FCHL2
MCID: HYP837
MIFTS: 48

Hypercholesterolemia, Familial, 2 (FCHL2)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hypercholesterolemia, Familial, 2

MalaCards integrated aliases for Hypercholesterolemia, Familial, 2:

Name: Hypercholesterolemia, Familial, 2 57
Hypercholesterolemia, Autosomal Dominant, Type B 57 29 6 40
Familial Ligand-Defective Apolipoprotein B-100 53 74
Apolipoprotein B-100, Familial Defective 57 55
Hypercholesterolemia, Familial, Due to Ligand-Defective Apolipoprotein B 57
Familial Hypercholesterolemia Due to Ligand-Defective 53
Apolipoprotein B-100, Familial Ligand-Defective 57
Autosomal Dominant Type B Hypercholesterolemia 53
Familial Defective Apolipoprotein B-100 53
Hyperlipoproteinemia, Type 2 a 53
Fchl2 57
Fdb 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypercholesterolemia, familial, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Summaries for Hypercholesterolemia, Familial, 2

UniProtKB/Swiss-Prot : 74 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, Familial, 2, also known as hypercholesterolemia, autosomal dominant, type b, is related to defective apolipoprotein b-100 and coronary heart disease 1. An important gene associated with Hypercholesterolemia, Familial, 2 is APOB (Apolipoprotein B), and among its related pathways/superpathways are Vesicle-mediated transport and Metabolism of water-soluble vitamins and cofactors. The drugs Atorvastatin and Lipid Regulating Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are hypercholesterolemia and corneal arcus

More information from OMIM: 144010 PS143890

Related Diseases for Hypercholesterolemia, Familial, 2

Diseases in the Rare Hypercholesterolemia family:

Hypercholesterolemia, Familial, 1 Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Familial, 3 Hypercholesterolemia, Familial, 4
Familial Hypercholesterolemia

Diseases related to Hypercholesterolemia, Familial, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 defective apolipoprotein b-100 29.8 LDLR APOE APOB
2 coronary heart disease 1 29.7 LDLR APOE APOB
3 arteriosclerosis 29.7 APOE APOB
4 atherosclerosis susceptibility 29.5 LDLR APOE APOB
5 hyperlipoproteinemia, type iii 29.4 LDLR APOE APOB
6 xanthomatosis 29.3 LDLR APOE APOB
7 arcus corneae 29.0 LDLR APOE APOB
8 familial hyperlipidemia 29.0 LDLR APOE APOB
9 arteries, anomalies of 29.0 LDLR APOE APOB
10 vascular disease 29.0 LDLR APOE APOB
11 myocardial infarction 28.8 LDLR APOE APOB
12 hyperlipidemia, familial combined, 2 11.4
13 hypercholesterolemia, familial, 1 10.9
14 familial hypercholesterolemia 10.8
15 coronary artery anomaly 10.3
16 stomatitis 10.2
17 hypothyroidism 10.1
18 xanthoma disseminatum 10.0 APOE APOB
19 huntington disease-like 1 10.0 APOE APOB
20 leukodystrophy, hypomyelinating, 3 9.9 APOE APOB
21 hyperlipoproteinemia, type v 9.9 APOE APOB
22 schnyder corneal dystrophy 9.9 APOE APOB
23 hypolipoproteinemia 9.9 APOE APOB
24 hypertriglyceridemia, familial 9.9 APOE APOB
25 coronary stenosis 9.8 APOE APOB
26 carotid artery disease 9.8 APOE APOB
27 gallbladder disease 9.8 APOE APOB
28 aortic atherosclerosis 9.7 LDLR APOE
29 tangier disease 9.7 APOE APOB
30 smith-lemli-opitz syndrome 9.7 LDLR APOE
31 stroke, ischemic 9.7 APOE APOB
32 macular degeneration, age-related, 1 9.6 APOE APOB
33 lipoprotein glomerulopathy 9.3 LDLR APOE APOB
34 sea-blue histiocyte disease 9.3 LDLR APOE APOB
35 homozygous familial hypercholesterolemia 9.3 LDLR APOE APOB
36 hyperalphalipoproteinemia 1 9.3 LDLR APOE APOB
37 lecithin:cholesterol acyltransferase deficiency 9.2 LDLR APOE APOB
38 abetalipoproteinemia 9.2 LDLR APOE APOB
39 lipid metabolism disorder 9.2 LDLR APOE APOB
40 heart disease 9.2 LDLR APOE APOB
41 cerebrovascular disease 9.2 LDLR APOE APOB
42 hepatitis c virus 9.2 LDLR APOE
43 body mass index quantitative trait locus 11 9.1 LDLR APOE APOB

Graphical network of the top 20 diseases related to Hypercholesterolemia, Familial, 2:



Diseases related to Hypercholesterolemia, Familial, 2

Symptoms & Phenotypes for Hypercholesterolemia, Familial, 2

Human phenotypes related to Hypercholesterolemia, Familial, 2:

32
# 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 atherosclerosis 32 HP:0001677

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hypercholesterolemia
abnormal ldl

Cardiovascular Heart:
coronary artery disease

Head And Neck Eyes:
corneal arcus
xanthelasma

Skin Nails Hair Skin:
tendinous xanthomas
planar xanthomas (in homozygotes)

Clinical features from OMIM:

144010

GenomeRNAi Phenotypes related to Hypercholesterolemia, Familial, 2 according to GeneCards Suite gene sharing:

26
# 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, Familial, 2:

46
# 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 APOB APOE LDLR
3 pigmentation MP:0001186 9.13 APOB APOE LDLR
4 vision/eye MP:0005391 8.8 APOB APOE LDLR

Drugs & Therapeutics for Hypercholesterolemia, Familial, 2

Drugs for Hypercholesterolemia, Familial, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atorvastatin Approved Phase 2 134523-00-5 60823
2 Lipid Regulating Agents Phase 2
3 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
4 Hypolipidemic Agents Phase 2
5 Anticholesteremic Agents Phase 2
6 Antimetabolites Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Double-blind, Randomized, Placebo-controlled and Active-comparator-controlled Phase 2b Study to Evaluate Statin-associated Myalgia Incidence, Lipid Profile Effect, and Safety and Tolerability Associated With PPD10558 Versus Atorvastatin in Patients With Primary Hypercholesterolemia, Fredrickson IIa or IIb, Who Have Discontinued Two or More Prior Statin Therapies Due to Statin-associated Myalgia Completed NCT01279590 Phase 2 PPD10558;Atorvastatin;Placebo

Search NIH Clinical Center for Hypercholesterolemia, Familial, 2

Genetic Tests for Hypercholesterolemia, Familial, 2

Genetic tests related to Hypercholesterolemia, Familial, 2:

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

Anatomical Context for Hypercholesterolemia, Familial, 2

MalaCards organs/tissues related to Hypercholesterolemia, Familial, 2:

41
Heart

Publications for Hypercholesterolemia, Familial, 2

Articles related to Hypercholesterolemia, Familial, 2:

(show top 50) (show all 64)
# Title Authors PMID Year
1
Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity. 8 71
7883971 1995
2
Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. 8 71
3477815 1987
3
In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia. 8 71
3771801 1986
4
Accumulation of "small dense" low density lipoproteins (LDL) in a homozygous patients with familial defective apolipoprotein B-100 results from heterogenous interaction of LDL subfractions with the LDL receptor. 9 71
8254047 1993
5
Hypocholesterolaemic effects of lovastatin in familial defective apolipoprotein B-100. 9 8
1347103 1992
6
Familial defective apolipoprotein B-100: a common cause of primary hypercholesterolemia. 9 71
1600334 1992
7
Familial Hypercholesterolemia 71
24404629 2014
8
Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene. 71
11781700 2001
9
High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects. 71
11494965 2001
10
The molecular mechanism for the genetic disorder familial defective apolipoprotein B100. 71
11115503 2001
11
Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects. 71
10952765 2000
12
Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease. 71
9603795 1998
13
Estimation of the age of the ancestral arginine3500-->glutamine mutation in human apoB-100. 71
9339363 1997
14
Phenotypic variation in patients heterozygous for familial defective apolipoprotein B (FDB) in three European countries. 8
9108789 1997
15
Homozygous familial defective apolipoprotein B-100. Enhanced removal of apolipoprotein E-containing VLDLs and decreased production of LDLs. 71
9081691 1997
16
Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100. 71
8723684 1996
17
Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100. 71
8318509 1993
18
Absence of familial defective apolipoprotein B-100 in Israeli patients with dominantly inherited hypercholesterolemia and in offspring with parental history of myocardial infarction. 71
8478017 1993
19
Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: further support for a unique European ancestral mutation. 71
8318993 1993
20
Screening for the apolipoprotein B-100 arginine3500-->glutamine mutation in patients with type III hyperlipoproteinemia. 71
1493642 1992
21
Familial defective apolipoprotein B-100: mild hypercholesterolaemia without atherosclerosis in a homozygous patient. 71
1360085 1992
22
Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease. 71
1466657 1992
23
Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100. 71
1977310 1990
24
Absence of familial defective apolipoprotein B-100 in Finnish patients with elevated serum cholesterol. 71
2375782 1990
25
Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. 71
2563166 1989
26
Familial defective apolipoprotein B-100: enhanced binding of monoclonal antibody MB47 to abnormal low density lipoproteins. 8
3200853 1988
27
The metabolism in vivo and in vitro of plasma low-density lipoprotein from a subject with inherited hypercholesterolaemia. 8
186227 1976
28
A new type of familial hypercholesterolaemia. 8
52771 1975
29
Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia. 8
4368448 1974
30
R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia. 9 38
11031227 2000
31
Molecular description of familial defective APOB-100 in Malaysia. 38
23775634 2013
32
High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations. 38
18325181 2008
33
Monogenic hypercholesterolaemias--an evaluation of apolipoprotein B100 and LDL receptor gene polymorphisms. 9
16502360 2006
34
Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico. 9
16314194 2006
35
Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics. 9
11851376 2001
36
[Identification and characterization of the first Spanish familial ligand-defective apolipoprotein B homozygote]. 38
11222161 2001
37
[Familial hyperlipoproteinemias--correlations between phenotypes and genotypes]. 9
11262894 2000
38
Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia. 9
11040093 2000
39
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. 9
9727746 1998
40
Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK. 38
9105560 1997
41
Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French population. 38
9259199 1997
42
Increased clearance of low density lipoprotein precursors in patients with heterozygous familial defective apolipoprotein B-100: a stable isotope approach. 9
8906585 1996
43
Familial hypercholesterolemia and familial defective apolipoprotein B-100: comparison of the phenotypic expression In 116 cases. 9
9360938 1996
44
[DNA analysis in heterozygotes in familial hypercholesterolemia]. 9
7758080 1995
45
[Detection of the Arg 3500-->Gln mutation of B apolipoprotein. Value in clinical practice]. 9
7784416 1995
46
Isolation of allele-specific, receptor-binding-defective low density lipoproteins from familial defective apolipoprotein B-100 subjects. 9
7989871 1994
47
Detection of familial defective apolipoprotein B-100 among patients clinically diagnosed with heterozygous familial hypercholesterolemia in maritime Canada. 9
8001287 1994
48
High prevalence of familial defective apolipoprotein B-100 in Switzerland. 9
8006512 1994
49
Identification of defective binding of low density lipoprotein by the U937 proliferation assay in German patients with familial defective apolipoprotein B-100. 9
8187806 1994
50
Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia. 9
8215738 1993

Variations for Hypercholesterolemia, Familial, 2

ClinVar genetic disease variations for Hypercholesterolemia, Familial, 2:

6 (show top 50) (show all 335)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 APOB NM_000384.3(APOB): c.409G> T (p.Glu137Ter) single nucleotide variant Pathogenic rs766243954 2:21260958-21260958 2:21038086-21038086
2 APOB NC_000002.11: g.(?_21224582)_(21258600_?)del deletion Pathogenic 2:21224582-21258600 2:21001710-21035728
3 APOB NM_000384.3(APOB): c.9110_9114TTTTC[1] (p.Phe3039fs) short repeat Pathogenic rs1215189537 2:21230621-21230625 2:21007749-21007753
4 APOB NM_000384.3(APOB): c.7605C> A (p.Tyr2535Ter) single nucleotide variant Pathogenic rs1553383473 2:21232135-21232135 2:21009263-21009263
5 APOB NM_000384.3(APOB): c.7537C> T (p.Arg2513Ter) single nucleotide variant Pathogenic rs146538280 2:21232203-21232203 2:21009331-21009331
6 APOB NM_000384.3(APOB): c.6543del (p.Phe2181fs) deletion Pathogenic 2:21233197-21233197 2:21010325-21010325
7 APOB NM_000384.3(APOB): c.4503T> G (p.Tyr1501Ter) single nucleotide variant Pathogenic 2:21235237-21235237 2:21012365-21012365
8 APOB NM_000384.3(APOB): c.671del (p.Pro224fs) deletion Pathogenic 2:21259994-21259994 2:21037124-21037124
9 APOB NM_000384.3(APOB): c.11789-1G> C single nucleotide variant Likely pathogenic 2:21227548-21227548 2:21004676-21004676
10 APOB NM_000384.3(APOB): c.10187C> A (p.Ala3396Asp) single nucleotide variant Likely pathogenic rs730880052 2:21229553-21229553 2:21006681-21006681
11 APOB NM_000384.3(APOB): c.10186G> A (p.Ala3396Thr) single nucleotide variant Likely pathogenic rs1553383017 2:21229554-21229554 2:21006682-21006682
12 APOB NM_000384.3(APOB): c.2968G> A (p.Ala990Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs139434026 2:21242626-21242626 2:21019754-21019754
13 APOB NM_000384.3(APOB): c.2863C> T (p.Pro955Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs13306206 2:21242731-21242731 2:21019859-21019859
14 APOB NM_000384.3(APOB): c.1199G> A (p.Arg400His) single nucleotide variant Conflicting interpretations of pathogenicity rs530171166 2:21255379-21255379 2:21032507-21032507
15 APOB NM_000384.3(APOB): c.10780T> C (p.Trp3594Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61744288 2:21228960-21228960 2:21006088-21006088
16 APOB NM_000384.3(APOB): c.10061C> G (p.Ala3354Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs61742331 2:21229679-21229679 2:21006807-21006807
17 APOB NM_000384.3(APOB): c.1648G> C (p.Asp550His) single nucleotide variant Conflicting interpretations of pathogenicity rs145862664 2:21251380-21251380 2:21028508-21028508
18 APOB NM_000384.3(APOB): c.307T> C (p.Tyr103His) single nucleotide variant Conflicting interpretations of pathogenicity rs9282603 2:21263886-21263886 2:21041014-21041014
19 APOB NM_000384.3(APOB): c.12382G> A (p.Val4128Met) single nucleotide variant Conflicting interpretations of pathogenicity rs1801703 2:21225912-21225912 2:21003040-21003040
20 APOB NM_000384.3(APOB): c.11761G> A (p.Val3921Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72654409 2:21227979-21227979 2:21005107-21005107
21 APOB NM_000384.3(APOB): c.9639C> A (p.Asn3213Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs574725520 2:21230101-21230101 2:21007229-21007229
22 APOB NM_000384.3(APOB): c.6937= (p.Ile2313=) single nucleotide variant Conflicting interpretations of pathogenicity rs584542 2:21232803-21232803 2:21009931-21009931
23 APOB NM_000384.3(APOB): c.49_51CTG[8] (p.Leu21_Leu22dup) short repeat Conflicting interpretations of pathogenicity rs745520533 2:21266752-21266757 2:21043880-21043885
24 APOB NM_000384.3(APOB): c.6018C> T (p.Gly2006=) single nucleotide variant Conflicting interpretations of pathogenicity rs368422207 2:21233722-21233722 2:21010850-21010850
25 APOB NM_000384.3(APOB): c.8720G> A (p.Arg2907His) single nucleotide variant Conflicting interpretations of pathogenicity rs751437976 2:21231020-21231020 2:21008148-21008148
26 APOB NM_000384.3(APOB): c.2630C> T (p.Pro877Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs12714097 2:21245889-21245889 2:21023017-21023017
27 APOB NM_000384.3(APOB): c.6636_6638TGA[1] (p.Asp2213del) short repeat Conflicting interpretations of pathogenicity rs541497967 2:21233099-21233101 2:21010227-21010229
28 APOB NM_000384.3(APOB): c.7696G> A (p.Glu2566Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1801696 2:21232044-21232044 2:21009172-21009172
29 APOB NM_000384.3(APOB): c.5066G> A (p.Arg1689His) single nucleotide variant Conflicting interpretations of pathogenicity rs151009667 2:21234674-21234674 2:21011802-21011802
30 APOB NM_000384.3(APOB): c.2585T> C (p.Val862Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs145142090 2:21246416-21246416 2:21023544-21023544
31 APOB NM_000384.3(APOB): c.1661C> T (p.Pro554Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs12714214 2:21251367-21251367 2:21028495-21028495
32 APOB NM_000384.3(APOB): c.9835A> G (p.Ser3279Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs12720854 2:21229905-21229905 2:21007033-21007033
33 APOB NM_000384.3(APOB): c.8462C> T (p.Pro2821Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72653095 2:21231278-21231278 2:21008406-21008406
34 APOB NM_000384.3(APOB): c.8353A> C (p.Asn2785His) single nucleotide variant Conflicting interpretations of pathogenicity rs2163204 2:21231387-21231387 2:21008515-21008515
35 APOB NM_000384.3(APOB): c.7285T> A (p.Ser2429Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs72653092 2:21232455-21232455 2:21009583-21009583
36 APOB NM_000384.3(APOB): c.10580G> A (p.Arg3527Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs5742904 2:21229160-21229160 2:21006288-21006288
37 APOB NM_000384.3(APOB): c.10579C> T (p.Arg3527Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs144467873 2:21229161-21229161 2:21006289-21006289
38 APOB NM_000384.3(APOB): c.9175C> T (p.Arg3059Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146377316 2:21230565-21230565 2:21007693-21007693
39 APOB NM_000384.3(APOB): c.13441G> A (p.Ala4481Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1801695 2:21224853-21224853 2:21001981-21001981
40 APOB NM_000384.3(APOB): c.2188G> A (p.Val730Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs12691202 2:21249716-21249716 2:21026844-21026844
41 APOB NM_000384.3(APOB): c.5768A> G (p.His1923Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs533617 2:21233972-21233972 2:21011100-21011100
42 APOB NM_000384.3(APOB): c.12252T> C (p.Tyr4084=) single nucleotide variant Conflicting interpretations of pathogenicity rs138157751 2:21226042-21226042 2:21003170-21003170
43 APOB NM_000384.3(APOB): c.12940A> G (p.Ile4314Val) single nucleotide variant Conflicting interpretations of pathogenicity rs72654423 2:21225354-21225354 2:21002482-21002482
44 APOB NM_000384.3(APOB): c.4178C> T (p.Ala1393Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143282164 2:21236070-21236070 2:21013198-21013198
45 APOB NM_000384.3(APOB): c.3634C> A (p.Leu1212Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61736761 2:21238007-21238007 2:21015135-21015135
46 APOB NM_000384.3(APOB): c.3337G> C (p.Asp1113His) single nucleotide variant Conflicting interpretations of pathogenicity rs12713844 2:21238413-21238413 2:21015541-21015541
47 APOB NM_000384.3(APOB): c.2222C> A (p.Thr741Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs12714192 2:21249682-21249682 2:21026810-21026810
48 APOB NM_000384.3(APOB): c.11477C> T (p.Thr3826Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61744153 2:21228263-21228263 2:21005391-21005391
49 APOB NM_000384.3(APOB): c.11401T> A (p.Ser3801Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs12713540 2:21228339-21228339 2:21005467-21005467
50 APOB NM_000384.3(APOB): c.10520G> C (p.Arg3507Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs201156840 2:21229220-21229220 2:21006348-21006348

UniProtKB/Swiss-Prot genetic disease variations for Hypercholesterolemia, Familial, 2:

74
# Symbol AA change Variation ID SNP ID
1 APOB p.Arg3527Gln VAR_005025 rs5742904
2 APOB p.Arg3558Cys VAR_005026 rs12713559

Expression for Hypercholesterolemia, Familial, 2

Search GEO for disease gene expression data for Hypercholesterolemia, Familial, 2.

Pathways for Hypercholesterolemia, Familial, 2

Pathways related to Hypercholesterolemia, Familial, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 LDLR APOE APOB
2
Show member pathways
12.1 LDLR APOE APOB
3
Show member pathways
11.97 LDLR APOE APOB
4
Show member pathways
11.83 LDLR APOB
5
Show member pathways
11.67 LDLR APOE APOB
6
Show member pathways
11.46 LDLR APOE APOB
7
Show member pathways
11.42 APOE APOB
8 10.87 LDLR APOE
9
Show member pathways
10.87 LDLR APOE APOB

GO Terms for Hypercholesterolemia, Familial, 2

Cellular components related to Hypercholesterolemia, Familial, 2 according to GeneCards Suite gene sharing:

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

Biological processes related to Hypercholesterolemia, Familial, 2 according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.8 LDLR APOE APOB
2 receptor-mediated endocytosis GO:0006898 9.71 LDLR APOE APOB
3 negative regulation of gene expression GO:0010629 9.64 LDLR APOE
4 cellular protein metabolic process GO:0044267 9.64 APOE APOB
5 membrane organization GO:0061024 9.63 LDLR APOB
6 retinoid metabolic process GO:0001523 9.63 APOE APOB
7 long-term memory GO:0007616 9.62 LDLR APOE
8 triglyceride catabolic process GO:0019433 9.61 APOE APOB
9 cholesterol transport GO:0030301 9.61 LDLR APOB
10 lipid transport GO:0006869 9.61 LDLR APOE APOB
11 low-density lipoprotein particle clearance GO:0034383 9.59 LDLR APOB
12 cholesterol efflux GO:0033344 9.58 APOE APOB
13 artery morphogenesis GO:0048844 9.58 APOE APOB
14 steroid metabolic process GO:0008202 9.58 LDLR APOE APOB
15 regulation of cholesterol metabolic process GO:0090181 9.57 LDLR APOE
16 low-density lipoprotein particle remodeling GO:0034374 9.56 APOE APOB
17 regulation of protein metabolic process GO:0051246 9.55 LDLR APOE
18 cholesterol homeostasis GO:0042632 9.54 LDLR APOE APOB
19 high-density lipoprotein particle clearance GO:0034384 9.52 LDLR APOE
20 chylomicron assembly GO:0034378 9.51 APOE APOB
21 cholesterol metabolic process GO:0008203 9.5 LDLR APOE APOB
22 chylomicron remodeling GO:0034371 9.49 APOE APOB
23 very-low-density lipoprotein particle clearance GO:0034447 9.48 APOE APOB
24 lipoprotein biosynthetic process GO:0042158 9.46 APOE APOB
25 lipoprotein metabolic process GO:0042157 9.33 LDLR APOE APOB
26 positive regulation of endocytosis GO:0045807 9.3 APOE
27 response to caloric restriction GO:0061771 9.26 LDLR APOE
28 chylomicron remnant clearance GO:0034382 9.13 LDLR APOE APOB
29 lipoprotein catabolic process GO:0042159 8.8 LDLR APOE APOB

Molecular functions related to Hypercholesterolemia, Familial, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.37 APOE APOB
2 phospholipid binding GO:0005543 9.32 APOE APOB
3 amyloid-beta binding GO:0001540 9.26 LDLR APOE
4 lipid transporter activity GO:0005319 9.16 APOE APOB
5 low-density lipoprotein particle receptor binding GO:0050750 8.96 APOE APOB
6 cholesterol transporter activity GO:0017127 8.62 APOE APOB

Sources for Hypercholesterolemia, Familial, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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