MCID: DFC001
MIFTS: 26

Defective Apolipoprotein B-100

Categories: Rare diseases

Aliases & Classifications for Defective Apolipoprotein B-100

MalaCards integrated aliases for Defective Apolipoprotein B-100:

Name: Defective Apolipoprotein B-100 52

Classifications:



Summaries for Defective Apolipoprotein B-100

MalaCards based summary : Defective Apolipoprotein B-100 is related to hypercholesterolemia, familial, 2 and hyperlipoproteinemia, type iii. An important gene associated with Defective Apolipoprotein B-100 is APOB (Apolipoprotein B), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include heart, bone and monocytes, and related phenotypes are Decreased free cholesterol and Decreased LDL uptake

Related Diseases for Defective Apolipoprotein B-100

Diseases related to Defective Apolipoprotein B-100 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial, 2 33.6 LDLR APOE APOB
2 hyperlipoproteinemia, type iii 30.2 LDLR APOE APOB
3 familial lcat deficiency 30.0 LCAT APOE
4 lecithin:cholesterol acyltransferase deficiency 29.7 LCAT APOE APOB
5 xanthomatosis 29.6 LDLR HMGCR APOE APOB
6 hypothyroidism 29.5 LDLR APOE APOB
7 hypercholesterolemia, familial, 1 29.4 PCSK9 LDLR LCAT HMGCR APOE APOB
8 coronary heart disease 1 29.3 LDLR LCAT HMGCR APOE APOB
9 arteriosclerosis 29.3 LDLR HMGCR APOE APOB
10 familial hypercholesterolemia 29.3 PCSK9 LDLR LCAT HMGCR APOE APOB
11 arcus corneae 29.2 PCSK9 LDLR LCAT APOB
12 familial hyperlipidemia 28.7 LDLR LCAT HMGCR APOE APOB
13 atherosclerosis susceptibility 28.6 PCSK9 LDLR LCAT HMGCR APOE APOB
14 cardiovascular system disease 28.1 PCSK9 LDLR LCAT HMGCR APOE APOB
15 vascular disease 28.1 PCSK9 LDLR LCAT HMGCR APOE APOB
16 myocardial infarction 28.1 PCSK9 LDLR LCAT HMGCR APOE APOB
17 hyperlipoproteinemia, type i 10.2 APOE APOB
18 xanthoma disseminatum 10.1 APOE APOB
19 arteries, anomalies of 10.1
20 lipoprotein quantitative trait locus 10.1
21 hyperlipoproteinemia, type iv 10.1 APOE APOB
22 generalized atherosclerosis 10.1 APOE APOB
23 familial lipoprotein lipase deficiency 10.1 APOE APOB
24 hypobetalipoproteinemia, familial, 2 10.1 PCSK9 APOB
25 platelet glycoprotein iv deficiency 10.0 APOE APOB
26 hypertriglyceridemia, familial 10.0 APOE APOB
27 cholesterol ester storage disease 10.0 LCAT APOB
28 hypobetalipoproteinemia, familial, 1 10.0 PCSK9 APOB
29 fetal macrosomia 9.9 LCAT APOB
30 intermediate coronary syndrome 9.9 PCSK9 APOB
31 hypercholesterolemia, familial, 4 9.9 PCSK9 LDLR
32 aortic atherosclerosis 9.8 LDLR APOE APOB
33 corneal degeneration 9.8 PCSK9 LDLR APOB
34 hyperlipoproteinemia, type v 9.8 HMGCR APOE APOB
35 carotid artery disease 9.8 APOE APOB
36 schnyder corneal dystrophy 9.8 HMGCR APOE APOB
37 cerebrovascular disease 9.7 LDLR APOE APOB
38 coronary stenosis 9.7 PCSK9 APOE APOB
39 peripheral artery disease 9.7 PCSK9 APOE APOB
40 smith-lemli-opitz syndrome 9.7 LDLR HMGCR APOE
41 hyperalphalipoproteinemia 1 9.7 LDLR LCAT APOB
42 huntington disease-like 1 9.7 LCAT APOE APOB
43 tangier disease 9.7 LCAT APOE APOB
44 hyperuricemia 9.6 APOE APOB
45 sea-blue histiocyte disease 9.6 PCSK9 LCAT APOE
46 peripheral vascular disease 9.6 LCAT HMGCR APOB
47 heart disease 9.5 LDLR HMGCR APOE APOB
48 lipoprotein glomerulopathy 9.4 LDLR LCAT APOE APOB
49 stroke, ischemic 9.4 LDLR HMGCR APOE APOB
50 hyperlipidemia, familial combined, 3 9.4 LDLR LCAT APOE APOB

Graphical network of the top 20 diseases related to Defective Apolipoprotein B-100:



Diseases related to Defective Apolipoprotein B-100

Symptoms & Phenotypes for Defective Apolipoprotein B-100

GenomeRNAi Phenotypes related to Defective Apolipoprotein B-100 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.65 LDLR
2 Decreased LDL uptake GR00340-A-1 8.32 LDLR

MGI Mouse Phenotypes related to Defective Apolipoprotein B-100:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.43 APOB APOE HMGCR LCAT LDLR PCSK9
2 vision/eye MP:0005391 9.02 APOB APOE LCAT LDAH LDLR

Drugs & Therapeutics for Defective Apolipoprotein B-100

Search Clinical Trials , NIH Clinical Center for Defective Apolipoprotein B-100

Genetic Tests for Defective Apolipoprotein B-100

Anatomical Context for Defective Apolipoprotein B-100

MalaCards organs/tissues related to Defective Apolipoprotein B-100:

40
Heart, Bone, Monocytes

Publications for Defective Apolipoprotein B-100

Articles related to Defective Apolipoprotein B-100:

(show top 50) (show all 148)
# Title Authors PMID Year
1
PCSK9 inhibitor therapy in homozygous familial defective apolipoprotein B-100 due to APOB R3500Q: A case report. 61
28988723 2017
2
Familial defective apolipoprotein B-100: A review. 61
27919345 2016
3
Familial defective apolipoprotein B-100: a tale of twin mutations. 61
27578140 2016
4
Decreased bone mineral density in subjects carrying familial defective apolipoprotein B-100. 61
24106285 2013
5
Molecular description of familial defective APOB-100 in Malaysia. 61
23775634 2013
6
Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution. 61
21657943 2011
7
Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish. 61
21059979 2010
8
A double heterozygote for familial hypercholesterolaemia and familial defective apolipoprotein B-100. 61
20736250 2010
9
High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations. 61
18325181 2008
10
Familial defective apolipoprotein B-100 in Slovakia: are differences in prevalence of familial defective apolipoprotein B-100 explained by ethnicity? 61
17194460 2007
11
[Familial defective apolipoprotein B-100: FDB]. 61
17821903 2007
12
[A compound heterozygote family of familial hypercholesterolemia due to new mutations]. 61
17166445 2006
13
Monogenic hypercholesterolaemias--an evaluation of apolipoprotein B100 and LDL receptor gene polymorphisms. 61
16502360 2006
14
Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico. 61
16314194 2006
15
LDL-receptor mutations in Europe. 61
15523646 2004
16
Lipid levels and their genetic regulation in patients with familial hypercholesterolemia and familial defective apolipoprotein B-100: the MEDPED Slovakia Project. 61
14615272 2003
17
A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100. 61
12957688 2003
18
The apolipoprotein B R3500Q gene mutation in Spanish subjects with a clinical diagnosis of familial hypercholesterolemia. 61
12208478 2002
19
Influence of an asparagine to lysine mutation at amino acid 3516 of apolipoprotein B on low-density lipoprotein receptor binding. 61
12031600 2002
20
Intima-media thickness and atherosclerotic plaques in familial defective apolipoprotein B-100 and familial hypercholesterolemia. 61
12079884 2002
21
Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics. 61
11851376 2001
22
Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene. 61
11781700 2001
23
Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients. 61
11833852 2001
24
Familial defective apolipoprotein B-100: a mutation emerged in the Mesolithic period. 61
11500199 2001
25
Apolipoprotein B Arg3500Gln mutation prevalence in children with hypercholesterolemia: a French multicenter study. 61
11568510 2001
26
Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia. 61
11238294 2001
27
[Identification and characterization of the first Spanish familial ligand-defective apolipoprotein B homozygote]. 61
11222161 2001
28
Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig. 61
11139254 2001
29
Frequency of the R3500Q mutation of the apolipoprotein B-100 gene in a sample screened clinically for familial hypercholesterolemia in Hungary. 61
11137107 2001
30
[Familial hyperlipoproteinemias--correlations between phenotypes and genotypes]. 61
11262894 2000
31
Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia. 61
11040093 2000
32
Familial defective apolipoprotein B-100: detection and haplotype analysis of the Arg(3500)-->Gln mutation in hyperlipidemic Chinese. 61
10998466 2000
33
R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia. 61
11031227 2000
34
Flow cytometric assessment of LDL ligand function for detection of heterozygous familial defective apolipoprotein B-100. 61
10657378 2000
35
Familial defective apolipoprotein B-100: a mutation emerged in the mesolithic ancestors of Celtic peoples? 61
10657582 2000
36
Absence of Apo B R3500Q Mutation among Kelantanese Malays with Hyperlipidaemia. 61
22844210 2000
37
Familial defective apolipoprotein B-100: a lesson from homozygous and heterozygous patients. 61
10984082 2000
38
Effect of apolipoprotein E polymorphism and apolipoprotein A-1 gene promoter polymorphism on lipid parameters and premature coronary artery disease. 61
11055796 2000
39
Familial defective apolipoprotein B-100 homozygote with premature coronary atherosclerosis. A case report. 61
10447794 1999
40
Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry. 61
10422804 1999
41
Familial defective apolipoprotein B-100 (R3500Q) in Northern Ireland. 61
10795369 1999
42
Familial defective apolipoprotein B-100. 61
9777289 1998
43
Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolaemia. 61
9698020 1998
44
Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay. 61
9727746 1998
45
Angiotensin-converting enzyme DD genotype and cardiovascular disease in heterozygous familial hypercholesterolemia. 61
9603531 1998
46
Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease. 61
9603795 1998
47
[Incidence of familial defective apolipoprotein B-100 in cases of patients diagnosed with familial hypercholesterolemia]. 61
9578704 1998
48
VLDL and IDL apolipoprotein B-100 kinetics in familial hypercholesterolemia due to impaired LDL receptor function or to defective apolipoprotein B-100. 61
9507998 1998
49
[Familial defective apolipoprotein B-100]. 61
9645004 1998
50
Familial defective apolipoprotein B-100 in hypercholesterolemic Chinese Canadians: identification of a unique haplotype of the apolipoprotein B-100 allele. 61
9430367 1997

Variations for Defective Apolipoprotein B-100

Expression for Defective Apolipoprotein B-100

Search GEO for disease gene expression data for Defective Apolipoprotein B-100.

Pathways for Defective Apolipoprotein B-100

Pathways related to Defective Apolipoprotein B-100 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.59 PCSK9 LDLR LCAT HMGCR APOE APOB
2
Show member pathways
12.22 LDLR APOE APOB
3
Show member pathways
11.89 PCSK9 LDLR LCAT APOE APOB
4
Show member pathways
11.88 LDLR APOE APOB
5
Show member pathways
11.83 LDLR APOE APOB
6 11.34 LDLR HMGCR
7
Show member pathways
11.17 PCSK9 LDLR LCAT HMGCR APOE APOB
8 10.91 LDLR APOE
9 10.54 LDLR HMGCR
10
Show member pathways
9.93 PCSK9 LDLR

GO Terms for Defective Apolipoprotein B-100

Cellular components related to Defective Apolipoprotein B-100 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.89 PCSK9 LDAH HMGCR APOE APOB
2 endoplasmic reticulum lumen GO:0005788 9.69 PCSK9 APOE APOB
3 early endosome GO:0005769 9.62 PCSK9 LDLR APOE APOB
4 very-low-density lipoprotein particle GO:0034361 9.48 APOE APOB
5 endocytic vesicle lumen GO:0071682 9.46 APOE APOB
6 chylomicron GO:0042627 9.43 APOE APOB
7 endolysosome membrane GO:0036020 9.4 PCSK9 LDLR
8 intermediate-density lipoprotein particle GO:0034363 9.37 APOE APOB
9 clathrin-coated endocytic vesicle membrane GO:0030669 9.33 LDLR APOE APOB
10 PCSK9-LDLR complex GO:1990666 9.26 PCSK9 LDLR
11 high-density lipoprotein particle GO:0034364 9.13 LCAT APOE APOB
12 low-density lipoprotein particle GO:0034362 8.8 LDLR APOE APOB

Biological processes related to Defective Apolipoprotein B-100 according to GeneCards Suite gene sharing:

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.84 PCSK9 APOE APOB
2 cellular protein metabolic process GO:0044267 9.82 PCSK9 APOE APOB
3 receptor-mediated endocytosis GO:0006898 9.8 LDLR APOE APOB
4 lipid transport GO:0006869 9.77 LDLR APOE APOB
5 lipid metabolic process GO:0006629 9.7 PCSK9 LDLR LDAH LCAT HMGCR APOE
6 phospholipid metabolic process GO:0006644 9.67 PCSK9 LCAT
7 retinoid metabolic process GO:0001523 9.67 APOE APOB
8 artery morphogenesis GO:0048844 9.67 LDLR APOE APOB
9 intermembrane lipid transfer GO:0120009 9.66 APOE APOB
10 negative regulation of MAP kinase activity GO:0043407 9.66 HMGCR APOE
11 triglyceride metabolic process GO:0006641 9.65 PCSK9 APOE
12 regulation of cholesterol biosynthetic process GO:0045540 9.65 HMGCR APOB
13 long-term memory GO:0007616 9.65 LDLR APOE
14 low-density lipoprotein particle clearance GO:0034383 9.65 PCSK9 LDLR APOB
15 cholesterol homeostasis GO:0042632 9.65 PCSK9 LDLR LCAT APOE APOB
16 negative regulation of protein secretion GO:0050709 9.64 HMGCR APOE
17 cholesterol efflux GO:0033344 9.63 APOE APOB
18 reverse cholesterol transport GO:0043691 9.63 LCAT APOE
19 cholesterol transport GO:0030301 9.63 LDLR LCAT APOB
20 high-density lipoprotein particle remodeling GO:0034375 9.62 LCAT APOE
21 lipoprotein metabolic process GO:0042157 9.62 PCSK9 LDLR APOE APOB
22 regulation of cholesterol metabolic process GO:0090181 9.61 LDLR APOE
23 low-density lipoprotein particle remodeling GO:0034374 9.61 APOE APOB
24 chylomicron remnant clearance GO:0034382 9.61 LDLR APOE APOB
25 high-density lipoprotein particle clearance GO:0034384 9.59 LDLR APOE
26 regulation of protein metabolic process GO:0051246 9.58 LDLR APOE
27 chylomicron assembly GO:0034378 9.58 APOE APOB
28 lipoprotein biosynthetic process GO:0042158 9.58 LCAT APOE APOB
29 very-low-density lipoprotein particle remodeling GO:0034372 9.57 LCAT APOE
30 chylomicron remodeling GO:0034371 9.56 APOE APOB
31 very-low-density lipoprotein particle clearance GO:0034447 9.55 APOE APOB
32 negative regulation of amyloid fibril formation GO:1905907 9.54 LDLR APOE
33 lipoprotein catabolic process GO:0042159 9.54 LDLR APOE APOB
34 positive regulation of low-density lipoprotein particle receptor catabolic process GO:0032805 9.52 PCSK9 APOE
35 response to caloric restriction GO:0061771 9.51 LDLR APOE
36 steroid metabolic process GO:0008202 9.43 PCSK9 LDLR LCAT HMGCR APOE APOB
37 cholesterol metabolic process GO:0008203 9.1 PCSK9 LDLR LCAT HMGCR APOE APOB

Molecular functions related to Defective Apolipoprotein B-100 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 amyloid-beta binding GO:0001540 9.37 LDLR APOE
2 lipid transporter activity GO:0005319 9.32 APOE APOB
3 intermembrane cholesterol transfer activity GO:0120020 9.26 APOE APOB
4 low-density lipoprotein particle binding GO:0030169 9.16 PCSK9 LDLR
5 very-low-density lipoprotein particle receptor binding GO:0070326 8.96 PCSK9 APOE
6 low-density lipoprotein particle receptor binding GO:0050750 8.8 PCSK9 APOE APOB

Sources for Defective Apolipoprotein B-100

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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