FCHL3
MCID: HYP838
MIFTS: 56

Hyperlipidemia, Familial Combined, 3 (FCHL3)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hyperlipidemia, Familial Combined, 3

MalaCards integrated aliases for Hyperlipidemia, Familial Combined, 3:

Name: Hyperlipidemia, Familial Combined, 3 56 73
Familial Combined Hyperlipidemia 56 12 73 36 15
Combined Hyperlipidemia, Familial 56 74 13
Hyperlipidemia, Familial Combined 43 39
Mixed Hyperlipidaemia 12 32
Fchl3 56 73
Hyperbetalipoproteinemia with Prebetalipoproteinemia 12
Familial Multiple Lipoprotein-Type Hyperlipidemia 12
Hyperlipidemia Familial Combined 54
Type Iib Hyperlipoproteinemia 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
hyperlipidemia, familial combined, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:13809
OMIM 56 144250
KEGG 36 H00153
MeSH 43 D006950
NCIt 49 C35637
SNOMED-CT 67 238040008
ICD10 32 E78.2 E78.49
MedGen 41 C0020474
UMLS 71 C0020474

Summaries for Hyperlipidemia, Familial Combined, 3

OMIM : 56 Familial combined hyperlipidemia (FCHL) is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B (APOB; 107730). Patients with FCHL are at increased risk of cardiovascular disease and mortality and have a high frequency of comorbidity with other metabolic conditions such as type 2 diabetes, nonalcoholic fatty liver disease, steatohepatitis, and the metabolic syndrome (summary by Bello-Chavolla et al., 2018). 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. (144250)

MalaCards based summary : Hyperlipidemia, Familial Combined, 3, also known as familial combined hyperlipidemia, is related to hyperlipidemia, familial combined, 1 and hyperlipoproteinemia, type v. An important gene associated with Hyperlipidemia, Familial Combined, 3 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, liver and testes, and related phenotypes are xanthelasma and myocardial infarction

KEGG : 36 Familial combined hyperlipidemia (FCHL) is linked and associated with the gene encoding upstream transcription factor 1 (USF1) and characterized by elevated levels of serum total cholesterol, triglycerides, or both.

UniProtKB/Swiss-Prot : 73 Hyperlipidemia, familial combined, 3: 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. FCHL3 inheritance is autosomal dominant.

Wikipedia : 74 Combined hyperlipidemia (or -aemia) is a commonly occurring form of hypercholesterolemia (elevated... more...

Related Diseases for Hyperlipidemia, Familial Combined, 3

Diseases in the Hyperlipidemia, Familial Combined, 3 family:

Hyperlipidemia, Familial Combined, 1 Hyperlipidemia, Familial Combined, 2

Diseases related to Hyperlipidemia, Familial Combined, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 hyperlipidemia, familial combined, 1 33.4 USF1 LPL
2 hyperlipoproteinemia, type v 32.0 LPL INS APOE APOC3 APOB APOA5
3 hypertriglyceridemia, familial 31.6 LPL LIPC INS CETP APOE APOC3
4 atherosclerosis susceptibility 30.6 PPARA LPL LIPC LDLR LCAT INS
5 hyperinsulinism 30.4 PPARA LPL LIPE INS APOB
6 arteries, anomalies of 30.3 INS COG2 APOE APOB APOA1
7 hyperuricemia 30.3 INS APOE APOB
8 fatty liver disease, nonalcoholic 1 30.3 PPARA INS
9 peripheral artery disease 30.2 APOE APOB APOA1
10 hypoalphalipoproteinemia 30.1 LIPC LCAT APOA2 APOA1
11 glucose intolerance 30.1 LPL INS APOB APOA1
12 non-alcoholic fatty liver disease 30.0 PPARA LPL INS APOC3 APOB APOA1
13 hyperglycemia 29.9 TXNIP LPL INS APOB
14 lipoprotein glomerulopathy 29.9 LDLR LCAT APOE APOB APOA2
15 hyperlipoproteinemia, type iii 29.9 LPL LIPC LDLR CETP APOE APOB
16 homozygous familial hypercholesterolemia 29.8 LIPC LDLR APOE APOB APOA1
17 hypercholesterolemia, familial, 1 29.7 LPL LIPC LDLR LCAT INS COG2
18 familial lipoprotein lipase deficiency 29.6 LPL LIPC APOE APOC3 APOB APOA5
19 cerebrovascular disease 29.6 LPL LDLR INS APOE APOB APOA1
20 peripheral vascular disease 29.5 LCAT INS COG2 CETP APOB APOA2
21 arteriosclerosis 29.2 PPARA LPL LDLR INS COG2 APOE
22 abetalipoproteinemia 29.1 LPL LDLR LCAT COG2 CETP APOE
23 hyperalphalipoproteinemia 1 29.1 LPL LIPC LDLR LCAT CETP APOC3
24 familial hypercholesterolemia 29.1 LPL LIPC LDLR LCAT INS COG2
25 hypothyroidism 29.1 LPL LIPC LDLR INS COG2 CETP
26 hypolipoproteinemia 29.0 LPL LCAT COG2 CETP APOE APOC3
27 coronary heart disease 1 28.9 LPL LIPC LDLR LCAT INS COG2
28 vascular disease 28.9 LPL LIPC LDLR LCAT INS COG2
29 cardiovascular system disease 28.3 PPARA LPL LIPC LDLR LCAT INS
30 hypertension, essential 28.3 PPARA LPL LDLR LCAT INS COG2
31 heart disease 28.3 PPARA LPL LDLR INS COG2 CETP
32 lipid metabolism disorder 28.3 USF1 PPARA LPL LIPE LIPC LDLR
33 familial hyperlipidemia 28.1 PPARA LPL LIPC LDLR LCAT INS
34 body mass index quantitative trait locus 11 27.6 USF1 PPARA LPL LIPE LIPC LDLR
35 diabetes mellitus, noninsulin-dependent 27.5 USF1 TXNIP PPARA LPL LIPE LIPC
36 diabetes mellitus 27.3 TXNIP PPARA LPL LIPE LIPC LDLR
37 hyperlipidemia, familial combined, 2 11.7
38 familial apolipoprotein c-ii deficiency 10.5 LPL APOC3
39 rare hyperlipidemia 10.5
40 rare dyslipidemia 10.5
41 apo a-i deficiency 10.5 LCAT APOA1
42 apolipoprotein c-iii deficiency 10.5 LPL APOC3
43 xanthoma disseminatum 10.4 APOE APOB
44 amyloidosis aa 10.4 LCAT APOA1
45 leukodystrophy, hypomyelinating, 3 10.4 APOA2 APOA1
46 hereditary amyloidosis 10.4 APOA2 APOA1
47 sitosterolemia 10.4 LCAT APOB APOA1
48 fish-eye disease 10.4 LCAT APOA2 APOA1
49 cholesterol ester storage disease 10.3 LCAT APOB
50 corneal degeneration 10.3 LDLR COG2 APOB

Graphical network of the top 20 diseases related to Hyperlipidemia, Familial Combined, 3:



Diseases related to Hyperlipidemia, Familial Combined, 3

Symptoms & Phenotypes for Hyperlipidemia, Familial Combined, 3

Human phenotypes related to Hyperlipidemia, Familial Combined, 3:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 xanthelasma 31 occasional (7.5%) HP:0001114
2 myocardial infarction 31 HP:0001658
3 increased ldl cholesterol concentration 31 HP:0003141
4 hyperlipidemia 31 HP:0003077
5 hypercholesterolemia 31 HP:0003124
6 increased vldl cholesterol concentration 31 HP:0003362
7 elevated apolipoprotein b level 31 HP:0031798
8 elevated apolipoprotein a-ii level 31 HP:0031800

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
hyperlipidemia, mild, variable
elevated serum cholesterol
elevated triglycerides
reduced hdl cholesterol

Clinical features from OMIM:

144250

GenomeRNAi Phenotypes related to Hyperlipidemia, Familial Combined, 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.96 LDLR LIPC
2 Decreased LDL uptake GR00340-A-1 8.62 LDLR LPL

MGI Mouse Phenotypes related to Hyperlipidemia, Familial Combined, 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 APOA1 APOA2 APOA5 APOB APOE C3
2 cardiovascular system MP:0005385 10 APOA1 APOB APOE C3 INS LCAT
3 adipose tissue MP:0005375 9.92 APOE C3 INS LDLR LIPE LPL
4 liver/biliary system MP:0005370 9.7 APOA1 APOB APOE C3 INS LCAT
5 muscle MP:0005369 9.32 APOB APOE C3 INS LDLR LIPE

Drugs & Therapeutics for Hyperlipidemia, Familial Combined, 3

Drugs for Hyperlipidemia, Familial Combined, 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fenofibrate Approved Phase 4 49562-28-9 3339
2
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
3
Lovastatin Approved, Investigational Phase 4 75330-75-5 53232
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
5
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
6 Calcium, Dietary Phase 4
7 Micronutrients Phase 4
8 Vitamins Phase 4
9 Vitamin B Complex Phase 4
10 Vitamin B3 Phase 4
11 Nicotinic Acids Phase 4
12 Folate Phase 4
13 Vasodilator Agents Phase 4
14 Nutrients Phase 4
15 Vitamin B9 Phase 4
16 Trace Elements Phase 4
17 Rosuvastatin Calcium Phase 4 147098-20-2
18 Colesevelam Hydrochloride Phase 4
19 Dihydromevinolin Phase 4
20 L 647318 Phase 4
21
Calcium Nutraceutical Phase 4 7440-70-2 271
22
Pravastatin Approved Phase 3 81093-37-0 54687
23
Bezafibrate Approved, Investigational Phase 3 41859-67-0 39042
24
Ursodeoxycholic acid Approved, Investigational Phase 3 128-13-2 31401
25
Atorvastatin Approved Phase 3 134523-00-5 60823
26
Torcetrapib Investigational Phase 3 262352-17-0 159325
27
Clopidogrel Approved Phase 1 113665-84-2, 120202-66-6 60606
28
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
29 Neurotransmitter Agents Phase 1
30 Fibrinolytic Agents Phase 1
31 Purinergic P2Y Receptor Antagonists Phase 1
32 Cyclooxygenase Inhibitors Phase 1
33 Analgesics Phase 1
34 Antipyretics Phase 1
35 Analgesics, Non-Narcotic Phase 1
36 Platelet Aggregation Inhibitors Phase 1
37 Anti-Inflammatory Agents Phase 1
38 Antirheumatic Agents Phase 1
39 Anti-Inflammatory Agents, Non-Steroidal Phase 1
40 Fenofibric acid Approved 42017-89-0
41
chenodeoxycholic acid Approved Early Phase 1 474-25-9 10133
42
Mannitol Approved, Investigational Early Phase 1 69-65-8 6251 453
43 Laxatives Early Phase 1
44 Cathartics Early Phase 1
45 Gastrointestinal Agents Early Phase 1
46 Phytosterol

Interventional clinical trials:

(show all 36)
# 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 A Double-blind, Double Dummy, Phase IV, Randomized, Multicenter, Parallel Group, Placebo Controlled Trial to Evaluate the Effect of Rosuvastatin on Triglycerides Levels in Mexican Hypertriglyceridemic Patients Completed NCT00473655 Phase 4 rosuvastatin
3 The Effects of the Combination of Welchol and Tricor Compared to TriCor Alone in Patients With Mixed Hyperlipidemia Completed NCT00754039 Phase 4 colesevelam HCl tablets and fenofibrate tablets;fenofibrate tablets and Welchol placebo tablets;fenofibrate tablets and Welchol placebo tablets
4 Extended-Release Niacin/Lovastatin Versus Usual Care for Treatment of Dyslipidemia in a Primary Care Setting (EXTEND Study) Completed NCT00345657 Phase 4 Niacin Extended Release/Lovastatin
5 An 8-Week, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Daily Pro-Omega LDL for Low-Density Lipoprotein Cholesterol and Triglyceride Reduction in Subjects With Mixed Hyperlipoproteinemia Withdrawn NCT02069106 Phase 4
6 Efficacy of Ezetimibe/Simvastatin 10/20 mg and MK0524A (1-2 g/Day) in Patients With Mixed Hyperlipidemia and Two or More Risk Factors to Cardiovascular Disease. Withdrawn NCT00738985 Phase 4 ezetimibe/simvastatin 10/20 mg + placebo;ezetimibe/simvastatin 10/20 mg + MK0524A
7 Efficacy and Safety of Co-administration of Omacor Plus Atorvastatin Compared With Atorvastatin Monotherapy in Patients With Type Ⅱb Dyslipidemia: a Multicenter, Double-blind, Randomized, Active-controlled, Parallel, Phase Ⅲ Study Unknown status NCT02035215 Phase 3 Atorvastatin 20mg;Omega-3-acids ethylesters 90 4g
8 Efficacy and Safety of Fenofibrate Added on to Atorvastatin Compared With Atorvastatin in Mixed Hypercholesterolemic Patient: Multi Center, Randomized, Double-blind, Parallel-group, Therapeutic Confirmatory Study. Unknown status NCT01956201 Phase 3 Atorvastatin 20mg;Fenofibrate 160mg
9 A Study to Evaluate the Efficacy and Safety of Ezetimibe/Simvastatin and Fenofibrate Coadministration in Patients With Mixed Hyperlipidemia Completed NCT00093899 Phase 3 ezetimibe (+) simvastatin
10 Evaluation of the Efficacy and Safety of Fenofibrate and Ezetimibe Coadministration in Patients With Mixed Hyperlipidemia Completed NCT00092573 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
11 Evaluation of the Efficacy and Safety of Fenofibrate and Ezetimibe Coadministration in Patients With Mixed Hyperlipidemia Completed NCT00092560 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
12 A Multicenter, Randomized, Double-Blind, "Factorial" Design Study to Evaluate the Lipid-Altering Efficacy and Safety of Coadministered MK0524B Tablets in Patients With Primary Hypercholesterolemia or Mixed Hyperlipidemia Completed NCT00269217 Phase 3 niacin (+) laropiprant (+) simvastatin;Comparator: niacin (+) laropiprant;Comparator: simvastatin
13 A Worldwide, Multicenter, Double-Blind, Randomized, Parallel, Placebo-Controlled Study to Evaluate the Lipid-Altering Efficacy, Safety and Tolerability of MK0524A in Patients With Primary Hypercholesterolemia or Mixed Hyperlipidemia Completed NCT00269204 Phase 3 niacin (+) laropiprant;ER-niacin
14 A Multicenter, Randomized, Double-Blind, Parallel Group, 12 Week Study to Evaluate the Efficacy and Safety of MK0524B Versus Atorvastatin in Patients With Mixed Hyperlipidemia Completed NCT00289900 Phase 3 MK-0524A;Atorvastatin;Simvastatin
15 Multicenter, Randomized, Double-Blind Study to Evaluate the Efficacy and Safety of Ezetimibe/Simvastatin and Niacin (Extended Release Tablet) Co-Administered in Patients With Type IIa or Type IIb Hyperlipidemia 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)
16 A Multi-Center, Prospective, Longitudinal, Randomized, Double-Blind, Phase III Study to Evaluate the Efficacy and Safety of Daily Administration of Pravastatin 40 mg or Fenofibrate 160 mg or Pravafen (the Combination of Pravastatin and Fenofibrate 40/160 mg) for 12 Weeks Followed by a 52-Week Open-Label Safety Phase of the Pravafen Alone in the Treatment of Combined Hyperlipidemia. Completed NCT00459745 Phase 3 Pravafen;Pravastatin;Fenofibrate
17 Multicenter, Randomized, Double-blind Placebo Controlled Trial of Bezafibrate for the Treatment of Primary Biliary Cirrhosis in Patients With Incomplete Response to Ursodesoxycholic Acid Therapy. Completed NCT01654731 Phase 3 Bezafibrate;placebo
18 Phase 3 Multi-Center, Double-Blind, Randomized, Parallel Group, Carotid B-mode Ultrasound Evaluation of the Anti-Atherosclerotic Efficacy, Safety, and Tolerability of Fixed Combination CP-529,414/Atorvastatin, Administered Orally, Once Daily (QD) for 24 Months, Compared With Atorvastatin Alone, in Subjects With Mixed Hyperlipidemia Terminated NCT00134238 Phase 3 torcetrapib/atorvastatin;atorvastatin
19 A Phase 2 Randomized, Double-Blind, Dose-Response Efficacy and Safety Study of SCH 900271 Compared to Placebo in Subjects With Primary Hypercholesterolemia (Familial and Nonfamilial) or Mixed Hyperlipidemia Completed NCT00941603 Phase 2 SCH 900271 15mg;SCH 900271;SCH 900271;SCH 900271;SCH 900271;Placebo
20 A Randomized, Double-blind, Placebo-controlled, Forced Dose-escalation, Multi-center Pilot Study to Evaluate the Lipid Regulating Effects of TRIA-662 (1-methylnicotinamide Chloride) Completed NCT02008084 Phase 2 TRIA-662;Placebo
21 A Study to Evaluate the Effects of Laropiprant on the Antiplatelet Effects of Clopidogrel and Aspirin in Combination and to Evaluate Single Dose Pharmacokinetics of MK0524A in Subjects With Primary Hypercholesterolemia or Mixed Dyslipidemia Completed NCT01012219 Phase 1 niacin (+) laropiprant;Comparator: aspirin;Comparator: clopidogrel;Comparator: laropiprant;Comparator: placebo
22 Endothelial Assessment of Risk From Lipids in Youth: Mediterranean Diet Completed NCT01308710 Phase 1
23 Comparison of the Efficacy and AtorVastatin 20mg mOnotherapy Versus Combination Atorvastatin/Fenofibric Acid 10/135mg in the Mixed hyperlipiDemia Who Were Not at Lipid gOals With Atorvastatin 10mg Monotherapy. Unknown status NCT01974297 Atorvastatin 10mg, fenofibric acid 135mg;atorvastatin 20mg
24 Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia Completed NCT00005313
25 Inflammatory Aspects of Glucose in Hyperlipidemia and Diabetes Completed NCT02130505
26 Genetic Susceptibility to Common Lipid Disorders in Mexico Completed NCT00365235
27 Effects of Activation of the Farnesoid X Receptor (FXR) on Hepatic Lipid and Glucose Metabolism in Patients With the Metabolic Syndrome and Familial Forms of Hypertriglyceridemia Completed NCT00465751 Early Phase 1 chenodeoxycholic acid;placebo capsules
28 Low Carbohydrate Diet - Effect on Plasma Lipids and Metabolic Markers Completed NCT01476436
29 Genetic Epidemiology of Hypertriglyceridemia Completed NCT00005368
30 Quantitative Genetic Analysis of Lipid Research Clinic Family Data Completed NCT00005188
31 Evaluation of Non-invasive Measurements of Atherosclerosis in Cardiovascular Risk Stratification: a Study in a Population-based Cohort and Familial Combined Hyperlipidemia Completed NCT01555294
32 Effect of Weight Loss on Lipids Concentration and Cholesterol Metabolism in Overweight and Obese Subjects With Primary Hypercholesterolemia. Completed NCT01995149
33 Identification of Genes Predisposing to Atherosclerosis Completed NCT00059098
34 A Multicenter, Open-label, 30-week Observational Clinical Study to Examine the Progress of Patients After Leaving the Cardiology Clinic or Unit Due to Acute Cardiovascular Event. Completed NCT01770210 Patients on atorvastatin treatment
35 Effect of Low-Fat Compared to Low-Carbohydrate Diet on Fasting Lipids and Metabolic Profile in Subjects With Multifactorial Chylomicronemia: A Randomized Crossover Study Recruiting NCT03898609
36 Genomic Dissection of a QTL Affecting the Lipid Profile Withdrawn NCT00064688

Search NIH Clinical Center for Hyperlipidemia, Familial Combined, 3

Cochrane evidence based reviews: hyperlipidemia, familial combined

Genetic Tests for Hyperlipidemia, Familial Combined, 3

Anatomical Context for Hyperlipidemia, Familial Combined, 3

MalaCards organs/tissues related to Hyperlipidemia, Familial Combined, 3:

40
Heart, Liver, Testes, Endothelial, Adipocyte, Lung, Monocytes

Publications for Hyperlipidemia, Familial Combined, 3

Articles related to Hyperlipidemia, Familial Combined, 3:

(show top 50) (show all 574)
# Title Authors PMID Year
1
Thioredoxin interacting protein in Dutch families with familial combined hyperlipidemia. 54 61 56
15368498 2004
2
A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity. 61 54 56
7753827 1995
3
FAMILIAL COMBINED HYPERLIPIDEMIA: CURRENT KNOWLEDGE, PERSPECTIVES, AND CONTROVERSIES. 56 61
30307446 2018
4
APOE p.Leu167del-Related Lipid Disorders – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6 61
24921113 2014
5
Biochemical and genetic association of plasma apolipoprotein A-II levels with familial combined hyperlipidemia. 61 56
12738753 2003
6
Combined analysis of genome scans of dutch and finnish families reveals a susceptibility locus for high-density lipoprotein cholesterol on chromosome 16q. 61 56
12638083 2003
7
Positional cloning of the combined hyperlipidemia gene Hyplip1. 56 61
11753387 2002
8
Identification of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemia. 56 61
10958645 2000
9
A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11. 56 61
10417282 1999
10
A common genetic mechanism determines plasma apolipoprotein B levels and dense LDL subfraction distribution in familial combined hyperlipidemia. 56 61
9683593 1998
11
Families with familial combined hyperlipidemia and families enriched for coronary artery disease share genetic determinants for the atherogenic lipoprotein phenotype. 61 56
9683614 1998
12
Evidence against linkage of familial combined hyperlipidemia to the apolipoprotein AI-CIII-AIV gene complex. 61 56
9484986 1998
13
A mouse model with features of familial combined hyperlipidemia. 61 56
8994037 1997
14
Inherited susceptibility determines the distribution of dense low-density lipoprotein subfraction profiles in familial combined hyperlipidemia. 61 56
8644746 1996
15
Genetic evidence from 7 families that the apolipoprotein B gene is not involved in familial combined hyperlipidemia. 56 61
1975179 1990
16
Detection and characterization of the heterozygote state for lipoprotein lipase deficiency. 61 56
2719595 1989
17
DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias. 61 56
2883893 1987
18
Low density lipoprotein metabolism in familial combined hyperlipidemia. Mechanism of the multiple lipoprotein phenotypic expression. 61 56
6508636 1984
19
Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia. 61 56
6403642 1983
20
Myocardial infarction in the familial forms of hypertriglyceridemia. 61 56
1250165 1976
21
Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. 56 61
4718953 1973
22
Combined hyperlipidemia: familial but not (usually) monogenic. 56
26709473 2016
23
Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 6
22962670 2012
24
Metabolic and genetic aspects of familial combined hyperlipidaemia with emphasis on low-density lipoprotein heterogeneity. 56
9373757 1997
25
Multilocus genetic determinants of LDL particle size in coronary artery disease families. 56
8644718 1996
26
Association between genetic variation at the APO AI-CIII-AIV gene cluster and familial combined hyperlipidaemia. 56
7889654 1994
27
Linkage of atherogenic lipoprotein phenotype to the low density lipoprotein receptor locus on the short arm of chromosome 19. 56
1731344 1992
28
Familial combined hyperlipidaemia linked to the apolipoprotein AI-CII-AIV gene cluster on chromosome 11q23-q24. 56
1670899 1991
29
Hypertriglyceridemia as a result of human apo CIII gene expression in transgenic mice. 56
2167514 1990
30
Strong association of a single nucleotide substitution in the 3'-untranslated region of the apolipoprotein-CIII gene with common hypertriglyceridemia in Arabs. 56
2914370 1989
31
Severe hypertriglyceridemia: role of familial and acquired disorders. 56
6827992 1983
32
Familial combined hyperlipoproteinemia: studies in 91 adults and 95 children from 33 kindreds. 56
4356145 1973
33
Inheritance of combined hyperlipoproteinemia: evidence for a new lipoprotein phenotype. 56
4346680 1973
34
Identification of two common variants contributing to serum apolipoprotein B levels in Mexicans. 61 54
19965785 2010
35
Upstream transcription factor 1 influences plasma lipid and metabolic traits in mice. 61 54
19995791 2010
36
Serum adiponectin is decreased in patients with familial combined hyperlipidemia and normolipaemic relatives and is influenced by lipid-lowering treatment. 61 54
19632099 2009
37
Functional variant disrupts insulin induction of USF1: mechanism for USF1-associated dyslipidemias. 61 54
20031629 2009
38
A systems genetics approach implicates USF1, FADS3, and other causal candidate genes for familial combined hyperlipidemia. 54 61
19750004 2009
39
Retinoid X receptor heterodimer variants and cardiovascular risk factors. 54 61
19672026 2009
40
Adiponectin multimer distribution in patients with familial combined hyperlipidemia. 61 54
18762168 2008
41
Relationship between familial combined hyperlipidemia and insulin resistance. 61 54
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. 54 61
19007590 2008
43
Genetic variants in the USF1 gene are associated with low-density lipoprotein cholesterol levels and incident type 2 diabetes mellitus in women: results from the MONICA/KORA Augsburg case-cohort study, 1984-2002. 61 54
18593823 2008
44
Insulin resistance and oxidative stress in familial combined hyperlipidemia. 54 61
18164710 2008
45
Paraoxonase (PON1) is associated with familial combined hyperlipidemia. 54 61
18096166 2008
46
Upstream transcription factor 1 (USF1) in risk of type 2 diabetes: association study in 2000 Dutch Caucasians. 61 54
18445538 2008
47
Allelic variants of upstream transcription factor 1 associate with carotid artery intima-media thickness: the Cardiovascular Risk in Young Finns study. 61 54
18577828 2008
48
Association analysis of allelic variants of USF1 in coronary atherosclerosis. 61 54
18276913 2008
49
Tumor necrosis factor-alpha is a marker of familial combined hyperlipidemia, independently of metabolic syndrome. 54 61
18328361 2008
50
Whole-genome maps of USF1 and USF2 binding and histone H3 acetylation reveal new aspects of promoter structure and candidate genes for common human disorders. 61 54
18230803 2008

Variations for Hyperlipidemia, Familial Combined, 3

ClinVar genetic disease variations for Hyperlipidemia, Familial Combined, 3:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LPL NM_000237.3(LPL):c.644G>A (p.Gly215Glu)SNV Pathogenic 1522 rs118204057 8:19811733-19811733 8:19954222-19954222
2 LPL NM_000237.3(LPL):c.904T>C (p.Cys302Arg)SNV Likely pathogenic 424622 rs1064797075 8:19813480-19813480 8:19955969-19955969
3 LPL NM_000237.3(LPL):c.953A>G (p.Asn318Ser)SNV Conflicting interpretations of pathogenicity 1550 rs268 8:19813529-19813529 8:19956018-19956018

UniProtKB/Swiss-Prot genetic disease variations for Hyperlipidemia, Familial Combined, 3:

73
# Symbol AA change Variation ID SNP ID
1 LPL p.Asn318Ser VAR_004239 rs268
2 LPL p.Asp36Asn VAR_011948 rs1801177

Expression for Hyperlipidemia, Familial Combined, 3

Search GEO for disease gene expression data for Hyperlipidemia, Familial Combined, 3.

Pathways for Hyperlipidemia, Familial Combined, 3

Pathways related to Hyperlipidemia, Familial Combined, 3 according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 PPARA LPL LIPE LIPC LDLR LCAT
2
Show member pathways
12.71 PPARA LPL APOA5 APOA2 APOA1
3
Show member pathways
12.52 LPL LDLR APOE APOC3 APOB APOA2
4 12.35 TXNIP LIPE INS APOE
5
Show member pathways
12.2 LPL LDLR APOE APOC3 APOB APOA2
6
Show member pathways
12.19 LDLR INS APOE APOB APOA1
7
Show member pathways
11.94 LPL LIPE LIPC LDLR LCAT CETP
8 11.92 RXRG PPARA LPL LIPE INS
9
Show member pathways
11.77 LPL LIPC LDLR LCAT CETP APOE
10
Show member pathways
11.74 APOE APOB APOA1
11 11.59 RXRG PPARA LPL APOC3 APOA5 APOA2
12 11.55 LPL LDLR INS
13
Show member pathways
11.52 LPL LIPE LIPC
14
Show member pathways
11.38 LPL LIPE LIPC
15 11.07 PPARA APOC3 APOA5 APOA2 APOA1
16 10.85 PPARA LDLR
17 10.85 APOA2 APOA1
18 10.57 LIPE LIPC

GO Terms for Hyperlipidemia, Familial Combined, 3

Cellular components related to Hyperlipidemia, Familial Combined, 3 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.23 LPL LIPC LCAT INS CETP C3
2 extracellular space GO:0005615 10.21 LPL LIPC LCAT INS CETP C3
3 endoplasmic reticulum lumen GO:0005788 9.97 LIPC INS C3 APOE APOB APOA5
4 early endosome GO:0005769 9.95 LDLR APOE APOC3 APOB APOA5 APOA2
5 blood microparticle GO:0072562 9.84 C3 APOE APOA2 APOA1
6 secretory granule lumen GO:0034774 9.73 INS C3 APOA1
7 chylomicron GO:0042627 9.7 LPL APOE APOC3 APOB APOA5 APOA2
8 clathrin-coated endocytic vesicle membrane GO:0030669 9.69 LDLR APOE APOB
9 endocytic vesicle lumen GO:0071682 9.67 APOE APOB APOA1
10 spherical high-density lipoprotein particle GO:0034366 9.65 APOC3 APOA2 APOA1
11 low-density lipoprotein particle GO:0034362 9.65 LDLR APOE APOB APOA5 APOA1
12 intermediate-density lipoprotein particle GO:0034363 9.62 APOE APOC3 APOB APOA1
13 endosome lumen GO:0031904 9.55 INS APOB
14 discoidal high-density lipoprotein particle GO:0034365 9.52 APOE APOA1
15 very-low-density lipoprotein particle GO:0034361 9.5 LPL APOE APOC3 APOB APOA5 APOA2
16 high-density lipoprotein particle GO:0034364 9.23 LIPC LCAT CETP APOE APOB APOA5

Biological processes related to Hyperlipidemia, Familial Combined, 3 according to GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.26 PPARA LPL LIPE LIPC LDLR LCAT
2 cellular protein metabolic process GO:0044267 10.17 INS C3 APOE APOB APOA5 APOA2
3 post-translational protein modification GO:0043687 10.14 C3 APOE APOB APOA5 APOA2 APOA1
4 lipid transport GO:0006869 10.14 LDLR CETP APOE APOC3 APOB APOA5
5 steroid metabolic process GO:0008202 10.13 LIPE LDLR LCAT CETP APOE APOB
6 retinoid metabolic process GO:0001523 10.07 LPL APOE APOC3 APOB APOA2 APOA1
7 lipid catabolic process GO:0016042 10.06 LPL LIPE LIPC APOC3 APOB
8 response to drug GO:0042493 10.05 TXNIP LPL APOA2 APOA1
9 triglyceride metabolic process GO:0006641 10.03 LPL CETP APOE APOC3 APOA5 APOA2
10 intermembrane lipid transfer GO:0120009 10.02 CETP APOE APOB APOA2 APOA1
11 receptor-mediated endocytosis GO:0006898 10.01 LDLR APOE APOB APOA1
12 triglyceride homeostasis GO:0070328 10 LPL LIPC CETP APOE APOC3 APOA5
13 triglyceride catabolic process GO:0019433 9.99 LPL LIPE LIPC APOC3 APOB APOA5
14 regulation of lipid metabolic process GO:0019216 9.97 PPARA APOA5 APOA2 APOA1
15 low-density lipoprotein particle remodeling GO:0034374 9.97 LIPC CETP APOE APOB APOA2
16 phospholipid efflux GO:0033700 9.97 APOE APOC3 APOA5 APOA2 APOA1
17 cholesterol efflux GO:0033344 9.97 APOE APOC3 APOB APOA5 APOA2 APOA1
18 chylomicron assembly GO:0034378 9.95 APOE APOC3 APOB APOA2 APOA1
19 reverse cholesterol transport GO:0043691 9.95 LIPC LCAT CETP APOE APOC3 APOA2
20 positive regulation of lipid biosynthetic process GO:0046889 9.94 INS APOE APOA5 APOA1
21 phosphatidylcholine metabolic process GO:0046470 9.93 LCAT CETP APOA5 APOA1
22 high-density lipoprotein particle assembly GO:0034380 9.93 APOE APOA5 APOA2 APOA1
23 chylomicron remnant clearance GO:0034382 9.92 LIPC LDLR APOE APOC3 APOB
24 response to glucose GO:0009749 9.91 TXNIP LPL APOA2
25 phospholipid metabolic process GO:0006644 9.91 LPL LCAT APOA1
26 high-density lipoprotein particle clearance GO:0034384 9.91 LDLR APOE APOA2 APOA1
27 positive regulation of cholesterol esterification GO:0010873 9.91 APOE APOA5 APOA2 APOA1
28 chylomicron remodeling GO:0034371 9.91 LPL APOE APOC3 APOB APOA2 APOA1
29 high-density lipoprotein particle remodeling GO:0034375 9.91 LIPC LCAT CETP APOE APOC3 APOA2
30 lipoprotein biosynthetic process GO:0042158 9.9 LCAT APOE APOB APOA1
31 positive regulation of phagocytosis GO:0050766 9.88 C3 APOA2 APOA1
32 lipid homeostasis GO:0055088 9.88 USF1 CETP APOE
33 phospholipid transport GO:0015914 9.88 LDLR CETP APOA1
34 very-low-density lipoprotein particle remodeling GO:0034372 9.87 LPL LIPC LCAT CETP APOE APOA5
35 phosphatidylcholine biosynthetic process GO:0006656 9.86 LCAT APOA2 APOA1
36 artery morphogenesis GO:0048844 9.85 LDLR APOE APOB
37 negative regulation of lipid catabolic process GO:0050995 9.85 INS APOC3 APOA2
38 positive regulation of lipid storage GO:0010884 9.84 LPL C3 APOB
39 regulation of Cdc42 protein signal transduction GO:0032489 9.83 APOE APOC3 APOA1
40 lipoprotein catabolic process GO:0042159 9.83 LDLR APOE APOB
41 regulation of intestinal cholesterol absorption GO:0030300 9.82 APOA5 APOA2 APOA1
42 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.82 APOC3 APOA2 APOA1
43 cholesterol transport GO:0030301 9.8 LIPC LDLR LCAT CETP APOB APOA2
44 lipoprotein metabolic process GO:0042157 9.76 PPARA LDLR APOE APOC3 APOB APOA5
45 positive regulation of cholesterol efflux GO:0010875 9.75 APOE APOA1
46 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.75 LPL APOB
47 fatty acid homeostasis GO:0055089 9.75 INS APOE
48 regulation of cholesterol metabolic process GO:0090181 9.74 LDLR APOE
49 positive regulation of fatty acid biosynthetic process GO:0045723 9.74 APOA5 APOA1
50 amyloid-beta clearance GO:0097242 9.74 LDLR C3

Molecular functions related to Hyperlipidemia, Familial Combined, 3 according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.98 LPL C3 APOE APOA2 APOA1
2 lipid binding GO:0008289 9.91 PPARA CETP APOE APOC3 APOA5 APOA2
3 heparin binding GO:0008201 9.89 LPL LIPC APOE APOB APOA5
4 amyloid-beta binding GO:0001540 9.77 LDLR APOE APOA1
5 lipid transporter activity GO:0005319 9.73 APOE APOB APOA2 APOA1
6 triglyceride lipase activity GO:0004806 9.71 LPL LIPE LIPC
7 phosphatidylcholine binding GO:0031210 9.71 CETP APOA5 APOA2 APOA1
8 low-density lipoprotein particle receptor binding GO:0050750 9.7 APOE APOB APOA5
9 lipase activity GO:0016298 9.69 LPL LIPE LIPC
10 lipoprotein particle binding GO:0071813 9.65 LPL APOE APOA1
11 cholesterol binding GO:0015485 9.65 CETP APOC3 APOA5 APOA2 APOA1
12 high-density lipoprotein particle binding GO:0008035 9.63 APOA2 APOA1
13 apolipoprotein binding GO:0034185 9.63 LPL LIPC
14 lipase inhibitor activity GO:0055102 9.63 APOC3 APOA2 APOA1
15 phospholipid binding GO:0005543 9.63 APOE APOC3 APOB APOA5 APOA2 APOA1
16 low-density lipoprotein particle binding GO:0030169 9.62 LIPC LDLR
17 heparan sulfate proteoglycan binding GO:0043395 9.62 LPL APOE
18 phospholipase A1 activity GO:0008970 9.61 LPL LIPC
19 phosphatidylserine 1-acylhydrolase activity GO:0052739 9.61 LPL LIPC
20 1-acyl-2-lysophosphatidylserine acylhydrolase activity GO:0052740 9.59 LPL LIPC
21 lipase binding GO:0035473 9.58 APOB APOA5
22 lipoprotein lipase activity GO:0004465 9.57 LPL LIPC
23 apolipoprotein receptor binding GO:0034190 9.56 APOA2 APOA1
24 triglyceride binding GO:0017129 9.55 LPL CETP
25 high-density lipoprotein particle receptor binding GO:0070653 9.5 APOC3 APOA2 APOA1
26 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.26 APOE APOA5 APOA2 APOA1
27 intermembrane cholesterol transfer activity GO:0120020 9.02 CETP APOE APOB APOA2 APOA1

Sources for Hyperlipidemia, Familial Combined, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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