FCHL1
MCID: HYP839
MIFTS: 28

Hyperlipidemia, Familial Combined, 1 (FCHL1)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hyperlipidemia, Familial Combined, 1

MalaCards integrated aliases for Hyperlipidemia, Familial Combined, 1:

Name: Hyperlipidemia, Familial Combined, 1 56 73
Hyperlipidemia, Familial Combined, Susceptibility to 56 13 6
Hyperlipidemia, Combined, 1 56 29 39
Hyplip1 56 73
Fchl1 56 73
Familial Combined Hyperlipidemia Type 1 73
Hyperlipidemia, Combined, 1; Hyplip1 56
Hyperlipidemia, Familial Combined 56
Hyperlipidemia Combined, 1 73

Classifications:



External Ids:

OMIM 56 602491
MeSH 43 D006950
MedGen 41 C1865289

Summaries for Hyperlipidemia, Familial Combined, 1

UniProtKB/Swiss-Prot : 73 Hyperlipidemia, familial combined, 1: A disorder characterized by a variable pattern of elevated levels of serum total cholesterol, triglycerides or both. It is observed in a percentage of individuals with premature coronary heart disease.

MalaCards based summary : Hyperlipidemia, Familial Combined, 1, also known as hyperlipidemia, familial combined, susceptibility to, is related to hyperlipidemia, familial combined, 3 and lipid metabolism disorder. An important gene associated with Hyperlipidemia, Familial Combined, 1 is USF1 (Upstream Transcription Factor 1). The drugs Fenofibrate and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include heart.

More information from OMIM: 602491

Related Diseases for Hyperlipidemia, Familial Combined, 1

Diseases in the Hyperlipidemia, Familial Combined, 3 family:

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

Diseases related to Hyperlipidemia, Familial Combined, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyperlipidemia, familial combined, 3 29.8 USF1 LPL
2 lipid metabolism disorder 29.7 USF1 LPL
3 hyperlipidemia, familial combined, 2 12.4
4 hyperlipoproteinemia, type v 11.4
5 hypercholesterolemia, familial, 1 10.2
6 hypertriglyceridemia, familial 10.2
7 body mass index quantitative trait locus 11 9.4 USF1 LPL
8 diabetes mellitus, noninsulin-dependent 9.2 USF1 LPL

Graphical network of the top 20 diseases related to Hyperlipidemia, Familial Combined, 1:



Diseases related to Hyperlipidemia, Familial Combined, 1

Symptoms & Phenotypes for Hyperlipidemia, Familial Combined, 1

Clinical features from OMIM:

602491

Drugs & Therapeutics for Hyperlipidemia, Familial Combined, 1

Drugs for Hyperlipidemia, Familial Combined, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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

Interventional clinical trials:

(show all 28)
# 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 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
18 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
19 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
20 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
21 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
22 Low Carbohydrate Diet - Effect on Plasma Lipids and Metabolic Markers Completed NCT01476436
23 Genetic Susceptibility to Common Lipid Disorders in Mexico Completed NCT00365235
24 Inflammatory Aspects of Glucose in Hyperlipidemia and Diabetes Completed NCT02130505
25 Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia Completed NCT00005313
26 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
27 Genetic Epidemiology of Hypertriglyceridemia Completed NCT00005368
28 Genomic Dissection of a QTL Affecting the Lipid Profile Withdrawn NCT00064688

Search NIH Clinical Center for Hyperlipidemia, Familial Combined, 1

Genetic Tests for Hyperlipidemia, Familial Combined, 1

Genetic tests related to Hyperlipidemia, Familial Combined, 1:

# Genetic test Affiliating Genes
1 Hyperlipidemia, Combined, 1 29 USF1

Anatomical Context for Hyperlipidemia, Familial Combined, 1

MalaCards organs/tissues related to Hyperlipidemia, Familial Combined, 1:

40
Heart

Publications for Hyperlipidemia, Familial Combined, 1

Articles related to Hyperlipidemia, Familial Combined, 1:

(show all 18)
# Title Authors PMID Year
1
Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1). 56 6
14991056 2004
2
Upstream stimulatory factor 1 associated with familial combined hyperlipidemia, LDL cholesterol, and triglycerides. 56
15959806 2005
3
USF1 and dyslipidemias: converging evidence for a functional intronic variant. 6
16076849 2005
4
Contribution of chromosome 1q21-q23 to familial combined hyperlipidemia in Mexican families. 56
15469419 2004
5
Identification of a common variant in the lipoprotein lipase gene in a large Utah kindred ascertained for coronary heart disease: the -93G/D9N variant predisposes to low HDL-C/high triglycerides. 6
11260209 2001
6
Support for linkage of familial combined hyperlipidemia to chromosome 1q21-q23 in Chinese and German families. 56
10733233 2000
7
Physical activity modulates the effect of a lipoprotein lipase mutation (D9N) on plasma lipids and lipoproteins. 6
10517255 1999
8
Mutations in the lipoprotein lipase gene associated with ischemic heart disease in men. The Copenhagen city heart study. 6
10364086 1999
9
Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23. 56
9537421 1998
10
The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease. The Regress Study Group. 6
9550358 1998
11
Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia. 6
8872057 1996
12
A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia. 6
8541837 1995
13
A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity. 6
7753827 1995
14
The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity. 6
8199176 1994
15
Thioredoxin-interacting protein deficiency disrupts the fasting-feeding metabolic transition. 61
15520447 2005
16
Positional cloning of the combined hyperlipidemia gene Hyplip1. 61
11753387 2002
17
Fine mapping of Hyplip1 and the human homolog, a potential locus for FCHL. 61
11252174 2001
18
Mapping a gene for combined hyperlipidaemia in a mutant mouse strain. 61
9537422 1998

Variations for Hyperlipidemia, Familial Combined, 1

ClinVar genetic disease variations for Hyperlipidemia, Familial Combined, 1:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LPL NM_000237.3(LPL):c.106G>A (p.Asp36Asn)SNV Benign/Likely benign, other 1552 rs1801177 8:19805708-19805708 8:19948197-19948197
2 LPL LPL, -93T-G, PROMOTERSNV risk factor 1555
3 USF1 NM_007122.5(USF1):c.561-100G>ASNV risk factor 12295 rs2073658 1:161010762-161010762 1:161040972-161040972
4 USF1 NM_007122.5(USF1):c.*187C>TSNV risk factor 12294 rs3737787 1:161009523-161009523 1:161039733-161039733
5 LPL LPL, -39T-C, PROMOTERSNV risk factor 1549
6 LPL NM_000237.3(LPL):c.953A>G (p.Asn318Ser)SNV Conflicting interpretations of pathogenicity 1550 rs268 8:19813529-19813529 8:19956018-19956018

Expression for Hyperlipidemia, Familial Combined, 1

Search GEO for disease gene expression data for Hyperlipidemia, Familial Combined, 1.

Pathways for Hyperlipidemia, Familial Combined, 1

GO Terms for Hyperlipidemia, Familial Combined, 1

Molecular functions related to Hyperlipidemia, Familial Combined, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 8.62 USF1 LPL

Sources for Hyperlipidemia, Familial Combined, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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32 ICD10
33 ICD10 via Orphanet
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43 MeSH
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48 NCI
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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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