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CAD
MCID: HYP724
MIFTS: 63

Hyperlipoproteinemia, Type Iii (CAD)

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hyperlipoproteinemia, Type Iii

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MalaCards integrated aliases for Hyperlipoproteinemia, Type Iii:

Name: Hyperlipoproteinemia, Type Iii 58 38
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
Apolipoprotein E 13
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:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Endocrine diseases Liver diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Inborn errors of metabolism
Rare endocrine diseases


Sources

Summaries for Hyperlipoproteinemia, Type Iii

About this section
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 lipoprotein glomerulopathy 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 Evolocumab and Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and brain, 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 is a condition characterized by... more...

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Related Diseases for Hyperlipoproteinemia, Type Iii

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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 721)
# Related Disease Score Top Affiliating Genes
1 lipoprotein glomerulopathy 32.6 APOB APOE LDLR LPA
2 atherosclerosis susceptibility 32.1 APOA1 APOB APOE CETP LDLR LPA
3 hypercholesterolemia, autosomal dominant, type b 32.1 APOB APOE LDLR
4 hyperlipoproteinemia, type iv 31.9 APOA5 APOB APOC2 LPL
5 hypoalphalipoproteinemia, primary 31.7 APOA1 APOB CETP LDLR LIPC LPL
6 arteriosclerosis 31.4 APOA1 APOB APOE COG2 HMGCR LPA
7 peripheral vascular disease 31.2 APOA1 APOB LPA
8 tangier disease 31.2 APOA1 APOB APOE CETP LPA LPL
9 vascular disease 31.0 APOA1 APOB APOE CETP HMGCR LDLR
10 coronary stenosis 30.9 APOA1 APOB APOE CETP
11 hyperlipidemia, familial combined 30.9 APOA1 APOA5 APOB APOC2 COG2 LPA
12 coronary heart disease 1 30.7 APOA1 APOA5 APOB APOE CETP COG2
13 hyperlipoproteinemia, type v 30.7 APOA1 APOA5 APOB APOC2 APOE HMGCR
14 ischemic heart disease 30.7 APOA1 APOB APOE LPL
15 cerebrovascular disease 30.6 APOA1 APOB APOE LDLR
16 chronic kidney failure 30.6 APOB HMGCR LPA
17 hypertension, essential 30.6 APOA1 APOB LPA LPL
18 heart disease 30.5 APOA1 APOA5 APOB APOE LDLR LPL
19 hypobetalipoproteinemia, familial, 1 30.3 APOB COG2
20 aortic atherosclerosis 30.3 APOE CETP LDLR LPA
21 sea-blue histiocyte disease 30.3 APOB APOE LDLR
22 amyloidosis aa 30.2 APOA1 LPA
23 arteries, anomalies of 30.2 APOA1 APOB APOE CETP COG2 LDLR
24 macular degeneration, age-related, 1 30.2 APOB APOE CETP LIPC
25 recurrent acute pancreatitis 30.1 APOE LPL
26 stroke, ischemic 30.0 APOB APOE COG2 HMGCR LPA
27 carotid artery disease 29.9 APOA1 APOB APOE COG2 LPA
28 hepatic lipase deficiency 29.8 APOA1 APOE LIPC LPL
29 huntington disease-like 1 29.8 APOB APOE CETP LPA
30 smith-lemli-opitz syndrome 29.6 APOE HMGCR LDLR
31 alzheimer disease 2 29.6 APOE CETP
32 pancreatitis 29.6 APOA5 APOC2 LPL
33 apolipoprotein c-ii deficiency 29.6 APOC2 LPL
34 gallbladder disease 29.5 APOA1 APOB APOE CETP
35 coronary artery anomaly 29.5 APOA1 APOA5 APOB CETP COG2 HMGCR
36 hemorrhage, intracerebral 29.5 APOE HMGCR
37 defective apolipoprotein b-100 29.4 APOB APOE HMGCR LDLR
38 xanthomatosis 29.4 APOB APOE HMGCR LDLR LPA LPL
39 homozygous familial hypercholesterolemia 29.4 APOB APOE HMGCR LDLR LIPC
40 abetalipoproteinemia 29.1 APOA1 APOB APOE CETP LDLR LPL
41 hyperalphalipoproteinemia 1 29.1 APOA1 APOB APOE CETP LDLR LIPC
42 arcus corneae 28.9 APOA1 APOB APOE CETP COG2 LDLR
43 hypertriglyceridemia, familial 28.6 APOA1 APOA5 APOB APOC2 APOE CETP
44 myocardial infarction 28.5 APOA1 APOA5 APOB APOE CETP COG2
45 lecithin:cholesterol acyltransferase deficiency 28.5 APOA1 APOB APOC2 APOE CETP LDLR
46 diabetes mellitus, noninsulin-dependent 28.5 APOA1 APOB APOC2 APOE CETP COG2
47 diabetes mellitus 28.2 APOA1 APOA5 APOB COG2 HMGCR LIPC
48 body mass index quantitative trait locus 11 28.2 APOA1 APOA5 APOB APOE CETP COG2
49 familial hyperlipidemia 27.5 APOA1 APOB APOC2 APOE CETP COG2
50 lipid metabolism disorder 27.4 APOA1 APOA5 APOB APOE CETP COG2

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



Diseases related to Hyperlipoproteinemia, Type Iii
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Symptoms & Phenotypes for Hyperlipoproteinemia, Type Iii

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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
Sources

Drugs & Therapeutics for Hyperlipoproteinemia, Type Iii

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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 Hypolipidemic Agents Phase 4,Phase 3
3 Lipid Regulating Agents Phase 4,Phase 3
4 Antimetabolites Phase 4,Phase 3
5 Anticholesteremic Agents Phase 4,Phase 3
6 Antibodies, Monoclonal Phase 4
7 Immunologic Factors Phase 4
8 Antibodies Phase 4
9 Immunoglobulins Phase 4
10
Pravastatin Approved Phase 3 81093-37-0 54687
11
Fenofibrate Approved Phase 3 49562-28-9 3339
12
Atorvastatin Approved Phase 3 134523-00-5 60823
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

Sources

Genetic Tests for Hyperlipoproteinemia, Type Iii

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Genetic tests related to Hyperlipoproteinemia, Type Iii:

# Genetic test Affiliating Genes
1 Familial Type 3 Hyperlipoproteinemia 30 APOE
Sources

Anatomical Context for Hyperlipoproteinemia, Type Iii

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MalaCards organs/tissues related to Hyperlipoproteinemia, Type Iii:

42
Heart, Liver, Brain, Bone, Lung, Thyroid, Prostate
Sources

Publications for Hyperlipoproteinemia, Type Iii

About this section

Articles related to Hyperlipoproteinemia, Type Iii:

(show all 35)
# Title Authors Year
1
Case of familial hyperlipoproteinemia type III hypertriglyceridemia induced acute pancreatitis: Role for outpatient apheresis maintenance therapy. ( 29142480 )
2017
2
Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. ( 22962670 )
2012
3
Polymorphisms in the apolipoprotein A5 (APOA5) gene and type III hyperlipidemia. ( 16143024 )
2005
4
Influence of apolipoprotein E epsilon4 genotype on brain tissue integrity in relapsing-remitting multiple sclerosis. ( 15096402 )
2004
5
Type III hyperlipoproteinemia and spontaneous atherosclerosis in mice resulting from gene replacement of mouse Apoe with human Apoe*2. ( 9649566 )
1998
6
Characterization of a novel variant of apolipoprotein E, E2 Fukuoka (Arg-224 --> Gln) in a hyperlipidemic patient with xanthomatosis. ( 8664327 )
1996
7
Dominant expression of type III hyperlipoproteinemia. Pathophysiological insights derived from the structural and kinetic characteristics of ApoE-1 (Lys146-->Glu). ( 7635945 )
1995
8
Characterization of five new mutants in the carboxyl-terminal domain of human apolipoprotein E: no cosegregation with severe hyperlipidemia. ( 8488843 )
1993
9
[Apolipoprotein E phenotyping--useful in the study of hyperlipoproteinemia type III]. ( 8480294 )
1993
10
The functional characteristics of a human apolipoprotein E variant (cysteine at residue 142) may explain its association with dominant expression of type III hyperlipoproteinemia. ( 1730728 )
1992
11
Severe type III hyperlipoproteinemia associated with unusual apolipoprotein E1 phenotype and epsilon 1/'null' genotype. ( 1360898 )
1992
12
Apolipoprotein E1 Lys-146----Glu with type III hyperlipoproteinemia. ( 1356443 )
1992
13
Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene. ( 1361196 )
1992
14
Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia. ( 1674745 )
1991
15
Normolipemic dysbetalipoproteinemia and hyperlipoproteinemia type III in subjects homozygous for a rare genetic apolipoprotein E variant (apoE1). ( 1973700 )
1990
16
Identification and characterization of a new variant of apolipoprotein E (apo E-Kochi). ( 2101409 )
1990
17
Genetic heterogeneity in familial dysbetalipoproteinemia. The E2(lys146----gln) variant results in a dominant mode of inheritance. ( 2313204 )
1990
18
Type III hyperlipoproteinemia associated with apolipoprotein E phenotype E3/3. Structure and genetics of an apolipoprotein E3 variant. ( 2539388 )
1989
19
Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121-127. ( 2556398 )
1989
20
Genotyping and sequence analysis of apolipoprotein E isoforms. ( 3243553 )
1988
21
Apolipoprotein E2-Christchurch (136 Arg----Ser). New variant of human apolipoprotein E in a patient with type III hyperlipoproteinemia. ( 3038959 )
1987
22
The molecular basis of a familial apoE deficiency. An acceptor splice site mutation in the third intron of the deficient apoE gene. ( 3029073 )
1987
23
Apolipoprotein E3-Leiden. A new variant of human apolipoprotein E associated with familial type III hyperlipoproteinemia. ( 3721502 )
1986
24
Familial apolipoprotein E deficiency. ( 3771793 )
1986
25
Serum and interstitial fluid apolipoprotein E levels in the healthy and in hyperlipoproteinemia type III as studied by radioimmunoassay. ( 4042371 )
1985
26
Isolation and characterisation of a variant allele of the gene for human apolipoprotein E. ( 2992507 )
1985
27
Identical structural and receptor binding defects in apolipoprotein E2 in hypo-, normo-, and hypercholesterolemic dysbetalipoproteinemia. ( 6300187 )
1983
28
Atypical familial dysbetalipoproteinemia associated with apolipoprotein phenotype E3/3. ( 6860421 )
1983
29
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. ( 6313758 )
1983
30
Apolipoprotein E (role in lipoprotein metabolism and pathophysiology of hyperlipoproteinemia type III). ( 6283616 )
1982
31
Studies of familial type III hyperlipoproteinemia using as a genetic marker the apoE phenotype E2/2. ( 7175379 )
1982
32
Type III hyperlipoproteinemia associated with apolipoprotein E deficiency. ( 6795720 )
1981
33
Polymorphism of apolipoprotein E. II. Genetics of hyperlipoproteinemia type III. ( 215360 )
1979
34
Polymorphism of apolipoprotein E. I. Methodological aspects and diagnosis of hyperlipoproteinemia type III without ultracentrifugation. ( 215358 )
1978
35
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

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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
Sources

Expression for Hyperlipoproteinemia, Type Iii

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

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Metabolism 67
Show member pathways
 13.68 APOA1 APOA5 APOB APOC2 APOE CETP
2
Metabolism of water-soluble vitamins and cofactors 67
Show member pathways
 12.41 APOA1 APOB APOC2 APOE LDLR LPL
3
Lipoprotein metabolism 67
Show member pathways
 12.19 APOA1 APOA5 APOB APOC2 APOE CETP
4
Selenium Micronutrient Network 1
Show member pathways
 12 APOA1 APOB APOE LDLR
5
Metabolism of fat-soluble vitamins 67
Show member pathways
 11.96 APOA1 APOB APOC2 APOE LDLR LPL
6
Ca, cAMP and Lipid Signaling 4
11.76 APOA1 APOA5 APOE
7
Binding and Uptake of Ligands by Scavenger Receptors 67
Show member pathways
 11.65 APOA1 APOB APOE
8
PPAR signaling pathway 38
11.48 APOA1 APOA5 LPL
9
Sterol Regulatory Element-Binding Proteins (SREBP) signalling 1
11.44 HMGCR LDLR LPL
10
Statin Pathway 1
Show member pathways
 11.44 APOA1 APOA5 APOB APOC2 APOE CETP
11
A-beta Pathways: Uptake and Degradation 66
11.04 APOE LDLR
12
PPAR Alpha Pathway 1
10.94 APOA1 APOA5
13
Vitamin digestion and absorption 38
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

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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

Sources for Hyperlipoproteinemia, Type Iii

About this section
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
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
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