CAD
MCID: HYP724
MIFTS: 61

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 58 38 13
Hyperlipoproteinemia Type Iii 12 77 76 56 45 15 74
Familial Type 3 Hyperlipoproteinemia 12 30 6
Floating-Betalipoproteinemia 58 76 74
Broad-Betalipoproteinemia 58 76 74
Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis 58 76
Familial Hypercholesterolemia with Hyperlipemia 58 76
Familial Hyperbeta- and Prebetalipoproteinemia 58 76
Coronary Artery Disease, Severe 58 76
Coronary Artery Disease 76 74
Dysbetalipoproteinemia Due to Defect in Apolipoprotein E-D 58
Dysbetalipoproteinemia Due to Defect in Apolipoprotein E 76
Coronary Artery Disease, Severe, Susceptibility to 58
Familial Hypercholesterolaemia with Hyperlipaemia 12
Apolipoprotein E, Deficiency or Defect of 58
Deficiency or Defect of Apolipoprotein E 76
Familial Hyperlipoproteinemia Type Iii 77
Carbohydrate Induced Hyperlipemia 12
Familial Dysbetalipoproteinemia 76
Familial Dyslipidemia Type 3 60
Remnant Hyperlipoproteinemia 60
Hyperlipoproteinemia Type 3 60
Coronary Arteriosclerosis 74
Coronary Heart Disease 74
Remnant Hyperlipidemia 12
Dysbetalipoproteinemia 60
Hyperlipoproteinemia 3 76
Hyperlipidemia Type 3 60
Broad Beta Disease 76
Broad-Beta Disease 60
Hlp Type 3 60
Hlpp3 76
Cad 76

Characteristics:

Orphanet epidemiological data:

60
dysbetalipoproteinemia
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 : 76 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 atherosclerosis susceptibility and hypercholesterolemia, autosomal dominant, type b, 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 Evolocumab and Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include heart and skin, and related phenotypes are hypertriglyceridemia and hypercholesterolemia

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 : 58 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 : 77 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 513)
# Related Disease Score Top Affiliating Genes
1 atherosclerosis susceptibility 32.1 APOA1 APOB APOE CETP LDLR LPA
2 hypercholesterolemia, autosomal dominant, type b 32.0 APOB APOE LDLR
3 hyperlipoproteinemia, type iv 31.9 APOA5 APOB APOC2 LPL
4 hypoalphalipoproteinemia, primary 31.6 APOA1 APOB CETP LDLR LIPC LPL
5 arteriosclerosis 31.3 APOA1 APOB APOE COG2 HMGCR LPA
6 tangier disease 31.2 APOA1 APOB APOE CETP LPA LPL
7 vascular disease 31.0 APOA1 APOB APOE CETP HMGCR LDLR
8 peripheral vascular disease 30.9 APOA1 APOB LPA
9 coronary stenosis 30.8 APOA1 APOB APOE CETP
10 coronary heart disease 1 30.8 APOA1 APOA5 APOB APOE CETP COG2
11 hyperlipidemia, familial combined 30.8 APOA1 APOA5 APOB APOC2 COG2 LPA
12 hyperlipoproteinemia, type v 30.7 APOA1 APOA5 APOB APOC2 APOE HMGCR
13 cerebrovascular disease 30.6 APOA1 APOB APOE LDLR
14 ischemic heart disease 30.6 APOA1 APOB APOE LPL
15 chronic kidney failure 30.5 APOB HMGCR LPA
16 hypertension, essential 30.4 APOA1 APOB LPA LPL
17 heart disease 30.3 APOA1 APOA5 APOB APOE LDLR LPL
18 aortic atherosclerosis 30.3 APOE CETP LDLR LPA
19 macular degeneration, age-related, 1 30.2 APOB APOE CETP LIPC
20 arteries, anomalies of 30.1 APOA1 APOB APOE CETP COG2 LDLR
21 carotid artery disease 29.9 APOA1 APOB APOE COG2 LPA
22 stroke, ischemic 29.6 APOB APOE COG2 HMGCR LPA
23 alzheimer disease 2 29.6 APOE CETP
24 apolipoprotein c-ii deficiency 29.6 APOC2 LPL
25 pancreatitis 29.6 APOA5 APOC2 LPL
26 gallbladder disease 29.5 APOA1 APOB APOE CETP
27 coronary artery anomaly 29.5 APOA1 APOA5 APOB CETP COG2 HMGCR
28 defective apolipoprotein b-100 29.4 APOB APOE HMGCR LDLR
29 xanthomatosis 29.4 APOB APOE HMGCR LDLR LPA LPL
30 homozygous familial hypercholesterolemia 29.4 APOB APOE HMGCR LDLR LIPC
31 arcus corneae 28.9 APOA1 APOB APOE CETP COG2 LDLR
32 hypertriglyceridemia, familial 28.6 APOA1 APOA5 APOB APOC2 APOE CETP
33 myocardial infarction 28.5 APOA1 APOA5 APOB APOE CETP COG2
34 diabetes mellitus, noninsulin-dependent 28.5 APOA1 APOB APOC2 APOE CETP COG2
35 body mass index quantitative trait locus 11 28.3 APOA1 APOA5 APOB APOE CETP COG2
36 diabetes mellitus 28.2 APOA1 APOA5 APOB COG2 HMGCR LIPC
37 familial hyperlipidemia 27.5 APOA1 APOB APOC2 APOE CETP COG2
38 lipid metabolism disorder 27.4 APOA1 APOA5 APOB APOE CETP COG2
39 hypercholesterolemia, familial 27.3 APOA1 APOB APOC2 APOE CETP COG2
40 coronary artery disease, autosomal dominant, 1 12.7
41 coronary artery disease, autosomal dominant 2 12.6
42 abdominal obesity-metabolic syndrome 3 11.9
43 coronary heart disease 5 11.8
44 hyperlipidemia type 3 11.7
45 sitosterolemia 11.6
46 rere-related disorders 11.6
47 hyperlipidemia, combined, 2 11.1
48 hyperaldosteronism, familial, type ii 11.1
49 peripheral arterial occlusive disease 1 11.1
50 morbid obesity and spermatogenic failure 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

Human phenotypes related to Hyperlipoproteinemia, Type Iii:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002155
2 hypercholesterolemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003124
3 decreased hdl cholesterol concentration 33 hallmark (90%) HP:0003233
4 increased ldl cholesterol concentration 33 hallmark (90%) HP:0003141
5 obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001513
6 diabetes mellitus 60 33 frequent (33%) Frequent (79-30%) HP:0000819
7 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
8 hepatic steatosis 60 33 frequent (33%) Frequent (79-30%) HP:0001397
9 xanthelasma 60 33 frequent (33%) Frequent (79-30%) HP:0001114
10 corneal arcus 60 33 frequent (33%) Frequent (79-30%) HP:0001084
11 tendon xanthomatosis 60 33 frequent (33%) Frequent (79-30%) HP:0010874
12 type iv atherosclerotic lesion 33 frequent (33%) HP:0002635
13 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
14 angina pectoris 60 33 occasional (7.5%) Occasional (29-5%) HP:0001681
15 gout 60 33 occasional (7.5%) Occasional (29-5%) HP:0001997
16 accelerated atherosclerosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004943
17 renal steatosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000799
18 acute pancreatitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001735
19 peripheral arterial stenosis 33 occasional (7.5%) HP:0004950
20 premature coronary artery atherosclerosis 33 occasional (7.5%) HP:0005181
21 aortic atherosclerotic lesion 33 occasional (7.5%) HP:0012397
22 increased circulating low-density lipoprotein levels 60 Very frequent (99-80%)
23 abnormality of the skin 60 Very frequent (99-80%)
24 premature coronary artery disease 60 Occasional (29-5%)
25 hypoalphalipoproteinemia 60 Very frequent (99-80%)
26 atheromatosis 60 Frequent (79-30%)
27 peripheral arterial disease 60 Occasional (29-5%)
28 premature peripheral vascular disease 60 Occasional (29-5%)
29 aortic atherosclerosis 60 Occasional (29-5%)

Clinical features from OMIM:

617347

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:

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 APOA1 APOA5 APOB APOC2 APOE COG2
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 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Evolocumab Approved Phase 4 1256937-27-5
2 Antimetabolites Phase 4,Phase 3
3 Hypolipidemic Agents Phase 4,Phase 3
4 Anticholesteremic Agents Phase 4,Phase 3
5 Lipid Regulating Agents Phase 4,Phase 3
6 Immunoglobulins Phase 4
7 Antibodies, Monoclonal Phase 4
8 Antibodies Phase 4
9 Immunologic Factors Phase 4
10
Pravastatin Approved Phase 3 81093-37-0 54687
11
Atorvastatin Approved Phase 3 134523-00-5 60823
12
Fenofibrate Approved Phase 3 49562-28-9 3339
13
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
14
Torcetrapib Investigational Phase 3 262352-17-0 159325
15 Calcium, Dietary Phase 3
16 Rosuvastatin Calcium Phase 3 147098-20-2
17 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3

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 74 / NDF-RT 52 :


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 30 APOE

Anatomical Context for Hyperlipoproteinemia, Type Iii

MalaCards organs/tissues related to Hyperlipoproteinemia, Type Iii:

42
Heart, Skin

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:

76
# 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 31)
# 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_000041.4(APOE): c.388T> C (p.Cys130Arg) single nucleotide variant other rs429358 GRCh37 Chromosome 19, 45411941: 45411941
21 APOE NM_000041.4(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.478C> T (p.Arg160Cys) single nucleotide variant no interpretation for the single variant rs387906567 GRCh37 Chromosome 19, 45412031: 45412031
25 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
26 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
27 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
28 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
29 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
30 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
31 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
13.66 APOA1 APOA5 APOB APOC2 APOE CETP
2
Show member pathways
12.41 APOA1 APOB APOC2 APOE LDLR LPL
3
Show member pathways
12.19 APOA1 APOA5 APOB APOC2 APOE CETP
4
Show member pathways
12 APOA1 APOB APOE LDLR
5
Show member pathways
11.96 APOA1 APOB APOC2 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
11.44 APOA1 APOA5 APOB APOC2 APOE CETP
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 endoplasmic reticulum lumen GO:0005788 9.83 APOA1 APOA5 APOB APOE LIPC
2 early endosome GO:0005769 9.8 APOA1 APOB APOC2 APOE LDLR
3 high-density lipoprotein particle GO:0034364 9.73 APOA1 APOA5 APOC2 APOE CETP LIPC
4 clathrin-coated endocytic vesicle membrane GO:0030669 9.65 APOB APOE LDLR
5 very-low-density lipoprotein particle GO:0034361 9.63 APOA1 APOA5 APOB APOC2 APOE LPL
6 intermediate-density lipoprotein particle GO:0034363 9.62 APOA1 APOB APOC2 APOE
7 endocytic vesicle lumen GO:0071682 9.54 APOA1 APOB APOE
8 spherical high-density lipoprotein particle GO:0034366 9.52 APOA1 APOC2
9 discoidal high-density lipoprotein particle GO:0034365 9.49 APOA1 APOE
10 chylomicron GO:0042627 9.43 APOA1 APOA5 APOB APOC2 APOE LPL
11 low-density lipoprotein particle GO:0034362 9.1 APOA1 APOA5 APOB APOC2 APOE LDLR
12 extracellular space GO:0005615 10.11 APOA1 APOA5 APOB APOC2 APOE CETP
13 extracellular region GO:0005576 10.11 APOA1 APOA5 APOB APOC2 APOE CETP

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

(show top 50) (show all 57)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.97 APOA1 APOA5 APOB APOE
2 receptor-mediated endocytosis GO:0006898 9.97 APOA1 APOB APOE LDLR
3 cholesterol transport GO:0030301 9.95 APOA1 APOB CETP LDLR LIPC
4 lipid catabolic process GO:0016042 9.94 APOB APOC2 LIPC LPL
5 retinoid metabolic process GO:0001523 9.93 APOA1 APOB APOC2 APOE
6 cholesterol efflux GO:0033344 9.93 APOA1 APOA5 APOB APOC2 APOE
7 lipoprotein metabolic process GO:0042157 9.92 APOA1 APOA5 APOB APOE LDLR
8 lipid transport GO:0006869 9.92 APOA1 APOA5 APOB APOC2 APOE CETP
9 cholesterol biosynthetic process GO:0006695 9.91 APOA1 APOA5 APOE HMGCR
10 high-density lipoprotein particle remodeling GO:0034375 9.91 APOA1 APOC2 APOE CETP LIPC
11 triglyceride metabolic process GO:0006641 9.9 APOA5 APOE CETP LPL
12 low-density lipoprotein particle remodeling GO:0034374 9.89 APOB APOE CETP LIPC LPA
13 phospholipid efflux GO:0033700 9.88 APOA1 APOA5 APOC2 APOE
14 regulation of lipid metabolic process GO:0019216 9.87 APOA1 APOA5 HMGCR
15 chylomicron assembly GO:0034378 9.87 APOA1 APOB APOC2 APOE
16 high-density lipoprotein particle clearance GO:0034384 9.86 APOA1 APOC2 APOE LDLR
17 triglyceride catabolic process GO:0019433 9.85 APOA1 APOA5 APOB APOE LIPC LPL
18 phospholipid transport GO:0015914 9.83 APOA1 CETP LDLR
19 chylomicron remnant clearance GO:0034382 9.83 APOB APOC2 APOE LDLR LIPC
20 positive regulation of lipid biosynthetic process GO:0046889 9.81 APOA1 APOA5 APOE
21 high-density lipoprotein particle assembly GO:0034380 9.81 APOA1 APOA5 APOE
22 cholesterol homeostasis GO:0042632 9.81 APOA1 APOA5 APOB APOC2 APOE CETP
23 positive regulation of cholesterol esterification GO:0010873 9.8 APOA1 APOA5 APOE
24 chylomicron remodeling GO:0034371 9.8 APOA1 APOB APOC2 APOE LPL
25 regulation of cholesterol transport GO:0032374 9.79 APOA1 APOA5 APOE
26 lipoprotein biosynthetic process GO:0042158 9.78 APOA1 APOB APOE
27 lipoprotein catabolic process GO:0042159 9.77 APOB APOE LDLR
28 reverse cholesterol transport GO:0043691 9.73 APOA1 APOA5 APOC2 APOE CETP LIPC
29 regulation of cholesterol biosynthetic process GO:0045540 9.72 APOB HMGCR
30 long-term memory GO:0007616 9.72 APOE LDLR
31 lipoprotein transport GO:0042953 9.72 APOB APOC2
32 low-density lipoprotein particle clearance GO:0034383 9.71 APOB LDLR
33 artery morphogenesis GO:0048844 9.71 APOB APOE
34 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.71 APOB LPL
35 positive regulation of fatty acid biosynthetic process GO:0045723 9.71 APOA5 APOC2
36 regulation of cholesterol metabolic process GO:0090181 9.7 APOE LDLR
37 phosphatidylcholine metabolic process GO:0046470 9.7 APOA5 CETP
38 regulation of protein metabolic process GO:0051246 9.7 APOE LDLR
39 phospholipid homeostasis GO:0055091 9.69 APOA1 CETP
40 positive regulation of lipoprotein lipase activity GO:0051006 9.69 APOA5 APOC2
41 regulation of lipoprotein lipase activity GO:0051004 9.69 LIPC LPL
42 positive regulation of cholesterol storage GO:0010886 9.68 APOB LPL
43 positive regulation of triglyceride catabolic process GO:0010898 9.68 APOA5 APOC2
44 regulation of Cdc42 protein signal transduction GO:0032489 9.68 APOA1 APOE
45 cholesterol import GO:0070508 9.68 APOA1 LDLR
46 very-low-density lipoprotein particle clearance GO:0034447 9.67 APOB APOE
47 regulation of intestinal cholesterol absorption GO:0030300 9.66 APOA1 APOA5
48 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.65 APOA5 APOC2
49 positive regulation of very-low-density lipoprotein particle remodeling GO:0010902 9.65 APOA5 APOC2
50 response to caloric restriction GO:0061771 9.65 APOE LDLR

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 9.76 APOA1 APOA5 APOB APOE
2 amyloid-beta binding GO:0001540 9.72 APOA1 APOE LDLR
3 lipid binding GO:0008289 9.72 APOA1 APOA5 APOC2 APOE CETP
4 cholesterol binding GO:0015485 9.67 APOA1 APOA5 APOE CETP
5 low-density lipoprotein particle receptor binding GO:0050750 9.61 APOA5 APOB APOE
6 phosphatidylcholine binding GO:0031210 9.59 APOA5 CETP
7 triglyceride lipase activity GO:0004806 9.58 LIPC LPL
8 phospholipid transporter activity GO:0005548 9.58 APOA1 CETP
9 apolipoprotein binding GO:0034185 9.58 LIPC LPA LPL
10 low-density lipoprotein particle binding GO:0030169 9.57 LDLR LIPC
11 phospholipase activity GO:0004620 9.56 LIPC LPL
12 lipase binding GO:0035473 9.54 APOA5 APOB
13 lipase inhibitor activity GO:0055102 9.52 APOA1 APOC2
14 lipoprotein particle binding GO:0071813 9.51 APOA1 APOE
15 lipoprotein lipase activator activity GO:0060230 9.49 APOA5 APOC2
16 triglyceride binding GO:0017129 9.48 CETP LPL
17 lipid transporter activity GO:0005319 9.46 APOA1 APOB APOE CETP
18 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.43 APOA1 APOA5 APOE
19 heparin binding GO:0008201 9.43 APOA5 APOB APOE LIPC LPA LPL
20 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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