CAD
MCID: HYP724
MIFTS: 66

Hyperlipoproteinemia, Type Iii (CAD)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hyperlipoproteinemia, Type Iii

MalaCards integrated aliases for Hyperlipoproteinemia, Type Iii:

Name: Hyperlipoproteinemia, Type Iii 57 36
Hyperlipoproteinemia Type Iii 12 73 20 72 54 44 15 70
Broad-Betalipoproteinemia 57 20 72 70
Familial Type 3 Hyperlipoproteinemia 12 29 6
Floating-Betalipoproteinemia 57 72 70
Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis 57 72
Familial Hypercholesterolemia with Hyperlipemia 57 72
Familial Hyperbeta- and Prebetalipoproteinemia 57 72
Coronary Artery Disease, Severe 57 72
Familial Dysbetalipoproteinemia 20 72
Hyperlipoproteinemia Type 3 20 58
Coronary Artery Disease 72 70
Hyperlipidemia Type 3 20 58
Broad Beta Disease 20 72
Dysbetalipoproteinemia Due to Defect in Apolipoprotein E-D 57
Dysbetalipoproteinemia Due to Defect in Apolipoprotein E 72
Coronary Artery Disease, Severe, Susceptibility to 57
Familial Hypercholesterolaemia with Hyperlipaemia 12
Apolipoprotein E, Deficiency or Defect of 57
Deficiency or Defect of Apolipoprotein E 72
Familial Hyperlipoproteinemia Type Iii 73
Carbohydrate Induced Hyperlipemia 12
Familial Dyslipidemia Type 3 58
Remnant Hyperlipoproteinemia 58
Coronary Arteriosclerosis 70
Remnant Removal Disease 20
Coronary Heart Disease 70
Remnant Hyperlipidemia 12
Dysbetalipoproteinemia 58
Hyperlipoproteinemia 3 72
Broad-Beta Disease 58
Hlp Type 3 58
Hlpp3 72
Cad 72

Characteristics:

Orphanet epidemiological data:

58
dysbetalipoproteinemia
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-5/10000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:3145
OMIM® 57 617347
KEGG 36 H00156
NCIt 50 C34710
SNOMED-CT 67 42569002
MESH via Orphanet 45 D006952
ICD10 via Orphanet 33 E78.2
UMLS via Orphanet 71 C0020479
Orphanet 58 ORPHA412
MedGen 41 C0020479
UMLS 70 C0010054 C0010068 C0020479 more

Summaries for Hyperlipoproteinemia, Type Iii

GARD : 20 Hyperlipidemia type 3 is an inherited condition that disrupts the normal breakdown of fats (lipids) in the body, causing a large amount of certain fatty materials to build up in the body. Some individuals never have symptoms of this condition. Symptoms usually do not appear unless a second genetic or environmental factor adds to increased lipid levels. Symptoms may include: yellowish lipid-filled bumps on the skin (xanthomas), inflammation of the pancreas (pancreatitis), and a buildup of fat in the blood vessels (atherosclerosis). Hyperlipidemia type 3 may lead to the development of cardiovascular disease. This condition is caused by mutations in the APOE gene. The inheritance of this condition is considered to be complicated, as having mutations in the APOE gene often does not lead to the development of symptoms without the influence of other factors. Most people with symptoms of hyperlipidemia type 3 have two mutations in the APOE gene, inherited in an autosomal recessive manner. Treatment often includes management of diet, exercise, and use of lipid-lowering medications.

MalaCards based summary : Hyperlipoproteinemia, Type Iii, also known as hyperlipoproteinemia type iii, is related to arteries, anomalies of and peripheral artery disease, and has symptoms including tremor, angina pectoris and chest pain. An important gene associated with Hyperlipoproteinemia, Type Iii is APOE (Apolipoprotein E), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Pravastatin and Hydromorphone have been mentioned in the context of this disorder. Affiliated tissues include endothelial, heart and bone, and related phenotypes are hypertriglyceridemia and increased ldl cholesterol concentration

Disease Ontology : 12 A familial hyperlipidemia that has material basis in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13.

OMIM® : 57 Hyperlipoproteinemia type III, also called dysbetalipoproteinemia, is characterized by hyperlipidemia due to accumulation of remnants of the triglyceride (TG)-rich lipoproteins (TGRL), very low density lipoproteins (VLDL), and chylomicrons (CM), in response to dysfunctional genetic variants of apolipoprotein E or absence of apoE (summary by Blum, 2016). (617347) (Updated 05-Apr-2021)

KEGG : 36 Hyperlipoproteinemia type III is an autosomal recessively disorder characterized by the accumulation of intermediate-density lipoprotein due to mutation of apolipoprotein E.

UniProtKB/Swiss-Prot : 72 Coronary artery disease: A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction.
Hyperlipoproteinemia 3: A disorder characterized by the accumulation of intermediate-density lipoprotein particles (IDL or broad-beta-lipoprotein) rich in cholesterol. Clinical features include xanthomas, yellowish lipid deposits in the palmar crease, or less specific on tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it is usually expressed only after the menopause.

Wikipedia : 73 Familial dysbetalipoproteinemia or type III hyperlipoproteinemia is a condition characterized by... more...

Related Diseases for Hyperlipoproteinemia, Type Iii

Diseases in the Hyperlipoproteinemia, Type I family:

Hyperlipoproteinemia, Type Iv Hyperlipoproteinemia, Type V
Hyperlipoproteinemia, Type Id Hyperlipoproteinemia, Type Iii

Diseases related to Hyperlipoproteinemia, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 909)
# Related Disease Score Top Affiliating Genes
1 arteries, anomalies of 32.8 APOE APOB APOA1
2 peripheral artery disease 31.9 LPA APOE APOB APOA1
3 hypoalphalipoproteinemia 31.9 LIPC APOA1
4 coronary stenosis 31.6 LPL CETP APOE APOB APOA1
5 lipoprotein quantitative trait locus 31.5 LPL LPA LIPC LDLR HMGCR CETP
6 arteriosclerosis 31.3 LPA HMGCR APOE APOB APOA1
7 atherosclerosis susceptibility 31.0 LPL LPA LIPC HMGCR CETP APOE
8 acute myocardial infarction 31.0 LPA HMGCR APOB APOA1
9 hyperalphalipoproteinemia 1 30.9 LPL LIPC LDLR CETP APOB APOA1
10 cerebrovascular disease 30.9 LPL LPA APOE APOB APOA1
11 peripheral vascular disease 30.8 LPA HMGCR CETP APOB APOA1
12 carotid artery disease 30.7 LPA APOE APOB APOA1
13 generalized atherosclerosis 30.7 APOE APOB
14 stroke, ischemic 30.7 LPA LDLR HMGCR APOE APOB
15 silent myocardial infarction 30.7 APOB APOA1
16 myocardial infarction 30.6 LPL LPA LIPC HMGCR CETP APOE
17 kidney disease 30.5 LPA HMGCR CETP APOE APOB APOA1
18 coronary heart disease 1 30.5 LPL LPA LIPC LDLR HMGCR CETP
19 aortic atherosclerosis 30.5 LPL LPA CETP APOE APOB
20 heart disease 30.4 LPL LPA LDLR HMGCR CETP APOE
21 amyloidosis 30.4 LPA APOE APOA1
22 chronic kidney disease 30.4 LPL LPA LIPC CETP APOE APOB
23 non-alcoholic fatty liver disease 30.3 LPL HMGCR APOE APOB APOA1
24 cerebral atherosclerosis 30.3 APOE APOB APOA1
25 macular degeneration, age-related, 1 30.3 LIPC CETP APOE APOB
26 vascular disease 30.2 LPL LPA LIPC HMGCR CETP APOE
27 hypothyroidism 30.2 LPA LIPC CETP APOB APOA1
28 platelet glycoprotein iv deficiency 30.2 LPL APOE APOB
29 familial hypercholesterolemia 30.2 LPL LPA LIPC LDLR HMGCR CETP
30 abdominal obesity-metabolic syndrome 1 30.1 LPL APOB APOA1
31 apolipoprotein c-ii deficiency 30.1 LPL APOC2
32 hypercholesterolemia, familial, 2 30.0 LDLR APOE APOB
33 lipid metabolism disorder 29.9 LPL LPA LIPC LDLR HMGCR CETP
34 hypertension, essential 29.9 LPL LPA HMGCR CETP APOE APOB
35 defective apolipoprotein b-100 29.9 LDLR HMGCR APOE APOB
36 arcus corneae 29.8 LPA LDLR APOB APOA1
37 tangier disease 29.7 LPL LPA CETP APOE APOB APOA1
38 gallbladder disease 29.7 CETP APOE APOB APOA1
39 body mass index quantitative trait locus 11 29.7 LPL LPA LIPC CETP APOE APOB
40 hepatic lipase deficiency 29.7 LPL LIPC APOE APOA1
41 homozygous familial hypercholesterolemia 29.6 LIPC LDLR HMGCR APOE APOB APOA1
42 type 2 diabetes mellitus 29.6 LPL LPA LIPC HMGCR CETP APOE
43 diabetes mellitus 29.6 LPL LPA LIPC HMGCR CETP APOE
44 pancreatitis 29.5 LPL APOC2 APOA5
45 xanthomatosis 29.3 LPL LPA LDLR HMGCR APOE APOB
46 hypobetalipoproteinemia, familial, 1 29.2 APOE APOC2 APOB APOA5 APOA1
47 sitosterolemia 29.2 HMGCR APOC2 APOB APOA5 APOA1
48 hypolipoproteinemia 29.0 LPL LPA CETP APOE APOC2 APOB
49 cardiovascular system disease 29.0 LPL LPA LIPC LDLR HMGCR CETP
50 inherited metabolic disorder 28.9 LPL HMGCR CETP APOE APOB APOA1

Graphical network of the top 20 diseases related to Hyperlipoproteinemia, Type Iii:



Diseases related to Hyperlipoproteinemia, Type Iii

Symptoms & Phenotypes for Hyperlipoproteinemia, Type Iii

Human phenotypes related to Hyperlipoproteinemia, Type Iii:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002155
2 increased ldl cholesterol concentration 58 31 hallmark (90%) Very frequent (99-80%) HP:0003141
3 hypercholesterolemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003124
4 decreased hdl cholesterol concentration 58 31 hallmark (90%) Very frequent (99-80%) HP:0003233
5 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
6 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
7 hepatic steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0001397
8 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
9 xanthelasma 58 31 frequent (33%) Frequent (79-30%) HP:0001114
10 corneal arcus 58 31 frequent (33%) Frequent (79-30%) HP:0001084
11 tendon xanthomatosis 58 31 frequent (33%) Frequent (79-30%) HP:0010874
12 type iv atherosclerotic lesion 31 frequent (33%) HP:0002635
13 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
14 angina pectoris 58 31 occasional (7.5%) Occasional (29-5%) HP:0001681
15 gout 58 31 occasional (7.5%) Occasional (29-5%) HP:0001997
16 peripheral arterial stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004950
17 premature coronary artery atherosclerosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005181
18 renal steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000799
19 acute pancreatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001735
20 accelerated atherosclerosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004943
21 aortic atherosclerotic lesion 31 occasional (7.5%) HP:0012397
22 abnormality of the skin 58 Very frequent (99-80%)
23 atheromatosis 58 Frequent (79-30%)
24 aortic atherosclerosis 58 Occasional (29-5%)
25 premature peripheral vascular disease 58 Occasional (29-5%)

Clinical features from OMIM®:

617347 (Updated 05-Apr-2021)

UMLS symptoms related to Hyperlipoproteinemia, Type Iii:


tremor; angina pectoris; chest pain; edema; equilibration disorder; substernal pain

GenomeRNAi Phenotypes related to Hyperlipoproteinemia, Type Iii 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 Hyperlipoproteinemia, Type Iii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 APOA1 APOA5 APOB APOC2 APOE HMGCR
2 liver/biliary system MP:0005370 9.17 APOA1 APOB APOE HMGCR LDLR LPL

Drugs & Therapeutics for Hyperlipoproteinemia, Type Iii

Drugs for Hyperlipoproteinemia, Type Iii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 649)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pravastatin Approved Phase 4 81093-37-0 54687
2
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
3
Amiodarone Approved, Investigational Phase 4 1951-25-3 2157
4
Esmolol Approved Phase 4 103598-03-4, 81147-92-4 59768
5
Glycolic acid Approved, Investigational Phase 4 79-14-1 757
6
Nicardipine Approved, Investigational Phase 4 55985-32-5 4474
7
Fenoldopam Approved Phase 4 67227-56-9, 67227-57-0 3341
8
Thalidomide Approved, Investigational, Withdrawn Phase 4 50-35-1 5426
9
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 130881 158781
10
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
11
Nitric Oxide Approved Phase 4 10102-43-9 145068
12
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
13
Polyestradiol phosphate Approved Phase 4 28014-46-2
14
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
15
Insulin aspart Approved Phase 4 116094-23-6 16132418
16
Warfarin Approved Phase 4 81-81-2 54678486 6691
17
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
18
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
19
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
20
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
21
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
22
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
23
Ranitidine Approved, Withdrawn Phase 4 66357-35-5, 66357-59-3, 82530-72-1 3001055
24
Esomeprazole Approved, Investigational Phase 4 161973-10-0, 161796-78-7, 119141-88-7 4594 9568614
25
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
26
Cangrelor Approved Phase 4 163706-06-7 9854012
27
Eplerenone Approved Phase 4 107724-20-9 443872 150310
28
Iodine Approved, Investigational Phase 4 7553-56-2 807
29
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
30
Etomidate Approved Phase 4 33125-97-2 36339 667484
31
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
32
Probucol Approved, Investigational Phase 4 23288-49-5 4912
33
Glimepiride Approved Phase 4 93479-97-1 3476
34
Famotidine Approved Phase 4 76824-35-6 3325
35
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 6366718 5282452
36
Ramipril Approved Phase 4 87333-19-5 5362129
37
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
38
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
39
Insulin glargine Approved Phase 4 160337-95-1
40
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
41
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
42
Linagliptin Approved Phase 4 668270-12-0 10096344
43
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
44
Glyburide Approved Phase 4 10238-21-8 3488
45
Glipizide Approved, Investigational Phase 4 29094-61-9 3478
46
Abciximab Approved Phase 4 143653-53-6
47
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
48
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
49
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
50
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035

Interventional clinical trials:

(show top 50) (show all 4438)
# Name Status NCT ID Phase Drugs
1 Ischemia In Hemodialysed Patients And Outcome: Ivabradine Versus Carvedilol. A Randomized, Double Blind Study Unknown status NCT01425164 Phase 4 Ivabradine;Carvedilol
2 Multi-centre Clinical Trial on Hormone Replacement Treatment in China Unknown status NCT01698164 Phase 4 estradiol plus MPA;Ximingting Tablet;estradiol plus progesterone
3 Apposition Assessed Using Optical Coherence Tomography of Chromium Stents Eluting Everolimus From Cobalt Versus Platinum Alloy Platforms. Unknown status NCT01776567 Phase 4
4 A Prospective Multicenter Trial Evaluating Helios Biodegradable Polymer Sirolimus-eluting Stent Safety and Effectiveness in Treatment of Coronary Artery Disease Unknown status NCT01880879 Phase 4
5 Study of Curative Effect Evaluation of DanLou Tablet on Coronary Artery Disease Not Amenable to Revascularization on the Basis of Western Medicine Therapy Unknown status NCT03072082 Phase 4 Danlou Tablet;DanLou Tablet placebo;Aspirin Enteric-coated Tablets;Clopidogrel Hydrogen Sulfate 75 MG Oral Tablet;Atorvastatin calcium;Isosorbide Mononitrate Tab 20 MG;Metoprolol Tartrate Tab 25 MG;Trimetazidine Dihydrochloride Tablets
6 Phase 4 Study of Patients Receiving BNP or NTG (IV) During Angioplasty, Re-examined 24 Hours Later Using the Flow-mediated Brachial Artery Dilation Study, and Blood Assays for Pro BNP and ET1 Unknown status NCT00262574 Phase 4 Nesiritide,
7 Evaluation of the Strategy of "One-stop" Endovascular Treatment for Concomitant Coronary Artery Disease and Aortic Atherosclerotic Disease Unknown status NCT03563768 Phase 4
8 Prospective Randomized Trial On Radiation Dose Estimates Of CT Angiography In Patients Applying Iterative Image Reconstruction Techniques - The PROTECTION V Study - Unknown status NCT01453712 Phase 4
9 Study of Curative Effect Evaluation of Shexiang Baoxin Pill on Coronary Artery Disease Not Amenable to Revascularization on the Basis of Western Medicine Therapy Unknown status NCT03072121 Phase 4 Shexiang Baoxin pill;SBP placebo;Aspirin Enteric-coated Tablets;Clopidogrel Hydrogen Sulfate 75 MG Oral Tablet;Atorvastatin Calcium;Isosorbide Mononitrate Tab 20 MG;Metoprolol Tartrate Tab 25 MG;Trimetazidine Dihydrochloride Tablets
10 Low-dose of Ticagrelor and Standard-dose Clopidogrel on Platelet Effects in Chinese Patients With Stable Coronary Artery Disease: a Randomized, Single-blind, Crossover Clinical Study Unknown status NCT03679091 Phase 4 low-dose ticagrelor;Clopidogrel
11 Multicenter Trial on Clinical Utility of Acarbose in Patients With Ischemic Heart Disease Accompanied by Abnormal Glucose Regulation Unknown status NCT00858676 Phase 4 acarbose
12 Prospective Randomised Study Comparing Efficacy of Treatment Coronary In-stent Restenosis Using Drug Eluting Paclitaxel-coated Balloon and Drug Eluting Stent With Everolimus. Unknown status NCT01735825 Phase 4
13 Cilostazol Enhances the Number and Functions of Circulating Endothelial Progenitor Cells and Endothelial Function Mediated Through Modification of Vasculogenesis and Angiogenesis Factors in Patients With Stable Coronary Artery Disease Unknown status NCT02174939 Phase 4 Cilostazol;Dummy Placebo
14 A Randomized, Double-blind, Placebo-controlled Trial of Dan-shen Extract in Patients With Stable Angina Pectoris Unknown status NCT02870764 Phase 4 Dan-shen extract;Placebo
15 Low Dose Statins, Ezetimibe and Nutraceuticals in Coronary Artery Disease Patients Intolerant to High Intensity Statin Treatment (TArget ChOlesterol) Unknown status NCT03277079 Phase 4 statin + ezetimibe;statin + ezetimibe + Nutraceuticals
16 Validation of the Clinical Applicability of Various Platelet Function Assessments in High-Risk Atherothrombotic Patients Undergoing Percutaneous Coronary Angioplasty: Phase 4 Study Unknown status NCT00513149 Phase 4 Clopidogrel
17 A Multicenter, Randomized, Double-blind, Placebo-controlled, Crossover Trial to Evaluate the Effects of Evolocumab Added to Standard Lipid-lowering Therapy on Fasting and Post Fat Load Lipids in Patients With Familial Dysbetalipoproteinemia Unknown status NCT03811223 Phase 4 Evolocumab Auto-Injector [Repatha];Placebos
18 Hydroxychloroquine Assessment of Management Study in Coronary Artery Disease After Angiography. Unknown status NCT02874287 Phase 4 Hydroxychloroquine Sulfate Tablets;Placebo Tablets
19 Clinical Study of Combination Therapy for Angina of Coronary Heart Disease With Aspirin and Salvianolate Injection Based on Population Pharmacokinetics and Therapeutic Effect:A Randomized, Controlled Trial Unknown status NCT02694848 Phase 4 Salvianolate injection;Aspirin
20 Randomized Placebo-controlled Crossover Trial of Endothelial Function Improvement in Subjects With History of Premature Coronary Artery Disease Unknown status NCT00917527 Phase 4 Atorvastatin
21 A Randomised, Placebo Controlled, Double Blind, Cross-over, Single Center Clinical Study to Investigate the Effect of Heart Rate Reduction With Ivabradine on Vascular Elastic Properties and Endothelial Function in Patients With Stable Coronary Heart Disease Unknown status NCT01768585 Phase 4 Ivabradine;Placebo
22 Comparison of the Efficacy and Safety of New Platform Everolimus-eluting Coronary Stent System (Promus Element) With Zotarolimus-eluting Coronary Stent System (Endeavor Resolute) and Triple Anti-platelet Therapy With Double-dose Clopidogrel Anti-platelet Therapy in Patients With Coronary Heart Disease Unknown status NCT01267734 Phase 4 Triple anti-platelet therapy (TAT);Double-dose clopidogrel anti-platelet therapy (DDAT)
23 The Effect of Tongguan Capsule for MicroRNA Profiles Between Qi-Stagnation and Qi-Deficiency in Coronary Heart Disease Patients With Blood Stasis Syndrome Undergoing Percutaneous Coronary Intervention Unknown status NCT02850627 Phase 4 Tongguan capsule;placebo capsule
24 A Multicenter, Open Labeled, Cross-Over Designed Prospective Study Evaluating the Effects of Lipid Lowering Treatment on Steroid Synthesis Unknown status NCT00433823 Phase 4 Atorvastatin, Ezetimibe
25 Prospective, Randomized Study of the Platelet Inhibitory Efficacy of Ticagrelor Versus Prasugrel in Clopidogrel Low Responders After Percutaneous Coronary Intervention Unknown status NCT01456364 Phase 4 Ticagrelor;Prasugrel
26 The Impact of Compound Danshen Dropping Pill for Coronary Heart Disease With Hypertension Patient Heart and Artery Structure and Function Unknown status NCT01825759 Phase 4 danshen dripping pill
27 Prospective, Randomized Trial of Limus-Eluting Stents With Biodegradable or Permanent Polymer Coatings Unknown status NCT01068106 Phase 4
28 Cardiac Metabolic Modulator Treatment for Improvement of Left Ventricular Diastolic Function in Patients With Coronary Heart Disease: a Prospective, Randomized Controlled Study Unknown status NCT03887013 Phase 4 Trimetazidine
29 Different Dosage of Domestic and Imported Clopidogrel on the Platelet Inhibition Ratio in Patients Undergoing PCI Unknown status NCT03006835 Phase 4 Clopidogrel
30 Pilop Trial of OCT-determined Coverage of Permanent or Polymer-free Sirolimus Eluting Stent at Long Term Unknown status NCT01260558 Phase 4
31 RANDOMIZED TRIAL OF ZOTAROLIMUS- AND EVEROLIMUS-ELUTING STENTS REGARDING STENT COVERAGE ASSESSED BY OCT Unknown status NCT01230723 Phase 4
32 Studies of Application of Combined General Anesthesia and Bilateral Thoracic Paravertebral Block by Ropivacaine in Patients Undergoing Off-pump Coronary Artery Bridge Graft - a Random Double Blind Controlled Study Unknown status NCT02727712 Phase 4 Anesthesia drugs during the surgery
33 Effect of Early Administration of Intracoronary Nicorandil Via Thrombus Aspiration Catheter Device During Primary Percutaneous Coronary Intervention for the Patients of Acute ST Segment Elevation Myocardial Infarction Unknown status NCT02435797 Phase 4 Nicorandil;normal saline
34 Randomized Comparison of Biolimus-Eluting and Everolimus-Eluting Stents With Optical Coherence Tomography Guided Stent Implantation in ST Elevation Myocardial Infarction.A 9-Month Angiographic and Optical Coherence Tomography Follow-up. Unknown status NCT00888758 Phase 4
35 Impact of Stent Platform on Shear Stress Distribution and Subsequent Vessel Healing After Drug-eluting Stent Implantation (SHEAR DES) Unknown status NCT01942044 Phase 4
36 Comparison of Diabetes Mellitus and Non-diabetes Mellitus Patients for Surface Coverage After Two Types of Drug-eluting Stent Implantation (A Pilot Study) Unknown status NCT01021930 Phase 4
37 The Efficacy of Lescol XL(Fluvastatin Extended Release 80 mg) on Atherosclerosis Progression in Patients With Newly Diagnosed Coronary Heart Disease Unknown status NCT01681199 Phase 4 Fluvastatin extended release tablet
38 Rosuvastatin Effect on Reducing Coronary Atherosclerosis Plaques Volume Evaluated by Multi-slice Spiral CT in Patients With Stable Coronary Heart Disease and Hyperlipidemia Unknown status NCT01382277 Phase 4 Rosuvastatin
39 Comparison of the Everolimus Eluting (XIENCE-V®, XIENCE-Prime® or PROMUS® Stent) With the Biolimus A9 Eluting NOBORI® Stent in All-comers: a Randomized Open Label Study Unknown status NCT01233453 Phase 4
40 A French, Multicentric, Randomized, Simple Blind, Superiority Study Comparing the Efficiency and the Safety at 24 Months of the Stent Titan2 Versus Bare Metal Stent in Cobalt-Chrome in All Comers Patients Among Which 40 % Present an ACS. Unknown status NCT01918150 Phase 4
41 A Multi Center Registry to Evaluate Multiple Stenting Using by Everolimus-eluting Stents for Treatment of Long Coronary Artery Disease Unknown status NCT01147237 Phase 4
42 Assessment of Surface Coverage of Polymer-based Sirolimus-eluting Stent( Cypher ) or Polymer-free Paclitaxel-eluting Stent (YinYi )in Diabetes Mellitus and Non- Diabetes Mellitus Patients by Optical Coherence Tomography Unknown status NCT01023919 Phase 4
43 Effect of Alirocumab(Proprotein Convertase Subtilisin/Kexin type9 Inhibitor) and Rosuvastatin or Rosuvastatin Alone on Lipid Core Plaques in Coronary Artery Disease Evaluated by Near-infrared Spectroscopy Intravascular Ultrasound Unknown status NCT03529253 Phase 4 Alirocumab 75 MG/ML [Praluent]+ Rosuvastatin 10mg/daily;Rosuvastatin calcium10mg
44 Randomized Controlled Clinical Study to Compare the Efficacy and Safety of Different Dose of Tirofiban in Interventional Treatment of Complex Coronary Artery Disease Unknown status NCT02294994 Phase 4 tirofiban
45 The Early Diagnosis and Prevention of Ischemic Stroke and Cognition Decline Associated With Coronary Artery Disease Combined With Cerebral Artery Stenosis or Arrhythmia by 24-Hour Simultaneous Recorder of Electrocardiograph and Electroencephalography Unknown status NCT00247533 Phase 4
46 Effect of Sodium Glucose Co-transporter 2 (SGLT2) Inhibitor on Systemic and Renal Endothelial Function in Patients With Type 2 Diabetes Mellitus Without History of Coronary Artery Disease (SOCCER Trial) Unknown status NCT02501616 Phase 4 Metformin;Dapagliflozin
47 Bedside Testing of the CYP2C19 Gene to Asses Effectiveness of Clopidogrel in Coronary Artery Disease Patients Treated With Percutaneous Coronary Intervention : Individualized Antiplatelet Drugs Treatment to Improve Prognosis Unknown status NCT01823185 Phase 4 clopidogrel;Ticagrelor or prasugrel
48 A Randomized, Double-Blind, Placebo-Controlled Trial for DaZhu Rhodiola Rosea Capsule in the Treatment of Coronary Artery Disease With Angina Pectoris Unknown status NCT03633890 Phase 4 DaZhu Rhodiola Rosea Capsule;DaZhu Rhodiola Rosea Simulation Capsule
49 The Beneficial Role of Percutaneous Coronary Intervention Over Optimal Medical Therapy in Elderly Patients (Age > 75 Years Old) With Coronary Artery Disease: a Randomized Controlled Study Unknown status NCT01508663 Phase 4 ARB, CCB, ACE-inhibitor, statin, Nitrate, Antiplate etc.
50 Healthy Heart Study: Can Insulin Glargine Improve Myocardial Function in Patients With Type 2 Diabetes and Coronary Artery Disease? A Prospective, Randomized, Controlled Clinical Study With Blinded Analysis of Ultrasound Data Unknown status NCT01035528 Phase 4 insulin glargine;metformin

Search NIH Clinical Center for Hyperlipoproteinemia, Type Iii

Inferred drug relations via UMLS 70 / NDF-RT 51 :


atorvastatin
Atorvastatin calcium
cerivastatin
Cerivastatin sodium
Cholestyramine Resin
Clofibrate
colesevelam
Colesevelam hydrochloride
Colestipol
Colestipol Hydrochloride
Dextrothyroxine
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Cochrane evidence based reviews: hyperlipoproteinemia type iii

Genetic Tests for Hyperlipoproteinemia, Type Iii

Genetic tests related to Hyperlipoproteinemia, Type Iii:

# Genetic test Affiliating Genes
1 Familial Type 3 Hyperlipoproteinemia 29 APOE

Anatomical Context for Hyperlipoproteinemia, Type Iii

MalaCards organs/tissues related to Hyperlipoproteinemia, Type Iii:

40
Endothelial, Heart, Bone, Bone Marrow, Liver, Thyroid, Spinal Cord

Publications for Hyperlipoproteinemia, Type Iii

Articles related to Hyperlipoproteinemia, Type Iii:

(show top 50) (show all 144)
# Title Authors PMID Year
1
Studies of familial type III hyperlipoproteinemia using as a genetic marker the apoE phenotype E2/2. 61 57 6
7175379 1982
2
Genetic heterogeneity in familial dysbetalipoproteinemia. The E2(lys146----gln) variant results in a dominant mode of inheritance. 6 57
2313204 1990
3
The molecular basis of a familial apoE deficiency. An acceptor splice site mutation in the third intron of the deficient apoE gene. 6 57
3029073 1987
4
Familial apolipoprotein E deficiency. 6 57
3771793 1986
5
Identification of a new structural variant of human apolipoprotein E, E2(Lys146 leads to Gln), in a type III hyperlipoproteinemic subject with the E3/2 phenotype. 6 57
6313758 1983
6
Type III hyperlipoproteinemia associated with apolipoprotein E deficiency. 57 6
6795720 1981
7
Polymorphisms in the apolipoprotein A5 (APOA5) gene and type III hyperlipidemia. 6 54
16143024 2005
8
Type III hyperlipoproteinemia and spontaneous atherosclerosis in mice resulting from gene replacement of mouse Apoe with human Apoe*2. 6 54
9649566 1998
9
Dominant expression of type III hyperlipoproteinemia. Pathophysiological insights derived from the structural and kinetic characteristics of ApoE-1 (Lys146-->Glu). 54 6
7635945 1995
10
Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene. 54 6
1361196 1992
11
Severe type III hyperlipoproteinemia associated with unusual apolipoprotein E1 phenotype and epsilon 1/'null' genotype. 54 6
1360898 1992
12
The functional characteristics of a human apolipoprotein E variant (cysteine at residue 142) may explain its association with dominant expression of type III hyperlipoproteinemia. 6 54
1730728 1992
13
Apolipoprotein E3-Leiden. A new variant of human apolipoprotein E associated with familial type III hyperlipoproteinemia. 61 6
3721502 1986
14
Type III Hyperlipoproteinemia: Still Worth Considering? 57
27481046 2016
15
Apolipoprotein E genotypes are associated with lipid-lowering responses to statin treatment in diabetes: a Go-DARTS study. 57
18334912 2008
16
Polymorphisms associated with cholesterol and risk of cardiovascular events. 57
18354102 2008
17
Subsets of SNPs define rare genotype classes that predict ischemic heart disease. 57
17006673 2007
18
Influence of apolipoprotein E epsilon4 genotype on brain tissue integrity in relapsing-remitting multiple sclerosis. 6
15096402 2004
19
Unusual xanthomas in a young patient with heterozygous familial hypercholesterolemia and type III hyperlipoproteinemia. 57
8911609 1996
20
Characterization of a novel variant of apolipoprotein E, E2 Fukuoka (Arg-224 --> Gln) in a hyperlipidemic patient with xanthomatosis. 6
8664327 1996
21
Genetic associations with human longevity at the APOE and ACE loci. 57
8136829 1994
22
Characterization of five new mutants in the carboxyl-terminal domain of human apolipoprotein E: no cosegregation with severe hyperlipidemia. 6
8488843 1993
23
Apolipoprotein epsilon 4 and coronary artery disease. 57
1360057 1992
24
Apolipoprotein epsilon 4 and coronary artery disease. 57
1360061 1992
25
Apolipoprotein epsilon 4 and coronary artery disease. 57
1360062 1992
26
Apolipoprotein epsilon 4 homozygosity in young men with coronary heart disease. 57
1357300 1992
27
Apolipoprotein E1 Lys-146----Glu with type III hyperlipoproteinemia. 6
1356443 1992
28
Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia. 6
1674745 1991
29
Identification and characterization of a new variant of apolipoprotein E (apo E-Kochi). 6
2101409 1990
30
Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121-127. 6
2556398 1989
31
Increased frequencies of apolipoprotein epsilon 2 and epsilon 4 alleles in patients with ischemic heart disease. 57
2791332 1989
32
Type III hyperlipoproteinemia associated with apolipoprotein E phenotype E3/3. Structure and genetics of an apolipoprotein E3 variant. 6
2539388 1989
33
Genotyping and sequence analysis of apolipoprotein E isoforms. 6
3243553 1988
34
Simultaneous effects of the apolipoprotein E polymorphism on apolipoprotein E, apolipoprotein B, and cholesterol metabolism. 57
3337104 1988
35
Familial dysbetalipoproteinemic subjects with the E3/E2 phenotype exhibit an E2 isoform with only one cysteine residue. 57
3690877 1987
36
Apolipoprotein E2-Christchurch (136 Arg----Ser). New variant of human apolipoprotein E in a patient with type III hyperlipoproteinemia. 6
3038959 1987
37
ApoE deficiency: markedly decreased levels of cellular ApoE mRNA. 57
3004475 1986
38
Isolation and characterisation of a variant allele of the gene for human apolipoprotein E. 6
2992507 1985
39
Cholesteryl ester accumulation in mouse peritoneal macrophages induced by beta-migrating very low density lipoproteins from patients with atypical dysbetalipoproteinemia. 57
6309903 1983
40
Lipoprotein receptors in the liver. Control signals for plasma cholesterol traffic. 57
6309907 1983
41
Atypical familial dysbetalipoproteinemia associated with apolipoprotein phenotype E3/3. 6
6860421 1983
42
Identical structural and receptor binding defects in apolipoprotein E2 in hypo-, normo-, and hypercholesterolemic dysbetalipoproteinemia. 6
6300187 1983
43
Structural basis for receptor binding heterogeneity of apolipoprotein E from type III hyperlipoproteinemic subjects. 57
6289314 1982
44
Familial dysbetalipoproteinemia. Abnormal binding of mutant apoprotein E to low density lipoprotein receptors of human fibroblasts and membranes from liver and adrenal of rats, rabbits, and cows. 57
6270194 1981
45
Regulation of plasma cholesterol by lipoprotein receptors. 57
6261329 1981
46
Type III hyperlipoproteinemia: defective metabolism of an abnormal apolipoprotein E. 57
7455696 1981
47
Genetic transmission of isoapolipoprotein E phenotypes in a large kindred: relationship to dysbetalipoproteinemia and hyperlipidemia. 57
7464557 1981
48
Polymorphism of apolipoprotein E. III. Effect of a single polymorphic gene locus on plasma lipid levels in man. 57
759055 1979
49
Type III hyperlipoproteinemia: diagnosis in whole plasma by apolipoprotein-E immunoassay. 57
200160 1977
50
Familial type III hyperlipoproteinemia. 57
200163 1977

Variations for Hyperlipoproteinemia, Type Iii

ClinVar genetic disease variations for Hyperlipoproteinemia, Type Iii:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APOE NM_000041.4(APOE):c.460C>A (p.Arg154Ser) SNV Pathogenic 17850 rs121918393 GRCh37: 19:45412013-45412013
GRCh38: 19:44908756-44908756
2 APOE NM_000041.4(APOE):c.237-2A>G SNV Pathogenic 17852 rs397514253 GRCh37: 19:45411788-45411788
GRCh38: 19:44908531-44908531
3 APOE NM_000041.4(APOE):c.415_435dup (p.Glu139_Gly145dup) Duplication Pathogenic 17853 rs397514254 GRCh37: 19:45411963-45411964
GRCh38: 19:44908706-44908707
4 APOE NM_000041.4(APOE):c.490A>G (p.Lys164Glu) SNV Pathogenic 17857 rs121918394 GRCh37: 19:45412043-45412043
GRCh38: 19:44908786-44908786
5 APOE NM_000041.4(APOE):c.490A>C (p.Lys164Gln) SNV Pathogenic 17858 rs121918394 GRCh37: 19:45412043-45412043
GRCh38: 19:44908786-44908786
6 APOE APOE, 1-BP DEL, 2919G Deletion Pathogenic 17861 GRCh37:
GRCh38:
7 APOE NM_000041.4(APOE):c.683G>A (p.Trp228Ter) SNV Pathogenic 17862 rs121918396 GRCh37: 19:45412236-45412236
GRCh38: 19:44908979-44908979
8 APOE NM_000041.4(APOE):c.488G>A (p.Arg163His) SNV Pathogenic 17865 rs121918397 GRCh37: 19:45412041-45412041
GRCh38: 19:44908784-44908784
9 LDLR NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter) Duplication Pathogenic 972902 GRCh37: 19:11221395-11221396
GRCh38: 19:11110719-11110720
10 LDLR NM_000527.5(LDLR):c.2312-2A>G SNV Pathogenic 972903 GRCh37: 19:11238682-11238682
GRCh38: 19:11128006-11128006
11 APOE NM_000041.2(APOE):c.526C>T (p.Arg176Cys) SNV Pathogenic 17848 rs7412 GRCh37: 19:45412079-45412079
GRCh38: 19:44908822-44908822
12 APOE NM_000041.4(APOE):c.388T>C (p.Cys130Arg) SNV Pathogenic 440870 rs429358 GRCh37: 19:45411941-45411941
GRCh38: 19:44908684-44908684
13 APOE NM_000041.4(APOE):c.487C>T (p.Arg163Cys) SNV Pathogenic 441264 rs769455 GRCh37: 19:45412040-45412040
GRCh38: 19:44908783-44908783
14 APOE NM_000041.2(APOE):c.526C>T (p.Arg176Cys) SNV Pathogenic 441265 rs7412 GRCh37: 19:45412079-45412079
GRCh38: 19:44908822-44908822
15 APOE NM_000041.2(APOE):c.526C>T (p.Arg176Cys) SNV Pathogenic 441266 rs7412 GRCh37: 19:45412079-45412079
GRCh38: 19:44908822-44908822
16 APOE NM_000041.4(APOE):c.388T>C (p.Cys130Arg) SNV Pathogenic 441267 rs429358 GRCh37: 19:45411941-45411941
GRCh38: 19:44908684-44908684
17 APOE NM_000041.4(APOE):c.487C>T (p.Arg163Cys) SNV Pathogenic/Likely pathogenic 17851 rs769455 GRCh37: 19:45412040-45412040
GRCh38: 19:44908783-44908783
18 APOE NM_000041.4(APOE):c.422A>G (p.Gln141Arg) SNV Uncertain significance 917851 GRCh37: 19:45411975-45411975
GRCh38: 19:44908718-44908718

UniProtKB/Swiss-Prot genetic disease variations for Hyperlipoproteinemia, Type Iii:

72
# Symbol AA change Variation ID SNP ID
1 APOE p.Glu31Lys VAR_000646 rs201672011
2 APOE p.Cys130Arg VAR_000652 rs429358
3 APOE p.Arg154Ser VAR_000656 rs121918393
4 APOE p.Arg154Cys VAR_000657 rs121918393
5 APOE p.Arg160Cys VAR_000658 rs387906567
6 APOE p.Arg163Cys VAR_000659 rs769455
7 APOE p.Lys164Gln VAR_000661 rs121918394
8 APOE p.Lys164Glu VAR_000662 rs121918394
9 APOE p.Arg176Cys VAR_000664 rs7412

Expression for Hyperlipoproteinemia, Type Iii

Search GEO for disease gene expression data for Hyperlipoproteinemia, Type Iii.

Pathways for Hyperlipoproteinemia, Type Iii

Pathways related to Hyperlipoproteinemia, Type Iii according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 LPL LPA LIPC LDLR HMGCR CETP
2
Show member pathways
12.62 LPL HMGCR APOA5 APOA1
3
Show member pathways
12.34 LPL LDLR APOE APOC2 APOB APOA1
4
Show member pathways
12.19 LPL LPA LIPC LDLR CETP APOE
5
Show member pathways
12 LDLR APOE APOB APOA1
6
Show member pathways
11.96 LPL LDLR APOE APOC2 APOB APOA1
7 11.76 APOE APOA5 APOA1
8
Show member pathways
11.65 APOE APOB APOA1
9 11.49 LPL APOA5 APOA1
10 11.44 LPL LDLR HMGCR
11
Show member pathways
11.44 LPL LPA LIPC LDLR HMGCR CETP
12 11.04 LDLR APOE
13 10.94 APOA5 APOA1
14 10.89 APOB APOA1
15 10.77 LDLR HMGCR

GO Terms for Hyperlipoproteinemia, Type Iii

Cellular components related to Hyperlipoproteinemia, Type Iii according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.11 LPL LPA LIPC CETP APOE APOC2
2 extracellular space GO:0005615 10.1 LPL LIPC CETP APOE APOC2 APOB
3 early endosome GO:0005769 9.85 LDLR APOE APOC2 APOB APOA5 APOA1
4 endoplasmic reticulum lumen GO:0005788 9.83 LIPC APOE APOB APOA5 APOA1
5 very-low-density lipoprotein particle GO:0034361 9.73 LPL APOE APOC2 APOB APOA5 APOA1
6 clathrin-coated endocytic vesicle membrane GO:0030669 9.65 LDLR APOE APOB
7 low-density lipoprotein particle GO:0034362 9.63 LDLR APOE APOC2 APOB APOA5 APOA1
8 intermediate-density lipoprotein particle GO:0034363 9.62 APOE APOC2 APOB APOA1
9 endocytic vesicle lumen GO:0071682 9.58 APOE APOB APOA1
10 spherical high-density lipoprotein particle GO:0034366 9.52 APOC2 APOA1
11 discoidal high-density lipoprotein particle GO:0034365 9.51 APOE APOA1
12 chylomicron GO:0042627 9.43 LPL APOE APOC2 APOB APOA5 APOA1
13 high-density lipoprotein particle GO:0034364 9.17 LIPC CETP APOE APOC2 APOB APOA5

Biological processes related to Hyperlipoproteinemia, Type Iii according to GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.1 LPL LPA LIPC LDLR HMGCR CETP
2 steroid metabolic process GO:0008202 10.03 LDLR HMGCR CETP APOE APOB APOA1
3 post-translational protein modification GO:0043687 10.01 APOE APOB APOA5 APOA1
4 cellular protein metabolic process GO:0044267 9.99 APOE