MCID: DFC001
MIFTS: 32

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 53

Classifications:



Summaries for Defective Apolipoprotein B-100

MalaCards based summary : Defective Apolipoprotein B-100 is related to hypercholesterolemia, autosomal dominant, type b and familial lcat deficiency. 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 bone, heart and monocytes, and related phenotypes are Decreased free cholesterol and Increased 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 51)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, autosomal dominant, type b 33.5 APOB APOE LDLR
2 familial lcat deficiency 30.2 APOE LCAT
3 arteries, anomalies of 30.0 APOB APOE LDLR
4 myocardial infarction 29.9 APOB APOE HMGCR LDLR
5 hypercholesterolemia, familial 29.8 APOB APOE HMGCR LCAT LDLR PCSK9
6 coronary heart disease 1 29.4 APOB APOE HMGCR LCAT LDLR
7 xanthoma disseminatum 10.1 APOB APOE
8 huntington disease-like 1 10.1 APOB APOE
9 leukodystrophy, hypomyelinating, 3 10.1 APOB APOE
10 schnyder corneal dystrophy 10.1 APOB APOE
11 ischemic heart disease 10.1 APOB APOE
12 aortic atherosclerosis 10.1 APOE LDLR
13 hypertriglyceridemia, familial 10.1 APOB APOE
14 fetal macrosomia 10.1 APOB LCAT
15 coronary artery anomaly 10.1
16 heart disease 10.1
17 hypothyroidism 10.1
18 carotid artery disease 10.0 APOB APOE
19 sitosterolemia 10.0 APOB HMGCR
20 hemorrhage, intracerebral 10.0 APOE HMGCR
21 atherosclerosis susceptibility 10.0 APOB APOE LDLR
22 cerebrovascular disease 10.0 APOB APOE LDLR
23 hypobetalipoproteinemia, familial, 1 10.0 APOB PCSK9
24 hypoalphalipoproteinemia, primary 10.0 APOB LCAT LDLR
25 gallbladder disease 9.9 APOB APOE
26 hypobetalipoproteinemia, familial, 2 9.9 APOB PCSK9
27 hypolipoproteinemia 9.9 APOB APOE LCAT
28 tangier disease 9.9 APOB APOE LCAT
29 peripheral artery disease 9.9 APOB PCSK9
30 hypercholesterolemia, autosomal recessive 9.9 LDLR PCSK9
31 hyperlipoproteinemia, type v 9.9 APOB APOE HMGCR
32 arteriosclerosis 9.9 APOB APOE HMGCR
33 smith-lemli-opitz syndrome 9.9 APOE HMGCR LDLR
34 stroke, ischemic 9.9 APOB APOE HMGCR
35 inherited metabolic disorder 9.8 APOB PCSK9
36 coronary stenosis 9.8 APOB APOE PCSK9
37 lipoprotein glomerulopathy 9.8 APOB APOE LCAT LDLR
38 hyperalphalipoproteinemia 1 9.8 APOB APOE LCAT LDLR
39 lecithin:cholesterol acyltransferase deficiency 9.8 APOB APOE LCAT LDLR
40 abetalipoproteinemia 9.8 APOB APOE LCAT LDLR
41 xanthomatosis 9.8 APOB APOE HMGCR LDLR
42 hyperlipoproteinemia, type iii 9.8 APOB APOE HMGCR LDLR
43 vascular disease 9.7 APOB APOE HMGCR LDLR
44 kidney disease 9.7 APOE HMGCR LCAT
45 body mass index quantitative trait locus 11 9.7 APOB APOE LDLR
46 diabetes mellitus, noninsulin-dependent 9.7 APOB APOE HMGCR LCAT
47 familial hyperlipidemia 9.6 APOB APOE HMGCR LCAT LDLR
48 lipid metabolism disorder 9.6 APOB APOE HMGCR LCAT LDLR
49 sea-blue histiocyte disease 9.5 APOB APOE LCAT LDLR PCSK9
50 arcus corneae 9.5 APOB APOE LCAT LDLR PCSK9

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 9.35 APOB APOE HMGCR LDLR PCSK9
2 Increased LDL uptake GR00340-A-1 8.62 APOE LDLR

MGI Mouse Phenotypes related to Defective Apolipoprotein B-100:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 APOB APOE HMGCR LCAT LDLR PCSK9
2 liver/biliary system MP:0005370 9.63 APOB APOE HMGCR LCAT LDLR PCSK9
3 pigmentation MP:0001186 9.13 APOB APOE LDLR
4 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:

41
Bone, Heart, Monocytes, Kidney

Publications for Defective Apolipoprotein B-100

Articles related to Defective Apolipoprotein B-100:

(show top 50) (show all 93)
# Title Authors Year
1
PCSK9 inhibitor therapy in homozygous familial defective apolipoprotein B-100 due to APOB R3500Q: A case report. ( 28988723 )
2017
2
Familial defective apolipoprotein B-100: AA review. ( 27919345 )
2016
3
Familial defective apolipoprotein B-100: a tale of twin mutations. ( 27578140 )
2016
4
Decreased bone mineral density in subjects carrying familial defective apolipoprotein B-100. ( 24106285 )
2013
5
Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish. ( 21059979 )
2010
6
A double heterozygote for familial hypercholesterolaemia and familial defective apolipoprotein B-100. ( 20736250 )
2010
7
High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations. ( 18325181 )
2008
8
Familial defective apolipoprotein B-100 in Slovakia: are differences in prevalence of familial defective apolipoprotein B-100 explained by ethnicity? ( 17194460 )
2007
9
Lipid levels and their genetic regulation in patients with familial hypercholesterolemia and familial defective apolipoprotein B-100: the MEDPED Slovakia Project. ( 14615272 )
2003
10
A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100. ( 12957688 )
2003
11
Intima-media thickness and atherosclerotic plaques in familial defective apolipoprotein B-100 and familial hypercholesterolemia. ( 12079884 )
2002
12
Familial defective apolipoprotein B-100: a mutation emerged in the Mesolithic period. ( 11500199 )
2001
13
Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia. ( 11238294 )
2001
14
Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene. ( 11781700 )
2001
15
Familial defective apolipoprotein B-100: a mutation emerged in the mesolithic ancestors of Celtic peoples? ( 10657582 )
2000
16
Familial defective apolipoprotein B-100: detection and haplotype analysis of the Arg(3500)-->Gln mutation in hyperlipidemic Chinese. ( 10998466 )
2000
17
Flow cytometric assessment of LDL ligand function for detection of heterozygous familial defective apolipoprotein B-100. ( 10657378 )
2000
18
Familial defective apolipoprotein B-100: a lesson from homozygous and heterozygous patients. ( 10984082 )
2000
19
Familial defective apolipoprotein B-100 homozygote with premature coronary atherosclerosis. A case report. ( 10447794 )
1999
20
Familial defective apolipoprotein B-100 (R3500Q) in Northern Ireland. ( 10795369 )
1999
21
VLDL and IDL apolipoprotein B-100 kinetics in familial hypercholesterolemia due to impaired LDL receptor function or to defective apolipoprotein B-100. ( 9507998 )
1998
22
Familial defective apolipoprotein B-100. ( 9777289 )
1998
23
Homozygous familial defective apolipoprotein B-100. Enhanced removal of apolipoprotein E-containing VLDLs and decreased production of LDLs. ( 9081691 )
1997
24
Detecting familial defective apolipoprotein B-100: three molecular scanning methods compared. ( 9299944 )
1997
25
Familial defective apolipoprotein B-100 in hypercholesterolemic Chinese Canadians: identification of a unique haplotype of the apolipoprotein B-100 allele. ( 9430367 )
1997
26
Familial ligand-defective apolipoprotein B-100: simultaneous detection of the Arg3500-->Gln and Arg3531-->Cys mutations in a French population. ( 9259199 )
1997
27
Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK. ( 9105560 )
1997
28
Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia. ( 9157944 )
1997
29
Denaturing gradient-gel electrophoresis screening of familial defective apolipoprotein B-100 in a mixed Asian cohort: two cases of arginine3500-->tryptophan mutation associated with a unique haplotype. ( 9191540 )
1997
30
Increased clearance of low density lipoprotein precursors in patients with heterozygous familial defective apolipoprotein B-100: a stable isotope approach. ( 8906585 )
1996
31
Screening and identification of familial defective apolipoprotein B-100 in clinical samples by capillary gel electrophoresis. ( 8843667 )
1996
32
Familial defective apolipoprotein B-100 (FDB): effect of simvastatin therapy on LDL-receptor binding. ( 8831932 )
1996
33
Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100. ( 8723684 )
1996
34
Familial hypercholesterolemia and familial defective apolipoprotein B-100: comparison of the phenotypic expression In 116 cases. ( 9360938 )
1996
35
Familial defective apolipoprotein B-100: a study of patients from lipid clinics in Scotland and Wales. ( 8888978 )
1996
36
Hypercholesterolaemia presenting in a patient with familial defective apolipoprotein B-100 and hypothyroidism. ( 7785956 )
1995
37
Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia. ( 7583549 )
1995
38
Absence of familial defective apolipoprotein B-100 in Japanese patients with familial hypercholesterolaemia. ( 7760626 )
1995
39
Rare and common mutations in hyperlipidemia and atherosclerosis. With special reference to familial defective apolipoprotein B-100. ( 7652481 )
1995
40
Familial defective apolipoprotein B-100 and myocardial infarction. The ECTIM study. Etude Cas-TAcmoins de l'Infarctus du Myocarde. ( 7575782 )
1995
41
The affinity of low-density lipoproteins and of very-low-density lipoprotein remnants for the low-density lipoprotein receptor in homozygous familial defective apolipoprotein B-100. ( 7661885 )
1995
42
Isolation of allele-specific, receptor-binding-defective low density lipoproteins from familial defective apolipoprotein B-100 subjects. ( 7989871 )
1994
43
Detection of familial defective apolipoprotein B-100 among patients clinically diagnosed with heterozygous familial hypercholesterolemia in maritime Canada. ( 8001287 )
1994
44
Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics. ( 7718024 )
1994
45
Characteristics of 46 heterozygous carriers and 57 unaffected relatives in five Danish families with familial defective apolipoprotein B-100. ( 8305410 )
1994
46
Detection of two point mutations causing familial defective apolipoprotein B-100 by heteroduplex analysis. ( 7700273 )
1994
47
Decreased binding of apolipoprotein (a) to familial defective apolipoprotein B-100 (Arg3500-->Gln). A study of the assembly of recombinant apolipoprotein (a) with mutant low density lipoproteins. ( 7982944 )
1994
48
Screening for familial defective apolipoprotein B-100 with improved U937 monocyte proliferation assay. ( 8131274 )
1994
49
Identification of defective binding of low density lipoprotein by the U937 proliferation assay in German patients with familial defective apolipoprotein B-100. ( 8187806 )
1994
50
Decreased resistance against in vitro oxidation of LDL from patients with familial defective apolipoprotein B-100. ( 8123657 )
1994

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 APOB APOE HMGCR LCAT LDLR PCSK9
2
Show member pathways
12.24 APOB APOE LDLR
3
Show member pathways
11.89 APOB APOE LCAT LDLR PCSK9
4
Show member pathways
11.88 APOB APOE LDLR
5
Show member pathways
11.83 APOB APOE LDLR
6 11.36 HMGCR LDLR
7 11.33 HMGCR LDLR
8
Show member pathways
11.17 APOB APOE HMGCR LCAT LDLR PCSK9
9 10.91 APOE LDLR
10 10.54 HMGCR LDLR
11
Show member pathways
9.93 LDLR PCSK9

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 9.85 APOB APOE HMGCR LDAH PCSK9
2 endoplasmic reticulum lumen GO:0005788 9.69 APOB APOE PCSK9
3 early endosome GO:0005769 9.56 APOB APOE LDLR PCSK9
4 high-density lipoprotein particle GO:0034364 9.49 APOE LCAT
5 very-low-density lipoprotein particle GO:0034361 9.48 APOB APOE
6 endocytic vesicle lumen GO:0071682 9.43 APOB APOE
7 chylomicron GO:0042627 9.4 APOB APOE
8 endolysosome membrane GO:0036020 9.37 LDLR PCSK9
9 intermediate-density lipoprotein particle GO:0034363 9.32 APOB APOE
10 PCSK9-LDLR complex GO:1990666 9.16 LDLR PCSK9
11 clathrin-coated endocytic vesicle membrane GO:0030669 9.13 APOB APOE LDLR
12 low-density lipoprotein particle GO:0034362 8.8 APOB APOE LDLR

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 APOB APOE PCSK9
2 cellular protein metabolic process GO:0044267 9.81 APOB APOE PCSK9
3 receptor-mediated endocytosis GO:0006898 9.8 APOB APOE LDLR
4 lipid transport GO:0006869 9.76 APOB APOE LDLR
5 lipid metabolic process GO:0006629 9.7 APOB APOE HMGCR LCAT LDAH LDLR
6 phospholipid metabolic process GO:0006644 9.67 LCAT PCSK9
7 retinoid metabolic process GO:0001523 9.67 APOB APOE
8 cholesterol biosynthetic process GO:0006695 9.66 APOE HMGCR
9 negative regulation of MAP kinase activity GO:0043407 9.66 APOE HMGCR
10 triglyceride metabolic process GO:0006641 9.65 APOE PCSK9
11 regulation of cholesterol biosynthetic process GO:0045540 9.65 APOB HMGCR
12 long-term memory GO:0007616 9.65 APOE LDLR
13 cholesterol transport GO:0030301 9.65 APOB LCAT LDLR
14 cholesterol homeostasis GO:0042632 9.65 APOB APOE LCAT LDLR PCSK9
15 triglyceride catabolic process GO:0019433 9.64 APOB APOE
16 positive regulation of endocytosis GO:0045807 9.63 APOE LDLR
17 cholesterol efflux GO:0033344 9.63 APOB APOE
18 low-density lipoprotein particle clearance GO:0034383 9.63 APOB LDLR PCSK9
19 artery morphogenesis GO:0048844 9.62 APOB APOE
20 lipoprotein metabolic process GO:0042157 9.62 APOB APOE LDLR PCSK9
21 reverse cholesterol transport GO:0043691 9.61 APOE LCAT
22 high-density lipoprotein particle remodeling GO:0034375 9.61 APOE LCAT
23 chylomicron remnant clearance GO:0034382 9.61 APOB APOE LDLR
24 low-density lipoprotein particle remodeling GO:0034374 9.6 APOB APOE
25 regulation of cholesterol metabolic process GO:0090181 9.59 APOE LDLR
26 regulation of protein metabolic process GO:0051246 9.58 APOE LDLR
27 lipoprotein biosynthetic process GO:0042158 9.58 APOB APOE LCAT
28 chylomicron assembly GO:0034378 9.57 APOB APOE
29 high-density lipoprotein particle clearance GO:0034384 9.56 APOE LDLR
30 very-low-density lipoprotein particle remodeling GO:0034372 9.55 APOE LCAT
31 chylomicron remodeling GO:0034371 9.54 APOB APOE
32 lipoprotein catabolic process GO:0042159 9.54 APOB APOE LDLR
33 very-low-density lipoprotein particle clearance GO:0034447 9.52 APOB APOE
34 positive regulation of low-density lipoprotein particle receptor catabolic process GO:0032805 9.51 APOE PCSK9
35 response to caloric restriction GO:0061771 9.49 APOE LDLR
36 steroid metabolic process GO:0008202 9.43 APOB APOE HMGCR LCAT LDLR PCSK9
37 cholesterol metabolic process GO:0008203 9.1 APOB APOE HMGCR LCAT LDLR PCSK9

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 APOE LDLR
2 lipid transporter activity GO:0005319 9.32 APOB APOE
3 cholesterol transporter activity GO:0017127 9.26 APOB APOE
4 low-density lipoprotein particle binding GO:0030169 9.16 LDLR PCSK9
5 very-low-density lipoprotein particle receptor binding GO:0070326 8.96 APOE PCSK9
6 low-density lipoprotein particle receptor binding GO:0050750 8.8 APOB APOE PCSK9

Sources for Defective Apolipoprotein B-100

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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