Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: HYP724
MIFTS: 58

Hyperlipoproteinemia, Type Iii

Categories: Genetic diseases, Metabolic diseases, Endocrine diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Hyperlipoproteinemia, Type Iii

About this section

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:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Inborn errors of metabolism
Rare endocrine diseases


Sources

Summaries for Hyperlipoproteinemia, Type Iii

About this section
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 v and hyperlipoproteinemia, type iv, and has symptoms including angina pectoris, chest pain 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, skin and liver, and related phenotypes are renal steatosis 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...

Sources

Related Diseases for Hyperlipoproteinemia, Type Iii

About this section

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 68)
# Related Disease Score Top Affiliating Genes
1 hyperlipoproteinemia, type v 32.3 APOA5 APOE LPL
2 hyperlipoproteinemia, type iv 30.6 APOA1 APOA5 APOB APOE LIPC LPL
3 arteries, anomalies of 28.3 APOA1 APOB APOE CETP COG2 LDLR
4 myocardial infarction 25.3 APOA1 APOA5 APOB APOE CETP COG2
5 coronary artery anomaly 25.2 APOA1 APOA5 APOB APOE CETP COG2
6 familial hyperlipidemia 25.1 APOA1 APOB APOE CETP COG2 HMGCR
7 coronary artery disease, autosomal dominant, 1 12.5
8 coronary artery disease, autosomal dominant 2 12.4
9 hyperlipidemia type 3 11.5
10 xanthoma disseminatum 10.7 APOB APOE
11 schnyder corneal dystrophy 10.7 APOB APOE
12 recurrent acute pancreatitis 10.6 APOE LPL
13 lipase deficiency, combined 10.6 LIPC LPL
14 hypercholesterolemia, autosomal dominant, type b 10.5 APOB APOE LDLR
15 cholesterol ester storage disease 10.4 APOB COG2
16 familial lcat deficiency 10.3 APOA1 APOE
17 cerebral atherosclerosis 10.3 APOA1 APOE
18 familial lipoprotein lipase deficiency 10.2 APOA5 LIPC LPL
19 lipoprotein glomerulopathy 10.2 APOB APOE LDLR LPA
20 dysbaric osteonecrosis 10.2 APOA1 APOB
21 amyloidosis aa 10.2 APOA1 LPA
22 macular degeneration, age-related, 1 10.1 APOB APOE LIPC
23 corneal dystrophy, posterior amorphous 10.1 COG2 MGAM
24 fetal macrosomia 10.1 APOA1 APOB
25 aortic atherosclerosis 10.0 APOE CETP LDLR LPA
26 vitamin e, familial isolated deficiency of 10.0 APOA1 APOB
27 prediabetes syndrome 10.0 APOB COG2
28 hyperlipidemia, combined, 1 10.0 APOA5 APOB LIPC LPL
29 peripheral vascular disease 10.0 APOA1 APOB LPA
30 chylomicron retention disease 10.0 APOA1 APOB
31 alzheimer disease 2 9.9 APOE CETP
32 angina pectoris 9.8
33 inherited metabolic disorder 9.8 APOA1 APOB COG2
34 leukodystrophy, hypomyelinating, 3 9.8 APOA1 APOB APOE LPA
35 smith-lemli-opitz syndrome 9.8 APOE HMGCR LDLR
36 hypobetalipoproteinemia, familial, 1 9.7 APOA1 APOB APOE LDLR
37 ischemic heart disease 9.7 APOA1 APOB APOE LPL
38 ischemia 9.7
39 cerebrovascular disease 9.7 APOA1 APOB APOE LDLR
40 hemorrhage, intracerebral 9.7 APOE HMGCR
41 hepatic lipase deficiency 9.7 APOA1 APOE LIPC LPL
42 coronary stenosis 9.6 APOA1 APOB APOE CETP
43 hypertension, essential 9.6 APOA1 APOB LPA LPL
44 gallbladder disease 9.6 APOA1 APOB APOE CETP
45 defective apolipoprotein b-100 9.5 APOB APOE HMGCR LDLR
46 hypolipoproteinemia 9.5 APOA1 APOB APOE LPA LPL
47 carotid artery disease 9.3 APOA1 APOB APOE COG2 LPA
48 abetalipoproteinemia 9.3 APOA1 APOB APOE CETP LPL
49 atherosclerosis susceptibility 9.0 APOA1 APOB APOE CETP LDLR LPA
50 tangier disease 9.0 APOA1 APOB APOE CETP LPA LPL

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



Diseases related to Hyperlipoproteinemia, Type Iii
Sources

Symptoms & Phenotypes for Hyperlipoproteinemia, Type Iii

About this section

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 renal steatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000799
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 corneal arcus 59 32 frequent (33%) Frequent (79-30%) HP:0001084
5 xanthelasma 59 32 frequent (33%) Frequent (79-30%) HP:0001114
6 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
7 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0001397
8 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
9 angina pectoris 59 32 occasional (7.5%) Occasional (29-5%) HP:0001681
10 acute pancreatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001735
11 gout 59 32 occasional (7.5%) Occasional (29-5%) HP:0001997
12 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002155
13 hypercholesterolemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003124
14 accelerated atherosclerosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004943
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 abnormality of the skin 59 Very frequent (99-80%)
18 atheromatosis 59 Frequent (79-30%)
19 hyperbetalipoproteinemia 59 Very frequent (99-80%)
20 hypoalphalipoproteinemia 59 Very frequent (99-80%)
21 peripheral arterial disease 59 Occasional (29-5%)
22 premature coronary artery disease 59 Occasional (29-5%)
23 premature peripheral vascular disease 59 Occasional (29-5%)
24 type iv atherosclerotic lesion 32 frequent (33%) HP:0002635
25 increased ldl cholesterol concentration 32 hallmark (90%) HP:0003141
26 decreased hdl cholesterol concentration 32 hallmark (90%) HP:0003233
27 peripheral arterial stenosis 32 occasional (7.5%) HP:0004950
28 premature coronary artery atherosclerosis 32 occasional (7.5%) HP:0005181

UMLS symptoms related to Hyperlipoproteinemia, Type Iii:


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

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 CETP HMGCR LDLR LIPC LPA LPL
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 COG2 HMGCR LDLR LIPC LPL MGAM
2 liver/biliary system MP:0005370 9.1 APOA1 APOB APOE HMGCR LDLR LPL
Sources

Drugs & Therapeutics for Hyperlipoproteinemia, Type Iii

About this section

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 Anticholesteremic Agents Phase 3
6 Antimetabolites Phase 3
7 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
8 Hypolipidemic Agents Phase 3
9 Lipid Regulating Agents Phase 3
10 Rosuvastatin Calcium Phase 3 147098-20-2
11 Atorvastatin Calcium Phase 3 134523-03-8

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Type III Dysbetalipoproteinemia Completed NCT00214604 Phase 3 Rosuvastatin;rosuvastatin;pravastatin
2 Study To Evaluate The Effect Of Torcetrapib/Atorvastatin In Subjects With A Genetic Cholesterol Disorder. Terminated NCT00145431 Phase 3 torcetrapib/atorvastatin;atorvastatin;fenofibrate
3 DARK STUDY "DysbetalipoproteinemiA and atheRoma Risk" Unknown status NCT01760265
4 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

Sources

Genetic Tests for Hyperlipoproteinemia, Type Iii

About this section

Genetic tests related to Hyperlipoproteinemia, Type Iii:

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

Anatomical Context for Hyperlipoproteinemia, Type Iii

About this section

MalaCards organs/tissues related to Hyperlipoproteinemia, Type Iii:

41
Heart, Skin, Liver
Sources

Publications for Hyperlipoproteinemia, Type Iii

About this section

Articles related to Hyperlipoproteinemia, Type Iii:

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

Variations for Hyperlipoproteinemia, Type Iii

About this section

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 23)
# 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.488G> A (p.Arg163His) single nucleotide variant Pathogenic rs121918397 GRCh37 Chromosome 19, 45412041: 45412041
21 APOE NM_000041.3(APOE): c.488G> A (p.Arg163His) single nucleotide variant Pathogenic rs121918397 GRCh38 Chromosome 19, 44908784: 44908784
22 APOE NM_000041.3(APOE): c.-83-203T= single nucleotide variant risk factor rs405509 GRCh37 Chromosome 19, 45408836: 45408836
23 APOE NM_000041.3(APOE): c.-83-203T= single nucleotide variant risk factor rs405509 GRCh38 Chromosome 19, 44905579: 44905579
Sources

Expression for Hyperlipoproteinemia, Type Iii

About this section
Search GEO for disease gene expression data for Hyperlipoproteinemia, Type Iii.
Sources

Pathways for Hyperlipoproteinemia, Type Iii

About this section

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.63 APOA1 APOA5 APOB APOE CETP HMGCR
2
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 12.33 APOA1 APOB APOE LDLR LPL
3
Lipoprotein metabolism 66
Show member pathways
 12.14 APOA1 APOA5 APOB APOE CETP LDLR
4
Folate Metabolism 1
Show member pathways
 12 APOA1 APOB APOE LDLR
5
Metabolism of fat-soluble vitamins 66
Show member pathways
 11.88 APOA1 APOB APOE LDLR LPL
6
Ca, cAMP and Lipid Signaling 4
11.76 APOA1 APOA5 APOE
7
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.65 APOA1 APOB APOE
8
Sterol Regulatory Element-Binding Proteins (SREBP) signalling 1
11.47 HMGCR LDLR LPL
9
PPAR signaling pathway 37
11.44 APOA1 APOA5 LPL
10
Statin Pathway 1
Show member pathways
 11.39 APOA1 APOA5 APOB APOE CETP HMGCR
11
A-beta Pathways: Uptake and Degradation 65
11.04 APOE LDLR
12
PPAR Alpha Pathway 1
10.94 APOA1 APOA5
13
Vitamin digestion and absorption 37
10.89 APOA1 APOB
14
SREBF and miR33 in cholesterol and lipid homeostasis 1
10.77 HMGCR LDLR
Sources

GO Terms for Hyperlipoproteinemia, Type Iii

About this section

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.83 APOA1 APOB APOE LDLR
2 endoplasmic reticulum lumen GO:0005788 9.83 APOA1 APOA5 APOB APOE LIPC
3 extracellular matrix GO:0031012 9.81 APOA1 APOE LPL TGM4
4 blood microparticle GO:0072562 9.72 APOA1 APOA5 APOE
5 high-density lipoprotein particle GO:0034364 9.65 APOA1 APOA5 APOE CETP LIPC
6 clathrin-coated endocytic vesicle membrane GO:0030669 9.63 APOB APOE LDLR
7 endocytic vesicle lumen GO:0071682 9.58 APOA1 APOB APOE
8 very-low-density lipoprotein particle GO:0034361 9.55 APOA1 APOA5 APOB APOE LPL
9 intermediate-density lipoprotein particle GO:0034363 9.5 APOA1 APOB APOE
10 discoidal high-density lipoprotein particle GO:0034365 9.49 APOA1 APOE
11 low-density lipoprotein particle GO:0034362 9.35 APOA1 APOA5 APOB APOE LDLR
12 chylomicron GO:0042627 9.02 APOA1 APOA5 APOB APOE LPL
13 extracellular exosome GO:0070062 10.14 APOA1 APOB APOE CETP LPL MGAM
14 extracellular region GO:0005576 10.13 APOA1 APOA5 APOB APOE CETP LIPC
15 extracellular space GO:0005615 10.02 APOA1 APOA5 APOB APOE CETP LDLR

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

(show top 50) (show all 54)
# Name GO ID Score Top Affiliating Genes
1 lipid transport GO:0006869 9.98 APOA1 APOA5 APOB APOE CETP LDLR
2 cellular protein metabolic process GO:0044267 9.97 APOA1 APOA5 APOB APOE
3 receptor-mediated endocytosis GO:0006898 9.96 APOA1 APOB APOE LDLR
4 retinoid metabolic process GO:0001523 9.92 APOA1 APOB APOE LPL
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 lipid catabolic process GO:0016042 9.88 APOB LIPC LPL
8 triglyceride metabolic process GO:0006641 9.88 APOA5 APOE CETP LPL
9 lipoprotein metabolic process GO:0042157 9.88 APOA1 APOA5 APOB APOE LDLR
10 regulation of lipid metabolic process GO:0019216 9.87 APOA1 APOA5 HMGCR
11 cholesterol metabolic process GO:0008203 9.87 APOA1 APOB APOE CETP HMGCR LDLR
12 cholesterol efflux GO:0033344 9.86 APOA1 APOA5 APOB APOE
13 high-density lipoprotein particle remodeling GO:0034375 9.85 APOA1 APOE CETP LIPC
14 phospholipid transport GO:0015914 9.83 APOA1 CETP LDLR
15 chylomicron remodeling GO:0034371 9.83 APOA1 APOB APOE LPL
16 positive regulation of lipid biosynthetic process GO:0046889 9.82 APOA1 APOA5 APOE
17 phosphatidylcholine metabolic process GO:0046470 9.81 APOA1 APOA5 CETP
18 high-density lipoprotein particle assembly GO:0034380 9.81 APOA1 APOA5 APOE
19 chylomicron remnant clearance GO:0034382 9.81 APOB APOE LDLR LIPC
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 positive regulation of cholesterol esterification GO:0010873 9.79 APOA1 APOA5 APOE
24 neuron projection regeneration GO:0031102 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 9.75 APOA1 APOB APOE
28 lipoprotein catabolic process GO:0042159 9.74 APOB APOE LDLR
29 triglyceride homeostasis GO:0070328 9.73 APOA1 APOA5 APOE CETP LIPC LPL
30 regulation of cholesterol biosynthetic process GO:0045540 9.72 APOB HMGCR
31 low-density lipoprotein particle clearance GO:0034383 9.71 APOB LDLR
32 positive regulation of endocytosis GO:0045807 9.71 APOE 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 9.7 APOA1 APOA5
36 regulation of protein metabolic process GO:0051246 9.7 APOE LDLR
37 regulation of cholesterol metabolic process GO:0090181 9.7 APOE LDLR
38 positive regulation of lipoprotein lipase activity GO:0051006 9.69 APOA1 APOA5
39 high-density lipoprotein particle clearance GO:0034384 9.69 APOA1 APOE
40 phospholipid homeostasis GO:0055091 9.68 APOA1 CETP
41 regulation of lipoprotein lipase activity GO:0051004 9.68 LIPC LPL
42 positive regulation of triglyceride catabolic process GO:0010898 9.68 APOA1 APOA5
43 regulation of Cdc42 protein signal transduction GO:0032489 9.68 APOA1 APOE
44 positive regulation of cholesterol storage GO:0010886 9.67 APOB LPL
45 cholesterol import GO:0070508 9.67 APOA1 LDLR
46 very-low-density lipoprotein particle clearance GO:0034447 9.66 APOB APOE
47 regulation of intestinal cholesterol absorption GO:0030300 9.65 APOA1 APOA5
48 response to caloric restriction GO:0061771 9.65 APOE LDLR
49 triglyceride catabolic process GO:0019433 9.63 APOA1 APOA5 APOB APOE LIPC LPL
50 cholesterol homeostasis GO:0042632 9.56 APOA1 APOA5 APOB APOE CETP 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 9.88 APOA1 APOA5 APOB APOE CETP
2 phospholipid binding GO:0005543 9.76 APOA1 APOA5 APOB APOE
3 amyloid-beta binding GO:0001540 9.69 APOA1 APOE LDLR
4 cholesterol binding GO:0015485 9.62 APOA1 APOA5 APOE CETP
5 phosphatidylcholine binding GO:0031210 9.61 APOA1 APOA5 CETP
6 triglyceride lipase activity GO:0004806 9.58 LIPC LPL
7 low-density lipoprotein particle receptor binding GO:0050750 9.58 APOA5 APOB APOE
8 phospholipid transporter activity GO:0005548 9.57 APOA1 CETP
9 low-density lipoprotein particle binding GO:0030169 9.56 LDLR LIPC
10 phospholipase activity GO:0004620 9.55 LIPC LPL
11 lipoprotein particle binding GO:0071813 9.54 APOA1 APOE
12 apolipoprotein binding GO:0034185 9.54 LIPC LPA LPL
13 lipase binding GO:0035473 9.52 APOA5 APOB
14 triglyceride binding GO:0017129 9.49 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

Sources for Hyperlipoproteinemia, Type Iii

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....