HYPLIP1
MCID: HYP614
MIFTS: 50

Hyperlipidemia, Familial Combined (HYPLIP1) malady

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Hyperlipidemia, Familial Combined

Aliases & Descriptions for Hyperlipidemia, Familial Combined:

Name: Hyperlipidemia, Familial Combined 54 42 69
Hyperlipidemia, Familial Combined, Susceptibility to 24 29 13
Hyperlipidemia, Combined, 1 24 29 69
Mixed Hyperlipidemia 12 52 69
Combined Hyperlipidemia, Familial 54 13
Familial Combined Hyperlipidemia 12 14
Hyperlipidemia Combined 1 24 66
Hyperbetalipoproteinemia with Prebetalipoproteinemia 12
Familial Multiple Lipoprotein-Type Hyperlipidemia 12
Familial Combined Hyperlipidemia [ambiguous] 12
Familial Combined Hyperlipidemia Type 1 66
Hyperlipidemia Familial Combined 52
Type Iib Hyperlipoproteinemia 12
Hyperlipoproteinemia Type Iib 69
Mixed Hyperlipidaemia 12
Hyplip1 66
Fchl1 66

Characteristics:

HPO:

32
combined hyperlipidemia, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:13809
ICD10 33 E78.4 E78.2
MeSH 42 D006950
MedGen 40 C1865289
UMLS 69 C0020474

Summaries for Hyperlipidemia, Familial Combined

OMIM : 54 Goldstein et al. (1973) gave the designation 'familial combined hyperlipidemia' to the most common genetic form of... (144250) more...

MalaCards based summary : Hyperlipidemia, Familial Combined, also known as hyperlipidemia, familial combined, susceptibility to, is related to hypertriglyceridemia and hyperchylomicronemia, late-onset, and has symptoms including myocardial infarction, combined hyperlipidemia and xanthelasma. 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 Ezetimibe have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

UniProtKB/Swiss-Prot : 66 Hyperlipidemia 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.

Related Diseases for Hyperlipidemia, Familial Combined

Diseases in the Hyperlipidemia, Familial Combined family:

Hyperlipidemia, Combined, 2

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

(show top 50) (show all 66)
id Related Disease Score Top Affiliating Genes
1 hypertriglyceridemia 28.8 APOA1 APOA2 APOB APOC3 APOE LIPC
2 hyperchylomicronemia, late-onset 11.0
3 alport syndrome and thin basement membrane nephropathy 10.3 APOE LPL
4 zap-70 deficiency 10.2 APOB APOE
5 keratoconus 4 10.2 APOB APOE
6 dentinogenesis imperfecta type 2 10.2 APOB APOE HMGCR
7 transient retinal arterial occlusion 10.2 APOA1 APOB HMGCR
8 spinocerebellar ataxia 20 10.2 APOA1 APOB HMGCR
9 myxofibrosarcoma 10.1 APOE LPL
10 gait apraxia 10.1 APOA1 APOB APOE
11 pars planitis 10.1 APOA1 APOE
12 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.1 LIPC LPL
13 dyserythropoietic anemia, congenital, type ii 10.1 APOA1 APOC3 APOE
14 hyperlipidemia type 3 10.1
15 mannosidosis, beta 10.1 APOA1 APOB APOE LPL
16 alzheimer disease 19, late onset 10.1 APOA2 APOB APOE
17 tyrosinemia, type ii 10.1 APOA1 APOA2
18 familial progressive cardiac conduction defect 10.1 APOA1 APOA2 APOE
19 cetp-related hyperalphalipoproteinemia 10.1 APOB APOE INS
20 fetal warfarin syndrome 10.1 APOA1 APOB INS
21 cataract 20, multiple types 10.1 APOB INS LPL
22 abducens nerve neoplasm 10.0 APOA5 LIPC LPL
23 albinism, oculocutaneous, type v 10.0 APOA1 APOA2 APOB APOE
24 primary pigmented nodular adrenocortical disease 10.0 APOA1 APOB APOE INS
25 neuropathy, hereditary sensory and autonomic, type ia 10.0 APOA1 APOA2 APOB APOE
26 hard palate cancer 10.0 APOA1 APOA2 APOE
27 c1s deficiency 10.0 APOA5 APOE INS LPL
28 cervix small cell carcinoma 10.0 APOA1 APOB APOE INS
29 hyperchlorhidrosis, isolated 9.9 APOA1 APOE LIPC LPL
30 hereditary lymphedema type ii 9.9 APOA1 APOA2
31 exudative vitreoretinopathy 2, x-linked 9.9 APOB COG2
32 joint disorders 9.9 APOA1 APOB APOE INS LPL
33 bird fancier's lung 9.9 APOA1 APOA2 APOB APOE LPL
34 hyperlipoproteinemia type iv 9.9 APOB COG2 INS
35 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome 9.9 APOB APOE HMGCR LIPC LPL
36 acute pancreatitis 9.9
37 pancreatitis 9.9
38 recurrent acute pancreatitis 9.9
39 optic nerve neoplasm 9.8 APOA1 APOB APOE COG2
40 coronary artery disease 9.8
41 artery disease 9.8
42 budd-chiari syndrome 9.8 APOB APOE COG2 HMGCR
43 adrenal adenoma 9.8 APOB COG2 INS
44 peroneal neuropathy 9.8 APOB COG2 INS
45 pericarditis 9.8 APOA1 APOB APOE HMGCR INS LPL
46 chondrocalcinosis with early-onset osteoarthritis 9.8 APOA1 APOB APOC3 APOE INS LPL
47 von willebrand disease, platelet-type 9.8 APOA1 APOA2 APOB APOC3 APOE LPL
48 body dysmorphic disorder 9.8 APOA1 APOB COG2 INS
49 hypopituitarism 9.7
50 posterior uveal melanoma 9.7 APOA1 APOB COG2 INS USF1

Comorbidity relations with Hyperlipidemia, Familial Combined via Phenotypic Disease Network (PDN):


Benign Essential Hypertension Chronic Myocardial Ischemia
Esophagitis Hypertension, Essential
Hypothyroidism Intermediate Coronary Syndrome
Ischemic Heart Disease Mitral Valve Disease
Peripheral Vascular Disease

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



Diseases related to Hyperlipidemia, Familial Combined

Symptoms & Phenotypes for Hyperlipidemia, Familial Combined

Symptoms by clinical synopsis from OMIM:

144250

Clinical features from OMIM:

602491 144250

Human phenotypes related to Hyperlipidemia, Familial Combined:

32
id Description HPO Frequency HPO Source Accession
1 myocardial infarction 32 HP:0001658
2 combined hyperlipidemia 32 HP:0008356
3 xanthelasma 32 HP:0001114

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.56 APOA1 APOA5 APOB APOC3 APOE HMGCR
2 Increased LDL uptake GR00340-A-1 8.8 APOE LPL APOA1

MGI Mouse Phenotypes related to Hyperlipidemia, Familial Combined:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.9 APOA5 APOB APOE COG2 HMGCR INS
2 liver/biliary system MP:0005370 9.5 APOA1 APOB APOE HMGCR INS LIPE
3 muscle MP:0005369 9.1 APOB APOE INS LIPE LPL RXRG

Drugs & Therapeutics for Hyperlipidemia, Familial Combined

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

(show top 50) (show all 84)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fenofibrate Approved Phase 4,Phase 3 49562-28-9 3339
2
Ezetimibe Approved Phase 4,Phase 3 163222-33-1 150311
3
Simvastatin Approved Phase 4,Phase 3 79902-63-9 54454
4
Lovastatin Approved, Investigational Phase 4 75330-75-5 53232
5
Amlodipine Approved Phase 4 88150-42-9 2162
6
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-30-3 6037
8
Niacin Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 59-67-6 938
9
Nicotinamide Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 98-92-0 936
10 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
12 Calcium, Dietary Phase 4,Phase 3
13 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3
14 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Phase 1
15 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1
17 Nicotinic Acids Phase 4,Phase 3,Phase 2,Phase 1
18 Rosuvastatin Calcium Phase 4,Phase 3 147098-20-2
19 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1
20 Vasodilator Agents Phase 4,Phase 3,Phase 1
21 Vitamin B Complex Phase 4,Phase 3,Phase 2,Phase 1
22 Vitamins Phase 4,Phase 3,Phase 2,Phase 1
23 Atorvastatin Calcium Phase 4,Phase 3 134523-03-8
24 Colesevelam Hydrochloride Phase 4
25 Dihydromevinolin Phase 4
26 L 647318 Phase 4
27 Amlodipine, atorvastatin drug combination Phase 4
28 Angiotensin-Converting Enzyme Inhibitors Phase 4
29 Antihypertensive Agents Phase 4
30 calcium channel blockers Phase 4
31 diuretics Phase 4
32 Diuretics, Potassium Sparing Phase 4
33 Hormone Antagonists Phase 4
34 Hormones Phase 4
35 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
36 Mineralocorticoid Receptor Antagonists Phase 4
37 Mineralocorticoids Phase 4
38 Natriuretic Agents Phase 4
39 Ezetimibe, Simvastatin Drug Combination Phase 4,Phase 3
40 Folate Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
41 Vitamin B3 Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
42 Vitamin B9 Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
43 Omega 3 Fatty Acid Nutraceutical Phase 4,Phase 3,Phase 1
44
Pravastatin Approved Phase 3 81093-37-0 54687
45
Bezafibrate Approved Phase 3 41859-67-0 39042
46
Ursodeoxycholic acid Approved, Investigational Phase 3 128-13-2 31401
47
Torcetrapib Phase 3 262352-17-0 159325
48 Cholagogues and Choleretics Phase 3
49 Gastrointestinal Agents Phase 3,Early Phase 1
50 Antibodies Phase 3

Interventional clinical trials:

(show top 50) (show all 65)
id Name Status NCT ID Phase
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
2 Study to Compare Welchol and TriCor to TriCor Alone in Patients With High Cholesterol Completed NCT00754039 Phase 4
3 Efficacy Study of Extended-Release Niacin/Lovastatin Versus Usual Care Completed NCT00345657 Phase 4
4 Effect of Fenofibrate on Endothelial Function and High-density Lipoproteins (HDL)in Patients With Coronary Heart Disease Completed NCT00552747 Phase 4
5 STITCH2 (Simplified Therapeutic Intervention to Control Hypertension and Hypercholesterolemia) Completed NCT00637078 Phase 4
6 Open Label Study To Evaluate The Long-Term Safety Profiles Of Caduet In Japanese Patients Completed NCT01190007 Phase 4
7 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
8 Efficacy Study of Daily Pro-Omega LDL for Low-Density Lipoprotein Cholesterol and Triglyceride Reduction Withdrawn NCT02069106 Phase 4
9 Phase 3 Study to Evaluate the Efficacy and Safety of Omega-3-acids Ethylesters 90 in Type Ⅱb Hyperlipidemia Unknown status NCT02035215 Phase 3
10 Efficacy and Safety of Fenofibrate Added on to Atorvastatin Compared With Atorvastatin Unknown status NCT01956201 Phase 3
11 Lipid Efficacy and Safety in Participants With Mixed Hyperlipidemia (MK-0524B-024) Completed NCT00289900 Phase 3
12 A Study to Evaluate an Investigational Drug in Patients With Mixed Hyperlipidemia (0653A-071)(COMPLETED) Completed NCT00093899 Phase 3
13 Study of Ezetimibe and Fenofibrate in Patients With Mixed Hyperlipidemia (0653-036)(COMPLETED) Completed NCT00092573 Phase 3
14 Two Investigational Drugs in Patients With Mixed Hyperlipidemia (0653-036) Completed NCT00092560 Phase 3
15 Lipid Efficacy Study (0524B-022)(COMPLETED) Completed NCT00269217 Phase 3
16 Lipid Efficacy/Tolerability Study (0524A-020) Completed NCT00269204 Phase 3
17 Effect of MK0524A on Cholesterol Levels (0524A-048) Completed NCT00536510 Phase 3
18 Assess HDL-C Increase And Non-HDL Lowering Effect Of Torcetrapib/Atorvastatin Vs. Fenofibrate Completed NCT00139061 Phase 3
19 Comparison of the Combination of Fenofibrate and 40 mg Simvastatin Versus 40 mg Simvastatin Monotherapy Completed NCT00352183 Phase 3
20 Comparison of the Combination of Fenofibrate and 20 mg Simvastatin Versus 40 mg Simvastatin Monotherapy Completed NCT00349375 Phase 3
21 Tolerability of MK0524A Versus Niacin Extended-Release (0524A-054) Completed NCT00378833 Phase 3
22 Comparison of the Combination of Fenofibrate and Simvastatin Versus Atorvastatin Completed NCT00362934 Phase 3
23 Effect of an Investigational Compound on Tolerability of Extended Release Niacin (0524A-023)(COMPLETED) Completed NCT00376584 Phase 3
24 Comparison of the Combination of Fenofibrate and Simvastatin Versus Pravastatin Completed NCT00362206 Phase 3
25 A Study to Evaluate the Lipid Regulating Effects of 1-Methylnicotinamide (1-MNA) Completed NCT00519714 Phase 2, Phase 3
26 Phase 3 Study of Bezafibrate in Combination With Ursodeoxycholic Acid in Primary Biliary Cirrhosis Completed NCT01654731 Phase 3
27 Study To Evaluate The Safety And Efficacy Of Torcetrapib/Atorvastatin In Subjects With Familial Hypercholerolemia Completed NCT00134485 Phase 3
28 Carotid B-Mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrpib/Atorvastatin to Atorvastatin Alone. Completed NCT00136981 Phase 3
29 A Study to Evaluate Daily Pravastatin, Fenofibrate or Pravafen in the Treatment of Combined Hyperlipidemia Completed NCT00459745 Phase 3
30 Study To Evaluate The Effect Of Torcetrapib/Atorvastatin In Patients With Genetic High Cholesterol Disorder Completed NCT00134511 Phase 3
31 Study of the Efficacy and Safety of Alirocumab (REGN727/SAR236553) in Combination With Other Lipid-modifying Treatment (LMT) (ODYSSEY OPTIONS I) Completed NCT01730040 Phase 3
32 A Clinical Trial to Assess the Long Term Safety and Tolerability of MK-0653C in Japanese Participants With Hypercholesterolemia (MK-0653C-384) Completed NCT02460159 Phase 3
33 Effect of Ezetimibe Plus Simvastatin Versus Simvastatin Alone on Atherosclerosis in the Carotid Artery (ENHANCE)(P02578) Completed NCT00552097 Phase 3
34 Carotid B-mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrapib/Atorvastatin to Atorvastatin. Terminated NCT00134238 Phase 3
35 Study To Evaluate The Effect Of Torcetrapib/Atorvastatin In Subjects With A Genetic Cholesterol Disorder. Terminated NCT00145431 Phase 3
36 Phase 2 Dose-Ranging Efficacy and Safety Trial of SCH 900271 in Participants With Primary Hypercholesterolemia or Mixed Hyperlipidemia (P05675) Completed NCT00941603 Phase 2
37 A Pilot Study to Evaluate the Lipid Effects of TRIA-662 Completed NCT02008084 Phase 2
38 Efficacy of a New Symbiotic Formulation in Children With Familial Hypercholesterolemia Completed NCT02048410 Phase 1, Phase 2
39 Trial of Antroquinonol in Patients With Hypercholesterolemia and Hyperlipidemia Recruiting NCT02719028 Phase 2
40 MK0859 Dose-Ranging Study (0859-003) Terminated NCT00325455 Phase 2
41 A Study of MK0859 in Patients With Primary Hypercholesterolemia or Mixed Hyperlipidemia (MK-0859-011)(COMPLETED) Completed NCT00565292 Phase 1
42 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
43 The Effects of a Mediterranean Diet in Pediatric Hyperlipidemia Completed NCT01308710 Phase 1
44 A Study of Extended-release (ER) Niacin/Laropiprant in Adolescents With Heterozygous Familial Hypercholesterolemia (MK-0524A-158) Terminated NCT01583647 Phase 1
45 Comparison of the Efficacy and Safety of AtorVastatin mOnotherapy vs. Combination Atorvastatin/Fenofibric Acid Unknown status NCT01974297
46 Effectiveness of a Combined Strategy to Improve Therapeutic Compliance and Degree of Control Among Patients With Hypercholesterolaemia Unknown status NCT02314663
47 Simvastatin in Patients With Isolated Arterial Hypertension Unknown status NCT01017835
48 Evaluation of Chylomicrons Metabolism in Sub-Clinical Atherosclerosis in Patients Whit Heterozigous Familial Hypercholesterolemia (FH) Treated With Statin Plus Ezetimibe Unknown status NCT00475826
49 Understanding the Genetic Basis of Familial Combined Hyperlipidemia in Mexican Individuals Completed NCT00365235
50 Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia Completed NCT00005313

Search NIH Clinical Center for Hyperlipidemia, Familial Combined

Cochrane evidence based reviews: hyperlipidemia, familial combined

Genetic Tests for Hyperlipidemia, Familial Combined

Genetic tests related to Hyperlipidemia, Familial Combined:

id Genetic test Affiliating Genes
1 Hyperlipidemia, Familial Combined 29
2 Hyperlipidemia, Combined, 1 29
3 Hyperlipidemia Combined 1 24 USF1

Anatomical Context for Hyperlipidemia, Familial Combined

MalaCards organs/tissues related to Hyperlipidemia, Familial Combined:

39
Heart

Publications for Hyperlipidemia, Familial Combined

Variations for Hyperlipidemia, Familial Combined

ClinVar genetic disease variations for Hyperlipidemia, Familial Combined:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LPL LPL, -39T-C single nucleotide variant Pathogenic
2 LPL NM_000237.2(LPL): c.953A> G (p.Asn318Ser) single nucleotide variant Pathogenic rs268 GRCh37 Chromosome 8, 19813529: 19813529
3 LPL NM_000237.2(LPL): c.106G> A (p.Asp36Asn) single nucleotide variant risk factor rs1801177 GRCh37 Chromosome 8, 19805708: 19805708
4 LPL LPL, -93T-G single nucleotide variant Pathogenic
5 LPL NM_000237.2(LPL): c.904T> C (p.Cys302Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 8, 19955969: 19955969

Expression for Hyperlipidemia, Familial Combined

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

Pathways for Hyperlipidemia, Familial Combined

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

(show all 19)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.8 APOA1 APOA2 APOA5 APOB APOC3 APOE
2
Show member pathways
12.68 APOA1 APOA2 APOA5 HMGCR LPL
3
Show member pathways
12.45 APOA1 APOA2 APOB APOC3 APOE LPL
4
Show member pathways
12.14 APOA1 APOA2 APOA5 APOB APOC3 APOE
5
Show member pathways
12.13 APOA1 APOA2 APOB APOC3 APOE LPL
6
Show member pathways
12.11 APOA1 APOB APOE INS
7
Show member pathways
11.99 HMGCR INS LIPE
8
Show member pathways
11.84 LIPC LIPE LPL
9 11.83 INS LIPE LPL RXRG
10 11.82 APOA1 APOA5 APOE
11
Show member pathways
11.73 APOA1 APOB APOE
12 11.53 HMGCR INS LPL
13 11.49 APOA1 APOA2 APOA5 APOC3 LPL RXRG
14
Show member pathways
11.36 LIPC LIPE LPL
15
Show member pathways
11.11 APOA1 APOA2 APOA5 APOB APOC3 APOE
16 10.97 APOA1 APOA2 APOA5 APOC3
17 10.96 APOA1 APOB
18 10.85 APOA1 APOA2
19 10.57 LIPC LIPE

GO Terms for Hyperlipidemia, Familial Combined

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.88 APOA1 APOA2 APOB APOC3 APOE
2 endoplasmic reticulum lumen GO:0005788 9.87 APOA1 APOA2 APOA5 APOB APOE INS
3 blood microparticle GO:0072562 9.81 APOA1 APOA2 APOA5 APOE
4 low-density lipoprotein particle GO:0034362 9.67 APOA1 APOA5 APOB APOE
5 endocytic vesicle lumen GO:0071682 9.63 APOA1 APOB APOE
6 spherical high-density lipoprotein particle GO:0034366 9.58 APOA1 APOA2 APOC3
7 intermediate-density lipoprotein particle GO:0034363 9.56 APOA1 APOB APOC3 APOE
8 high-density lipoprotein particle GO:0034364 9.55 APOA1 APOA2 APOA5 APOE LIPC
9 endosome lumen GO:0031904 9.52 APOB INS
10 chylomicron GO:0042627 9.5 APOA1 APOA2 APOA5 APOB APOC3 APOE
11 very-low-density lipoprotein particle GO:0034361 9.17 APOA1 APOA2 APOA5 APOB APOC3 APOE
12 extracellular region GO:0005576 10.15 APOA1 APOA2 APOA5 APOB APOC3 APOE
13 extracellular space GO:0005615 10.09 APOA1 APOA2 APOA5 APOB APOC3 APOE

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

(show top 50) (show all 58)
id Name GO ID Score Top Affiliating Genes
1 retinoid metabolic process GO:0001523 9.99 APOA1 APOA2 APOB APOC3 APOE LPL
2 regulation of lipid metabolic process GO:0019216 9.96 APOA1 APOA2 APOA5 HMGCR
3 triglyceride metabolic process GO:0006641 9.95 APOA2 APOA5 APOC3 APOE LPL
4 cholesterol transport GO:0030301 9.91 APOA1 APOA2 APOB LIPC
5 high-density lipoprotein particle remodeling GO:0034375 9.89 APOA1 APOA2 APOC3 APOE LIPC
6 high-density lipoprotein particle assembly GO:0034380 9.88 APOA1 APOA2 APOA5 APOE
7 low-density lipoprotein particle remodeling GO:0034374 9.88 APOA2 APOB APOE LIPC
8 phospholipid efflux GO:0033700 9.88 APOA1 APOA2 APOA5 APOC3 APOE
9 triglyceride homeostasis GO:0070328 9.88 APOA1 APOA5 APOC3 APOE LIPC LPL
10 lipoprotein metabolic process GO:0042157 9.87 APOA1 APOA2 APOA5 APOB APOC3 APOE
11 lipoprotein biosynthetic process GO:0042158 9.86 APOA1 APOA2 APOB APOE
12 cholesterol biosynthetic process GO:0006695 9.85 APOA1 APOA5 HMGCR
13 cholesterol efflux GO:0033344 9.85 APOA1 APOA2 APOA5 APOB APOC3 APOE
14 positive regulation of cholesterol esterification GO:0010873 9.84 APOA1 APOA2 APOA5 APOE
15 negative regulation of lipid catabolic process GO:0050995 9.83 APOA2 APOC3 INS
16 chylomicron remnant clearance GO:0034382 9.83 APOB APOC3 APOE LIPC
17 chylomicron assembly GO:0034378 9.83 APOA1 APOA2 APOB APOC3 APOE
18 high-density lipoprotein particle clearance GO:0034384 9.82 APOA1 APOA2 APOE
19 very-low-density lipoprotein particle remodeling GO:0034372 9.82 APOE LIPC LPL
20 neuron projection regeneration GO:0031102 9.81 APOA1 APOA5 APOE
21 regulation of Cdc42 protein signal transduction GO:0032489 9.8 APOA1 APOC3 APOE
22 regulation of intestinal cholesterol absorption GO:0030300 9.79 APOA1 APOA2 APOA5
23 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.77 APOA1 APOA2 APOC3
24 cholesterol homeostasis GO:0042632 9.76 APOA1 APOA2 APOA5 APOB APOC3 APOE
25 reverse cholesterol transport GO:0043691 9.73 APOA1 APOA2 APOA5 APOC3 APOE LIPC
26 lipid homeostasis GO:0055088 9.72 APOE USF1
27 artery morphogenesis GO:0048844 9.72 APOB APOE
28 positive regulation of nitric-oxide synthase activity GO:0051000 9.72 APOE INS
29 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.72 APOB LPL
30 fatty acid homeostasis GO:0055089 9.71 APOE INS
31 positive regulation of lipid biosynthetic process GO:0046889 9.71 APOE INS
32 positive regulation of fatty acid biosynthetic process GO:0045723 9.71 APOA1 APOA5
33 very-low-density lipoprotein particle assembly GO:0034379 9.71 APOB APOC3
34 regulation of lipoprotein lipase activity GO:0051004 9.71 LIPC LPL
35 positive regulation of lipoprotein lipase activity GO:0051006 9.7 APOA1 APOA5
36 positive regulation of triglyceride catabolic process GO:0010898 9.7 APOA1 APOA5
37 positive regulation of cholesterol storage GO:0010886 9.7 APOB LPL
38 negative regulation of vasodilation GO:0045908 9.7 HMGCR INS
39 positive regulation of lipid catabolic process GO:0050996 9.69 APOA2 APOA5
40 negative regulation of cytokine secretion involved in immune response GO:0002740 9.69 APOA1 APOA2
41 peptidyl-methionine modification GO:0018206 9.69 APOA1 APOA2
42 very-low-density lipoprotein particle clearance GO:0034447 9.68 APOB APOE
43 negative regulation of lipase activity GO:0060192 9.68 APOA1 APOA2
44 lipoprotein catabolic process GO:0042159 9.68 APOB APOE
45 diacylglycerol catabolic process GO:0046340 9.67 APOA2 LIPE
46 protein oxidation GO:0018158 9.67 APOA1 APOA2
47 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.67 APOA2 APOA5
48 negative regulation of cholesterol import GO:0060621 9.66 APOA2 APOC3
49 triglyceride catabolic process GO:0019433 9.56 APOA1 APOA5 APOB APOC3 APOE LIPC
50 chylomicron remodeling GO:0034371 9.1 APOA1 APOA2 APOB APOC3 APOE LPL

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.91 APOA1 APOA2 APOA5 APOB APOC3 APOE
2 heparin binding GO:0008201 9.85 APOA5 APOB APOE LIPC LPL
3 phosphatidylcholine binding GO:0031210 9.69 APOA1 APOA2 APOA5
4 triglyceride lipase activity GO:0004806 9.67 LIPC LIPE LPL
5 lipid transporter activity GO:0005319 9.67 APOA1 APOA2 APOB APOE
6 low-density lipoprotein particle receptor binding GO:0050750 9.65 APOA5 APOB APOE
7 cholesterol binding GO:0015485 9.65 APOA1 APOA2 APOA5 APOC3 APOE
8 phospholipid binding GO:0005543 9.63 APOA1 APOA2 APOA5 APOB APOC3 APOE
9 apolipoprotein binding GO:0034185 9.58 LIPC LPL
10 phospholipase activity GO:0004620 9.58 LIPC LPL
11 lipase inhibitor activity GO:0055102 9.58 APOA1 APOA2 APOC3
12 lipase activity GO:0016298 9.57 LIPC LIPE
13 high-density lipoprotein particle binding GO:0008035 9.56 APOA1 APOA2
14 lipase binding GO:0035473 9.55 APOA5 APOB
15 lipoprotein particle binding GO:0071813 9.54 APOA1 APOE
16 apolipoprotein receptor binding GO:0034190 9.52 APOA1 APOA2
17 high-density lipoprotein particle receptor binding GO:0070653 9.5 APOA1 APOA2 APOC3
18 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.26 APOA1 APOA2 APOA5 APOE
19 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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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