MCID: FML235
MIFTS: 29

Familial Combined Hyperlipoproteinemia

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Familial Combined Hyperlipoproteinemia

MalaCards integrated aliases for Familial Combined Hyperlipoproteinemia:

Name: Familial Combined Hyperlipoproteinemia 58

Classifications:



External Ids:

Orphanet 58 ORPHA99166

Summaries for Familial Combined Hyperlipoproteinemia

MalaCards based summary : Familial Combined Hyperlipoproteinemia is related to hypercholesterolemia, familial, 1 and familial hypercholesterolemia. An important gene associated with Familial Combined Hyperlipoproteinemia is APOA1 (Apolipoprotein A1), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Lipoprotein metabolism. The drugs Calcium and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and endothelial, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

Related Diseases for Familial Combined Hyperlipoproteinemia

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

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial, 1 29.2 LPL APOB APOA1
2 familial hypercholesterolemia 29.0 LPL APOB APOA1
3 hypolipoproteinemia 28.9 LPL APOB APOA1
4 hyperlipidemia, familial combined, 3 28.9 LPL APOB APOA1
5 glucose intolerance 28.8 LPL APOB APOA1
6 hepatic lipase deficiency 9.9 LPL APOA1
7 huntington disease-like 3 9.9
8 huntington disease-like 2 9.9
9 growth hormone deficiency 9.9
10 xanthomatosis 9.7 LPL APOB
11 endocrine pancreas disease 9.7 LPL APOB
12 abdominal obesity-metabolic syndrome 1 9.7 LPL APOB
13 leukodystrophy, hypomyelinating, 3 9.7 APOB APOA1
14 arcus corneae 9.7 APOB APOA1
15 fetal macrosomia 9.7 APOB APOA1
16 homozygous familial hypercholesterolemia 9.7 APOB APOA1
17 huntington disease-like 1 9.7 APOB APOA1
18 intermediate coronary syndrome 9.7 APOB APOA1
19 hypobetalipoproteinemia, familial, 1 9.7 APOB APOA1
20 chylomicron retention disease 9.7 APOB APOA1
21 sitosterolemia 9.7 APOB APOA1
22 carotid artery disease 9.7 APOB APOA1
23 peripheral artery disease 9.6 APOB APOA1
24 gallbladder disease 9.6 APOB APOA1
25 peripheral vascular disease 9.6 APOB APOA1
26 tobacco addiction 9.6 APOB APOA1
27 hepatoblastoma 9.6 APOB APOA1
28 acquired immunodeficiency syndrome 9.6 APOB APOA1
29 hyperinsulinism 9.6 LPL APOB
30 glucose metabolism disease 9.5 APOB APOA1
31 arteries, anomalies of 9.5 APOB APOA1
32 arteriosclerosis 9.4 APOB APOA1
33 coronary artery anomaly 9.4 APOB APOA1
34 hyperlipoproteinemia, type iv 9.4 LPL APOB APOA1
35 familial lipoprotein lipase deficiency 9.4 LPL APOB APOA1
36 hyperlipoproteinemia, type v 9.4 LPL APOB APOA1
37 hyperlipoproteinemia, type iii 9.4 LPL APOB APOA1
38 lecithin:cholesterol acyltransferase deficiency 9.4 LPL APOB APOA1
39 hyperalphalipoproteinemia 1 9.3 LPL APOB APOA1
40 hypertriglyceridemia, familial 9.3 LPL APOB APOA1
41 coronary stenosis 9.3 LPL APOB APOA1
42 abetalipoproteinemia 9.3 LPL APOB APOA1
43 tangier disease 9.3 LPL APOB APOA1
44 familial hyperlipidemia 9.3 LPL APOB APOA1
45 inherited metabolic disorder 9.3 LPL APOB APOA1
46 coronary heart disease 1 9.3 LPL APOB APOA1
47 heart disease 9.3 LPL APOB APOA1
48 overnutrition 9.3 LPL APOB APOA1
49 lipid metabolism disorder 9.3 LPL APOB APOA1
50 atherosclerosis susceptibility 9.3 LPL APOB APOA1

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



Diseases related to Familial Combined Hyperlipoproteinemia

Symptoms & Phenotypes for Familial Combined Hyperlipoproteinemia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.13 APOA1 APOB LPL
2 Increased LDL uptake GR00340-A-1 8.62 APOA1 LPL

MGI Mouse Phenotypes related to Familial Combined Hyperlipoproteinemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.8 APOA1 APOB LPL

Drugs & Therapeutics for Familial Combined Hyperlipoproteinemia

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
2 Anticholesteremic Agents Phase 4
3 Hypolipidemic Agents Phase 4
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
5 Lipid Regulating Agents Phase 4
6 Antimetabolites Phase 4
7 Rosuvastatin Calcium Phase 4 147098-20-2
8 Calcium, Dietary Phase 4
9
Simvastatin Approved Phase 3 79902-63-9 54454
10
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
11
Atorvastatin Approved Phase 3 134523-00-5 60823
12
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
13
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
14
Torcetrapib Investigational Phase 3 262352-17-0 159325
15 Trace Elements Phase 3
16 Micronutrients Phase 3
17 Vitamins Phase 3
18 Vitamin B3 Phase 3
19 Vitamin B Complex Phase 3
20 Vitamin B9 Phase 3
21 Folate Phase 3
22 Nutrients Phase 3
23 Nicotinic Acids Phase 3
24 Vasodilator Agents Phase 3
25 Fenofibric acid Approved 42017-89-0
26
Fenofibrate Approved 49562-28-9 3339
27
chenodeoxycholic acid Approved Early Phase 1 474-25-9 10133
28
Mannitol Approved, Investigational Early Phase 1 69-65-8 453 6251
29 Gastrointestinal Agents Early Phase 1
30 Cathartics Early Phase 1
31 Laxatives Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 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
5 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
6 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
7 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
8 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
9 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
10 Genetic Epidemiology of Hypertriglyceridemia Completed NCT00005368

Search NIH Clinical Center for Familial Combined Hyperlipoproteinemia

Genetic Tests for Familial Combined Hyperlipoproteinemia

Anatomical Context for Familial Combined Hyperlipoproteinemia

MalaCards organs/tissues related to Familial Combined Hyperlipoproteinemia:

40
Liver, Heart, Endothelial, Kidney, Pancreas

Publications for Familial Combined Hyperlipoproteinemia

Articles related to Familial Combined Hyperlipoproteinemia:

(show all 24)
# Title Authors PMID Year
1
[Congenital disorders of lipoprotein metabolism]. 61
28555288 2017
2
Changes in ultracentrifugally separated plasma lipoprotein subfractions in patients with polygenic hypercholesterolemia, familial combined hyperlipoproteinemia, and familial hypercholesterolemia after treatment with atorvastatin. 61
25911077 2015
3
Genetic influence in liver steatosis prevalence and proatherothrombotic/inflammatory profile in familial combined hyperlipoproteinemia. 61
23465229 2013
4
Influence of metabolic syndrome superposition on familial combined hyperlipoproteinemia cardiovascular complication rate. 61
23671433 2013
5
Lipoprotein apheresis: state of the art and novelties. 61
23357136 2013
6
Familial combined hyperlipoproteinemia: experts panel position on diagnostic criteria for clinical practice. Committee of experts of the Atherosclerosis and Dysmetabolic Disorders Study Group. 61
10765523 1999
7
Endothelial dysfunction occurs in children with two genetic hyperlipidemias: improvement with antioxidant vitamin therapy. 61
9672507 1998
8
Decreasing common carotid artery intimal thickness during hypolipidemic therapy. 61
9313625 1997
9
Lack of association of the apolipoprotein A-I-C-III-A-IV gene XmnI and SstI polymorphisms and of the lipoprotein lipase gene mutations in familial combined hyperlipoproteinemia in French Canadian subjects. 61
9026529 1996
10
[Mixed dyslipoproteinemias: new therapeutic opportunities]. 61
8562265 1995
11
[Etophylline clofibrate in the treatment of familial combined hyperlipoproteinemia]. 61
7762188 1995
12
Kinetics of lipolysis of very low density lipoproteins by lipoprotein lipase. Importance of particle number and noncompetitive inhibition by particles with low triglyceride content. 61
8051155 1994
13
Insulin sensitivity in familial hypercholesterolemia. 61
8412751 1993
14
Lipoproteins in familial dysbetalipoproteinemia. Variation of serum cholesterol level associated with VLDL concentration. 61
8427867 1993
15
Hyperinsulinemia in patients with hypercholesterolemia. 61
1464641 1992
16
Familial combined hyperlipoproteinemia. 61
1737299 1992
17
Familial combined hyperlipoproteinemia. 61
1893322 1991
18
Familial combined hyperlipoproteinemia. 61
2049681 1991
19
[Serum thromboxane B2 and prostaglandin F2 alpha in familial combined hyperlipoproteinemia and familial hypercholesterolemia]. 61
1858388 1991
20
Characterization of plasma lipids and lipoproteins in cholesteryl ester storage disease. 61
3994699 1985
21
Effects of guar gum on plasma lipoproteins and apolipoproteins C-II and C-III in patients affected by familial combined hyperlipoproteinemia. 61
6095636 1984
22
Familial combined hyperlipoproteinemia. Evidence for a role of growth hormone deficiency in effecting its manifestation. 61
6987267 1980
23
[Symposium on hyperlipidemia--epidemiological, clinical and experimental studies. On primary familial combined hyperlipoproteinemia (author's transl)]. 61
4474331 1974
24
Familial combined hyperlipoproteinemia: studies in 91 adults and 95 children from 33 kindreds. 61
4356145 1973

Variations for Familial Combined Hyperlipoproteinemia

Expression for Familial Combined Hyperlipoproteinemia

Search GEO for disease gene expression data for Familial Combined Hyperlipoproteinemia.

Pathways for Familial Combined Hyperlipoproteinemia

Pathways related to Familial Combined Hyperlipoproteinemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.1 LPL APOB APOA1
2
Show member pathways
11.87 LPL APOB APOA1
3
Show member pathways
11.79 APOB APOA1
4
Show member pathways
11.46 LPL APOB APOA1
5
Show member pathways
11.45 APOB APOA1
6 11.28 LPL APOA1
7
Show member pathways
11.01 APOB APOA1
8
Show member pathways
10.87 LPL APOB APOA1
9 10.64 APOB APOA1

GO Terms for Familial Combined Hyperlipoproteinemia

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

# Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.4 APOB APOA1
2 high-density lipoprotein particle GO:0034364 9.37 APOB APOA1
3 endocytic vesicle lumen GO:0071682 9.32 APOB APOA1
4 low-density lipoprotein particle GO:0034362 9.26 APOB APOA1
5 intermediate-density lipoprotein particle GO:0034363 9.16 APOB APOA1
6 very-low-density lipoprotein particle GO:0034361 9.13 LPL APOB APOA1
7 chylomicron GO:0042627 8.8 LPL APOB APOA1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.72 LPL APOB APOA1
2 cellular protein metabolic process GO:0044267 9.61 APOB APOA1
3 receptor-mediated endocytosis GO:0006898 9.6 APOB APOA1
4 lipid transport GO:0006869 9.59 APOB APOA1
5 steroid metabolic process GO:0008202 9.58 APOB APOA1
6 lipid catabolic process GO:0016042 9.58 LPL APOB
7 cholesterol metabolic process GO:0008203 9.57 APOB APOA1
8 phospholipid metabolic process GO:0006644 9.56 LPL APOA1
9 triglyceride homeostasis GO:0070328 9.54 LPL APOA1
10 lipoprotein metabolic process GO:0042157 9.52 APOB APOA1
11 cholesterol transport GO:0030301 9.51 APOB APOA1
12 cholesterol efflux GO:0033344 9.49 APOB APOA1
13 triglyceride catabolic process GO:0019433 9.48 LPL APOB
14 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.46 LPL APOB
15 positive regulation of lipid storage GO:0010884 9.43 LPL APOB
16 chylomicron assembly GO:0034378 9.4 APOB APOA1
17 very-low-density lipoprotein particle remodeling GO:0034372 9.37 LPL APOA1
18 cholesterol homeostasis GO:0042632 9.33 LPL APOB APOA1
19 positive regulation of cholesterol storage GO:0010886 9.32 LPL APOB
20 lipoprotein biosynthetic process GO:0042158 9.26 APOB APOA1
21 retinoid metabolic process GO:0001523 9.13 LPL APOB APOA1
22 chylomicron remodeling GO:0034371 8.8 LPL APOB APOA1

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.32 LPL APOB
2 phospholipid binding GO:0005543 9.26 APOB APOA1
3 lipid transporter activity GO:0005319 9.16 APOB APOA1
4 intermembrane cholesterol transfer activity GO:0120020 8.96 APOB APOA1
5 lipoprotein particle binding GO:0071813 8.62 LPL APOA1

Sources for Familial Combined Hyperlipoproteinemia

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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