MCID: HYP614
MIFTS: 57

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 53 28 41 69
Familial Combined Hyperlipidemia 53 12 36 14
Combined Hyperlipidemia, Familial 53 72 13
Mixed Hyperlipidemia 12 51 69
Hyperbetalipoproteinemia with Prebetalipoproteinemia 12
Familial Multiple Lipoprotein-Type Hyperlipidemia 12
Familial Combined Hyperlipidemia [ambiguous] 12
Hyperlipidemia Familial Combined 51
Type Iib Hyperlipoproteinemia 12
Hyperlipoproteinemia Type Iib 69
Mixed Hyperlipidaemia 12
Fchl 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant (11q23-q24)


HPO:

31
hyperlipidemia, familial combined:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hyperlipidemia, Familial Combined

OMIM : 53 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 familial combined hyperlipidemia, is related to hyperlipidemia, combined, 1 and hyperlipoproteinemia, type v, and has symptoms including myocardial infarction, xanthelasma and increased circulating low-density lipoprotein levels. 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, testes and endothelial, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

Wikipedia : 72 Combined hyperlipidemia (or -aemia) (also known as multiple-type hyperlipoproteinemia) is a commonly... more...

Related Diseases for Hyperlipidemia, Familial Combined

Diseases in the Hyperlipidemia, Familial Combined family:

Hyperlipidemia, Combined, 1 Hyperlipidemia, Combined, 2

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

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 hyperlipidemia, combined, 1 32.7 LPL USF1
2 hyperlipoproteinemia, type v 31.5 APOA5 APOE LPL
3 atherosclerosis susceptibility 31.1 APOA1 APOB APOE HMGCR LPL
4 recurrent acute pancreatitis 30.2 APOE LPL
5 arteries, anomalies of 29.7 APOA1 APOB APOE
6 hyperlipoproteinemia, type iii 29.0 APOA1 APOA5 APOB APOE HMGCR LPL
7 hypercholesterolemia, familial 28.3 APOA1 APOB APOC3 APOE HMGCR LPL
8 hypertriglyceridemia, familial 28.0 APOA1 APOA5 APOB APOC3 APOE LPL
9 coronary artery anomaly 27.8 APOA1 APOA5 APOB APOC3 APOE HMGCR
10 body mass index quantitative trait locus 11 27.2 APOA1 APOA5 APOB APOC3 APOE LIPE
11 hyperlipidemia, combined, 2 11.3
12 dysbaric osteonecrosis 10.3 APOA1 APOB
13 xanthoma disseminatum 10.3 APOB APOE
14 hypercholesterolemia, autosomal dominant, type b 10.3 APOB APOE
15 lipoprotein glomerulopathy 10.2 APOB APOE
16 familial lcat deficiency 10.2 APOA1 APOE
17 vitamin e, familial isolated deficiency of 10.2 APOA1 APOB
18 cerebral atherosclerosis 10.2 APOA1 APOE
19 fetal macrosomia 10.2 APOA1 APOB
20 schnyder corneal dystrophy 10.2 APOB APOE
21 chylomicron retention disease 10.2 APOA1 APOB
22 familial lipoprotein lipase deficiency 10.1 APOA5 LPL
23 defective apolipoprotein b-100 10.1 APOB APOE HMGCR
24 hepatic lipase deficiency 10.0 APOA1 APOE LPL
25 hemorrhage, intracerebral 10.0 APOE HMGCR
26 inherited metabolic disorder 10.0 APOA1 APOB USF1
27 leukodystrophy, hypomyelinating, 3 10.0 APOA1 APOB APOE
28 hypobetalipoproteinemia, familial, 1 10.0 APOA1 APOB APOE
29 arcus corneae 10.0 APOA1 APOB APOE
30 coronary stenosis 10.0 APOA1 APOB APOE
31 carotid artery disease 10.0 APOA1 APOB APOE
32 gallbladder disease 10.0 APOA1 APOB APOE
33 tangier disease 10.0 APOA1 APOB APOE
34 cerebrovascular disease 10.0 APOA1 APOB APOE
35 acute pancreatitis 9.9
36 pancreatitis 9.9
37 smith-lemli-opitz syndrome 9.9 APOE HMGCR
38 stroke, ischemic 9.9 APOB APOE HMGCR
39 sitosterolemia 9.9 APOB HMGCR
40 homozygous familial hypercholesterolemia 9.9 APOB APOE HMGCR LPL
41 hypertension, essential 9.8 APOA1 APOB LPL
42 xanthomatosis 9.8 APOB APOE HMGCR LPL
43 ischemic heart disease 9.8 APOA1 APOB APOE LPL
44 hypolipoproteinemia 9.8 APOA1 APOB APOE LPL
45 abetalipoproteinemia 9.8 APOA1 APOB APOE LPL
46 aging 9.8
47 body mass index quantitative trait locus 9 9.8
48 body mass index quantitative trait locus 8 9.8
49 body mass index quantitative trait locus 4 9.8
50 body mass index quantitative trait locus 10 9.8

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:

53
Cardiac:
myocardial infarction

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

Skin:
xanthomas are rare


Clinical features from OMIM:

144250

Human phenotypes related to Hyperlipidemia, Familial Combined:

31
# Description HPO Frequency HPO Source Accession
1 myocardial infarction 31 HP:0001658
2 xanthelasma 31 occasional (7.5%) HP:0001114
3 increased circulating low-density lipoprotein levels 31 HP:0003141
4 increased circulating very-low-density lipoprotein levels 31 HP:0003362

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.5 APOA1 APOA5 APOB APOC3 APOE HMGCR
2 Increased LDL uptake GR00340-A-1 8.8 APOA1 APOE LPL

MGI Mouse Phenotypes related to Hyperlipidemia, Familial Combined:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.43 APOA1 APOB APOE HMGCR LIPE LPL
2 muscle MP:0005369 9.02 APOB APOE LIPE LPL RXRG

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)
# 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, Investigational, 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, Investigational 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
Clopidogrel Approved Phase 1 120202-66-6, 113665-84-2 60606
40
Ticlopidine Approved Phase 1 55142-85-3 5472
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 47)

# 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 A Study to Evaluate Daily Pravastatin, Fenofibrate or Pravafen in the Treatment of Combined Hyperlipidemia Completed NCT00459745 Phase 3 Pravafen (combination of Pravastatin and Fenofibrate)
28 Carotid B-mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrapib/Atorvastatin to Atorvastatin. Terminated NCT00134238 Phase 3 torcetrapib/atorvastatin;atorvastatin
29 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
30 A Pilot Study to Evaluate the Lipid Effects of TRIA-662 Completed NCT02008084 Phase 2 TRIA-662;Placebo
31 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
32 Trial of Antroquinonol in Patients With Hypercholesterolemia and Hyperlipidemia Recruiting NCT02719028 Phase 2 Antroquinonol;placebo
33 MK0859 Dose-Ranging Study (0859-003) Terminated NCT00325455 Phase 2 MK0859
34 A Study of MK0859 in Patients With Primary Hypercholesterolemia or Mixed Hyperlipidemia (MK-0859-011)(COMPLETED) Completed NCT00565292 Phase 1 MK0859
35 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
36 The Effects of a Mediterranean Diet in Pediatric Hyperlipidemia Completed NCT01308710 Phase 1
37 Comparison of the Efficacy and Safety of AtorVastatin mOnotherapy vs. Combination Atorvastatin/Fenofibric Acid Unknown status NCT01974297 Atorvastatin 10mg, fenofibric acid 135mg;atorvastatin 20mg
38 Low Carbohydrate Diet - Effect on Plasma Lipids and Metabolic Markers Unknown status NCT01476436
39 Understanding the Genetic Basis of Familial Combined Hyperlipidemia in Mexican Individuals Completed NCT00365235
40 Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia Completed NCT00005313
41 Evaluation of Non-invasive Measurements of Atherosclerosis in Cardiovascular Risk Stratification Completed NCT01555294
42 Inflammatory Aspects of Glucose in Hyperlipidemia and Diabetes Completed NCT02130505
43 Effects of FXR Activation on Hepatic Lipid and Glucose Metabolism Completed NCT00465751 Early Phase 1 chenodeoxycholic acid;placebo capsules
44 Genetic Epidemiology of Hypertriglyceridemia Completed NCT00005368
45 Quantitative Genetic Analysis of Lipid Research Clinic Family Data Completed NCT00005188
46 Effect of Weight Loss on Cholesterol Metabolism in Hereditary Hypercholesterolemias and Overweight or Obesity. Completed NCT01995149
47 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:

# Genetic test Affiliating Genes
1 Hyperlipidemia, Familial Combined 28 LPL

Anatomical Context for Hyperlipidemia, Familial Combined

MalaCards organs/tissues related to Hyperlipidemia, Familial Combined:

38
Heart, Testes, Endothelial

Publications for Hyperlipidemia, Familial Combined

Articles related to Hyperlipidemia, Familial Combined:

(show top 50) (show all 279)
# Title Authors Year
1
Contribution of mutations in low density lipoprotein receptor (LDLR) and lipoprotein lipase (LPL) genes to familial combined hyperlipidemia (FCHL): a reappraisal by using a resequencing approach. ( 26342331 )
2015
2
Glucose-dependent leukocyte activation in patients with type 2 diabetes mellitus, familial combined hyperlipidemia and healthy controls. ( 25456098 )
2015
3
Identification of the differentially expressed genes associated with familial combined hyperlipidemia using bioinformatics analysis. ( 25625967 )
2015
4
Determinants of VLDL composition and apo B-containing particles in familial combined hyperlipidemia. ( 25172037 )
2014
5
Factors associated with postprandial lipemia and apolipoprotein A-V levels in individuals with familial combined hyperlipidemia. ( 25425215 )
2014
6
Association of USF1 and APOA5 polymorphisms with Familial Combined Hyperlipidemia in an Italian population. ( 25308402 )
2014
7
Familial combined hyperlipidemia: from molecular insights to tailored therapy. ( 24811296 )
2014
8
Vitamin D concentrations in familial combined hyperlipidemia: effects of lipid lowering treatment. ( 24450309 )
2014
9
Common Genetic Variants Contribute to Primary Hypertriglyceridemia without Differences between Familial Combined Hyperlipidemia and Isolated Hypertriglyceridemia. ( 25176936 )
2014
10
Statin therapy and risk of diabetes in patients with heterozygous familial hypercholesterolemia or familial combined hyperlipidemia. ( 25238223 )
2014
11
Bile acid synthesis precursors in familial combined hyperlipidemia: The oxysterols 24S-hydroxycholesterol and 27-hydroxycholesterol. ( 24406166 )
2014
12
Serum lipid responses to weight loss differ between overweight adults with familial hypercholesterolemia and those with familial combined hyperlipidemia. ( 24899155 )
2014
13
Plasma proprotein convertase subtilisin kexin type 9 levels are related to markers of cholesterol synthesis in familial combined hyperlipidemia. ( 23333725 )
2013
14
Association of RXR-Gamma Gene Variants with Familial Combined Hyperlipidemia: Genotype and Haplotype Analysis. ( 24222859 )
2013
15
Impact of cardiometabolic risk factors on major cardiovascular events in patients with familial combined hyperlipidemia. ( 23018766 )
2013
16
CDKN2B expression in adipose tissue of familial combined hyperlipidemia patients. ( 24103848 )
2013
17
MTP gene polymorphisms and postprandial lipemia in familial combined hyperlipidemia: Effects of treatment with atorvastatin. ( 24378322 )
2013
18
Pathway analysis detect potential mechanism for familial combined hyperlipidemia. ( 23877856 )
2013
19
Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia. ( 22481068 )
2012
20
Potential role of upstream stimulatory factor 1 gene variant in familial combined hyperlipidemia and related disorders. ( 22460558 )
2012
21
Arterial endothelial function and wall thickness in familial hypercholesterolemia and familial combined hyperlipidemia and the effect of statins. A systematic review and meta-analysis. ( 21074770 )
2011
22
S323I polymorphism of the C5L2 gene was not identified in a Chinese population with familial combined hyperlipidemia or with type 2 diabetes. ( 22194190 )
2011
23
Iron deposits and dietary patterns in familial combined hyperlipidemia and familial hypertriglyceridemia. ( 20645139 )
2010
24
Serum ferritin is a major determinant of lipid phenotype in familial combined hyperlipidemia and familial hypertriglyceridemia. ( 19913843 )
2010
25
Genetic variants in adipose triglyceride lipase influence lipid levels in familial combined hyperlipidemia. ( 20832801 )
2010
26
Increased plasma xanthine oxidase activity is related to nuclear factor kappa beta activation and inflammatory markers in familial combined hyperlipidemia. ( 19765958 )
2010
27
FABP4 plasma levels are increased in familial combined hyperlipidemia. ( 20388924 )
2010
28
Novel drugs in familial combined hyperlipidemia: lessons from type 2 diabetes mellitus. ( 20739883 )
2010
29
A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia. ( 19816713 )
2010
30
Unilateral retinal emboli in a patient with familial combined hyperlipidemia. ( 20408099 )
2010
31
Familial combined hyperlipidemia is associated with alterations in the cholesterol synthesis pathway. ( 19834104 )
2010
32
Carotid distension and distensibility impairment in individuals affected by familial combined hyperlipidemia. ( 20542511 )
2010
33
Small and dense LDL in familial combined hyperlipidemia and N291S polymorphism of the lipoprotein lipase gene. ( 19335919 )
2009
34
New technologies for delineating and characterizing the lipid exome: prospects for understanding familial combined hyperlipidemia. ( 19023136 )
2009
35
Serum adiponectin is decreased in patients with familial combined hyperlipidemia and normolipaemic relatives and is influenced by lipid-lowering treatment. ( 19632099 )
2009
36
Increased arterial stiffness in familial combined hyperlipidemia. ( 19402225 )
2009
37
Small dense low-density lipoprotein in familial combined hyperlipidemia: Independent of metabolic syndrome and related to history of cardiovascular events. ( 18760784 )
2009
38
Endothelial haemostatic markers in members of families with familial combined hyperlipidemia. ( 18417194 )
2009
39
Small dense LDL-cholesterol determined by a simple precipitation assay for screening familial combined hyperlipidemia. ( 19201411 )
2009
40
A systems genetics approach implicates USF1, FADS3, and other causal candidate genes for familial combined hyperlipidemia. ( 19750004 )
2009
41
Relationship between familial combined hyperlipidemia and insulin resistance. ( 19069677 )
2008
42
Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting. ( 19007590 )
2008
43
Altered vascular responses to circulating angiotensin II in familial combined hyperlipidemia. ( 18799967 )
2008
44
Frequent detection of familial hypercholesterolemia mutations in familial combined hyperlipidemia. ( 19007591 )
2008
45
Plasma PAI-1 levels are independently related to fatty liver and hypertriglyceridemia in familial combined hyperlipidemia, involvement of apolipoprotein E. ( 18262228 )
2008
46
Tumor necrosis factor-alpha is a marker of familial combined hyperlipidemia, independently of metabolic syndrome. ( 18328361 )
2008
47
Paraoxonase (PON1) is associated with familial combined hyperlipidemia. ( 18096166 )
2008
48
Monocyte gene-expression profile in men with familial combined hyperlipidemia and its modification by atorvastatin treatment. ( 18681780 )
2008
49
Insulin resistance and oxidative stress in familial combined hyperlipidemia. ( 18164710 )
2008
50
Adiponectin multimer distribution in patients with familial combined hyperlipidemia. ( 18762168 )
2008

Variations for Hyperlipidemia, Familial Combined

ClinVar genetic disease variations for Hyperlipidemia, Familial Combined:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LPL LPL, -39T-C, PROMOTER 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, PROMOTER 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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 APOA1 APOA5 APOB APOC3 APOE HMGCR
2
Show member pathways
12.58 APOA1 APOA5 HMGCR LPL
3
Show member pathways
12.37 APOA1 APOB APOC3 APOE LPL
4
Show member pathways
12.04 APOA1 APOA5 APOB APOC3 APOE LIPE
5
Show member pathways
12.03 APOA1 APOB APOE
6
Show member pathways
11.99 APOA1 APOB APOC3 APOE LPL
7 11.75 LIPE LPL RXRG
8 11.71 APOA1 APOA5 APOE
9
Show member pathways
11.6 APOA1 APOB APOE
10 11.41 APOA1 APOA5 APOC3 LPL RXRG
11
Show member pathways
11.24 APOA1 APOA5 APOB APOC3 APOE HMGCR
12
Show member pathways
11.19 APOA1 APOB
13 11.18 LPL RXRG
14 10.91 APOA1 APOA5 APOC3
15 10.87 APOA1 APOB

GO Terms for Hyperlipidemia, Familial Combined

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.99 APOA1 APOA5 APOB APOC3 APOE LPL
2 extracellular matrix GO:0031012 9.8 APOA1 APOC3 APOE LPL
3 endoplasmic reticulum lumen GO:0005788 9.76 APOA1 APOA5 APOB APOE
4 early endosome GO:0005769 9.73 APOA1 APOB APOC3 APOE
5 blood microparticle GO:0072562 9.7 APOA1 APOA5 APOE
6 low-density lipoprotein particle GO:0034362 9.56 APOA1 APOA5 APOB APOE
7 clathrin-coated endocytic vesicle membrane GO:0030669 9.54 APOB APOE
8 high-density lipoprotein particle GO:0034364 9.54 APOA1 APOA5 APOE
9 endocytic vesicle lumen GO:0071682 9.5 APOA1 APOB APOE
10 spherical high-density lipoprotein particle GO:0034366 9.48 APOA1 APOC3
11 intermediate-density lipoprotein particle GO:0034363 9.46 APOA1 APOB APOC3 APOE
12 very-low-density lipoprotein particle GO:0034361 9.43 APOA1 APOA5 APOB APOC3 APOE LPL
13 discoidal high-density lipoprotein particle GO:0034365 9.4 APOA1 APOE
14 chylomicron GO:0042627 9.1 APOA1 APOA5 APOB APOC3 APOE LPL
15 extracellular region GO:0005576 10.02 APOA1 APOA5 APOB APOC3 APOE LPL

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

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.97 APOA1 APOA5 APOB APOE
2 lipid transport GO:0006869 9.95 APOA1 APOA5 APOB APOC3 APOE
3 cellular protein metabolic process GO:0044267 9.93 APOA1 APOA5 APOB APOE
4 steroid metabolic process GO:0008202 9.92 APOA1 APOB APOE HMGCR LIPE
5 lipid catabolic process GO:0016042 9.91 APOB APOC3 LIPE LPL
6 cholesterol metabolic process GO:0008203 9.89 APOA1 APOB APOE HMGCR LIPE
7 receptor-mediated endocytosis GO:0006898 9.87 APOA1 APOB APOE
8 retinoid metabolic process GO:0001523 9.85 APOA1 APOB APOC3 APOE LPL
9 triglyceride metabolic process GO:0006641 9.84 APOA5 APOC3 APOE LPL
10 regulation of lipid metabolic process GO:0019216 9.83 APOA1 APOA5 HMGCR
11 cholesterol biosynthetic process GO:0006695 9.79 APOA1 APOA5 HMGCR
12 high-density lipoprotein particle remodeling GO:0034375 9.78 APOA1 APOC3 APOE
13 reverse cholesterol transport GO:0043691 9.78 APOA1 APOA5 APOC3 APOE
14 high-density lipoprotein particle assembly GO:0034380 9.77 APOA1 APOA5 APOE
15 positive regulation of cholesterol esterification GO:0010873 9.77 APOA1 APOA5 APOE
16 triglyceride homeostasis GO:0070328 9.77 APOA1 APOA5 APOC3 APOE LPL
17 chylomicron remnant clearance GO:0034382 9.76 APOB APOC3 APOE
18 neuron projection regeneration GO:0031102 9.75 APOA1 APOA5 APOE
19 regulation of Cdc42 protein signal transduction GO:0032489 9.74 APOA1 APOC3 APOE
20 lipoprotein biosynthetic process GO:0042158 9.73 APOA1 APOB APOE
21 phospholipid efflux GO:0033700 9.73 APOA1 APOA5 APOC3 APOE
22 lipoprotein metabolic process GO:0042157 9.72 APOA1 APOA5 APOB APOC3 APOE
23 chylomicron assembly GO:0034378 9.71 APOA1 APOB APOC3 APOE
24 negative regulation of MAP kinase activity GO:0043407 9.7 APOE HMGCR
25 regulation of cholesterol biosynthetic process GO:0045540 9.7 APOB HMGCR
26 lipid homeostasis GO:0055088 9.69 APOE USF1
27 cholesterol transport GO:0030301 9.69 APOA1 APOB
28 artery morphogenesis GO:0048844 9.68 APOB APOE
29 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.68 APOB LPL
30 low-density lipoprotein particle remodeling GO:0034374 9.68 APOB APOE
31 positive regulation of fatty acid biosynthetic process GO:0045723 9.68 APOA1 APOA5
32 very-low-density lipoprotein particle assembly GO:0034379 9.67 APOB APOC3
33 positive regulation of lipoprotein lipase activity GO:0051006 9.67 APOA1 APOA5
34 high-density lipoprotein particle clearance GO:0034384 9.66 APOA1 APOE
35 positive regulation of triglyceride catabolic process GO:0010898 9.65 APOA1 APOA5
36 positive regulation of cholesterol storage GO:0010886 9.65 APOB LPL
37 very-low-density lipoprotein particle remodeling GO:0034372 9.65 APOE LPL
38 cholesterol efflux GO:0033344 9.65 APOA1 APOA5 APOB APOC3 APOE
39 very-low-density lipoprotein particle clearance GO:0034447 9.64 APOB APOE
40 regulation of intestinal cholesterol absorption GO:0030300 9.64 APOA1 APOA5
41 lipoprotein catabolic process GO:0042159 9.63 APOB APOE
42 cholesterol homeostasis GO:0042632 9.63 APOA1 APOA5 APOB APOC3 APOE LPL
43 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.62 APOA1 APOC3
44 chylomicron remodeling GO:0034371 9.35 APOA1 APOB APOC3 APOE LPL
45 triglyceride catabolic process GO:0019433 9.17 APOA1 APOA5 APOB APOC3 APOE LIPE
46 lipid metabolic process GO:0006629 10.05 APOA1 APOB APOC3 APOE HMGCR LIPE

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.73 APOA5 APOB APOE LPL
2 lipid binding GO:0008289 9.72 APOA1 APOA5 APOB APOC3 APOE
3 lipid transporter activity GO:0005319 9.58 APOA1 APOB APOE
4 cholesterol binding GO:0015485 9.56 APOA1 APOA5 APOC3 APOE
5 phosphatidylcholine binding GO:0031210 9.54 APOA1 APOA5
6 low-density lipoprotein particle receptor binding GO:0050750 9.54 APOA5 APOB APOE
7 triglyceride lipase activity GO:0004806 9.52 LIPE LPL
8 lipase inhibitor activity GO:0055102 9.51 APOA1 APOC3
9 lipase binding GO:0035473 9.49 APOA5 APOB
10 lipoprotein particle binding GO:0071813 9.48 APOA1 APOE
11 high-density lipoprotein particle receptor binding GO:0070653 9.46 APOA1 APOC3
12 phospholipid binding GO:0005543 9.35 APOA1 APOA5 APOB APOC3 APOE
13 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.33 APOA1 APOA5 APOE
14 cholesterol transporter activity GO:0017127 8.92 APOA1 APOA5 APOB APOE

Sources for Hyperlipidemia, Familial Combined

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....