lipase inhibitor activity GO:0055102 9.43 APOA1 APOC2 APOC3
18 cholesterol transporter activity GO:0017127 9.26 APOA1 APOB APOE CETP
19 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
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44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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