FHCL2
MCID: HYP837
MIFTS: 50

Hypercholesterolemia, Familial, 2 (FHCL2)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Hypercholesterolemia, Familial, 2

MalaCards integrated aliases for Hypercholesterolemia, Familial, 2:

Name: Hypercholesterolemia, Familial, 2 57 73
Hypercholesterolemia, Autosomal Dominant, Type B 57 28 5
Apolipoprotein B-100, Familial Defective 57 53
Fhcl2 57 73
Hypercholesterolemia, Familial, Due to Ligand-Defective Apolipoprotein B 57
Apolipoprotein B-100, Familial Ligand-Defective 57
Autosomal Dominant Type B Hypercholesterolemia 19
Familial Ligand-Defective Apolipoprotein B-100 73
Hypercholesterolemia, Familial, Type 2 38
Hyperlipoproteinemia Type Iib 71
Fdb 73

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

OMIM® 57 144010
OMIM Phenotypic Series 57 PS143890
MeSH 43 D006938
UMLS 71 C1704417

Summaries for Hypercholesterolemia, Familial, 2

UniProtKB/Swiss-Prot: 73 A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL2 inheritance is autosomal dominant.

MalaCards based summary: Hypercholesterolemia, Familial, 2, also known as hypercholesterolemia, autosomal dominant, type b, is related to hypobetalipoproteinemia, familial, 1 and hyperlipidemia, familial combined, 3. An important gene associated with Hypercholesterolemia, Familial, 2 is APOB (Apolipoprotein B), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Visual phototransduction. The drugs Rosuvastatin Calcium and Hydroxymethylglutaryl-CoA Reductase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are increased ldl cholesterol concentration and hypercholesterolemia

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 58)
# Related Disease Score Top Affiliating Genes
1 hypobetalipoproteinemia, familial, 1 29.5 LOC106560211 LDLR APOE APOB
2 hyperlipidemia, familial combined, 3 29.5 LOC106560211 LDLR APOE APOB
3 hypercholesterolemia, familial, 1 29.3 LOC106560211 LDLR APOE APOB
4 familial hypercholesterolemia 29.3 LOC106560211 LDLR APOE APOB
5 defective apolipoprotein b-100 10.5
6 hyperlipoproteinemia, type i 10.0 APOE APOB
7 hyperlipoproteinemia, type iv 10.0 APOE APOB
8 generalized atherosclerosis 10.0 APOE APOB
9 familial lipoprotein lipase deficiency 10.0 APOE APOB
10 cerebral atherosclerosis 10.0 APOE APOB
11 aortic atherosclerosis 10.0 APOE APOB
12 platelet glycoprotein iv deficiency 10.0 APOE APOB
13 hyperlipoproteinemia, type v 10.0 APOE APOB
14 lecithin:cholesterol acyltransferase deficiency 10.0 APOE APOB
15 nonobstructive coronary artery disease 10.0 APOE APOB
16 hypertriglyceridemia 1 10.0 APOE APOB
17 hypolipoproteinemia 10.0 APOE APOB
18 hypoalphalipoproteinemia, primary, 1 10.0 APOE APOB
19 carotid artery disease 10.0 APOE APOB
20 peripheral artery disease 10.0 APOE APOB
21 abetalipoproteinemia 10.0 APOE APOB
22 sitosterolemia 10.0 APOE APOB
23 coronary stenosis 10.0 APOE APOB
24 tangier disease 9.9 APOE APOB
25 stomatitis 9.9
26 hyperuricemia 9.9 APOE APOB
27 sleep apnea 9.9 APOE APOB
28 peripheral vascular disease 9.9 APOE APOB
29 niemann-pick disease 9.9 APOE APOB
30 acquired immunodeficiency syndrome 9.9 APOE APOB
31 acquired metabolic disease 9.9 APOE APOB
32 fatty liver disease 9.9 APOE APOB
33 homozygous familial hypercholesterolemia 9.9 LDLR APOB
34 hypoalphalipoproteinemia 9.8 LDLR APOB
35 glucose metabolism disease 9.8 APOE APOB
36 hypercholesterolemia, familial, 4 9.8 LDLR APOB
37 arteriosclerosis 9.8 APOE APOB
38 smith-lemli-opitz syndrome 9.8 LDLR APOE
39 aortic dissection 9.8 LDLR APOE
40 arteries, anomalies of 9.8 APOE APOB
41 hepatitis c virus 9.8 LDLR APOE
42 cerebrovascular disease 9.7 APOE APOB
43 carbohydrate metabolic disorder 9.6 APOE APOB
44 arcus corneae 9.6 LDLR APOE APOB
45 hyperlipoproteinemia, type iii 9.6 LDLR APOE APOB
46 coronary heart disease 1 9.6 LDLR APOE APOB
47 xanthomatosis 9.6 LDLR APOE APOB
48 hyperalphalipoproteinemia 1 9.6 LDLR APOE APOB
49 familial hyperlipidemia 9.6 LDLR APOE APOB
50 atherosclerosis susceptibility 9.6 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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased ldl cholesterol concentration 30 Very rare (1%) HP:0003141
2 hypercholesterolemia 30 Very rare (1%) HP:0003124
3 coronary artery atherosclerosis 30 HP:0001677
4 xanthelasma 30 HP:0001114
5 corneal arcus 30 HP:0001084

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Laboratory Abnormalities:
hypercholesterolemia
abnormal ldl

Cardiovascular Heart:
coronary artery disease

Head And Neck Eyes:
xanthelasma
corneal arcus

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

Clinical features from OMIM®:

144010 (Updated 24-Oct-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased LDL uptake GR00340-A-1 8.65 APOE
2 Increased free cholesterol GR00340-A-2 8.62 APOB APOE

MGI Mouse Phenotypes related to Hypercholesterolemia, Familial, 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rosuvastatin Calcium Phase 4 147098-20-2
2 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
3 Lipid Regulating Agents Phase 4
4 Calcium, Dietary Phase 4
5 Antimetabolites Phase 4
6 Anticholesteremic Agents Phase 4
7 Hypolipidemic Agents Phase 4
8
Calcium Nutraceutical Phase 4 7440-70-2 271
9
Ezetimibe Approved 163222-33-1 150311
10
Evolocumab Approved 1256937-27-5
11
Atorvastatin Approved 134523-00-5 60823
12
D-Alanine Experimental, Nutraceutical 302-72-7, 338-69-2, 56-41-7 101757026 602 5950 71080

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Double-blind, Double Dummy, Phase IV, Randomized, Multicenter, Parallel Group, Placebo Controlled Trial to Evaluate the Effect of Rosuvastatin on Triglycerides Levels in Mexican Hypertriglyceridemic Patients Completed NCT00473655 Phase 4 rosuvastatin
2 Impact of Genetic Testing and Motivational Counseling on the Adherence to Healthy Lifestyle and Hypolipidemic Therapy and Efficiency of Cascade Screening in Patients With Familial Hypercholesterolemia (GENMOTIV-FH) Recruiting NCT04656028

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 28 APOB

Anatomical Context for Hypercholesterolemia, Familial, 2

Organs/tissues related to Hypercholesterolemia, Familial, 2:

MalaCards : Heart

Publications for Hypercholesterolemia, Familial, 2

Articles related to Hypercholesterolemia, Familial, 2:

(show top 50) (show all 117)
# Title Authors PMID Year
1
Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity. 57 5
7883971 1995
2
Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. 57 5
3477815 1987
3
In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia. 57 5
3771801 1986
4
High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations. 62 5
18325181 2008
5
Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK. 62 5
9105560 1997
6
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. 53 5
8254047 1993
7
Hypocholesterolaemic effects of lovastatin in familial defective apolipoprotein B-100. 53 57
1347103 1992
8
Familial defective apolipoprotein B-100: a common cause of primary hypercholesterolemia. 53 5
1600334 1992
9
Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia. 5
33207932 2021
10
Inclisiran for the Treatment of Heterozygous Familial Hypercholesterolemia. 57
32197277 2020
11
Two Phase 3 Trials of Inclisiran in Patients with Elevated LDL Cholesterol. 57
32187462 2020
12
20-Year Follow-up of Statins in Children with Familial Hypercholesterolemia. 57
31618540 2019
13
Lipid profile and genetic status in a familial hypercholesterolemia pediatric population: exploring the LDL/HDL ratio. 5
30710474 2019
14
Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program. 5
31106297 2018
15
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study. 5
28965616 2017
16
Frequency and clinical and molecular aspects of familial hypercholesterolemia in an endocrinology unit in Ciudad Bolívar, Venezuela. 5
28895539 2017
17
Familial Hypercholesterolemia and Type 2 Diabetes in the Old Order Amish. 5
28428224 2017
18
Genetic diagnosis of familial hypercholesterolemia in Han Chinese. 5
27206935 2016
19
Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population. 5
26415676 2015
20
Identification of Medically Actionable Secondary Findings in the 1000 Genomes. 5
26332594 2015
21
Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia. 5
24234650 2014
22
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. 5
24507775 2014
23
Familial Hypercholesterolemia 5
24404629 2014
24
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 5
23375686 2013
25
Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands. 5
23936638 2013
26
Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia. 5
22408029 2012
27
Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis. 5
22855658 2012
28
Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes. 5
22294733 2012
29
Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels. 5
22095935 2012
30
Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family. 5
21868016 2011
31
Array-based resequencing for mutations causing familial hypercholesterolemia. 5
21376320 2011
32
Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish. 5
21059979 2010
33
Update of the Portuguese Familial Hypercholesterolaemia Study. 5
20828696 2010
34
Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia. 5
20538126 2010
35
Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B. 5
20032471 2010
36
Detection of familial defective apoB (FDB) mutations in hypercholesterolemic children and adolescents by denaturing high performance liquid chromatography (DHPLC). 5
18222178 2008
37
Molecular diagnosis of hypobetalipoproteinemia: an ENID review. 5
17570373 2007
38
Identification and characterization of novel low-density lipoprotein receptor mutations of familial hypercholesterolaemia patients in Taiwan. 5
17087781 2006
39
Update of the molecular basis of familial hypercholesterolemia in The Netherlands. 5
16250003 2005
40
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
41
Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia. 5
15984016 2005
42
Mutation in apolipoprotein B associated with hypobetalipoproteinemia despite decreased binding to the low density lipoprotein receptor. 5
15797858 2005
43
Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia. 5
12872264 2003
44
Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene. 5
11781700 2001
45
High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects. 5
11494965 2001
46
The molecular mechanism for the genetic disorder familial defective apolipoprotein B100. 5
11115503 2001
47
Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia. 5
11238294 2001
48
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. 5
10952765 2000
49
Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500-->Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405-->Gln) diminishes receptor-mediated uptake of LDL. 5
10388479 1999
50
The apolipoprotein B R3531C mutation. Characteristics of 24 subjects from 9 kindreds. 5
9925662 1999

Variations for Hypercholesterolemia, Familial, 2

ClinVar genetic disease variations for Hypercholesterolemia, Familial, 2:

5 (show top 50) (show all 1312)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APOB NM_000384.3(APOB):c.3562A>T (p.Lys1188Ter) SNV Pathogenic
976726 rs773255823 GRCh37: 2:21238079-21238079
GRCh38: 2:21015207-21015207
2 APOB NM_000384.3(APOB):c.11397del (p.Lys3799fs) DEL Pathogenic
1299586 GRCh37: 2:21228343-21228343
GRCh38: 2:21005471-21005471
3 APOB NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter) SNV Pathogenic
17883 rs121918383 GRCh37: 2:21236251-21236251
GRCh38: 2:21013379-21013379
4 APOB NM_000384.3(APOB):c.10171del (p.Arg3391fs) DEL Pathogenic
917844 rs1663151257 GRCh37: 2:21229569-21229569
GRCh38: 2:21006697-21006697
5 APOB NM_000384.3(APOB):c.2979T>A (p.Tyr993Ter) SNV Pathogenic
1369494 GRCh37: 2:21242615-21242615
GRCh38: 2:21019743-21019743
6 APOB NM_000384.3(APOB):c.7489C>T (p.Gln2497Ter) SNV Pathogenic
1386291 GRCh37: 2:21232251-21232251
GRCh38: 2:21009379-21009379
7 APOB NM_000384.3(APOB):c.331_332del (p.Ala111fs) DEL Pathogenic
1402036 GRCh37: 2:21263861-21263862
GRCh38: 2:21040989-21040990
8 APOB NM_000384.3(APOB):c.9960del (p.Phe3320fs) DEL Pathogenic
1406951 GRCh37: 2:21229780-21229780
GRCh38: 2:21006908-21006908
9 APOB NM_000384.3(APOB):c.11532del (p.Asn3845fs) DEL Pathogenic
1416136 GRCh37: 2:21228208-21228208
GRCh38: 2:21005336-21005336
10 APOB NM_000384.3(APOB):c.10327G>T (p.Glu3443Ter) SNV Pathogenic
1454956 GRCh37: 2:21229413-21229413
GRCh38: 2:21006541-21006541
11 APOB NM_000384.3(APOB):c.7704T>G (p.Tyr2568Ter) SNV Pathogenic
1456415 GRCh37: 2:21232036-21232036
GRCh38: 2:21009164-21009164
12 APOB NM_000384.3(APOB):c.1998C>A (p.Tyr666Ter) SNV Pathogenic
1416940 GRCh37: 2:21250769-21250769
GRCh38: 2:21027897-21027897
13 APOB NM_000384.3(APOB):c.8528_8531dup (p.Phe2845fs) DUP Pathogenic
1455782 GRCh37: 2:21231208-21231209
GRCh38: 2:21008336-21008337
14 APOB NM_000384.3(APOB):c.3785_3786insG (p.Asn1262fs) INSERT Pathogenic
1457126 GRCh37: 2:21237376-21237377
GRCh38: 2:21014504-21014505
15 APOB NC_000002.11:g.(?_21224592)_(21266827_?)del DEL Pathogenic
1457480 GRCh37: 2:21224592-21266827
GRCh38:
16 APOB NM_000384.3(APOB):c.1258G>T (p.Glu420Ter) SNV Pathogenic
1458186 GRCh37: 2:21255320-21255320
GRCh38: 2:21032448-21032448
17 APOB NM_000384.3(APOB):c.11465del (p.Val3822fs) DEL Pathogenic
1432825 GRCh37: 2:21228275-21228275
GRCh38: 2:21005403-21005403
18 APOB NM_000384.3(APOB):c.3778G>T (p.Glu1260Ter) SNV Pathogenic
1458005 GRCh37: 2:21237384-21237384
GRCh38: 2:21014512-21014512
19 APOB NM_000384.3(APOB):c.8075_8076dup (p.Leu2693fs) MICROSAT Pathogenic
1364654 GRCh37: 2:21231663-21231664
GRCh38: 2:21008791-21008792
20 APOB NM_000384.3(APOB):c.4651C>T (p.Gln1551Ter) SNV Pathogenic
431499 GRCh37: 2:21235089-21235089
GRCh38: 2:21012217-21012217
21 APOB NM_000384.3(APOB):c.13392_13393del (p.Lys4465fs) MICROSAT Pathogenic
1685525 GRCh37: 2:21224901-21224902
GRCh38: 2:21002029-21002030
22 APOB NM_000384.3(APOB):c.9152_9155del (p.Asn3051fs) MICROSAT Pathogenic
1685526 GRCh37: 2:21230585-21230588
GRCh38: 2:21007713-21007716
23 APOB NM_000384.3(APOB):c.1468C>T (p.Arg490Trp) SNV Pathogenic
1685527 GRCh37: 2:21252772-21252772
GRCh38: 2:21029900-21029900
24 LOC106560211, APOB NC_000002.12:g.21043538_21043551delCAGCATTTCCTCTT DEL Pathogenic
1685528 GRCh37: 2:21266410-21266423
GRCh38: 2:21043538-21043551
25 APOB NM_000384.3(APOB):c.7966_7969del (p.Phe2656fs) DEL Pathogenic
1453164 GRCh37: 2:21231771-21231774
GRCh38: 2:21008899-21008902
26 APOB NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter) SNV Pathogenic
17887 rs121918386 GRCh37: 2:21233487-21233487
GRCh38: 2:21010615-21010615
27 APOB NM_000384.3(APOB):c.11712del (p.Asn3904fs) DEL Pathogenic
17896 rs587776852 GRCh37: 2:21228028-21228028
GRCh38: 2:21005156-21005156
28 APOB NM_000384.3(APOB):c.7151_7155del (p.Val2384fs) DEL Pathogenic
921367 rs1441446862 GRCh37: 2:21232585-21232589
GRCh38: 2:21009713-21009717
29 APOB NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) SNV Pathogenic
Pathogenic
40223 rs144467873 GRCh37: 2:21229161-21229161
GRCh38: 2:21006289-21006289
30 APOB NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) SNV Pathogenic
Pathogenic
17890 GRCh37: 2:21229160-21229160
GRCh38: 2:21006288-21006288
31 APOB NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs) DEL Pathogenic
17881 rs281865425 GRCh37: 2:21234474-21234477
GRCh38: 2:21011602-21011605
32 APOB NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter) SNV Pathogenic
17895 rs121918390 GRCh37: 2:21232176-21232176
GRCh38: 2:21009304-21009304
33 APOB NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys) SNV Pathogenic
69508 GRCh37: 2:21230565-21230565
GRCh38: 2:21007693-21007693
34 APOB NM_000384.3(APOB):c.7537C>T (p.Arg2513Ter) SNV Pathogenic
69511 rs146538280 GRCh37: 2:21232203-21232203
GRCh38: 2:21009331-21009331
35 APOB NM_000384.3(APOB):c.1672C>T (p.Arg558Ter) SNV Pathogenic
237741 rs878853970 GRCh37: 2:21251356-21251356
GRCh38: 2:21028484-21028484
36 APOB NM_000384.3(APOB):c.9523del (p.Ala3175fs) DEL Pathogenic
237754 rs878853973 GRCh37: 2:21230217-21230217
GRCh38: 2:21007345-21007345
37 APOB and overlap with 1 gene(s) NC_000002.12:g.(?_21001710)_(21035728_?)del DEL Pathogenic
544130 GRCh37: 2:21224582-21258600
GRCh38: 2:21001710-21035728
38 APOB NM_000384.3(APOB):c.9115_9119del (p.Phe3039fs) MICROSAT Pathogenic
544076 rs1215189537 GRCh37: 2:21230621-21230625
GRCh38: 2:21007749-21007753
39 APOB NM_000384.3(APOB):c.7605C>A (p.Tyr2535Ter) SNV Pathogenic
544071 rs1553383473 GRCh37: 2:21232135-21232135
GRCh38: 2:21009263-21009263
40 APOB NM_000384.3(APOB):c.9176G>A (p.Arg3059His) SNV Pathogenic
490404 rs781645624 GRCh37: 2:21230564-21230564
GRCh38: 2:21007692-21007692
41 APOB NM_000384.3(APOB):c.4089C>A (p.Tyr1363Ter) SNV Pathogenic
477784 rs1553384177 GRCh37: 2:21236159-21236159
GRCh38: 2:21013287-21013287
42 APOB NM_000384.3(APOB):c.1830-1G>A SNV Pathogenic
477783 rs1399892057 GRCh37: 2:21250938-21250938
GRCh38: 2:21028066-21028066
43 APOB NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn) SNV Pathogenic
438310 rs1382988295 GRCh37: 2:21229558-21229558
GRCh38: 2:21006686-21006686
44 APOB NM_000384.3(APOB):c.10238del (p.Thr3413fs) DEL Pathogenic
434252 rs756209187 GRCh37: 2:21229502-21229502
GRCh38: 2:21006630-21006630
45 APOB NM_000384.3(APOB):c.5116dup (p.Thr1706fs) DUP Pathogenic
404409 rs1553383931 GRCh37: 2:21234623-21234624
GRCh38: 2:21011751-21011752
46 APOB NM_000384.3(APOB):c.409G>T (p.Glu137Ter) SNV Pathogenic
404400 rs766243954 GRCh37: 2:21260958-21260958
GRCh38: 2:21038086-21038086
47 APOB NM_000384.3(APOB):c.4503T>G (p.Tyr1501Ter) SNV Pathogenic
577519 rs368825685 GRCh37: 2:21235237-21235237
GRCh38: 2:21012365-21012365
48 APOB NM_000384.3(APOB):c.6543del (p.Phe2181fs) DEL Pathogenic
569699 rs1558564161 GRCh37: 2:21233197-21233197
GRCh38: 2:21010325-21010325
49 APOB NM_000384.3(APOB):c.671del (p.Pro224fs) DEL Pathogenic
648832 rs1572801523 GRCh37: 2:21259994-21259994
GRCh38: 2:21037122-21037122
50 APOB NM_000384.3(APOB):c.5316del (p.Asn1772fs) DEL Pathogenic
838558 rs1663321162 GRCh37: 2:21234424-21234424
GRCh38: 2:21011552-21011552

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
12.17 LDLR APOE APOB
2
Show member pathways
11.87 LDLR APOE APOB
3
Show member pathways
11.6 LDLR APOE APOB
4
Show member pathways
11.36 APOE APOB
5
Show member pathways
11.21 LDLR APOB
6 10.76 LDLR APOE
7
Show member pathways
10.68 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 9.91 LDLR APOE APOB
2 high-density lipoprotein particle GO:0034364 9.71 APOE APOB
3 very-low-density lipoprotein particle GO:0034361 9.67 APOE APOB
4 endocytic vesicle lumen GO:0071682 9.62 APOE APOB
5 chylomicron GO:0042627 9.56 APOE APOB
6 intermediate-density lipoprotein particle GO:0034363 9.46 APOE APOB
7 clathrin-coated endocytic vesicle membrane GO:0030669 9.43 LDLR APOE APOB
8 low-density lipoprotein particle GO:0034362 9.1 LDLR APOE APOB

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.91 LDLR APOE
2 cholesterol homeostasis GO:0042632 9.91 LDLR APOE APOB
3 lipid metabolic process GO:0006629 9.9 LDLR APOE APOB
4 intermembrane lipid transfer GO:0120009 9.89 APOE APOB
5 long-term memory GO:0007616 9.88 APOE LDLR
6 cholesterol efflux GO:0033344 9.88 APOE APOB
7 cholesterol metabolic process GO:0008203 9.88 LDLR APOE APOB
8 cholesterol transport GO:0030301 9.87 LDLR APOB
9 low-density lipoprotein particle remodeling GO:0034374 9.86 APOE APOB
10 regulation of cholesterol metabolic process GO:0090181 9.85 APOE LDLR
11 low-density lipoprotein particle clearance GO:0034383 9.84 LDLR APOB
12 negative regulation of amyloid fibril formation GO:1905907 9.83 LDLR APOE
13 negative regulation of protein metabolic process GO:0051248 9.81 LDLR APOE
14 regulation of protein metabolic process GO:0051246 9.8 LDLR APOE
15 high-density lipoprotein particle clearance GO:0034384 9.76 LDLR APOE
16 lipid transport GO:0006869 9.65 LDLR APOE APOB
17 artery morphogenesis GO:0048844 9.63 LDLR APOE APOB
18 lipoprotein biosynthetic process GO:0042158 9.62 APOE APOB
19 response to caloric restriction GO:0061771 9.56 LDLR APOE
20 steroid metabolic process GO:0008202 9.54 APOB APOE LDLR
21 lipoprotein metabolic process GO:0042157 9.13 LDLR APOE APOB
22 lipoprotein catabolic process GO:0042159 9.1 LDLR APOE APOB

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

# Name GO ID Score Top Affiliating Genes
1 amyloid-beta binding GO:0001540 9.62 LDLR APOE
2 low-density lipoprotein particle receptor binding GO:0050750 9.46 APOE APOB
3 lipid transporter activity GO:0005319 9.43 APOE APOB
4 cholesterol transfer activity GO:0120020 9.26 APOE APOB
5 lipoprotein particle binding GO:0071813 8.92 LDLR APOE

Sources for Hypercholesterolemia, Familial, 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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