FCHL
MCID: HYP614
MIFTS: 55

Hyperlipidemia, Familial Combined (FCHL)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hyperlipidemia, Familial Combined

MalaCards integrated aliases for Hyperlipidemia, Familial Combined:

Name: Hyperlipidemia, Familial Combined 58 76 45 41 74
Familial Combined Hyperlipidemia 58 12 76 38 15
Combined Hyperlipidemia, Familial 58 77 13
Fchl 58 76
Hyperbetalipoproteinemia with Prebetalipoproteinemia 12
Familial Multiple Lipoprotein-Type Hyperlipidemia 12
Type Iib Hyperlipoproteinemia 12
Hyperlipoproteinemia Type Iib 74
Mixed Hyperlipidaemia 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant (11q23-q24)


HPO:

33
hyperlipidemia, familial combined:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:13809
OMIM 58 144250
KEGG 38 H00153
MeSH 45 D006950
NCIt 51 C35637
SNOMED-CT 69 48190005
ICD10 34 E78.2 E78.4
MedGen 43 C0020474

Summaries for Hyperlipidemia, Familial Combined

OMIM : 58 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 atherosclerosis susceptibility. 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 Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and liver, and related phenotypes are xanthelasma and myocardial infarction

UniProtKB/Swiss-Prot : 76 Hyperlipidemia, familial combined: 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. FCHL inheritance is autosomal dominant.

Wikipedia : 77 Combined hyperlipidemia (or -aemia) is a commonly occurring form of hypercholesterolemia (elevated... 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 82)
# Related Disease Score Top Affiliating Genes
1 hyperlipidemia, combined, 1 32.0 APOA5 APOB APOC3 LPL USF1
2 atherosclerosis susceptibility 31.6 APOA1 APOB APOE LPA
3 hyperlipoproteinemia, type v 31.2 APOA1 APOA5 APOB APOE LPL
4 recurrent acute pancreatitis 30.3 APOE LPL
5 ischemic heart disease 29.8 APOA1 APOB APOE LPL
6 hypertriglyceridemia, familial 29.3 APOA1 APOA5 APOB APOC3 APOE LPL
7 arteries, anomalies of 29.0 APOA1 APOB APOE COG2 LPA
8 heart disease 28.9 APOA1 APOA5 APOB APOC3 APOE LPL
9 diabetes mellitus 28.7 APOA1 APOA5 APOB COG2 LPA LPL
10 hyperalphalipoproteinemia 1 28.7 APOA1 APOA2 APOB APOC3 APOE LPL
11 hyperlipoproteinemia, type iii 28.6 APOA1 APOA5 APOB APOE COG2 LPA
12 coronary artery anomaly 28.6 APOA1 APOA5 APOB COG2 LPA LPL
13 hypercholesterolemia, familial 28.4 APOA1 APOA2 APOB APOC3 APOE COG2
14 diabetes mellitus, noninsulin-dependent 28.4 APOA1 APOA2 APOB APOC3 APOE COG2
15 coronary heart disease 1 27.4 APOA1 APOA2 APOA5 APOB APOC3 APOE
16 lipid metabolism disorder 27.1 APOA1 APOA5 APOB APOC3 APOE COG2
17 hyperlipidemia, combined, 2 11.5
18 dysbaric osteonecrosis 10.2 APOA1 APOB
19 fatty liver disease 10.2
20 xanthoma disseminatum 10.2 APOB APOE
21 hypercholesterolemia, autosomal dominant, type b 10.2 APOB APOE
22 fish-eye disease 10.2 APOA1 APOA2
23 hereditary amyloidosis 10.1 APOA1 APOA2
24 defective apolipoprotein b-100 10.1 APOB APOE
25 cerebral atherosclerosis 10.1 APOA1 APOE
26 arrhythmogenic right ventricular dysplasia, familial, 4 10.1 APOC3 LPA
27 sea-blue histiocyte disease 10.1 APOB APOE
28 fetal macrosomia 10.1 APOA1 APOB
29 amyloidosis aa 10.1 APOA1 LPA
30 aging 10.1
31 homozygous familial hypercholesterolemia 10.1 APOB APOE
32 chylomicron retention disease 10.1 APOA1 APOB
33 pellagra 10.1 LPA LPL
34 acute pancreatitis 10.1
35 pancreatitis 10.1
36 bardet-biedl syndrome 2 10.0 APOA1 APOC3 LPL
37 vitamin e, familial isolated deficiency of 10.0 APOA1 APOB
38 hepatic lipase deficiency 10.0 APOA1 APOE LPL
39 nuchal bleb, familial 10.0
40 liver disease 10.0
41 nonalcoholic fatty liver disease 10.0
42 coronary stenosis 10.0 APOA1 APOB APOE
43 gallbladder disease 10.0 APOA1 APOB APOE
44 peripheral vascular disease 9.9 APOA1 APOB LPA
45 aortic atherosclerosis 9.9 APOE LPA
46 cerebrovascular disease 9.9 APOA1 APOB APOE
47 hypobetalipoproteinemia, familial, 1 9.9 APOB COG2
48 schnyder corneal dystrophy 9.9 APOA2 APOB APOE
49 familial lcat deficiency 9.9 APOA1 APOA2 APOE
50 familial lipoprotein lipase deficiency 9.9 APOA5 APOC3 LPL

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



Diseases related to Hyperlipidemia, Familial Combined

Symptoms & Phenotypes for Hyperlipidemia, Familial Combined

Human phenotypes related to Hyperlipidemia, Familial Combined:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 xanthelasma 33 occasional (7.5%) HP:0001114
2 myocardial infarction 33 HP:0001658
3 increased ldl cholesterol concentration 33 HP:0003141
4 increased vldl cholesterol concentration 33 HP:0003362
5 elevated apolipoprotein b level 33 HP:0031798
6 elevated apolipoprotein a-ii level 33 HP:0031800

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
myocardial infarction

Skin:
xanthomas are rare

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

Clinical features from OMIM:

144250

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.5 APOA1 APOA5 APOB APOC3 APOE LPA
2 Increased LDL uptake GR00340-A-1 8.8 APOA1 APOE 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)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fenofibrate Approved Phase 4,Phase 3,Not Applicable 49562-28-9 3339
2
Nicotinamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 98-92-0 936
3
Ezetimibe Approved Phase 4,Phase 3 163222-33-1 150311
4
Simvastatin Approved Phase 4,Phase 3 79902-63-9 54454
5
Lovastatin Approved, Investigational Phase 4 75330-75-5 53232
6
Niacin Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 59-67-6 938
7
Calcium Approved, Nutraceutical Phase 4,Phase 3 7440-70-2 271
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-30-3 6037
9 Nicotinic Acids Phase 4,Phase 3,Phase 2,Phase 1
10 Rosuvastatin Calcium Phase 4 147098-20-2
11 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1
12 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
13 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
14 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 Calcium, Dietary Phase 4,Phase 3
16 Vitamin B9 Phase 4,Phase 3,Phase 2,Phase 1
17 Folate Phase 4,Phase 3,Phase 2,Phase 1
18 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
20 Vitamin B3 Phase 4,Phase 3,Phase 2,Phase 1
21 Nutrients Phase 4,Phase 3,Phase 2,Phase 1
22 Vitamin B Complex Phase 4,Phase 3,Phase 2,Phase 1
23 Vitamins Phase 4,Phase 3,Phase 2,Phase 1
24 Vasodilator Agents Phase 4,Phase 3,Phase 1
25 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1
26 Omega 3 Fatty Acid Phase 4,Phase 3,Phase 1
27 Colesevelam Hydrochloride Phase 4
28 Ezetimibe, Simvastatin Drug Combination Phase 4,Phase 3
29 Dihydromevinolin Phase 4
30 L 647318 Phase 4
31
Atorvastatin Approved Phase 3,Phase 2,Not Applicable 134523-00-5 60823
32
Pravastatin Approved Phase 3 81093-37-0 54687
33
Ursodeoxycholic acid Approved, Investigational Phase 3 128-13-2 31401
34
Bezafibrate Approved, Investigational Phase 3 41859-67-0 39042
35
Torcetrapib Investigational Phase 3 262352-17-0 159325
36 Gastrointestinal Agents Phase 3,Early Phase 1
37 Cholagogues and Choleretics Phase 3
38
Anacetrapib Investigational Phase 2,Phase 1 875446-37-0
39 Ubiquinone Phase 2
40
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
41
Clopidogrel Approved Phase 1 120202-66-6, 113665-84-2 60606
42 Fibrinolytic Agents Phase 1
43 Antipyretics Phase 1
44 Neurotransmitter Agents Phase 1
45 Peripheral Nervous System Agents Phase 1
46 Anti-Inflammatory Agents Phase 1
47 Platelet Aggregation Inhibitors Phase 1
48 Analgesics, Non-Narcotic Phase 1
49 Cyclooxygenase Inhibitors Phase 1
50 Antirheumatic Agents Phase 1

Interventional clinical trials:

(show all 48)
# 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 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
4 Efficacy Study of Extended-Release Niacin/Lovastatin Versus Usual Care Completed NCT00345657 Phase 4 Niacin Extended Release/Lovastatin
5 Effect of Fenofibrate on Endothelial Function and High-density Lipoproteins (HDL)in Patients With Coronary Heart Disease Completed NCT00552747 Phase 4 fenofibrate;placebo
6 Effect of Rosuvastatin on Triglyceride Levels in Mexican Hypertriglyceridemic Patients Completed NCT00473655 Phase 4 rosuvastatin
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 Carotid B-mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrapib/Atorvastatin to Atorvastatin. Terminated NCT00134238 Phase 3 torcetrapib/atorvastatin;atorvastatin
15 Lipid Efficacy Study (0524B-022)(COMPLETED) Completed NCT00269217 Phase 3 niacin (+) laropiprant (+) simvastatin;Comparator: niacin (+) laropiprant;Comparator: simvastatin
16 Lipid Efficacy/Tolerability Study (0524A-020) Completed NCT00269204 Phase 3 niacin (+) laropiprant;ER-niacin
17 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)
18 Effect of MK0524A on Cholesterol Levels (0524A-048) Completed NCT00536510 Phase 3 laropiprant/niacin (MK0524A);Comparator: placebo
19 Assess HDL-C Increase And Non-HDL Lowering Effect Of Torcetrapib/Atorvastatin Vs. Fenofibrate Completed NCT00139061 Phase 3 Torcetrapib/Atorvastatin;Fenofibrate
20 Tolerability of MK0524A Versus Niacin Extended-Release (0524A-054) Completed NCT00378833 Phase 3 niacin (+) laropiprant;niacin
21 Comparison of the Combination of Fenofibrate and 40 mg Simvastatin Versus 40 mg Simvastatin Monotherapy Completed NCT00352183 Phase 3 Fenofibrate/Simvastatin;Simvastatin
22 Comparison of the Combination of Fenofibrate and 20 mg Simvastatin Versus 40 mg Simvastatin Monotherapy Completed NCT00349375 Phase 3 Fenofibrate/Simvastatin;Fenofibrate/Simvastatin;Simvastatin
23 Comparison of the Combination of Fenofibrate and Simvastatin Versus Atorvastatin Completed NCT00362934 Phase 3 fenofibrate / simvastatin;Atorvastatin
24 Effect of an Investigational Compound on Tolerability of Extended Release Niacin (0524A-023)(COMPLETED) Completed NCT00376584 Phase 3 MK-0524A;ER Niacin;Placebo
25 Comparison of the Combination of Fenofibrate and Simvastatin Versus Pravastatin Completed NCT00362206 Phase 3 Fenofibrate/Simvastatin;Fenofibrate/Simvastatin;Pravastatin
26 A Study to Evaluate the Lipid Regulating Effects of 1-Methylnicotinamide (1-MNA) Completed NCT00519714 Phase 2, Phase 3
27 Phase 3 Study of Bezafibrate in Combination With Ursodeoxycholic Acid in Primary Biliary Cirrhosis Completed NCT01654731 Phase 3 Bezafibrate;placebo
28 A Study to Evaluate Daily Pravastatin, Fenofibrate or Pravafen in the Treatment of Combined Hyperlipidemia Completed NCT00459745 Phase 3 Pravafen;Pravastatin;Fenofibrate
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 MK0859 Dose-Ranging Study (0859-003) Terminated NCT00325455 Phase 2 MK0859
32 Trial of Antroquinonol in Patients With Hypercholesterolemia and Hyperlipidemia Completed NCT02719028 Phase 2 Antroquinonol;placebo
33 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
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 Not Applicable Atorvastatin 10mg, fenofibric acid 135mg;atorvastatin 20mg
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 Not Applicable
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 Low Carbohydrate Diet - Effect on Plasma Lipids and Metabolic Markers Completed NCT01476436 Not Applicable
45 Genomic Dissection of a QTL Affecting the Lipid Profile Withdrawn NCT00064688
46 Quantitative Genetic Analysis of Lipid Research Clinic Family Data Completed NCT00005188
47 Effect of Weight Loss on Cholesterol Metabolism in Hereditary Hypercholesterolemias and Overweight or Obesity. Completed NCT01995149 Not Applicable
48 Effect of Low-Fat Compared to Low-Carbohydrate Diet in Subjects With Multifactorial Chylomicronemia Recruiting NCT03898609 Not Applicable

Search NIH Clinical Center for Hyperlipidemia, Familial Combined

Cochrane evidence based reviews: hyperlipidemia, familial combined

Genetic Tests for Hyperlipidemia, Familial Combined

Anatomical Context for Hyperlipidemia, Familial Combined

MalaCards organs/tissues related to Hyperlipidemia, Familial Combined:

42
Heart, Testes, Liver, Endothelial, Lung, Skin, Adipocyte

Publications for Hyperlipidemia, Familial Combined

Articles related to Hyperlipidemia, Familial Combined:

(show top 50) (show all 301)
# Title Authors Year
1
PAI-1 levels are related to insulin resistance and carotid atherosclerosis in subjects with familial combined hyperlipidemia. ( 28822973 )
2018
2
Vascular inflammation and metabolic activity in hematopoietic organs and liver in familial combined hyperlipidemia and heterozygous familial hypercholesterolemia. ( 29174439 )
2018
3
Statin Therapy and Risk of Diabetes Mellitus in Aging Patients With Heterozygous Familial Hypercholesterolemia or Familial Combined Hyperlipidemia: A 10-Year Follow-Up. ( 28681648 )
2018
4
Cholesterol oversynthesis markers define familial combined hyperlipidemia versus other genetic hypercholesterolemias independently of body weight. ( 29190549 )
2018
5
Performance of LDL-C calculated with Martin's formula compared to the Friedewald equation in familial combined hyperlipidemia. ( 29970255 )
2018
6
Calculating LDL cholesterol in familial combined hyperlipidemia: Out with the old, in with the new? ( 30166207 )
2018
7
FAMILIAL COMBINED HYPERLIPIDEMIA: CURRENT KNOWLEDGE, PERSPECTIVES, AND CONTROVERSIES. ( 30307446 )
2018
8
Incidence of cardiovascular disease in familial combined hyperlipidemia: A 15-year follow-up study. ( 30448567 )
2018
9
Molecular mechanisms, prevalence, and molecular methods for familial combined hyperlipidemia disease: A review. ( 30556165 )
2018
10
Familial combined hyperlipidemia and hyperlipoprotein(a) as phenotypic mimics of familial hypercholesterolemia: Frequencies, associations and predictions. ( 27919349 )
2016
11
Infusion of angiotensin II increases fibrinolysis in healthy individuals but not in patients with familial combined hyperlipidemia. ( 26340459 )
2016
12
Determinants of VLDL composition and apo B-containing particles in familial combined hyperlipidemia. ( 25172037 )
2015
13
Association of USF1 and APOA5 polymorphisms with familial combined hyperlipidemia in an Italian population. ( 25308402 )
2015
14
Glucose-dependent leukocyte activation in patients with type 2 diabetes mellitus, familial combined hyperlipidemia and healthy controls. ( 25456098 )
2015
15
Identification of the differentially expressed genes associated with familial combined hyperlipidemia using bioinformatics analysis. ( 25625967 )
2015
16
Decreased plasma endogenous soluble RAGE, and enhanced adipokine secretion, oxidative stress and platelet/coagulative activation identify non-alcoholic fatty liver disease among patients with familial combined hyperlipidemia and/or metabolic syndrome. ( 26117210 )
2015
17
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
18
Effects of Armolipid Plus on small dense LDL particles in a sample of patients affected by familial combined hyperlipidemia. ( 27066111 )
2015
19
Serum lipid responses to weight loss differ between overweight adults with familial hypercholesterolemia and those with familial combined hyperlipidemia. ( 24899155 )
2014
20
Statin therapy and risk of diabetes in patients with heterozygous familial hypercholesterolemia or familial combined hyperlipidemia. ( 25238223 )
2014
21
MTP gene polymorphisms and postprandial lipemia in familial combined hyperlipidemia: effects of treatment with atorvastatin. ( 24378322 )
2014
22
Bile acid synthesis precursors in familial combined hyperlipidemia: the oxysterols 24S-hydroxycholesterol and 27-hydroxycholesterol. ( 24406166 )
2014
23
Vitamin D concentrations in familial combined hyperlipidemia: effects of lipid lowering treatment. ( 24450309 )
2014
24
Familial combined hyperlipidemia: from molecular insights to tailored therapy. ( 24811296 )
2014
25
Common genetic variants contribute to primary hypertriglyceridemia without differences between familial combined hyperlipidemia and isolated hypertriglyceridemia. ( 25176936 )
2014
26
Factors associated with postprandial lipemia and apolipoprotein A-V levels in individuals with familial combined hyperlipidemia. ( 25425215 )
2014
27
Impact of cardiometabolic risk factors on major cardiovascular events in patients with familial combined hyperlipidemia. ( 23018766 )
2013
28
Plasma proprotein convertase subtilisin kexin type 9 levels are related to markers of cholesterol synthesis in familial combined hyperlipidemia. ( 23333725 )
2013
29
Pathway analysis detect potential mechanism for familial combined hyperlipidemia. ( 23877856 )
2013
30
CDKN2B expression in adipose tissue of familial combined hyperlipidemia patients. ( 24103848 )
2013
31
Association of RXR-Gamma Gene Variants with Familial Combined Hyperlipidemia: Genotype and Haplotype Analysis. ( 24222859 )
2013
32
Potential role of upstream stimulatory factor 1 gene variant in familial combined hyperlipidemia and related disorders. ( 22460558 )
2012
33
Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia. ( 22481068 )
2012
34
Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. ( 22962670 )
2012
35
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
36
S323I polymorphism of the C5L2 gene was not identified in a Chinese population with familial combined hyperlipidemia or with type 2 diabetes. ( 22194190 )
2011
37
Increased plasma xanthine oxidase activity is related to nuclear factor kappa beta activation and inflammatory markers in familial combined hyperlipidemia. ( 19765958 )
2010
38
A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia. ( 19816713 )
2010
39
Familial combined hyperlipidemia is associated with alterations in the cholesterol synthesis pathway. ( 19834104 )
2010
40
Serum ferritin is a major determinant of lipid phenotype in familial combined hyperlipidemia and familial hypertriglyceridemia. ( 19913843 )
2010
41
FABP4 plasma levels are increased in familial combined hyperlipidemia. ( 20388924 )
2010
42
Unilateral retinal emboli in a patient with familial combined hyperlipidemia. ( 20408099 )
2010
43
Carotid distension and distensibility impairment in individuals affected by familial combined hyperlipidemia. ( 20542511 )
2010
44
Iron deposits and dietary patterns in familial combined hyperlipidemia and familial hypertriglyceridemia. ( 20645139 )
2010
45
Novel drugs in familial combined hyperlipidemia: lessons from type 2 diabetes mellitus. ( 20739883 )
2010
46
Genetic variants in adipose triglyceride lipase influence lipid levels in familial combined hyperlipidemia. ( 20832801 )
2010
47
Endothelial haemostatic markers in members of families with familial combined hyperlipidemia. ( 18417194 )
2009
48
Small dense low-density lipoprotein in familial combined hyperlipidemia: Independent of metabolic syndrome and related to history of cardiovascular events. ( 18760784 )
2009
49
New technologies for delineating and characterizing the lipid exome: prospects for understanding familial combined hyperlipidemia. ( 19023136 )
2009
50
Small dense LDL-cholesterol determined by a simple precipitation assay for screening familial combined hyperlipidemia. ( 19201411 )
2009

Variations for Hyperlipidemia, Familial Combined

ClinVar genetic disease variations for Hyperlipidemia, Familial Combined:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LPL NM_000237.3(LPL): c.644G> A (p.Gly215Glu) single nucleotide variant Pathogenic rs118204057 GRCh37 Chromosome 8, 19811733: 19811733
2 LPL NM_000237.3(LPL): c.644G> A (p.Gly215Glu) single nucleotide variant Pathogenic rs118204057 GRCh38 Chromosome 8, 19954222: 19954222
3 LPL LPL, -39T-C, PROMOTER single nucleotide variant Pathogenic
4 LPL NM_000237.3(LPL): c.953A> G (p.Asn318Ser) single nucleotide variant Pathogenic rs268 GRCh37 Chromosome 8, 19813529: 19813529
5 LPL NM_000237.3(LPL): c.953A> G (p.Asn318Ser) single nucleotide variant Pathogenic rs268 GRCh38 Chromosome 8, 19956018: 19956018
6 LPL NM_000237.3(LPL): c.106G> A (p.Asp36Asn) single nucleotide variant Conflicting interpretations of pathogenicity, other, risk factor rs1801177 GRCh37 Chromosome 8, 19805708: 19805708
7 LPL NM_000237.3(LPL): c.106G> A (p.Asp36Asn) single nucleotide variant Conflicting interpretations of pathogenicity, other, risk factor rs1801177 GRCh38 Chromosome 8, 19948197: 19948197
8 LPL LPL, -93T-G, PROMOTER single nucleotide variant Pathogenic
9 LPL NM_000237.3(LPL): c.904T> C (p.Cys302Arg) single nucleotide variant Likely pathogenic rs1064797075 GRCh38 Chromosome 8, 19955969: 19955969
10 LPL NM_000237.3(LPL): c.904T> C (p.Cys302Arg) single nucleotide variant Likely pathogenic rs1064797075 GRCh37 Chromosome 8, 19813480: 19813480

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 APOA2 APOA5 APOB APOC3 APOE
2
Show member pathways
12.58 APOA1 APOA2 APOA5 LPL
3
Show member pathways
12.45 APOA1 APOA2 APOB APOC3 APOE LPL
4
Show member pathways
12.09 APOA1 APOA2 APOA5 APOB APOC3 APOE
5
Show member pathways
12.06 APOA1 APOA2 APOB APOC3 APOE LPL
6
Show member pathways
12.03 APOA1 APOB APOE
7 11.71 APOA1 APOA5 APOE
8
Show member pathways
11.6 APOA1 APOB APOE
9 11.42 APOA1 APOA2 APOA5 APOC3 LPL
10
Show member pathways
11.3 APOA1 APOA2 APOA5 APOB APOC3 APOE
11 11.23 APOB LPA
12
Show member pathways
11.18 APOA1 APOB
13 11.04 APOA1 APOA2 APOA5 APOC3
14 10.87 APOA1 APOB
15 10.76 APOA1 APOA2

GO Terms for Hyperlipidemia, Familial Combined

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.85 APOA1 APOA2 APOA5 APOB APOE
2 early endosome GO:0005769 9.8 APOA1 APOA2 APOB APOC3 APOE
3 collagen-containing extracellular matrix GO:0062023 9.72 APOA1 APOC3 APOE
4 blood microparticle GO:0072562 9.7 APOA1 APOA2 APOE
5 high-density lipoprotein particle GO:0034364 9.62 APOA1 APOA2 APOA5 APOE
6 endocytic vesicle lumen GO:0071682 9.61 APOA1 APOB APOE
7 extracellular vesicle GO:1903561 9.56 APOA1 APOE
8 low-density lipoprotein particle GO:0034362 9.56 APOA1 APOA5 APOB APOE
9 clathrin-coated endocytic vesicle membrane GO:0030669 9.54 APOB APOE
10 spherical high-density lipoprotein particle GO:0034366 9.54 APOA1 APOA2 APOC3
11 chylomicron GO:0042627 9.5 APOA1 APOA2 APOA5 APOB APOC3 APOE
12 discoidal high-density lipoprotein particle GO:0034365 9.49 APOA1 APOE
13 intermediate-density lipoprotein particle GO:0034363 9.46 APOA1 APOB APOC3 APOE
14 very-low-density lipoprotein particle GO:0034361 9.17 APOA1 APOA2 APOA5 APOB APOC3 APOE
15 extracellular region GO:0005576 10.08 APOA1 APOA2 APOA5 APOB APOC3 APOE
16 extracellular space GO:0005615 10.05 APOA1 APOA2 APOA5 APOB APOC3 APOE

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

(show top 50) (show all 52)
# Name GO ID Score Top Affiliating Genes
1 lipid transport GO:0006869 9.98 APOA1 APOA2 APOA5 APOB APOC3 APOE
2 retinoid metabolic process GO:0001523 9.95 APOA1 APOA2 APOB APOC3 APOE
3 cholesterol metabolic process GO:0008203 9.93 APOA1 APOA2 APOB APOE
4 triglyceride metabolic process GO:0006641 9.89 APOA2 APOA5 APOC3 APOE LPL
5 receptor-mediated endocytosis GO:0006898 9.88 APOA1 APOB APOE
6 triglyceride homeostasis GO:0070328 9.88 APOA1 APOA5 APOC3 APOE LPL
7 lipid catabolic process GO:0016042 9.87 APOB APOC3 LPL
8 steroid metabolic process GO:0008202 9.87 APOA1 APOB APOE
9 high-density lipoprotein particle remodeling GO:0034375 9.87 APOA1 APOA2 APOC3 APOE
10 cholesterol homeostasis GO:0042632 9.87 APOA1 APOA2 APOA5 APOB APOC3 APOE
11 regulation of lipid metabolic process GO:0019216 9.86 APOA1 APOA2 APOA5
12 low-density lipoprotein particle remodeling GO:0034374 9.86 APOA2 APOB APOE LPA
13 reverse cholesterol transport GO:0043691 9.85 APOA1 APOA2 APOA5 APOC3 APOE
14 high-density lipoprotein particle assembly GO:0034380 9.84 APOA1 APOA2 APOA5 APOE
15 cholesterol biosynthetic process GO:0006695 9.83 APOA1 APOA5 APOE
16 positive regulation of cholesterol esterification GO:0010873 9.83 APOA1 APOA2 APOA5 APOE
17 cholesterol transport GO:0030301 9.82 APOA1 APOA2 APOB
18 positive regulation of lipid biosynthetic process GO:0046889 9.81 APOA1 APOA5 APOE
19 very-low-density lipoprotein particle remodeling GO:0034372 9.81 APOA1 APOA5 APOE LPL
20 phospholipid efflux GO:0033700 9.8 APOA1 APOA2 APOA5 APOC3 APOE
21 high-density lipoprotein particle clearance GO:0034384 9.79 APOA1 APOA2 APOE
22 chylomicron remnant clearance GO:0034382 9.79 APOB APOC3 APOE
23 regulation of Cdc42 protein signal transduction GO:0032489 9.78 APOA1 APOC3 APOE
24 regulation of cholesterol transport GO:0032374 9.77 APOA1 APOA5 APOE
25 lipoprotein biosynthetic process GO:0042158 9.77 APOA1 APOB APOE
26 chylomicron assembly GO:0034378 9.77 APOA1 APOA2 APOB APOC3 APOE
27 regulation of intestinal cholesterol absorption GO:0030300 9.76 APOA1 APOA2 APOA5
28 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.75 APOA1 APOA2 APOC3
29 triglyceride catabolic process GO:0019433 9.73 APOA1 APOA5 APOB APOC3 APOE LPL
30 animal organ regeneration GO:0031100 9.71 APOA1 APOA2
31 lipid homeostasis GO:0055088 9.71 APOE USF1
32 phosphatidylcholine biosynthetic process GO:0006656 9.71 APOA1 APOA2
33 artery morphogenesis GO:0048844 9.7 APOB APOE
34 negative regulation of lipid catabolic process GO:0050995 9.7 APOA2 APOC3
35 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.7 APOB LPL
36 very-low-density lipoprotein particle assembly GO:0034379 9.69 APOB APOC3
37 positive regulation of cholesterol storage GO:0010886 9.68 APOB LPL
38 positive regulation of lipid catabolic process GO:0050996 9.68 APOA2 APOA5
39 negative regulation of cytokine secretion involved in immune response GO:0002740 9.68 APOA1 APOA2
40 peptidyl-methionine modification GO:0018206 9.68 APOA1 APOA2
41 very-low-density lipoprotein particle clearance GO:0034447 9.67 APOB APOE
42 negative regulation of lipase activity GO:0060192 9.67 APOA1 APOA2
43 protein oxidation GO:0018158 9.67 APOA1 APOA2
44 lipoprotein catabolic process GO:0042159 9.66 APOB APOE
45 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.66 APOA2 APOA5
46 negative regulation of cholesterol import GO:0060621 9.65 APOA2 APOC3
47 cholesterol efflux GO:0033344 9.63 APOA1 APOA2 APOA5 APOB APOC3 APOE
48 lipoprotein metabolic process GO:0042157 9.43 APOA1 APOA2 APOA5 APOB APOC3 APOE
49 chylomicron remodeling GO:0034371 9.1 APOA1 APOA2 APOB APOC3 APOE LPL
50 lipid metabolic process GO:0006629 10.1 APOA1 APOB APOC3 APOE LPA LPL

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.85 APOA5 APOB APOE LPA LPL
2 lipid binding GO:0008289 9.77 APOA1 APOA2 APOA5 APOC3 APOE
3 lipid transporter activity GO:0005319 9.71 APOA1 APOA2 APOB APOE
4 low-density lipoprotein particle receptor binding GO:0050750 9.65 APOA5 APOB APOE
5 cholesterol binding GO:0015485 9.65 APOA1 APOA2 APOA5 APOC3 APOE
6 phospholipid binding GO:0005543 9.63 APOA1 APOA2 APOA5 APOB APOC3 APOE
7 lipase inhibitor activity GO:0055102 9.61 APOA1 APOA2 APOC3
8 phosphatidylcholine binding GO:0031210 9.56 APOA2 APOA5
9 apolipoprotein binding GO:0034185 9.55 LPA LPL
10 high-density lipoprotein particle binding GO:0008035 9.54 APOA1 APOA2
11 lipase binding GO:0035473 9.52 APOA5 APOB
12 lipoprotein particle binding GO:0071813 9.51 APOA1 APOE
13 high-density lipoprotein particle receptor binding GO:0070653 9.5 APOA1 APOA2 APOC3
14 apolipoprotein receptor binding GO:0034190 9.49 APOA1 APOA2
15 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.26 APOA1 APOA2 APOA5 APOE
16 cholesterol transporter activity GO:0017127 9.02 APOA1 APOA2 APOA5 APOB APOE

Sources for Hyperlipidemia, Familial Combined

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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