FCHL2
MCID: HYP837
MIFTS: 48

Hypercholesterolemia, Familial, 2 (FCHL2)

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hypercholesterolemia, Familial, 2

MalaCards integrated aliases for Hypercholesterolemia, Familial, 2:

Name: Hypercholesterolemia, Familial, 2 56
Hypercholesterolemia, Autosomal Dominant, Type B 56 29 39
Familial Ligand-Defective Apolipoprotein B-100 52 73
Apolipoprotein B-100, Familial Defective 56 54
Hypercholesterolemia, Familial, Due to Ligand-Defective Apolipoprotein B 56
Familial Hypercholesterolemia Due to Ligand-Defective 52
Apolipoprotein B-100, Familial Ligand-Defective 56
Autosomal Dominant Type B Hypercholesterolemia 52
Familial Defective Apolipoprotein B-100 52
Familial Hypercholesterolemia 2 6
Hyperlipoproteinemia, Type 2 a 52
Fchl2 56
Fdb 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
hypercholesterolemia, familial, 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypercholesterolemia, Familial, 2

UniProtKB/Swiss-Prot : 73 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 hypercholesterolemia, familial, 1 and familial hypercholesterolemia. 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 Evolocumab and Hypolipidemic 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 top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial, 1 30.4 LDLR APOE APOB
2 familial hypercholesterolemia 30.3 LDLR APOE APOB
3 coronary heart disease 1 29.8 LDLR APOE APOB
4 defective apolipoprotein b-100 29.8 LDLR APOE APOB
5 arcus corneae 29.7 LDLR APOB
6 arteries, anomalies of 29.7 APOE APOB
7 atherosclerosis susceptibility 29.6 LDLR APOE APOB
8 hyperlipoproteinemia, type iii 29.4 LDLR APOE APOB
9 xanthomatosis 29.4 LDLR APOE APOB
10 familial hyperlipidemia 29.2 LDLR APOE APOB
11 arteriosclerosis 29.2 LDLR APOE APOB
12 vascular disease 29.2 LDLR APOE APOB
13 cardiovascular system disease 29.1 LDLR APOE APOB
14 hypothyroidism 29.1 LDLR APOE APOB
15 myocardial infarction 29.0 LDLR APOE APOB
16 homozygous familial hypercholesterolemia 28.8 LDLR APOE APOB
17 hyperlipidemia, familial combined, 2 11.4
18 stomatitis 10.2
19 coronary artery anomaly 10.1
20 xanthoma disseminatum 10.0 APOE APOB
21 generalized atherosclerosis 9.9 APOE APOB
22 hyperlipoproteinemia, type iv 9.9 APOE APOB
23 familial lipoprotein lipase deficiency 9.9 APOE APOB
24 hyperlipoproteinemia, type v 9.9 APOE APOB
25 huntington disease-like 1 9.9 APOE APOB
26 platelet glycoprotein iv deficiency 9.9 APOE APOB
27 lecithin:cholesterol acyltransferase deficiency 9.9 APOE APOB
28 schnyder corneal dystrophy 9.9 APOE APOB
29 hypolipoproteinemia 9.9 APOE APOB
30 hypertriglyceridemia, familial 9.9 APOE APOB
31 coronary stenosis 9.9 APOE APOB
32 carotid artery disease 9.9 APOE APOB
33 peripheral artery disease 9.9 APOE APOB
34 tangier disease 9.9 APOE APOB
35 sleep apnea 9.9 APOE APOB
36 hyperuricemia 9.9 APOE APOB
37 gallbladder disease 9.8 APOE APOB
38 acquired immunodeficiency syndrome 9.8 APOE APOB
39 overnutrition 9.8 APOE APOB
40 aortic atherosclerosis 9.7 LDLR APOE
41 smith-lemli-opitz syndrome 9.7 LDLR APOE
42 glucose metabolism disease 9.7 APOE APOB
43 acquired metabolic disease 9.7 APOE APOB
44 hepatoblastoma 9.6 LDLR APOB
45 holoprosencephaly 9.5 APOE APOB
46 hepatitis c virus 9.5 LDLR APOE
47 lipoprotein glomerulopathy 9.3 LDLR APOE APOB
48 hyperalphalipoproteinemia 1 9.3 LDLR APOE APOB
49 hyperlipidemia, familial combined, 3 9.3 LDLR APOE APOB
50 abetalipoproteinemia 9.3 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:

31
# Description HPO Frequency HPO Source Accession
1 hypercholesterolemia 31 HP:0003124
2 corneal arcus 31 HP:0001084
3 xanthelasma 31 HP:0001114
4 coronary artery atherosclerosis 31 HP:0001677

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.33 APOB APOE LDLR
2 muscle MP:0005369 9.13 APOB APOE LDLR
3 pigmentation MP:0001186 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 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Evolocumab Approved Phase 2, Phase 3 1256937-27-5
2 Hypolipidemic Agents Phase 2, Phase 3
3 Anticholesteremic Agents Phase 2, Phase 3
4 Antimetabolites Phase 2, Phase 3
5 Lipid Regulating Agents Phase 2, Phase 3
6 Antibodies, Monoclonal Phase 2, Phase 3
7 Immunologic Factors Phase 2, Phase 3
8 Antibodies Phase 2, Phase 3
9 Immunoglobulins Phase 2, Phase 3
10
Atorvastatin Approved Phase 2 134523-00-5 60823
11 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 2-part, Phase 2/3 Study to Assess the Safety, Tolerability and Efficacy of AMG 145 in Subjects With Homozygous Familial Hypercholesterolemia. Part A - Open-label, Single-arm, Multicenter Pilot Study to Evaluate Safety, Tolerability and Efficacy of AMG 145 in Subjects With Homozygous Familial Hypercholesterolemia. Part B - Double-blind, Randomized, Placebo-controlled, Multicenter Study to Evaluate Safety, Tolerability and Efficacy of AMG 145 in Subjects With Homozygous Familial Hypercholesterolemia Completed NCT01588496 Phase 2, Phase 3 Placebo
2 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:

40
Heart

Publications for Hypercholesterolemia, Familial, 2

Articles related to Hypercholesterolemia, Familial, 2:

(show top 50) (show all 65)
# Title Authors PMID Year
1
Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity. 56 6
7883971 1995
2
Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. 56 6
3477815 1987
3
In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia. 56 6
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. 54 6
8254047 1993
5
Hypocholesterolaemic effects of lovastatin in familial defective apolipoprotein B-100. 54 56
1347103 1992
6
Familial defective apolipoprotein B-100: a common cause of primary hypercholesterolemia. 54 6
1600334 1992
7
20-Year Follow-up of Statins in Children with Familial Hypercholesterolemia. 56
31618540 2019
8
Familial Hypercholesterolemia 6
24404629 2014
9
Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene. 6
11781700 2001
10
High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects. 6
11494965 2001
11
The molecular mechanism for the genetic disorder familial defective apolipoprotein B100. 6
11115503 2001
12
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. 6
10952765 2000
13
Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease. 6
9603795 1998
14
Estimation of the age of the ancestral arginine3500-->glutamine mutation in human apoB-100. 6
9339363 1997
15
Phenotypic variation in patients heterozygous for familial defective apolipoprotein B (FDB) in three European countries. 56
9108789 1997
16
Homozygous familial defective apolipoprotein B-100. Enhanced removal of apolipoprotein E-containing VLDLs and decreased production of LDLs. 6
9081691 1997
17
Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100. 6
8723684 1996
18
Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100. 6
8318509 1993
19
Absence of familial defective apolipoprotein B-100 in Israeli patients with dominantly inherited hypercholesterolemia and in offspring with parental history of myocardial infarction. 6
8478017 1993
20
Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: further support for a unique European ancestral mutation. 6
8318993 1993
21
Screening for the apolipoprotein B-100 arginine3500-->glutamine mutation in patients with type III hyperlipoproteinemia. 6
1493642 1992
22
Familial defective apolipoprotein B-100: mild hypercholesterolaemia without atherosclerosis in a homozygous patient. 6
1360085 1992
23
Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease. 6
1466657 1992
24
Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100. 6
1977310 1990
25
Absence of familial defective apolipoprotein B-100 in Finnish patients with elevated serum cholesterol. 6
2375782 1990
26
Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. 6
2563166 1989
27
Familial defective apolipoprotein B-100: enhanced binding of monoclonal antibody MB47 to abnormal low density lipoproteins. 56
3200853 1988
28
The metabolism in vivo and in vitro of plasma low-density lipoprotein from a subject with inherited hypercholesterolaemia. 56
186227 1976
29
A new type of familial hypercholesterolaemia. 56
52771 1975
30
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. 56
4368448 1974
31
R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia. 54 61
11031227 2000
32
Molecular description of familial defective APOB-100 in Malaysia. 61
23775634 2013
33
High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations. 61
18325181 2008
34
Monogenic hypercholesterolaemias--an evaluation of apolipoprotein B100 and LDL receptor gene polymorphisms. 54
16502360 2006
35
Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico. 54
16314194 2006
36
Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics. 54
11851376 2001
37
[Identification and characterization of the first Spanish familial ligand-defective apolipoprotein B homozygote]. 61
11222161 2001
38
[Familial hyperlipoproteinemias--correlations between phenotypes and genotypes]. 54
11262894 2000
39
Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia. 54
11040093 2000
40
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. 54
9727746 1998
41
Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK. 61
9105560 1997
42
Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French population. 61
9259199 1997
43
Increased clearance of low density lipoprotein precursors in patients with heterozygous familial defective apolipoprotein B-100: a stable isotope approach. 54
8906585 1996
44
Familial hypercholesterolemia and familial defective apolipoprotein B-100: comparison of the phenotypic expression In 116 cases. 54
9360938 1996
45
[DNA analysis in heterozygotes in familial hypercholesterolemia]. 54
7758080 1995
46
[Detection of the Arg 3500-->Gln mutation of B apolipoprotein. Value in clinical practice]. 54
7784416 1995
47
Isolation of allele-specific, receptor-binding-defective low density lipoproteins from familial defective apolipoprotein B-100 subjects. 54
7989871 1994
48
Detection of familial defective apolipoprotein B-100 among patients clinically diagnosed with heterozygous familial hypercholesterolemia in maritime Canada. 54
8001287 1994
49
High prevalence of familial defective apolipoprotein B-100 in Switzerland. 54
8006512 1994
50
Identification of defective binding of low density lipoprotein by the U937 proliferation assay in German patients with familial defective apolipoprotein B-100. 54
8187806 1994

Variations for Hypercholesterolemia, Familial, 2

ClinVar genetic disease variations for Hypercholesterolemia, Familial, 2:

6 (show top 50) (show all 190) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APOB NM_000384.3(APOB):c.7537C>T (p.Arg2513Ter)SNV Pathogenic 69511 2:21232203-21232203 2:21009331-21009331
2 APOB NM_000384.3(APOB):c.409G>T (p.Glu137Ter)SNV Pathogenic 404400 rs766243954 2:21260958-21260958 2:21038086-21038086
3 APOB NC_000002.11:g.(?_21224582)_(21258600_?)deldeletion Pathogenic 544130 2:21224582-21258600 2:21001710-21035728
4 APOB NM_000384.3(APOB):c.9110_9114TTTTC[1] (p.Phe3039fs)short repeat Pathogenic 544076 rs1215189537 2:21230621-21230625 2:21007749-21007753
5 APOB NM_000384.3(APOB):c.7605C>A (p.Tyr2535Ter)SNV Pathogenic 544071 rs1553383473 2:21232135-21232135 2:21009263-21009263
6 APOB NM_000384.3(APOB):c.6543del (p.Phe2181fs)deletion Pathogenic 569699 rs1558564161 2:21233197-21233197 2:21010325-21010325
7 APOB NM_000384.3(APOB):c.4503T>G (p.Tyr1501Ter)SNV Pathogenic 577519 rs368825685 2:21235237-21235237 2:21012365-21012365
8 APOB NM_000384.3(APOB):c.671del (p.Pro224fs)deletion Pathogenic 648832 2:21259994-21259994 2:21037122-21037122
9 APOB NM_000384.3(APOB):c.11789-1G>CSNV Likely pathogenic 580451 rs1558560212 2:21227548-21227548 2:21004676-21004676
10 APOB NM_000384.3(APOB):c.10186G>A (p.Ala3396Thr)SNV Likely pathogenic 444010 rs1553383017 2:21229554-21229554 2:21006682-21006682
11 APOB NM_000384.3(APOB):c.10187C>A (p.Ala3396Asp)SNV Likely pathogenic 180278 rs730880052 2:21229553-21229553 2:21006681-21006681
12 APOB NM_000384.3(APOB):c.2585T>C (p.Val862Ala)SNV Conflicting interpretations of pathogenicity 189305 rs145142090 2:21246416-21246416 2:21023544-21023544
13 APOB NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)SNV Conflicting interpretations of pathogenicity 17890 rs5742904 2:21229160-21229160 2:21006288-21006288
14 APOB NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)SNV Conflicting interpretations of pathogenicity 40223 rs144467873 2:21229161-21229161 2:21006289-21006289
15 APOB NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)SNV Conflicting interpretations of pathogenicity 69508 rs146377316 2:21230565-21230565 2:21007693-21007693
16 APOB NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)SNV Conflicting interpretations of pathogenicity 128419 rs1801695 2:21224853-21224853 2:21001981-21001981
17 APOB NM_000384.3(APOB):c.2188G>A (p.Val730Ile)SNV Conflicting interpretations of pathogenicity 128421 rs12691202 2:21249716-21249716 2:21026844-21026844
18 APOB NM_000384.3(APOB):c.5768A>G (p.His1923Arg)SNV Conflicting interpretations of pathogenicity 128423 rs533617 2:21233972-21233972 2:21011100-21011100
19 APOB NM_000384.3(APOB):c.8148C>T (p.Ile2716=)SNV Conflicting interpretations of pathogenicity 237751 rs6413458 2:21231592-21231592 2:21008720-21008720
20 APOB NM_000384.3(APOB):c.2706C>T (p.Asn902=)SNV Conflicting interpretations of pathogenicity 255981 rs1801700 2:21245813-21245813 2:21022941-21022941
21 APOB NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)SNV Conflicting interpretations of pathogenicity 255979 rs13306194 2:21252534-21252534 2:21029662-21029662
22 APOB NM_000384.3(APOB):c.13477_13479CAG[1] (p.Gln4494del)short repeat Conflicting interpretations of pathogenicity 265896 rs562574661 2:21224812-21224814 2:21001940-21001942
23 APOB NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)SNV Conflicting interpretations of pathogenicity 255978 rs12713450 2:21224843-21224843 2:21001971-21001971
24 APOB NM_000384.3(APOB):c.7853T>C (p.Ile2618Thr)SNV Conflicting interpretations of pathogenicity 265889 rs531273434 2:21231887-21231887 2:21009015-21009015
25 APOB NM_000384.3(APOB):c.9811G>A (p.Gly3271Ser)SNV Conflicting interpretations of pathogenicity 334109 rs142422341 2:21229929-21229929 2:21007057-21007057
26 APOB NM_000384.3(APOB):c.7615G>A (p.Val2539Ile)SNV Conflicting interpretations of pathogenicity 334125 rs148170480 2:21232125-21232125 2:21009253-21009253
27 APOB NM_000384.3(APOB):c.433C>T (p.Pro145Ser)SNV Conflicting interpretations of pathogenicity 334184 rs6752026 2:21260934-21260934 2:21038062-21038062
28 APOB NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys)SNV Conflicting interpretations of pathogenicity 334088 rs373477107 2:21227317-21227317 2:21004445-21004445
29 APOB NM_000384.3(APOB):c.5763A>G (p.Gly1921=)SNV Conflicting interpretations of pathogenicity 334134 rs141022509 2:21233977-21233977 2:21011105-21011105
30 APOB NM_000384.3(APOB):c.3034G>A (p.Glu1012Lys)SNV Conflicting interpretations of pathogenicity 334160 rs575505383 2:21241951-21241951 2:21019079-21019079
31 APOB NM_000384.3(APOB):c.13175G>A (p.Ser4392Asn)SNV Conflicting interpretations of pathogenicity 373587 rs777718986 2:21225119-21225119 2:21002247-21002247
32 APOB NM_000384.3(APOB):c.1199G>A (p.Arg400His)SNV Conflicting interpretations of pathogenicity 477795 rs530171166 2:21255379-21255379 2:21032507-21032507
33 APOB NM_000384.3(APOB):c.3383G>A (p.Arg1128His)SNV Conflicting interpretations of pathogenicity 281142 rs12713843 2:21238367-21238367 2:21015495-21015495
34 APOB NM_000384.3(APOB):c.2968G>A (p.Ala990Thr)SNV Conflicting interpretations of pathogenicity 431493 rs139434026 2:21242626-21242626 2:21019754-21019754
35 APOB NM_000384.3(APOB):c.6018C>T (p.Gly2006=)SNV Conflicting interpretations of pathogenicity 490397 rs368422207 2:21233722-21233722 2:21010850-21010850
36 APOB NM_000384.3(APOB):c.8720G>A (p.Arg2907His)SNV Conflicting interpretations of pathogenicity 490402 rs751437976 2:21231020-21231020 2:21008148-21008148
37 APOB NM_000384.3(APOB):c.4280G>A (p.Arg1427His)SNV Conflicting interpretations of pathogenicity 627779 rs145324793 2:21235460-21235460 2:21012588-21012588
38 APOB NM_000384.3(APOB):c.13101del (p.Gln4368fs)deletion Uncertain significance 653899 2:21225193-21225193 2:21002321-21002321
39 APOB NM_000384.3(APOB):c.12977T>A (p.Ile4326Asn)SNV Uncertain significance 664736 2:21225317-21225317 2:21002445-21002445
40 APOB NM_000384.3(APOB):c.12298G>A (p.Val4100Met)SNV Uncertain significance 653049 2:21225996-21225996 2:21003124-21003124
41 APOB NM_000384.3(APOB):c.11285A>C (p.Lys3762Thr)SNV Uncertain significance 642381 2:21228455-21228455 2:21005583-21005583
42 APOB NM_000384.3(APOB):c.9788T>C (p.Phe3263Ser)SNV Uncertain significance 662936 2:21229952-21229952 2:21007080-21007080
43 APOB NM_000384.3(APOB):c.9770A>G (p.Asn3257Ser)SNV Uncertain significance 664229 2:21229970-21229970 2:21007098-21007098
44 APOB NM_000384.3(APOB):c.9712T>A (p.Ser3238Thr)SNV Uncertain significance 664276 2:21230028-21230028 2:21007156-21007156
45 APOB NM_000384.3(APOB):c.9145T>A (p.Ser3049Thr)SNV Uncertain significance 654652 2:21230595-21230595 2:21007723-21007723
46 APOB NM_000384.3(APOB):c.9077A>T (p.Asn3026Ile)SNV Uncertain significance 656976 2:21230663-21230663 2:21007791-21007791
47 APOB NM_000384.3(APOB):c.8855G>T (p.Gly2952Val)SNV Uncertain significance 655327 2:21230885-21230885 2:21008013-21008013
48 APOB NM_000384.3(APOB):c.8294A>G (p.Gln2765Arg)SNV Uncertain significance 658092 2:21231446-21231446 2:21008574-21008574
49 APOB NM_000384.3(APOB):c.8243A>G (p.His2748Arg)SNV Uncertain significance 641188 2:21231497-21231497 2:21008625-21008625
50 APOB NM_000384.3(APOB):c.7843C>T (p.Pro2615Ser)SNV Uncertain significance 658090 2:21231897-21231897 2:21009025-21009025

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

73
# 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
11.66 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 9.54 LDLR APOE APOB
2 endosome membrane GO:0010008 9.46 LDLR APOB
3 high-density lipoprotein particle GO:0034364 9.43 APOE APOB
4 very-low-density lipoprotein particle GO:0034361 9.4 APOE APOB
5 endocytic vesicle lumen GO:0071682 9.32 APOE APOB
6 chylomicron GO:0042627 9.26 APOE APOB
7 intermediate-density lipoprotein particle GO:0034363 9.16 APOE APOB
8 clathrin-coated endocytic vesicle membrane GO:0030669 9.13 LDLR APOE APOB
9 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 27)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.79 LDLR APOE APOB
2 receptor-mediated endocytosis GO:0006898 9.7 LDLR APOE APOB
3 lipid transport GO:0006869 9.65 LDLR APOE APOB
4 cellular protein metabolic process GO:0044267 9.63 APOE APOB
5 membrane organization GO:0061024 9.63 LDLR APOB
6 steroid metabolic process GO:0008202 9.63 LDLR APOE APOB
7 retinoid metabolic process GO:0001523 9.62 APOE APOB
8 long-term memory GO:0007616 9.61 LDLR APOE
9 low-density lipoprotein particle clearance GO:0034383 9.61 LDLR APOB
10 cholesterol transport GO:0030301 9.6 LDLR APOB
11 cholesterol efflux GO:0033344 9.59 APOE APOB
12 regulation of cholesterol metabolic process GO:0090181 9.58 LDLR APOE
13 low-density lipoprotein particle remodeling GO:0034374 9.58 APOE APOB
14 cholesterol homeostasis GO:0042632 9.58 LDLR APOE APOB
15 regulation of protein metabolic process GO:0051246 9.57 LDLR APOE
16 high-density lipoprotein particle clearance GO:0034384 9.56 LDLR APOE
17 chylomicron assembly GO:0034378 9.55 APOE APOB
18 chylomicron remodeling GO:0034371 9.54 APOE APOB
19 cholesterol metabolic process GO:0008203 9.54 LDLR APOE APOB
20 lipoprotein biosynthetic process GO:0042158 9.51 APOE APOB
21 very-low-density lipoprotein particle clearance GO:0034447 9.49 APOE APOB
22 negative regulation of amyloid fibril formation GO:1905907 9.43 LDLR APOE
23 artery morphogenesis GO:0048844 9.43 LDLR APOE APOB
24 lipoprotein metabolic process GO:0042157 9.33 LDLR APOE APOB
25 response to caloric restriction GO:0061771 9.32 LDLR APOE
26 chylomicron remnant clearance GO:0034382 9.13 LDLR APOE APOB
27 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 intermembrane cholesterol transfer activity GO:0120020 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 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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