MCID: DFC001
MIFTS: 31

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 of water-soluble vitamins and cofactors and Folate Metabolism. Affiliated tissues include monocytes, heart and bone, 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 all 46)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, autosomal dominant, type b 32.9 APOB APOE LDLR
2 familial lcat deficiency 29.5 APOE LCAT
3 arteries, anomalies of 29.5 APOB APOE LDLR
4 myocardial infarction 28.5 APOB APOE HMGCR LDLR
5 heart disease 28.3 APOB APOE HMGCR LDLR
6 hypercholesterolemia, familial 27.8 APOB APOE HMGCR LCAT LDLR
7 coronary heart disease 1 27.0 APOB APOE HMGCR LCAT LDLR
8 coronary artery anomaly 27.0 APOB APOE HMGCR LCAT LDLR
9 xanthoma disseminatum 10.3 APOB APOE
10 leukodystrophy, hypomyelinating, 3 10.2 APOB APOE
11 schnyder corneal dystrophy 10.2 APOB APOE
12 hyperlipidemia, familial combined 10.1 APOB APOE
13 hyperlipoproteinemia, type iv 10.1 APOB APOE
14 ischemic heart disease 10.1 APOB APOE
15 hypertriglyceridemia, familial 10.0 APOB LDLR
16 aortic atherosclerosis 10.0 APOE LDLR
17 hypothyroidism 9.9
18 myocarditis 9.9
19 coronary stenosis 9.8 APOB APOE
20 sitosterolemia 9.8 APOB HMGCR
21 hemorrhage, intracerebral 9.8 APOE HMGCR
22 sea-blue histiocyte disease 9.7 APOE LCAT
23 carotid artery disease 9.7 APOB APOE
24 atherosclerosis susceptibility 9.7 APOB APOE LDLR
25 cerebrovascular disease 9.7 APOB APOE LDLR
26 fetal macrosomia 9.7 APOB LCAT
27 arteriosclerosis 9.5 APOB APOE HMGCR
28 smith-lemli-opitz syndrome 9.5 APOE HMGCR LDLR
29 gallbladder disease 9.5 APOB APOE
30 stroke, ischemic 9.4 APOB APOE HMGCR
31 hypoalphalipoproteinemia, primary 9.4 APOB LCAT LDLR
32 hypolipoproteinemia 9.3 APOB APOE LCAT
33 abetalipoproteinemia 9.3 APOB APOE LCAT
34 tangier disease 9.3 APOB APOE LCAT
35 homozygous familial hypercholesterolemia 9.1 APOB APOE HMGCR LDLR
36 xanthomatosis 9.1 APOB APOE HMGCR LDLR
37 hyperlipoproteinemia, type iii 9.0 APOB APOE HMGCR LDLR
38 vascular disease 9.0 APOB APOE HMGCR LDLR
39 lipoprotein glomerulopathy 8.8 APOB APOE LCAT LDLR
40 hypobetalipoproteinemia, familial, 1 8.8 APOB APOE LCAT LDLR
41 arcus corneae 8.8 APOB APOE LCAT LDLR
42 hyperalphalipoproteinemia 1 8.8 APOB APOE LCAT LDLR
43 lecithin:cholesterol acyltransferase deficiency 8.8 APOB APOE LCAT LDLR
44 diabetes mellitus, noninsulin-dependent 8.5 APOB APOE HMGCR LCAT
45 familial hyperlipidemia 8.1 APOB APOE HMGCR LCAT LDLR
46 lipid metabolism disorder 8.1 APOB APOE HMGCR LCAT LDLR

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 9.26 APOB APOE HMGCR LDLR
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 liver/biliary system MP:0005370 9.55 APOB APOE HMGCR LCAT LDLR
2 pigmentation MP:0001186 9.13 LDLR APOB APOE
3 vision/eye MP:0005391 9.02 LDLR APOB APOE LCAT LDAH

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
Monocytes, Heart, Bone

Publications for Defective Apolipoprotein B-100

Articles related to Defective Apolipoprotein B-100:

(show top 50) (show all 92)
# 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
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
29
Increased clearance of low density lipoprotein precursors in patients with heterozygous familial defective apolipoprotein B-100: a stable isotope approach. ( 8906585 )
1996
30
Screening and identification of familial defective apolipoprotein B-100 in clinical samples by capillary gel electrophoresis. ( 8843667 )
1996
31
Familial defective apolipoprotein B-100 (FDB): effect of simvastatin therapy on LDL-receptor binding. ( 8831932 )
1996
32
Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100. ( 8723684 )
1996
33
Familial hypercholesterolemia and familial defective apolipoprotein B-100: comparison of the phenotypic expression In 116 cases. ( 9360938 )
1996
34
Familial defective apolipoprotein B-100: a study of patients from lipid clinics in Scotland and Wales. ( 8888978 )
1996
35
Hypercholesterolaemia presenting in a patient with familial defective apolipoprotein B-100 and hypothyroidism. ( 7785956 )
1995
36
Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia. ( 7583549 )
1995
37
Absence of familial defective apolipoprotein B-100 in Japanese patients with familial hypercholesterolaemia. ( 7760626 )
1995
38
Rare and common mutations in hyperlipidemia and atherosclerosis. With special reference to familial defective apolipoprotein B-100. ( 7652481 )
1995
39
Familial defective apolipoprotein B-100 and myocardial infarction. The ECTIM study. Etude Cas-TAcmoins de l'Infarctus du Myocarde. ( 7575782 )
1995
40
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
41
Isolation of allele-specific, receptor-binding-defective low density lipoproteins from familial defective apolipoprotein B-100 subjects. ( 7989871 )
1994
42
Detection of familial defective apolipoprotein B-100 among patients clinically diagnosed with heterozygous familial hypercholesterolemia in maritime Canada. ( 8001287 )
1994
43
Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics. ( 7718024 )
1994
44
Characteristics of 46 heterozygous carriers and 57 unaffected relatives in five Danish families with familial defective apolipoprotein B-100. ( 8305410 )
1994
45
Detection of two point mutations causing familial defective apolipoprotein B-100 by heteroduplex analysis. ( 7700273 )
1994
46
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
47
Screening for familial defective apolipoprotein B-100 with improved U937 monocyte proliferation assay. ( 8131274 )
1994
48
Identification of defective binding of low density lipoprotein by the U937 proliferation assay in German patients with familial defective apolipoprotein B-100. ( 8187806 )
1994
49
Decreased resistance against in vitro oxidation of LDL from patients with familial defective apolipoprotein B-100. ( 8123657 )
1994
50
Treatment of patients with familial defective apolipoprotein B-100 with pravastatin and gemfibrozil: a two-period cross-over study. ( 7711417 )
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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.19 APOB APOE LDLR
2
Show member pathways
11.83 APOB APOE LDLR
3
Show member pathways
11.79 APOB APOE LCAT LDLR
4
Show member pathways
11.76 APOB APOE LDLR
5
Show member pathways
11.49 APOB APOE
6 11.32 HMGCR LDLR
7 11.28 HMGCR LDLR
8
Show member pathways
11.09 APOB APOE HMGCR LCAT LDLR
9 10.87 APOE LDLR
10 10.43 HMGCR LDLR

GO Terms for Defective Apolipoprotein B-100

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.76 APOB APOE HMGCR LDAH
2 early endosome GO:0005769 9.61 APOB APOE LDLR
3 high-density lipoprotein particle GO:0034364 9.4 APOE LCAT
4 very-low-density lipoprotein particle GO:0034361 9.37 APOB APOE
5 endocytic vesicle lumen GO:0071682 9.32 APOB APOE
6 chylomicron GO:0042627 9.26 APOB APOE
7 intermediate-density lipoprotein particle GO:0034363 9.16 APOB APOE
8 clathrin-coated endocytic vesicle membrane GO:0030669 9.13 APOB APOE LDLR
9 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 31)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.77 APOB APOE LDLR
2 lipid metabolic process GO:0006629 9.73 APOB APOE HMGCR LCAT LDAH LDLR
3 lipid transport GO:0006869 9.72 APOB APOE LDLR
4 cholesterol homeostasis GO:0042632 9.71 APOB APOE LCAT LDLR
5 retinoid metabolic process GO:0001523 9.65 APOB APOE
6 cholesterol biosynthetic process GO:0006695 9.65 APOE HMGCR
7 negative regulation of MAP kinase activity GO:0043407 9.64 APOE HMGCR
8 long-term memory GO:0007616 9.64 APOE LDLR
9 regulation of cholesterol biosynthetic process GO:0045540 9.63 APOB HMGCR
10 triglyceride catabolic process GO:0019433 9.63 APOB APOE
11 cholesterol transport GO:0030301 9.63 APOB LCAT LDLR
12 cholesterol efflux GO:0033344 9.62 APOB APOE
13 low-density lipoprotein particle clearance GO:0034383 9.62 APOB LDLR
14 positive regulation of endocytosis GO:0045807 9.61 APOE LDLR
15 artery morphogenesis GO:0048844 9.61 APOB APOE
16 lipoprotein metabolic process GO:0042157 9.61 APOB APOE LDLR
17 reverse cholesterol transport GO:0043691 9.59 APOE LCAT
18 high-density lipoprotein particle remodeling GO:0034375 9.58 APOE LCAT
19 low-density lipoprotein particle remodeling GO:0034374 9.58 APOB APOE
20 regulation of protein metabolic process GO:0051246 9.57 APOE LDLR
21 regulation of cholesterol metabolic process GO:0090181 9.56 APOE LDLR
22 chylomicron assembly GO:0034378 9.54 APOB APOE
23 chylomicron remnant clearance GO:0034382 9.54 APOB APOE LDLR
24 very-low-density lipoprotein particle remodeling GO:0034372 9.52 APOE LCAT
25 chylomicron remodeling GO:0034371 9.51 APOB APOE
26 lipoprotein biosynthetic process GO:0042158 9.5 APOB APOE LCAT
27 very-low-density lipoprotein particle clearance GO:0034447 9.49 APOB APOE
28 response to caloric restriction GO:0061771 9.48 APOE LDLR
29 steroid metabolic process GO:0008202 9.35 APOB APOE HMGCR LCAT LDLR
30 lipoprotein catabolic process GO:0042159 9.33 APOB APOE LDLR
31 cholesterol metabolic process GO:0008203 9.02 APOB APOE HMGCR LCAT LDLR

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

# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 9.32 APOB APOE
2 amyloid-beta binding GO:0001540 9.26 APOE LDLR
3 lipid transporter activity GO:0005319 9.16 APOB APOE
4 low-density lipoprotein particle receptor binding GO:0050750 8.96 APOB APOE
5 cholesterol transporter activity GO:0017127 8.62 APOB APOE

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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