MCID: HYP614
MIFTS: 50

Hyperlipidemia, Familial Combined

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Hyperlipidemia, Familial Combined

MalaCards integrated aliases for Hyperlipidemia, Familial Combined:

Name: Hyperlipidemia, Familial Combined 54 29 42 69
Hyperlipidemia, Combined, 1 24 29 69
Mixed Hyperlipidemia 12 52 69
Hyperlipidemia, Familial Combined, Susceptibility to 24 13
Combined Hyperlipidemia, Familial 54 13
Familial Combined Hyperlipidemia 12 14
Hyperlipidemia Combined 1 24 71
Hyperbetalipoproteinemia with Prebetalipoproteinemia 12
Familial Multiple Lipoprotein-Type Hyperlipidemia 12
Familial Combined Hyperlipidemia [ambiguous] 12
Familial Combined Hyperlipidemia Type 1 71
Hyperlipidemia Familial Combined 52
Type Iib Hyperlipoproteinemia 12
Hyperlipoproteinemia Type Iib 69
Mixed Hyperlipidaemia 12
Hyplip1 71
Fchl1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant (11q23-q24)


HPO:

32
combined hyperlipidemia, familial:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hyperlipidemia, Familial Combined

OMIM : 54
Goldstein et al. (1973) gave the designation 'familial combined hyperlipidemia' to the most common genetic form of hyperlipidemia identified in a study of survivors of myocardial infarction. Affected persons characteristically showed elevation of both cholesterol and triglycerides in the blood. The combined disorder was shown to be distinct from familial hypercholesterolemia (143890) and from familial hypertriglyceridemia (145750) for the following reasons: (1) lipid distributions in relatives were unique; (2) unlike familial hypercholesterolemia, children of affected persons did not express hypercholesterolemia; and (3) informative matings suggested that variable expression of a single gene rather than segregation for 2 separate genes was responsible. This disorder leads to elevated levels of VLDL, LDL, or both in plasma. From time to time the pattern can change in a given person. Unlike familial hypercholesterolemia, hyperlipidemia appears in only 10 to 20% of patients in childhood, usually in the form of hypertriglyceridemia. Xanthomas are rare. Increased production of VLDL may be a common underlying metabolic characteristic in this disorder, which may be heterogeneous. The disorder may be 5 times as frequent as familial hypercholesterolemia, occurring in 1% of the U.S. population. Using elevation of VLDL, of LDL, or of both as the phenotype in family studies, Goldstein et al. (1973) and Brunzell et al. (1983) concluded that familial combined hyperlipidemia is an autosomal dominant with high penetrance. Homozygotes can show severe hypertriglyceridemia (Chait and Brunzell, 1983). Brunzell et al. (1976) estimated that 10% of premature coronary artery disease is caused by FCHL. (144250)

MalaCards based summary : Hyperlipidemia, Familial Combined, also known as hyperlipidemia, combined, 1, is related to hyperchylomicronemia, late-onset and hyperlipidemia, combined, 2, and has symptoms including xanthelasma, myocardial infarction and combined hyperlipidemia. An important gene associated with Hyperlipidemia, Familial Combined is LPL (Lipoprotein Lipase), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Fenofibrate and Lovastatin have been mentioned in the context of this disorder. Affiliated tissues include heart and endothelial, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

UniProtKB/Swiss-Prot : 71 Hyperlipidemia combined 1: A disorder characterized by a variable pattern of elevated levels of serum total cholesterol, triglycerides or both. It is observed in a percentage of individuals with premature coronary heart disease.

Related Diseases for Hyperlipidemia, Familial Combined

Diseases in the Hyperlipidemia, Familial Combined family:

Hyperlipidemia, Combined, 2

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

(show top 50) (show all 67)
id Related Disease Score Top Affiliating Genes
1 hyperchylomicronemia, late-onset 28.1 APOA1 APOA2 APOA5 APOB APOC3 APOE
2 hyperlipidemia, combined, 2 10.9
3 xk aprosencephaly 10.6 APOB APOE
4 hypercholesterolemia, due to ligand-defective apo b 10.6 APOB APOE
5 cirrhotic cardiomyopathy 10.5 APOE LPL
6 pars planitis 10.5 APOA1 APOE
7 cataract, autosomal dominant congenital 4 10.5 APOB APOE
8 otospondylomegaepiphyseal dysplasia 10.5 APOA1 APOB
9 legg-calve-perthes disease 10.5 APOA1 APOB
10 dental anomalies and short stature 10.4 APOA1 APOB HMGCR
11 retinal arteries, tortuosity of 10.4 APOE HMGCR
12 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency 10.4 APOB APOE HMGCR
13 short stature, brachydactyly, intellectual developmental disability, and seizures 10.3 APOA1 APOA2
14 epilepsy, familial focal, with variable foci 3 10.3 LIPC LPL
15 immunodeficiency 19 10.3 APOA5 APOE LPL
16 hereditary congenital facial paresis 10.2 APOA1 APOA2
17 malignant type ab thymoma 10.2 APOA1 APOB APOE
18 fetal parvovirus syndrome 10.2 APOA1 APOB
19 malignant fibrous histiocytoma of bone 10.1 APOB APOE HMGCR LPL
20 islet cell tumor 10.1 APOA1 APOB APOE LPL
21 mental retardation, autosomal dominant 45 10.1 APOA2 APOB APOE
22 familial osteochondritis dissecans 10.1 APOA1 APOA2 APOE
23 hyperlipoproteinemia, type iii 10.1
24 arthritis 10.1 APOE CETP
25 carnitine deficiency, systemic primary 10.0 APOA1 APOB
26 exudative vitreoretinopathy 2, x-linked 9.9 APOB COG2
27 migraine with or without aura 1 9.9 APOA1 APOA2 APOB APOE
28 acute pancreatitis 9.9
29 pancreatitis 9.9
30 recurrent acute pancreatitis 9.9
31 pontocerebellar hypoplasia 9.8 APOA1 APOB APOE CETP
32 coronary artery disease 9.8
33 artery disease 9.8
34 melorheostosis 9.8 APOA1 APOB APOE CETP
35 amelogenesis imperfecta, type iia3 9.8 APOA1 APOE LIPC LPL
36 candidal paronychia 9.8 APOB COG2
37 abducens nerve neoplasm 9.8 APOA5 APOB LIPC LPL
38 autoimmune hepatitis 9.7 APOB APOE HMGCR LIPC
39 hypopituitarism 9.7
40 hypertriglyceridemia 9.7
41 heart disease 9.6
42 bird fancier's lung 9.6 APOA1 APOA2 APOB APOE LPL
43 wolfram syndrome 2 9.6 APOA1 APOB APOE CETP LPL
44 ovarian clear cell malignant adenofibroma 9.6 APOA1 APOB COG2 USF1
45 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 9.6 APOB APOE HMGCR LIPC LPL
46 glossopharyngeal nerve disease 9.5 APOA1 APOB APOE COG2
47 stroke, ischemic 9.5 APOB APOE COG2 HMGCR
48 macular degeneration, age-related, 1 9.4 APOB APOE CETP LIPC
49 xanthogranulomatous pyelonephritis 9.4 APOA5 APOB APOE CETP HMGCR
50 obesity, hyperphagia, and developmental delay 9.3 APOA1 APOA2 APOB APOE CETP

Comorbidity relations with Hyperlipidemia, Familial Combined via Phenotypic Disease Network (PDN):


Benign Essential Hypertension Chronic Myocardial Ischemia
Esophagitis Hypertension, Essential
Hypothyroidism Intermediate Coronary Syndrome
Ischemic Heart Disease Mitral Valve Disease
Peripheral Vascular Disease

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



Diseases related to Hyperlipidemia, Familial Combined

Symptoms & Phenotypes for Hyperlipidemia, Familial Combined

Symptoms via clinical synopsis from OMIM:

54

Cardiac:
myocardial infarction

Lab:
combined hyperlipidemia
elevation of vldl, of ldl, or both

Skin:
xanthomas are rare


Clinical features from OMIM:

602491 144250

Human phenotypes related to Hyperlipidemia, Familial Combined:

32
id Description HPO Frequency HPO Source Accession
1 xanthelasma 32 occasional (7.5%) HP:0001114
2 myocardial infarction 32 HP:0001658
3 combined hyperlipidemia 32 HP:0008356

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.61 APOA1 APOA5 APOB APOC3 APOE CETP
2 Increased LDL uptake GR00340-A-1 8.8 APOA1 APOE LPL

MGI Mouse Phenotypes related to Hyperlipidemia, Familial Combined:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 APOA1 APOA2 APOA5 APOB APOE COG2
2 liver/biliary system MP:0005370 9.1 APOA1 APOB APOE HMGCR LIPE LPL

Drugs & Therapeutics for Hyperlipidemia, Familial Combined

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

(show top 50) (show all 60)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fenofibrate Approved Phase 4,Phase 3 49562-28-9 3339
2
Lovastatin Approved, Investigational Phase 4 75330-75-5 53232
3
Ezetimibe Approved Phase 4,Phase 3 163222-33-1 150311
4
Simvastatin Approved Phase 4,Phase 3 79902-63-9 54454
5
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-30-3 6037
6
Niacin Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 59-67-6 938
7
Nicotinamide Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 98-92-0 936
8 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
10 Calcium, Dietary Phase 4,Phase 3,Phase 2
11 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Phase 2
12 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Phase 1
13 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Phase 1
14 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1
15 Nicotinic Acids Phase 4,Phase 3,Phase 2,Phase 1
16 Rosuvastatin Calcium Phase 4 147098-20-2
17 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1
18 Vasodilator Agents Phase 4,Phase 3,Phase 1
19 Vitamin B Complex Phase 4,Phase 3,Phase 2,Phase 1
20 Vitamins Phase 4,Phase 3,Phase 2,Phase 1
21 Colesevelam Hydrochloride Phase 4
22 Dihydromevinolin Phase 4
23 L 647318 Phase 4
24 Ezetimibe, Simvastatin Drug Combination Phase 4,Phase 3
25 Folate Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
26 Vitamin B3 Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
27 Vitamin B9 Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
28 Omega 3 Fatty Acid Nutraceutical Phase 4,Phase 3,Phase 1
29
Pravastatin Approved Phase 3 81093-37-0 54687
30
Bezafibrate Approved Phase 3 41859-67-0 39042
31
Ursodeoxycholic acid Approved, Investigational Phase 3 128-13-2 31401
32 Atorvastatin Calcium Phase 3,Phase 2 134523-03-8
33
Torcetrapib Phase 3 262352-17-0 159325
34 Cholagogues and Choleretics Phase 3
35 Gastrointestinal Agents Phase 3,Early Phase 1
36
Anacetrapib Phase 2,Phase 1 875446-37-0
37 Ubiquinone Phase 2
38
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
39
Ticlopidine Approved Phase 1 55142-85-3 5472
40
Clopidogrel Approved, Nutraceutical Phase 1 120202-66-6, 113665-84-2 60606
41 Analgesics Phase 1
42 Analgesics, Non-Narcotic Phase 1
43 Anti-Inflammatory Agents Phase 1
44 Anti-Inflammatory Agents, Non-Steroidal Phase 1
45 Antipyretics Phase 1
46 Antirheumatic Agents Phase 1
47 Cyclooxygenase Inhibitors Phase 1
48 Cytochrome P-450 Enzyme Inhibitors Phase 1
49 Fibrinolytic Agents Phase 1
50 Neurotransmitter Agents Phase 1

Interventional clinical trials:

(show all 46)

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 Efficacy Study of Extended-Release Niacin/Lovastatin Versus Usual Care Completed NCT00345657 Phase 4 Niacin Extended Release/Lovastatin
4 Effect of Fenofibrate on Endothelial Function and High-density Lipoproteins (HDL)in Patients With Coronary Heart Disease Completed NCT00552747 Phase 4 fenofibrate;placebo
5 Effect of Rosuvastatin on Triglyceride Levels in Mexican Hypertriglyceridemic Patients Completed NCT00473655 Phase 4 rosuvastatin
6 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
7 Efficacy Study of Daily Pro-Omega LDL for Low-Density Lipoprotein Cholesterol and Triglyceride Reduction Withdrawn NCT02069106 Phase 4
8 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
9 Efficacy and Safety of Fenofibrate Added on to Atorvastatin Compared With Atorvastatin Unknown status NCT01956201 Phase 3 Atorvastatin 20mg;Fenofibrate 160mg
10 Lipid Efficacy and Safety in Participants With Mixed Hyperlipidemia (MK-0524B-024) Completed NCT00289900 Phase 3 MK-0524A;Atorvastatin;Simvastatin
11 A Study to Evaluate an Investigational Drug in Patients With Mixed Hyperlipidemia (0653A-071)(COMPLETED) Completed NCT00093899 Phase 3 ezetimibe (+) simvastatin
12 Study of Ezetimibe and Fenofibrate in Patients With Mixed Hyperlipidemia (0653-036)(COMPLETED) Completed NCT00092573 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
13 Two Investigational Drugs in Patients With Mixed Hyperlipidemia (0653-036) Completed NCT00092560 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
14 Lipid Efficacy Study (0524B-022)(COMPLETED) Completed NCT00269217 Phase 3 niacin (+) laropiprant (+) simvastatin;Comparator: niacin (+) laropiprant;Comparator: simvastatin
15 Lipid Efficacy/Tolerability Study (0524A-020) Completed NCT00269204 Phase 3 niacin (+) laropiprant;ER-niacin
16 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)
17 Effect of MK0524A on Cholesterol Levels (0524A-048) Completed NCT00536510 Phase 3 laropiprant/niacin (MK0524A);Comparator: placebo
18 Assess HDL-C Increase And Non-HDL Lowering Effect Of Torcetrapib/Atorvastatin Vs. Fenofibrate Completed NCT00139061 Phase 3 Torcetrapib/Atorvastatin;Fenofibrate
19 Tolerability of MK0524A Versus Niacin Extended-Release (0524A-054) Completed NCT00378833 Phase 3 niacin (+) laropiprant;niacin
20 Comparison of the Combination of Fenofibrate and 40 mg Simvastatin Versus 40 mg Simvastatin Monotherapy Completed NCT00352183 Phase 3 Fenofibrate/Simvastatin;Simvastatin
21 Comparison of the Combination of Fenofibrate and 20 mg Simvastatin Versus 40 mg Simvastatin Monotherapy Completed NCT00349375 Phase 3 Fenofibrate/Simvastatin;Fenofibrate/Simvastatin;Simvastatin
22 Comparison of the Combination of Fenofibrate and Simvastatin Versus Atorvastatin Completed NCT00362934 Phase 3 fenofibrate / simvastatin;Atorvastatin
23 Effect of an Investigational Compound on Tolerability of Extended Release Niacin (0524A-023)(COMPLETED) Completed NCT00376584 Phase 3 MK-0524A;ER Niacin;Placebo
24 Comparison of the Combination of Fenofibrate and Simvastatin Versus Pravastatin Completed NCT00362206 Phase 3 Fenofibrate/Simvastatin;Fenofibrate/Simvastatin;Pravastatin
25 A Study to Evaluate the Lipid Regulating Effects of 1-Methylnicotinamide (1-MNA) Completed NCT00519714 Phase 2, Phase 3
26 Phase 3 Study of Bezafibrate in Combination With Ursodeoxycholic Acid in Primary Biliary Cirrhosis Completed NCT01654731 Phase 3 Bezafibrate;placebo
27 Carotid B-mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrapib/Atorvastatin to Atorvastatin. Terminated NCT00134238 Phase 3 torcetrapib/atorvastatin;atorvastatin
28 Phase 2 Dose-Ranging Efficacy and Safety Trial of SCH 900271 in Participants With Primary Hypercholesterolemia or Mixed Hyperlipidemia (P05675) Completed NCT00941603 Phase 2 SCH 900271 15mg;SCH 900271;SCH 900271;SCH 900271;SCH 900271;Placebo
29 A Pilot Study to Evaluate the Lipid Effects of TRIA-662 Completed NCT02008084 Phase 2 TRIA-662;Placebo
30 Study of the Safety and Tolerability Associated With PPD10558 Versus Atorvastatin in Patients Previously Intolerant to Statins Due to Statin-associated Myalgia (SAM) Completed NCT01279590 Phase 2 PPD10558;Atorvastatin;Placebo
31 Trial of Antroquinonol in Patients With Hypercholesterolemia and Hyperlipidemia Recruiting NCT02719028 Phase 2 Antroquinonol;placebo
32 MK0859 Dose-Ranging Study (0859-003) Terminated NCT00325455 Phase 2 MK0859
33 A Study of MK0859 in Patients With Primary Hypercholesterolemia or Mixed Hyperlipidemia (MK-0859-011)(COMPLETED) Completed NCT00565292 Phase 1 MK0859
34 A Study to Evaluate the Effects of Laropiprant on the Antiplatelet Effects of Clopidogrel and Aspirin in Combination (MK-0524A-114)(COMPLETED) Completed NCT01012219 Phase 1 niacin (+) laropiprant;Comparator: aspirin;Comparator: clopidogrel;Comparator: laropiprant;Comparator: placebo
35 The Effects of a Mediterranean Diet in Pediatric Hyperlipidemia Completed NCT01308710 Phase 1
36 Comparison of the Efficacy and Safety of AtorVastatin mOnotherapy vs. Combination Atorvastatin/Fenofibric Acid Unknown status NCT01974297 Atorvastatin 10mg, fenofibric acid 135mg;atorvastatin 20mg
37 Low Carbohydrate Diet - Effect on Plasma Lipids and Metabolic Markers Unknown status NCT01476436
38 Understanding the Genetic Basis of Familial Combined Hyperlipidemia in Mexican Individuals Completed NCT00365235
39 Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia Completed NCT00005313
40 Evaluation of Non-invasive Measurements of Atherosclerosis in Cardiovascular Risk Stratification Completed NCT01555294
41 Inflammatory Aspects of Glucose in Hyperlipidemia and Diabetes Completed NCT02130505
42 Effects of FXR Activation on Hepatic Lipid and Glucose Metabolism Completed NCT00465751 Early Phase 1 chenodeoxycholic acid;placebo capsules
43 Genetic Epidemiology of Hypertriglyceridemia Completed NCT00005368
44 Quantitative Genetic Analysis of Lipid Research Clinic Family Data Completed NCT00005188
45 Effect of Weight Loss on Cholesterol Metabolism in Hereditary Hypercholesterolemias and Overweight or Obesity. Completed NCT01995149
46 Genomic Dissection of a QTL Affecting the Lipid Profile Withdrawn NCT00064688

Search NIH Clinical Center for Hyperlipidemia, Familial Combined

Cochrane evidence based reviews: hyperlipidemia, familial combined

Genetic Tests for Hyperlipidemia, Familial Combined

Genetic tests related to Hyperlipidemia, Familial Combined:

id Genetic test Affiliating Genes
1 Hyperlipidemia, Familial Combined 29
2 Hyperlipidemia, Combined, 1 29
3 Hyperlipidemia Combined 1 24 USF1

Anatomical Context for Hyperlipidemia, Familial Combined

MalaCards organs/tissues related to Hyperlipidemia, Familial Combined:

39
Heart, Endothelial

Publications for Hyperlipidemia, Familial Combined

Variations for Hyperlipidemia, Familial Combined

ClinVar genetic disease variations for Hyperlipidemia, Familial Combined:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LPL LPL, -39T-C single nucleotide variant Pathogenic
2 LPL NM_000237.2(LPL): c.953A> G (p.Asn318Ser) single nucleotide variant Pathogenic rs268 GRCh37 Chromosome 8, 19813529: 19813529
3 LPL NM_000237.2(LPL): c.106G> A (p.Asp36Asn) single nucleotide variant risk factor rs1801177 GRCh37 Chromosome 8, 19805708: 19805708
4 LPL LPL, -93T-G single nucleotide variant Pathogenic
5 LPL NM_000237.2(LPL): c.904T> C (p.Cys302Arg) single nucleotide variant Likely pathogenic rs1064797075 GRCh38 Chromosome 8, 19955969: 19955969

Expression for Hyperlipidemia, Familial Combined

Search GEO for disease gene expression data for Hyperlipidemia, Familial Combined.

Pathways for Hyperlipidemia, Familial Combined

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

(show all 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 APOA1 APOA2 APOA5 APOB APOC3 APOE
2
Show member pathways
12.65 APOA1 APOA2 APOA5 HMGCR LPL
3
Show member pathways
12.45 APOA1 APOA2 APOB APOC3 APOE LPL
4
Show member pathways
12.19 APOA1 APOA2 APOA5 APOB APOC3 APOE
5
Show member pathways
12.13 APOA1 APOA2 APOB APOC3 APOE LPL
6 11.84 LIPE LPL RXRG
7 11.8 APOA1 APOA5 APOE
8
Show member pathways
11.74 LIPC LIPE LPL
9
Show member pathways
11.7 APOA1 APOB APOE
10 11.49 APOA1 APOA2 APOA5 APOC3 LPL RXRG
11
Show member pathways
11.33 LIPC LIPE LPL
12
Show member pathways
11.15 APOA1 APOA2 APOA5 APOB APOC3 APOE
13 10.97 APOA1 APOA2 APOA5 APOC3
14 10.94 APOA1 APOB
15 10.82 APOA1 APOA2
16 10.54 LIPC LIPE

GO Terms for Hyperlipidemia, Familial Combined

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.88 APOA1 APOA2 APOB APOC3 APOE
2 endoplasmic reticulum lumen GO:0005788 9.85 APOA1 APOA2 APOA5 APOB APOE LIPC
3 blood microparticle GO:0072562 9.83 APOA1 APOA2 APOA5 APOE
4 endocytic vesicle lumen GO:0071682 9.63 APOA1 APOB APOE
5 high-density lipoprotein particle GO:0034364 9.63 APOA1 APOA2 APOA5 APOE CETP LIPC
6 low-density lipoprotein particle GO:0034362 9.62 APOA1 APOA5 APOB APOE
7 spherical high-density lipoprotein particle GO:0034366 9.58 APOA1 APOA2 APOC3
8 intermediate-density lipoprotein particle GO:0034363 9.56 APOA1 APOB APOC3 APOE
9 extracellular matrix GO:0031012 9.54 APOE LPL
10 very-low-density lipoprotein particle GO:0034361 9.5 APOA1 APOA2 APOA5 APOB APOC3 APOE
11 discoidal high-density lipoprotein particle GO:0034365 9.21 APOA1
12 chylomicron GO:0042627 9.17 APOA1 APOA2 APOA5 APOB APOC3 APOE
13 extracellular region GO:0005576 10.15 APOA1 APOA2 APOA5 APOB APOC3 APOE
14 extracellular space GO:0005615 10.09 APOA1 APOA2 APOA5 APOB APOC3 APOE

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

(show top 50) (show all 56)
id Name GO ID Score Top Affiliating Genes
1 triglyceride metabolic process GO:0006641 9.99 APOA2 APOA5 APOC3 APOE CETP LPL
2 cholesterol metabolic process GO:0008203 9.97 APOA1 APOA2 APOB APOE CETP HMGCR
3 cholesterol homeostasis GO:0042632 9.97 APOA1 APOA2 APOA5 APOB APOC3 APOE
4 cholesterol transport GO:0030301 9.96 APOA1 APOA2 APOB CETP LIPC
5 regulation of lipid metabolic process GO:0019216 9.95 APOA1 APOA2 APOA5 HMGCR
6 cholesterol efflux GO:0033344 9.93 APOA1 APOA2 APOA5 APOB APOC3 APOE
7 low-density lipoprotein particle remodeling GO:0034374 9.92 APOA2 APOB APOE CETP LIPC
8 high-density lipoprotein particle assembly GO:0034380 9.91 APOA1 APOA2 APOA5 APOE
9 lipoprotein metabolic process GO:0042157 9.91 APOA1 APOA2 APOA5 APOB APOC3 APOE
10 positive regulation of cholesterol esterification GO:0010873 9.89 APOA1 APOA2 APOA5 APOE
11 phospholipid efflux GO:0033700 9.89 APOA1 APOA2 APOA5 APOC3 APOE
12 chylomicron remnant clearance GO:0034382 9.88 APOB APOC3 APOE LIPC
13 very-low-density lipoprotein particle remodeling GO:0034372 9.88 APOE CETP LIPC LPL
14 chylomicron assembly GO:0034378 9.88 APOA1 APOA2 APOB APOC3 APOE
15 high-density lipoprotein particle remodeling GO:0034375 9.88 APOA1 APOA2 APOC3 APOE CETP LIPC
16 triglyceride catabolic process GO:0019433 9.86 APOA1 APOA5 APOB APOC3 APOE LIPC
17 cholesterol biosynthetic process GO:0006695 9.85 APOA1 APOA5 HMGCR
18 lipid homeostasis GO:0055088 9.83 APOE CETP USF1
19 high-density lipoprotein particle clearance GO:0034384 9.82 APOA1 APOA2 APOE
20 neuron projection regeneration GO:0031102 9.81 APOA1 APOA5 APOE
21 regulation of Cdc42 protein signal transduction GO:0032489 9.81 APOA1 APOC3 APOE
22 lipoprotein biosynthetic process GO:0042158 9.8 APOA1 APOB APOE
23 regulation of intestinal cholesterol absorption GO:0030300 9.79 APOA1 APOA2 APOA5
24 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.79 APOA1 APOA2 APOC3
25 artery morphogenesis GO:0048844 9.72 APOB APOE
26 negative regulation of lipid catabolic process GO:0050995 9.72 APOA2 APOC3
27 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.72 APOB LPL
28 phosphatidylcholine metabolic process GO:0046470 9.71 APOA5 CETP
29 positive regulation of fatty acid biosynthetic process GO:0045723 9.71 APOA1 APOA5
30 regulation of lipoprotein lipase activity GO:0051004 9.71 LIPC LPL
31 very-low-density lipoprotein particle assembly GO:0034379 9.71 APOB APOC3
32 positive regulation of lipoprotein lipase activity GO:0051006 9.71 APOA1 APOA5
33 phospholipid homeostasis GO:0055091 9.7 APOA1 CETP
34 positive regulation of triglyceride catabolic process GO:0010898 9.7 APOA1 APOA5
35 positive regulation of cholesterol storage GO:0010886 9.7 APOB LPL
36 positive regulation of lipid catabolic process GO:0050996 9.7 APOA2 APOA5
37 reverse cholesterol transport GO:0043691 9.7 APOA1 APOA2 APOA5 APOC3 APOE CETP
38 negative regulation of cytokine secretion involved in immune response GO:0002740 9.69 APOA1 APOA2
39 peptidyl-methionine modification GO:0018206 9.69 APOA1 APOA2
40 very-low-density lipoprotein particle clearance GO:0034447 9.69 APOB APOE
41 negative regulation of lipase activity GO:0060192 9.68 APOA1 APOA2
42 lipoprotein catabolic process GO:0042159 9.68 APOB APOE
43 diacylglycerol catabolic process GO:0046340 9.67 APOA2 LIPE
44 protein oxidation GO:0018158 9.67 APOA1 APOA2
45 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.67 APOA2 APOA5
46 negative regulation of cholesterol import GO:0060621 9.65 APOA2 APOC3
47 triglyceride homeostasis GO:0070328 9.5 APOA1 APOA5 APOC3 APOE CETP LIPC
48 chylomicron remodeling GO:0034371 9.1 APOA1 APOA2 APOB APOC3 APOE LPL
49 transport GO:0006810 10.29 APOA1 APOA2 APOA5 APOB APOC3 APOE
50 lipid metabolic process GO:0006629 10.22 APOA1 APOB APOC3 APOE CETP HMGCR

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

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.91 APOA1 APOA2 APOA5 APOB APOC3 APOE
2 heparin binding GO:0008201 9.88 APOA5 APOB APOE LIPC LPL
3 phospholipid binding GO:0005543 9.8 APOA1 APOA2 APOA5 APOB APOC3 APOE
4 phosphatidylcholine binding GO:0031210 9.73 APOA1 APOA2 APOA5 CETP
5 low-density lipoprotein particle receptor binding GO:0050750 9.69 APOA5 APOB APOE
6 triglyceride lipase activity GO:0004806 9.67 LIPC LIPE LPL
7 lipase inhibitor activity GO:0055102 9.63 APOA1 APOA2 APOC3
8 apolipoprotein binding GO:0034185 9.6 LIPC LPL
9 phospholipid transporter activity GO:0005548 9.59 APOA1 CETP
10 phospholipase activity GO:0004620 9.58 LIPC LPL
11 lipase activity GO:0016298 9.58 LIPC LIPE
12 high-density lipoprotein particle receptor binding GO:0070653 9.58 APOA1 APOA2 APOC3
13 high-density lipoprotein particle binding GO:0008035 9.57 APOA1 APOA2
14 lipase binding GO:0035473 9.56 APOA5 APOB
15 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.56 APOA1 APOA2 APOA5 APOE
16 lipoprotein particle binding GO:0071813 9.55 APOA1 APOE
17 lipid transporter activity GO:0005319 9.55 APOA1 APOA2 APOB APOE CETP
18 apolipoprotein receptor binding GO:0034190 9.54 APOA1 APOA2
19 triglyceride binding GO:0017129 9.52 CETP LPL
20 cholesterol binding GO:0015485 9.43 APOA1 APOA2 APOA5 APOC3 APOE CETP
21 cholesterol transporter activity GO:0017127 9.1 APOA1 APOA2 APOA5 APOB APOE CETP

Sources for Hyperlipidemia, Familial Combined

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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