MCID: HYP288
MIFTS: 40

Hypercholesterolemia, Due to Ligand-Defective Apo B

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Hypercholesterolemia, Due to Ligand-Defective Apo B

MalaCards integrated aliases for Hypercholesterolemia, Due to Ligand-Defective Apo B:

Name: Hypercholesterolemia, Due to Ligand-Defective Apo B 54 13
Familial Ligand-Defective Apolipoprotein B-100 50 71
Familial Hypercholesterolemia Due to Ligand-Defective 50
Hypercholesterolemia, Autosomal Dominant, Type B 29
Autosomal Dominant Type B Hypercholesterolemia 50
Apolipoprotein B-100, Familial Defective 52
Familial Defective Apolipoprotein B-100 50
Hyperlipoproteinemia, Type 2 a 50
Hyperlipoproteinemia Type Iib 69
Fdb 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
hypercholesterolemia, due to ligand-defective apo b:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypercholesterolemia, Due to Ligand-Defective Apo B

UniProtKB/Swiss-Prot : 71 Familial ligand-defective apolipoprotein B-100: Dominantly inherited disorder of lipoprotein metabolism leading to hypercholesterolemia and increased proneness to coronary artery disease (CAD). The plasma cholesterol levels are dramatically elevated due to impaired clearance of LDL particles by defective APOB/E receptors.

MalaCards based summary : Hypercholesterolemia, Due to Ligand-Defective Apo B, also known as familial ligand-defective apolipoprotein b-100, is related to myocardial infarction and defective apolipoprotein b-100, and has symptoms including hypercholesterolemia, corneal arcus and xanthelasma. An important gene associated with Hypercholesterolemia, Due to Ligand-Defective Apo B is APOB (Apolipoprotein B), and among its related pathways/superpathways are Vesicle-mediated transport and Metabolism of water-soluble vitamins and cofactors. Related phenotypes are Decreased free cholesterol and Increased LDL uptake

Description from OMIM: 144010

Related Diseases for Hypercholesterolemia, Due to Ligand-Defective Apo B

Diseases in the Hypercholesterolemia, Familial family:

Hypercholesterolemia, Familial, Autosomal Recessive Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Due to Ligand-Defective Apo B Ldlrap1-Related Familial Hypercholesterolemia, Autosomal Recessive
Apob-Related Familial Hypercholesterolemia, Autosomal Dominant Ldlr-Related Familial Hypercholesterolemia, Autosomal Dominant
Pcsk9-Related Familial Hypercholesterolemia, Autosomal Dominant

Diseases related to Hypercholesterolemia, Due to Ligand-Defective Apo B via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
id Related Disease Score Top Affiliating Genes
1 myocardial infarction 28.8 APOB APOE LDLR
2 defective apolipoprotein b-100 10.9
3 atherosclerosis 10.1
4 xk aprosencephaly 10.1 APOB APOE
5 migraine with or without aura 1 10.0 APOB APOE
6 cataract, autosomal dominant congenital 4 10.0 APOB APOE
7 islet cell tumor 10.0 APOB APOE
8 bird fancier's lung 10.0 APOB APOE
9 chondrocalcinosis with early-onset osteoarthritis 10.0 APOB APOE
10 pontocerebellar hypoplasia 10.0 APOB APOE
11 melorheostosis 10.0 APOB APOE
12 glossopharyngeal nerve disease 9.9 APOB APOE
13 hyperlipidemia, familial combined 9.9 APOB APOE
14 coronary artery disease 9.9
15 artery disease 9.9
16 heart disease 9.9
17 hypothyroidism 9.9
18 myocarditis 9.9
19 wolfram syndrome 2 9.9 APOB APOE
20 obesity, hyperphagia, and developmental delay 9.9 APOB APOE
21 hyperchylomicronemia, late-onset 9.8 APOB APOE
22 arthritis 9.8 APOE LDLR
23 hemochromatosis, type 5 9.8 APOE LDLR
24 myelophthisic anemia 9.8 APOB APOE
25 stroke, ischemic 9.7 APOB APOE
26 hepatitis c virus 9.4 APOE LDLR
27 macular degeneration, age-related, 1 9.4 APOB APOE
28 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency 9.3 APOB APOE LDLR
29 mental retardation, autosomal dominant 45 9.3 APOB APOE LDLR
30 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 9.3 APOB APOE LDLR
31 hypobetalipoproteinemia 9.3 APOB APOE LDLR
32 alzheimer disease-2 9.3 APOB APOE LDLR
33 malignant fibrous histiocytoma of bone 9.3 APOB APOE LDLR
34 stone in bladder diverticulum 9.3 APOB APOE LDLR
35 fish-eye disease 9.3 APOB APOE LDLR
36 apolipoprotein c-iii deficiency 9.3 APOB APOE LDLR
37 acute apical periodontitis 9.3 APOB APOE LDLR
38 lissencephaly 6, with microcephaly 9.3 APOB APOE LDLR
39 skin squamous cell carcinoma 9.3 APOB APOE LDLR
40 malignant type ab thymoma 9.3 APOB APOE LDLR
41 codas syndrome 9.3 APOB APOE LDLR
42 peripheral artery disease 9.2 APOB APOE LDLR
43 autoimmune hepatitis 9.2 APOB APOE LDLR
44 pericarditis 9.2 APOB APOE LDLR
45 macular degeneration, age-related, 12 9.2 APOB APOE LDLR

Graphical network of the top 20 diseases related to Hypercholesterolemia, Due to Ligand-Defective Apo B:



Diseases related to Hypercholesterolemia, Due to Ligand-Defective Apo B

Symptoms & Phenotypes for Hypercholesterolemia, Due to Ligand-Defective Apo B

Symptoms via clinical synopsis from OMIM:

54

Lab:
abnormal ldl
hypercholesterolemia

Eyes:
xanthelasma
corneal arcus

Cardiac:
coronary artery disease

Skin:
planar xanthomas in homozygotes
tendinous xanthomas


Clinical features from OMIM:

144010

Human phenotypes related to Hypercholesterolemia, Due to Ligand-Defective Apo B:

32
id Description HPO Frequency HPO Source Accession
1 hypercholesterolemia 32 HP:0003124
2 corneal arcus 32 HP:0001084
3 xanthelasma 32 HP:0001114
4 coronary artery disease 32 HP:0001677

GenomeRNAi Phenotypes related to Hypercholesterolemia, Due to Ligand-Defective Apo B according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.13 APOB APOE LDLR
2 Increased LDL uptake GR00340-A-1 8.62 APOE LDLR

MGI Mouse Phenotypes related to Hypercholesterolemia, Due to Ligand-Defective Apo B:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.43 APOB APOE LDLR
2 muscle MP:0005369 9.33 LDLR APOB APOE
3 pigmentation MP:0001186 9.13 APOB APOE LDLR
4 vision/eye MP:0005391 8.8 APOB APOE LDLR

Drugs & Therapeutics for Hypercholesterolemia, Due to Ligand-Defective Apo B

Search Clinical Trials , NIH Clinical Center for Hypercholesterolemia, Due to Ligand-Defective Apo B

Genetic Tests for Hypercholesterolemia, Due to Ligand-Defective Apo B

Genetic tests related to Hypercholesterolemia, Due to Ligand-Defective Apo B:

id Genetic test Affiliating Genes
1 Hypercholesterolemia, Autosomal Dominant, Type B 29

Anatomical Context for Hypercholesterolemia, Due to Ligand-Defective Apo B

Publications for Hypercholesterolemia, Due to Ligand-Defective Apo B

Variations for Hypercholesterolemia, Due to Ligand-Defective Apo B

UniProtKB/Swiss-Prot genetic disease variations for Hypercholesterolemia, Due to Ligand-Defective Apo B:

71
id Symbol AA change Variation ID SNP ID
1 APOB p.Arg3527Gln VAR_005025 rs5742904
2 APOB p.Arg3558Cys VAR_005026 rs12713559

ClinVar genetic disease variations for Hypercholesterolemia, Due to Ligand-Defective Apo B:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 APOB NM_000384.2(APOB): c.10579C> T (p.Arg3527Trp) single nucleotide variant Pathogenic/Likely pathogenic rs144467873 GRCh37 Chromosome 2, 21229161: 21229161
2 APOB NM_000384.2(APOB): c.10187C> A (p.Ala3396Asp) single nucleotide variant Likely pathogenic rs730880052 GRCh37 Chromosome 2, 21229553: 21229553

Expression for Hypercholesterolemia, Due to Ligand-Defective Apo B

Search GEO for disease gene expression data for Hypercholesterolemia, Due to Ligand-Defective Apo B.

Pathways for Hypercholesterolemia, Due to Ligand-Defective Apo B

Pathways related to Hypercholesterolemia, Due to Ligand-Defective Apo B according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 APOB APOE LDLR
2
Show member pathways
12.04 APOB APOE LDLR
3
Show member pathways
11.87 APOB APOE LDLR
4
Show member pathways
11.81 APOB LDLR
5
Show member pathways
11.46 APOB APOE LDLR
6
Show member pathways
11.39 APOB APOE
7 10.87 APOE LDLR
8
Show member pathways
10.63 APOB APOE LDLR

GO Terms for Hypercholesterolemia, Due to Ligand-Defective Apo B

Cellular components related to Hypercholesterolemia, Due to Ligand-Defective Apo B according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.5 APOB APOE LDLR
2 endosome membrane GO:0010008 9.43 APOB LDLR
3 very-low-density lipoprotein particle GO:0034361 9.4 APOB APOE
4 endocytic vesicle lumen GO:0071682 9.37 APOB APOE
5 chylomicron GO:0042627 9.26 APOB APOE
6 intermediate-density lipoprotein particle GO:0034363 9.16 APOB APOE
7 clathrin-coated endocytic vesicle membrane GO:0030669 9.13 APOB APOE LDLR
8 low-density lipoprotein particle GO:0034362 8.8 APOB APOE LDLR

Biological processes related to Hypercholesterolemia, Due to Ligand-Defective Apo B according to GeneCards Suite gene sharing:

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.77 APOB APOE LDLR
2 receptor-mediated endocytosis GO:0006898 9.69 APOB APOE LDLR
3 membrane organization GO:0061024 9.61 APOB LDLR
4 cellular protein metabolic process GO:0044267 9.61 APOB APOE
5 retinoid metabolic process GO:0001523 9.6 APOB APOE
6 low-density lipoprotein particle clearance GO:0034383 9.58 APOB LDLR
7 triglyceride catabolic process GO:0019433 9.58 APOB APOE
8 lipid transport GO:0006869 9.58 APOB APOE LDLR
9 cholesterol transport GO:0030301 9.57 APOB LDLR
10 cholesterol efflux GO:0033344 9.56 APOB APOE
11 artery morphogenesis GO:0048844 9.55 APOB APOE
12 steroid metabolic process GO:0008202 9.54 APOB APOE LDLR
13 low-density lipoprotein particle remodeling GO:0034374 9.52 APOB APOE
14 cholesterol metabolic process GO:0008203 9.5 APOB APOE LDLR
15 chylomicron assembly GO:0034378 9.49 APOB APOE
16 chylomicron remodeling GO:0034371 9.48 APOB APOE
17 lipoprotein biosynthetic process GO:0042158 9.46 APOB APOE
18 very-low-density lipoprotein particle clearance GO:0034447 9.43 APOB APOE
19 cholesterol homeostasis GO:0042632 9.43 APOB APOE LDLR
20 lipoprotein metabolic process GO:0042157 9.33 APOB APOE LDLR
21 positive regulation of endocytosis GO:0045807 9.24 APOE
22 chylomicron remnant clearance GO:0034382 9.13 APOB APOE LDLR
23 lipoprotein catabolic process GO:0042159 8.8 APOB APOE LDLR

Molecular functions related to Hypercholesterolemia, Due to Ligand-Defective Apo B according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.37 APOB APOE
2 phospholipid binding GO:0005543 9.32 APOB APOE
3 lipid transporter activity GO:0005319 9.16 APOB APOE
4 beta-amyloid binding GO:0001540 8.96 APOE
5 low-density lipoprotein particle receptor binding GO:0050750 8.96 APOB APOE
6 cholesterol transporter activity GO:0017127 8.62 APOB APOE

Sources for Hypercholesterolemia, Due to Ligand-Defective Apo B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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