CAD
MCID: HYP724
MIFTS: 62

Hyperlipoproteinemia, Type Iii (CAD)

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hyperlipoproteinemia, Type Iii

MalaCards integrated aliases for Hyperlipoproteinemia, Type Iii:

Name: Hyperlipoproteinemia, Type Iii 57 37 13
Hyperlipoproteinemia Type Iii 12 76 75 55 44 15 73
Broad-Betalipoproteinemia 57 59 75 73
Familial Type 3 Hyperlipoproteinemia 12 29 6
Floating-Betalipoproteinemia 57 75 73
Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis 57 75
Coronary Artery Disease, Severe, Susceptibility to 57 6
Familial Hypercholesterolemia with Hyperlipemia 57 75
Familial Hyperbeta- and Prebetalipoproteinemia 57 75
Coronary Artery Disease, Severe 57 75
Familial Dysbetalipoproteinemia 59 75
Coronary Artery Disease 75 73
Dysbetalipoproteinemia Due to Defect in Apolipoprotein E-D 57
Dysbetalipoproteinemia Due to Defect in Apolipoprotein E 75
Familial Hypercholesterolaemia with Hyperlipaemia 12
Apolipoprotein E, Deficiency or Defect of 57
Deficiency or Defect of Apolipoprotein E 75
Familial Hyperlipoproteinemia Type Iii 76
Familial Hyperlipoproteinemia Type 3 59
Carbohydrate Induced Hyperlipemia 12
Hyperlipoproteinemia Type 3 59
Coronary Arteriosclerosis 73
Coronary Heart Disease 73
Remnant Hyperlipidemia 12
Hyperlipoproteinemia 3 75
Hyperlipidemia Type 3 59
Dyslipidemia Type 3 59
Broad Beta Disease 75
Remnant Disease 59
Hlp Type 3 59
Hlpp3 75
Cad 75

Characteristics:

Orphanet epidemiological data:

59
hyperlipoproteinemia type 3
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-5/10000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



Summaries for Hyperlipoproteinemia, Type Iii

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Hyperlipoproteinemia, Type Iii, also known as hyperlipoproteinemia type iii, is related to hyperlipoproteinemia, type iv and atherosclerosis susceptibility, and has symptoms including tremor, angina pectoris and edema. An important gene associated with Hyperlipoproteinemia, Type Iii is APOE (Apolipoprotein E), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Pravastatin and Fenofibrate have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and lung, and related phenotypes are obesity and diabetes mellitus

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)

Wikipedia : 76 Familial dysbetalipoproteinemia or type III hyperlipoproteinemia (also known as remnant hyperlipidemia,... more...

Related Diseases for Hyperlipoproteinemia, Type Iii

Diseases in the Hyperlipoproteinemia, Type Iii family:

Hyperlipoproteinemia, Type Iv Hyperlipoproteinemia, Type V
Hyperlipoproteinemia, Type I Hyperlipoproteinemia, Type Id

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

(show top 50) (show all 437)
# Related Disease Score Top Affiliating Genes
1 hyperlipoproteinemia, type iv 32.5 APOA5 APOB LPL
2 atherosclerosis susceptibility 32.2 APOA1 APOB APOE CETP LDLR LPA
3 hypercholesterolemia, autosomal dominant, type b 31.9 APOB APOE LDLR
4 heart disease 31.8 APOA1 APOA5 APOB APOE LDLR LPL
5 hyperlipidemia, familial combined 31.7 APOA1 APOA5 APOB COG2 LPA LPL
6 hypercholesterolemia, familial 31.6 APOA1 APOB APOE CETP COG2 HMGCR
7 arteriosclerosis 31.4 APOA1 APOB APOE COG2 HMGCR LPA
8 hyperlipoproteinemia, type v 31.4 APOA1 APOA5 APOB APOE HMGCR LPL
9 coronary heart disease 1 31.3 APOA1 APOA5 APOB APOE CETP COG2
10 tangier disease 31.2 APOA1 APOB APOE CETP LPA LPL
11 hypoalphalipoproteinemia, primary 31.2 APOA1 APOB CETP LDLR LIPC LPL
12 coronary stenosis 30.7 APOA1 APOB APOE CETP
13 peripheral vascular disease 30.7 APOA1 APOB LPA
14 aortic atherosclerosis 30.3 APOE CETP LDLR LPA
15 cerebrovascular disease 30.3 APOA1 APOB APOE LDLR
16 arteries, anomalies of 30.3 APOA1 APOB APOE CETP COG2 LDLR
17 ischemic heart disease 30.2 APOA1 APOB APOE LPL
18 chronic kidney failure 30.2 APOB HMGCR LPA
19 hypertension, essential 30.2 APOA1 APOB LPA LPL
20 diabetes mellitus 30.0 APOA1 APOA5 APOB COG2 HMGCR LIPC
21 carotid artery disease 29.9 APOA1 APOB APOE COG2 LPA
22 stroke, ischemic 29.8 APOB APOE COG2 HMGCR LPA
23 macular degeneration, age-related, 1 29.8 APOB APOE CETP LIPC
24 coronary artery anomaly 29.8 APOA1 APOA5 APOB CETP COG2 HMGCR
25 diabetes mellitus, noninsulin-dependent 29.6 APOA1 APOB APOE CETP COG2 HMGCR
26 alzheimer disease 2 29.6 APOE CETP
27 hemorrhage, intracerebral 29.6 APOE HMGCR
28 vascular disease 29.6 APOA1 APOB APOE CETP HMGCR LDLR
29 xanthomatosis 29.5 APOB APOE HMGCR LDLR LPA LPL
30 gallbladder disease 29.4 APOA1 APOB APOE CETP
31 homozygous familial hypercholesterolemia 29.4 APOB APOE HMGCR LDLR LIPC
32 defective apolipoprotein b-100 29.3 APOB APOE HMGCR LDLR
33 hypertriglyceridemia, familial 29.3 APOA1 APOA5 APOB APOE CETP LIPC
34 arcus corneae 29.2 APOA1 APOB APOE CETP COG2 LDLR
35 myocardial infarction 28.8 APOA1 APOA5 APOB APOE CETP COG2
36 lipid metabolism disorder 28.7 APOA1 APOA5 APOB APOE CETP COG2
37 familial hyperlipidemia 28.7 APOA1 APOB APOE CETP COG2 HMGCR
38 body mass index quantitative trait locus 11 28.6 APOA1 APOA5 APOB APOE CETP COG2
39 coronary artery disease, autosomal dominant, 1 12.7
40 coronary artery disease, autosomal dominant 2 12.6
41 abdominal obesity-metabolic syndrome 3 11.8
42 coronary heart disease 5 11.8
43 hyperlipidemia type 3 11.7
44 sitosterolemia 11.6
45 hyperlipidemia, combined, 2 11.1
46 hyperaldosteronism, familial, type ii 11.1
47 peripheral arterial occlusive disease 1 11.1
48 morbid obesity and spermatogenic failure 11.1
49 paget disease of bone 6 11.1
50 retinal ischemia 11.1

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



Diseases related to Hyperlipoproteinemia, Type Iii

Symptoms & Phenotypes for Hyperlipoproteinemia, Type Iii

Clinical features from OMIM:

617347

Human phenotypes related to Hyperlipoproteinemia, Type Iii:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
2 diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000819
3 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
4 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
5 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002155
6 angina pectoris 59 32 occasional (7.5%) Occasional (29-5%) HP:0001681
7 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0001397
8 hypercholesterolemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003124
9 gout 59 32 occasional (7.5%) Occasional (29-5%) HP:0001997
10 xanthelasma 59 32 frequent (33%) Frequent (79-30%) HP:0001114
11 corneal arcus 59 32 frequent (33%) Frequent (79-30%) HP:0001084
12 accelerated atherosclerosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004943
13 renal steatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000799
14 acute pancreatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001735
15 tendon xanthomatosis 59 32 frequent (33%) Frequent (79-30%) HP:0010874
16 aortic atherosclerosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012397
17 increased circulating low-density lipoprotein levels 59 Very frequent (99-80%)
18 abnormality of the skin 59 Very frequent (99-80%)
19 premature coronary artery disease 59 Occasional (29-5%)
20 hypoalphalipoproteinemia 59 Very frequent (99-80%)
21 atheromatosis 59 Frequent (79-30%)
22 peripheral arterial disease 59 Occasional (29-5%)
23 premature peripheral vascular disease 59 Occasional (29-5%)
24 peripheral arterial stenosis 32 occasional (7.5%) HP:0004950
25 decreased hdl cholesterol concentration 32 hallmark (90%) HP:0003233
26 increased ldl cholesterol concentration 32 hallmark (90%) HP:0003141
27 type iv atherosclerotic lesion 32 frequent (33%) HP:0002635
28 premature coronary artery atherosclerosis 32 occasional (7.5%) HP:0005181

UMLS symptoms related to Hyperlipoproteinemia, Type Iii:


tremor, angina pectoris, edema, chest pain, 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 9.65 APOA1 APOA5 APOB APOE CETP HMGCR
2 Increased LDL uptake GR00340-A-1 8.92 APOA1 APOE 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 APOE COG2 HMGCR
2 liver/biliary system MP:0005370 9.1 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 all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pravastatin Approved Phase 3 81093-37-0 54687
2
Fenofibrate Approved Phase 3 49562-28-9 3339
3
Torcetrapib Investigational Phase 3 262352-17-0 159325
4 Calcium, Dietary Phase 3
5 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
6 Lipid Regulating Agents Phase 3
7 Anticholesteremic Agents Phase 3
8 Rosuvastatin Calcium Phase 3 147098-20-2
9 Antimetabolites Phase 3
10 Hypolipidemic Agents Phase 3
11 Atorvastatin Calcium Phase 3 134523-03-8

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Evolocumab Versus Placebo Added to Standard Lipid-lowering Therapy on Fasting and Post Fat Load Lipids in Patients With Familial Dysbetalipoproteinemia Not yet recruiting NCT03811223 Phase 4 Evolocumab Auto-Injector [Repatha];Placebos
2 Type III Dysbetalipoproteinemia Completed NCT00214604 Phase 3 Rosuvastatin;rosuvastatin;pravastatin
3 Study To Evaluate The Effect Of Torcetrapib/Atorvastatin In Subjects With A Genetic Cholesterol Disorder. Terminated NCT00145431 Phase 3 torcetrapib/atorvastatin;atorvastatin;fenofibrate
4 DARK STUDY "DysbetalipoproteinemiA and atheRoma Risk" Unknown status NCT01760265
5 Evaluation of Lipoproteins Recruiting NCT00001168

Search NIH Clinical Center for Hyperlipoproteinemia, Type Iii

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Heart, Liver, Lung, Skin, Brain, Kidney, Bone

Publications for Hyperlipoproteinemia, Type Iii

Articles related to Hyperlipoproteinemia, Type Iii:

# Title Authors Year
1
Case of familial hyperlipoproteinemia type III hypertriglyceridemia induced acute pancreatitis: Role for outpatient apheresis maintenance therapy. ( 29142480 )
2017
2
[Apolipoprotein E phenotyping--useful in the study of hyperlipoproteinemia type III]. ( 8480294 )
1993
3
Normolipemic dysbetalipoproteinemia and hyperlipoproteinemia type III in subjects homozygous for a rare genetic apolipoprotein E variant (apoE1). ( 1973700 )
1990
4
Serum and interstitial fluid apolipoprotein E levels in the healthy and in hyperlipoproteinemia type III as studied by radioimmunoassay. ( 4042371 )
1985
5
Apolipoprotein E (role in lipoprotein metabolism and pathophysiology of hyperlipoproteinemia type III). ( 6283616 )
1982
6
Polymorphism of apolipoprotein E. II. Genetics of hyperlipoproteinemia type III. ( 215360 )
1979
7
Polymorphism of apolipoprotein E. I. Methodological aspects and diagnosis of hyperlipoproteinemia type III without ultracentrifugation. ( 215358 )
1978
8
Familial hyperlipoproteinemia type III: deficiency of a specific apolipoprotein (apo E-III) in the very-low-density lipoproteins. ( 169165 )
1975

Variations for Hyperlipoproteinemia, Type Iii

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

75
# 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

ClinVar genetic disease variations for Hyperlipoproteinemia, Type Iii:

6 (show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 APOE NM_000041.2(APOE): c.526C> T (p.Arg176Cys) single nucleotide variant drug response rs7412 GRCh37 Chromosome 19, 45412079: 45412079
2 APOE NM_000041.2(APOE): c.526C> T (p.Arg176Cys) single nucleotide variant drug response rs7412 GRCh38 Chromosome 19, 44908822: 44908822
3 APOE NM_000041.3(APOE): c.460C> A (p.Arg154Ser) single nucleotide variant Pathogenic rs121918393 GRCh37 Chromosome 19, 45412013: 45412013
4 APOE NM_000041.3(APOE): c.460C> A (p.Arg154Ser) single nucleotide variant Pathogenic rs121918393 GRCh38 Chromosome 19, 44908756: 44908756
5 APOE NM_000041.3(APOE): c.487C> T (p.Arg163Cys) single nucleotide variant Pathogenic rs769455 GRCh37 Chromosome 19, 45412040: 45412040
6 APOE NM_000041.3(APOE): c.487C> T (p.Arg163Cys) single nucleotide variant Pathogenic rs769455 GRCh38 Chromosome 19, 44908783: 44908783
7 APOE NM_000041.3(APOE): c.237-2A> G single nucleotide variant Pathogenic rs397514253 GRCh37 Chromosome 19, 45411788: 45411788
8 APOE NM_000041.3(APOE): c.237-2A> G single nucleotide variant Pathogenic rs397514253 GRCh38 Chromosome 19, 44908531: 44908531
9 APOE NM_000041.3(APOE) duplication Pathogenic rs397514254 GRCh37 Chromosome 19, 45411968: 45411988
10 APOE NM_000041.3(APOE) duplication Pathogenic rs397514254 GRCh38 Chromosome 19, 44908711: 44908731
11 APOE NM_000041.3(APOE): c.490A> G (p.Lys164Glu) single nucleotide variant Pathogenic rs121918394 GRCh37 Chromosome 19, 45412043: 45412043
12 APOE NM_000041.3(APOE): c.490A> G (p.Lys164Glu) single nucleotide variant Pathogenic rs121918394 GRCh38 Chromosome 19, 44908786: 44908786
13 APOE NM_000041.3(APOE): c.490A> C (p.Lys164Gln) single nucleotide variant Pathogenic rs121918394 GRCh37 Chromosome 19, 45412043: 45412043
14 APOE NM_000041.3(APOE): c.490A> C (p.Lys164Gln) single nucleotide variant Pathogenic rs121918394 GRCh38 Chromosome 19, 44908786: 44908786
15 APOE NM_000041.3(APOE): c.91G> A (p.Glu31Lys) single nucleotide variant Pathogenic rs201672011 GRCh37 Chromosome 19, 45411064: 45411064
16 APOE NM_000041.3(APOE): c.91G> A (p.Glu31Lys) single nucleotide variant Pathogenic rs201672011 GRCh38 Chromosome 19, 44907807: 44907807
17 APOE APOE, 1-BP DEL, 2919G deletion Pathogenic
18 APOE NM_000041.3(APOE): c.683G> A (p.Trp228Ter) single nucleotide variant Pathogenic rs121918396 GRCh37 Chromosome 19, 45412236: 45412236
19 APOE NM_000041.3(APOE): c.683G> A (p.Trp228Ter) single nucleotide variant Pathogenic rs121918396 GRCh38 Chromosome 19, 44908979: 44908979
20 APOE NM_000041.3(APOE): c.388T> C (p.Cys130Arg) single nucleotide variant other rs429358 GRCh37 Chromosome 19, 45411941: 45411941
21 APOE NM_000041.3(APOE): c.388T> C (p.Cys130Arg) single nucleotide variant other rs429358 GRCh38 Chromosome 19, 44908684: 44908684
22 APOE NM_000041.3(APOE): c.488G> A (p.Arg163His) single nucleotide variant Pathogenic rs121918397 GRCh37 Chromosome 19, 45412041: 45412041
23 APOE NM_000041.3(APOE): c.488G> A (p.Arg163His) single nucleotide variant Pathogenic rs121918397 GRCh38 Chromosome 19, 44908784: 44908784
24 APOE NM_000041.3(APOE): c.-83-203T= single nucleotide variant risk factor rs405509 GRCh37 Chromosome 19, 45408836: 45408836
25 APOE NM_000041.3(APOE): c.-83-203T= single nucleotide variant risk factor rs405509 GRCh38 Chromosome 19, 44905579: 44905579
26 APOE NM_000041.3(APOE): c.478C> T (p.Arg160Cys) single nucleotide variant no interpretation for the single variant rs387906567 GRCh37 Chromosome 19, 45412031: 45412031
27 APOE NM_000041.3(APOE): c.478C> T (p.Arg160Cys) single nucleotide variant no interpretation for the single variant rs387906567 GRCh38 Chromosome 19, 44908774: 44908774
28 APOE NM_000041.2(APOE): c.725G> A (p.Arg242Gln) single nucleotide variant no interpretation for the single variant rs267606663 GRCh37 Chromosome 19, 45412278: 45412278
29 APOE NM_000041.2(APOE): c.725G> A (p.Arg242Gln) single nucleotide variant no interpretation for the single variant rs267606663 GRCh38 Chromosome 19, 44909021: 44909021
30 APOE NM_000041.3(APOE): c.761T> A (p.Val254Glu) single nucleotide variant no interpretation for the single variant rs199768005 GRCh37 Chromosome 19, 45412314: 45412314
31 APOE NM_000041.3(APOE): c.761T> A (p.Val254Glu) single nucleotide variant no interpretation for the single variant rs199768005 GRCh38 Chromosome 19, 44909057: 44909057
32 APOE NM_000041.3(APOE): c.805C> G (p.Arg269Gly) single nucleotide variant no interpretation for the single variant rs267606661 GRCh37 Chromosome 19, 45412358: 45412358
33 APOE NM_000041.3(APOE): c.805C> G (p.Arg269Gly) single nucleotide variant no interpretation for the single variant rs267606661 GRCh38 Chromosome 19, 44909101: 44909101

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.63 APOA1 APOA5 APOB APOE CETP HMGCR
2
Show member pathways
12.33 APOA1 APOB APOE LDLR LPL
3
Show member pathways
12.14 APOA1 APOA5 APOB APOE CETP LDLR
4
Show member pathways
12 APOA1 APOB APOE LDLR
5
Show member pathways
11.88 APOA1 APOB APOE LDLR LPL
6 11.76 APOA1 APOA5 APOE
7
Show member pathways
11.65 APOA1 APOB APOE
8 11.48 APOA1 APOA5 LPL
9 11.44 HMGCR LDLR LPL
10
Show member pathways
11.39 APOA1 APOA5 APOB APOE CETP HMGCR
11 11.04 APOE LDLR
12 10.94 APOA1 APOA5
13 10.89 APOA1 APOB
14 10.77 HMGCR LDLR

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 early endosome GO:0005769 9.81 APOA1 APOB APOE LDLR
2 endoplasmic reticulum lumen GO:0005788 9.8 APOA1 APOA5 APOB APOE LIPC
3 high-density lipoprotein particle GO:0034364 9.65 APOA1 APOA5 APOE CETP LIPC
4 clathrin-coated endocytic vesicle membrane GO:0030669 9.63 APOB APOE LDLR
5 very-low-density lipoprotein particle GO:0034361 9.55 APOA1 APOA5 APOB APOE LPL
6 endocytic vesicle lumen GO:0071682 9.54 APOA1 APOB APOE
7 intermediate-density lipoprotein particle GO:0034363 9.5 APOA1 APOB APOE
8 discoidal high-density lipoprotein particle GO:0034365 9.48 APOA1 APOE
9 low-density lipoprotein particle GO:0034362 9.35 APOA1 APOA5 APOB APOE LDLR
10 chylomicron GO:0042627 9.02 APOA1 APOA5 APOB APOE LPL
11 extracellular space GO:0005615 10.1 APOA1 APOA5 APOB APOE CETP LIPC
12 extracellular region GO:0005576 10.09 APOA1 APOA5 APOB APOE CETP LIPC
13 extracellular exosome GO:0070062 10.07 APOA1 APOB APOE CETP MGAM SERPINB6

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

(show top 50) (show all 51)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.99 APOA1 APOA5 APOB APOE
2 lipid transport GO:0006869 9.98 APOA1 APOA5 APOB APOE CETP LDLR
3 cellular protein metabolic process GO:0044267 9.96 APOA1 APOA5 APOB APOE
4 receptor-mediated endocytosis GO:0006898 9.95 APOA1 APOB APOE LDLR
5 cholesterol biosynthetic process GO:0006695 9.89 APOA1 APOA5 APOE HMGCR
6 cholesterol transport GO:0030301 9.89 APOA1 APOB CETP LDLR LIPC
7 triglyceride metabolic process GO:0006641 9.88 APOA5 APOE CETP LPL
8 lipoprotein metabolic process GO:0042157 9.88 APOA1 APOA5 APOB APOE LDLR
9 lipid catabolic process GO:0016042 9.87 APOB LIPC LPL
10 cholesterol efflux GO:0033344 9.87 APOA1 APOA5 APOB APOE
11 cholesterol metabolic process GO:0008203 9.87 APOA1 APOB APOE CETP HMGCR LDLR
12 regulation of lipid metabolic process GO:0019216 9.86 APOA1 APOA5 HMGCR
13 high-density lipoprotein particle remodeling GO:0034375 9.85 APOA1 APOE CETP LIPC
14 retinoid metabolic process GO:0001523 9.83 APOA1 APOB APOE
15 chylomicron remnant clearance GO:0034382 9.83 APOB APOE LDLR LIPC
16 phospholipid transport GO:0015914 9.82 APOA1 CETP LDLR
17 positive regulation of lipid biosynthetic process GO:0046889 9.81 APOA1 APOA5 APOE
18 chylomicron remodeling GO:0034371 9.81 APOA1 APOB APOE LPL
19 high-density lipoprotein particle assembly GO:0034380 9.8 APOA1 APOA5 APOE
20 phospholipid efflux GO:0033700 9.8 APOA1 APOA5 APOE
21 reverse cholesterol transport GO:0043691 9.8 APOA1 APOA5 APOE CETP LIPC
22 chylomicron assembly GO:0034378 9.79 APOA1 APOB APOE
23 high-density lipoprotein particle clearance GO:0034384 9.79 APOA1 APOE LDLR
24 positive regulation of cholesterol esterification GO:0010873 9.78 APOA1 APOA5 APOE
25 regulation of cholesterol transport GO:0032374 9.77 APOA1 APOA5 APOE
26 low-density lipoprotein particle remodeling GO:0034374 9.77 APOB APOE CETP LIPC LPA
27 lipoprotein biosynthetic process GO:0042158 9.76 APOA1 APOB APOE
28 lipoprotein catabolic process GO:0042159 9.73 APOB APOE LDLR
29 triglyceride homeostasis GO:0070328 9.73 APOA1 APOA5 APOE CETP LIPC LPL
30 regulation of cholesterol biosynthetic process GO:0045540 9.71 APOB HMGCR
31 long-term memory GO:0007616 9.71 APOE LDLR
32 positive regulation of endocytosis GO:0045807 9.71 APOE LDLR
33 low-density lipoprotein particle clearance GO:0034383 9.7 APOB LDLR
34 artery morphogenesis GO:0048844 9.7 APOB APOE
35 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.7 APOB LPL
36 regulation of cholesterol metabolic process GO:0090181 9.69 APOE LDLR
37 phosphatidylcholine metabolic process GO:0046470 9.69 APOA5 CETP
38 regulation of protein metabolic process GO:0051246 9.68 APOE LDLR
39 phospholipid homeostasis GO:0055091 9.68 APOA1 CETP
40 regulation of lipoprotein lipase activity GO:0051004 9.68 LIPC LPL
41 positive regulation of cholesterol storage GO:0010886 9.67 APOB LPL
42 regulation of Cdc42 protein signal transduction GO:0032489 9.67 APOA1 APOE
43 cholesterol import GO:0070508 9.67 APOA1 LDLR
44 very-low-density lipoprotein particle clearance GO:0034447 9.66 APOB APOE
45 regulation of intestinal cholesterol absorption GO:0030300 9.65 APOA1 APOA5
46 response to caloric restriction GO:0061771 9.64 APOE LDLR
47 triglyceride catabolic process GO:0019433 9.63 APOA1 APOA5 APOB APOE LIPC LPL
48 cholesterol homeostasis GO:0042632 9.56 APOA1 APOA5 APOB APOE CETP LDLR
49 very-low-density lipoprotein particle remodeling GO:0034372 9.1 APOA1 APOA5 APOE CETP LIPC LPL
50 lipid metabolic process GO:0006629 10.11 APOA1 APOB APOE CETP HMGCR LDLR

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.85 APOA1 APOA5 APOB APOE CETP
2 phospholipid binding GO:0005543 9.73 APOA1 APOA5 APOB APOE
3 amyloid-beta binding GO:0001540 9.7 APOA1 APOE LDLR
4 cholesterol binding GO:0015485 9.62 APOA1 APOA5 APOE CETP
5 phosphatidylcholine binding GO:0031210 9.58 APOA5 CETP
6 low-density lipoprotein particle receptor binding GO:0050750 9.58 APOA5 APOB APOE
7 triglyceride lipase activity GO:0004806 9.57 LIPC LPL
8 phospholipid transporter activity GO:0005548 9.56 APOA1 CETP
9 low-density lipoprotein particle binding GO:0030169 9.55 LDLR LIPC
10 phospholipase activity GO:0004620 9.54 LIPC LPL
11 apolipoprotein binding GO:0034185 9.54 LIPC LPA LPL
12 lipase binding GO:0035473 9.51 APOA5 APOB
13 lipoprotein particle binding GO:0071813 9.49 APOA1 APOE
14 triglyceride binding GO:0017129 9.48 CETP LPL
15 lipid transporter activity GO:0005319 9.46 APOA1 APOB APOE CETP
16 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.43 APOA1 APOA5 APOE
17 heparin binding GO:0008201 9.43 APOA5 APOB APOE LIPC LPA LPL
18 cholesterol transporter activity GO:0017127 9.02 APOA1 APOA5 APOB APOE CETP

Sources for Hyperlipoproteinemia, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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