MCID: HYP095
MIFTS: 73

Hypercholesterolemia malady

Genetic diseases, Rare diseases, Metabolic diseases, Endocrine diseases categories
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Summaries for Hypercholesterolemia

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Genetics Home Reference:21 Hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. Too much cholesterol, however, increases a person's risk of developing heart disease.

MalaCards based summary: Hypercholesterolemia, also known as elevated cholesterol, is related to familial hypercholesterolemia and hypertension. An important gene associated with Hypercholesterolemia is ITIH4 (inter-alpha-trypsin inhibitor heavy chain family, member 4), and among its related pathways are Vitamin digestion and absorption and COPI Mediated Transport. The drugs psyllium and psyllium hydrocolloid and the compounds psyllium and sitosterol have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and liver, and related mouse phenotypes are other and vision/eye.

Wikipedia:65 Hypercholesterolemia (also spelled hypercholesterolaemia also called dyslipidemia) is the presence of... more...

Description from OMIM:46 143890

Aliases & Classifications for Hypercholesterolemia

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Hypercholesterolemia, Aliases & Descriptions:

Name: Hypercholesterolemia 21 46 44 62
 
Elevated Cholesterol 21


Classifications:



Related Diseases for Hypercholesterolemia

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Diseases in the Familial Hypercholesterolemia family:

hypercholesterolemia Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Due to Ligand-Defective Apo B Hypercholesterolemia, Familial, Due to Ldlr Defect, Modifier of

Diseases related to Hypercholesterolemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 213)
idRelated DiseaseScoreTop Affiliating Genes
1familial hypercholesterolemia32.6CETP, HMGCR, PCSK9, LDLR, APOB
2hypertension31.4APOB, APOA1, APOE, EPHX2
3familial combined hyperlipidemia31.3APOB, APOA1, HMGCR, APOE
4hypothyroidism31.1CETP, PON1, APOB
5sitosterolemia30.9HMGCR, CYP7A1
6xanthomatosis30.8ABCA1, LDLRAP1, LDLR, APOB, APOE, CYP7A1
7atherosclerosis30.8ABCA1, CYP7A1, APOE, APOA1, APOA2, APOB
8hyperlipidemia type 330.7HMGCR, CETP, LDLR, APOB, APOA1, APOE
9acute myocardial infarction30.7HMGCR, LCAT, APOA1, APOB, PON1
10fish-eye disease30.7APOA1, APOA2, LCAT
11diabetes mellitus30.7CETP, PON1, PON2, APOB, APOA2, APOA1
12glucose intolerance30.6APOB, MTTP, CYP7A1
13familial hypertriglyceridemia30.6APOA1, APOB, APOA2, APOE
14nephrotic syndrome30.6CETP, LCAT, APOE, PON1, HMGCR, APOA1
15hypertriglyceridemia30.6LDLR, PON1, APOB, APOA2, APOA1, APOE
16myocardial infarction30.6ABCA1, APOE, APOA1, APOA2, APOB, PON2
17cerebral atherosclerosis30.6APOA1
18arteriosclerosis30.5LDLR, PON1, HMGCR, APOA1, APOB
19hypoalphalipoproteinemia30.5ABCA1, APOA1, APOA2, APOB, LCAT, CETP
20arcus senilis30.5APOB, LCAT, APOA1
21essential hypertension30.4LCAT, APOA1, CETP, PON1, APOB
22obesity30.4LCAT, GHR, MTTP, CETP, LDLR, PON1
23insulin resistance30.4HMGCR, APOA1, LCAT, MTTP, GHR, APOA2
24venous thrombosis30.4HMGCR, CETP, APOB
25peripheral vascular disease30.4APOB, CETP, HMGCR, APOA1
26coronary stenosis30.4CETP, APOA1, PON1, APOB
27cholestasis30.3CYP7A1, CETP, LCAT
28alagille syndrome30.3LCAT, APOA1
29type 2 diabetes mellitus30.3APOA2, APOA1, APOE, ABCA1, APOB, PON2
30hyperglycemia30.2APOB, GHR, PON1, CETP, HMGCR
31vascular disease30.1APOA1, APOB, PON1, LDLR, CETP, LCAT
32abetalipoproteinemia30.1APOA1, APOB, CETP, MTTP, LCAT, PCSK9
33type 1 diabetes mellitus30.1CETP, LCAT, PON1, GHR, APOB, APOA1
34dementia30.0PON1, ITIH4, APOE, CETP
35diabetic nephropathy30.0APOB, APOA1, APOE, PON2, PON1, GHR
36familial hyperlipidemia30.0LCAT, CETP, LDLR, APOB, APOA2, APOA1
37alzheimer's disease29.9LDLR, PON1, HMGCR, CETP, APOE, ABCA1
38cerebrovascular disease29.8APOE, PON1, HMGCR, ABCA1, CETP, LDLR
39endotheliitis10.7
40artery disease10.6
41chylomicron retention disease10.6APOB
42lipoprotein glomerulopathy10.6APOE
43blindness10.5
44defective apolipoprotein b-10010.5
45carotid artery disease10.5PON1, APOB
46age related macular degeneration10.4APOB, APOE
47stroke, hemorrhagic10.4APOE, HMGCR
48complete lcat deficiency10.4APOA1, LCAT, APOA2
49amyloidosis, renal10.4APOA2, APOA1
50amyloid tumor10.4APOA2, APOE, ABCA1

Graphical network of the top 20 diseases related to Hypercholesterolemia:



Diseases related to hypercholesterolemia

Symptoms for Hypercholesterolemia

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Clinical features from OMIM:

143890

Drugs & Therapeutics for Hypercholesterolemia

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Genetic Tests for Hypercholesterolemia

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Anatomical Context for Hypercholesterolemia

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MalaCards organs/tissues related to Hypercholesterolemia:

32
Heart, Endothelial, Liver, Testes, Monocytes, Brain, Kidney, Smooth muscle, Thyroid, Breast, Bone, Whole blood, Skin, T cells, Bone marrow, Adipocyte, Lung, Placenta, Prostate, Pituitary

Animal Models for Hypercholesterolemia or affiliated genes

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MGI Mouse Phenotypes related to Hypercholesterolemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539510.0ABCA1, APOE, APOA2, LDLR
2MP:00053919.6PPP1R17, CYP7A1, APOE, APOB, LDLR, LCAT
3MP:00053789.4CYP7A1, APOE, APOA2, APOB, LDLR, MTTP
4MP:00053979.3ABCA1, APOE, APOA1, PON2, LDLR, MTTP
5MP:00053799.3ABCA1, APOE, APOA1, LDLR, GHR, LCAT
6MP:00053849.2ABCA1, APOE, APOA1, PON2, PON1, LDLR
7MP:00053709.1PCSK9, ABCA1, CYP7A1, APOE, APOA1, APOB
8MP:00053859.0ABCA1, APOE, APOA1, APOB, PON2, PON1
9MP:00053768.5APOB, APOA2, APOA1, APOE, CYP7A1, ABCA1

Publications for Hypercholesterolemia

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Articles related to Hypercholesterolemia:

(show top 50)    (show all 1774)
idTitleAuthorsYear
1
Induction of Sustained Hypercholesterolemia by Single Adeno-Associated Virus-Mediated Gene Transfer of Mutant hPCSK9. (25341796)
2014
2
Hypoplastic aorta in a patient with familial hypercholesterolemia. (24287364)
2013
3
LDL-cholesterol-lowering effect of a dietary supplement with plant extracts in subjects with moderate hypercholesterolemia. (22527287)
2013
4
Apolipoprotein E gene polymorphisms in Lebanese with hypercholesterolemia. (23537987)
2013
5
The impact of severe LDL receptor mutations on SREBP-pathway regulation in homozygous familial hypercholesterolemia (FH). (22425645)
2012
6
Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia. (20172523)
2010
7
Increased oxidative stress levels and normal antioxidant enzyme activity in circulating mononuclear cells from patients of familial hypercholesterolemia. (19800085)
2010
8
HDL cholesterol levels in children with mild hypercholesterolemia: effect of consuming skim milk enriched with olive oil and modulation by the TAQ 1B polymorphism in the CETP gene. (20413969)
2010
9
Relationships between metabolic syndrome and other baseline factors and the efficacy of ezetimibe/simvastatin and atorvastatin in patients with type 2 diabetes and hypercholesterolemia. (20150290)
2010
10
Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia. (20663204)
2010
11
Pharmacologic inhibition of squalene synthase and other downstream enzymes of the cholesterol synthesis pathway: a new therapeutic approach to treatment of hypercholesterolemia. (19367148)
2009
12
Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period. (19232506)
2009
13
Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa. (17765244)
2008
14
Familial hypercholesterolemia: current treatment and advances in management. (18402545)
2008
15
CYP3A53A allele is associated with reduced lowering-lipid response to atorvastatin in individuals with hypercholesterolemia. (18727922)
2008
16
Gender influence on postprandial lipemia in heterozygotes for familial hypercholesterolemia. (18000290)
2007
17
Prothrombotic effects of hyperhomocysteinemia and hypercholesterolemia in ApoE-deficient mice. (17082485)
2007
18
Structural and biophysical studies of PCSK9 and its mutants linked to familial hypercholesterolemia. (17435765)
2007
19
Severe hypercholesterolemia associated with decreased hepatic triglyceride lipase activity and pseudohyponatremia in patients after allogeneic stem cell transplantation. (16298832)
2005
20
Autosomal recessive hypercholesterolemia in three sisters with phenotypic homozygous familial hypercholesterolemia: diagnostic and therapeutic procedures. (15274677)
2004
21
Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9. (15166014)
2004
22
Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia]. (15497035)
2004
23
Lipid-altering changes and pleiotropic effects of atorvastatin in patients with hypercholesterolemia. (15325939)
2004
24
Clinical features and genetic analysis of autosomal recessive hypercholesterolemia. (12788851)
2003
25
Autosomal recessive hypercholesterolemia protein interacts with and regulates the cell surface level of Alzheimer's amyloid beta precursor protein. (12805363)
2003
26
Molecular mechanisms of autosomal recessive hypercholesterolemia. (12417523)
2002
27
Effect of hydrogenated and saturated, relative to polyunsaturated, fat on immune and inflammatory responses of adults with moderate hypercholesterolemia. (11893781)
2002
28
Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1. (12464675)
2002
29
Upregulation of CD40 and CD40 ligand (CD154) in patients with moderate hypercholesterolemia. (11705814)
2001
30
A double-blind trial on the effects of atorvastatin on glycemic control in Japanese diabetic patients with hypercholesterolemia. (11580908)
2001
31
Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer. (10735626)
2000
32
The influence of angiotensin-converting enzyme inhibitors on collagen content of the aorta wall in experimental hypercholesterolemia]. (10800584)
1999
33
Flow cytometric assessment of LDL receptor activity in peripheral blood mononuclear cells compared to gene mutation detection in diagnosis of heterozygous familial hypercholesterolemia. (10331627)
1999
34
Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease. (9867529)
1998
35
Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. (10206683)
1998
36
Pregnancy in patient with familial hypercholesterolemia and atherosclerosis disease]. (9435357)
1997
37
Molecular genetics of familial hypercholesterolemia in Israel. (8882879)
1996
38
Evaluation of double filtration plasmapheresis, thermofiltration, and low-density lipoprotein adsorptive methods by crossover test in the treatment of familial hypercholesterolemia patients. (8860710)
1996
39
Effectiveness, tolerance and safety of simvastatin in comparison with bezafibrate in treatment of hypercholesterolemia]. (8560901)
1995
40
An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia. (7635461)
1995
41
Update on the treatment of hypercholesterolemia, with a focus on HMG-CoA reductase inhibitors and combination regimens. (7664504)
1995
42
Overexpression of human lipoprotein lipase in transgenic mice. Resistance to diet-induced hypertriglyceridemia and hypercholesterolemia. (8349676)
1993
43
Effects of probucol and pravastatin on plasma lipids, activities of postheparin lipoprotein lipase, and lecithin cholesterol acyltransferase and apo A-I containing lipoproteins with and without apo A-II in patients with moderate hypercholesterolemia. (8485855)
1993
44
Vitamin A in hypercholesterolemia. (1642248)
1992
45
Contribution of molecular biology to the diagnosis of familial hypercholesterolemias in children]. (1347990)
1992
46
Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels. (1315570)
1992
47
A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. (1867200)
1991
48
Familial hypercholesterolemia in a rhesus monkey pedigree: molecular basis of low density lipoprotein receptor deficiency. (2326270)
1990
49
Pharmacokinetics and pharmacodynamics of pravastatin alone and with cholestyramine in hypercholesterolemia. (2116260)
1990
50
Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia. (2544509)
1989

Variations for Hypercholesterolemia

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UniProtKB/Swiss-Prot genetic disease variations for Hypercholesterolemia:

64 (show all 91)
id Symbol AA change Variation ID SNP ID
1LDLRp.Arg78CysVAR_005307
2LDLRp.Trp87GlyVAR_005308
3LDLRp.Cys89TyrVAR_005309
4LDLRp.Asp90AsnVAR_005311
5LDLRp.Asp90TyrVAR_005312
6LDLRp.Gln92GluVAR_005313
7LDLRp.Cys95GlyVAR_005314
8LDLRp.Glu101LysVAR_005315
9LDLRp.Cys116ArgVAR_005317
10LDLRp.Glu140LysVAR_005318
11LDLRp.Cys160TyrVAR_005320
12LDLRp.Asp168HisVAR_005321
13LDLRp.Asp168AsnVAR_005322
14LDLRp.Asp168TyrVAR_005323
15LDLRp.Cys173TrpVAR_005325
16LDLRp.Asp175AsnVAR_005326
17LDLRp.Ser177LeuVAR_005327
18LDLRp.Cys197ArgVAR_005330
19LDLRp.Asp221GlyVAR_005332
20LDLRp.Asp221TyrVAR_005333
21LDLRp.Asp224ValVAR_005336
22LDLRp.Asp227GluVAR_005338
23LDLRp.Glu228LysVAR_005341
24LDLRp.Cys231GlyVAR_005342
25LDLRp.Cys248TyrVAR_005345
26LDLRp.Cys276TyrVAR_005349
27LDLRp.Glu277LysVAR_005350rs148698650
28LDLRp.Asp301AlaVAR_005352
29LDLRp.Cys302TyrVAR_005353
30LDLRp.Cys302TrpVAR_005354
31LDLRp.Cys313TyrVAR_005358
32LDLRp.Cys318PheVAR_005360
33LDLRp.His327TyrVAR_005361
34LDLRp.Cys329TyrVAR_005362
35LDLRp.Cys338SerVAR_005364
36LDLRp.Asp342AsnVAR_005366rs139361635
37LDLRp.Arg350ProVAR_005368
38LDLRp.Cys368ArgVAR_005374
39LDLRp.Ala399AspVAR_005376
40LDLRp.Leu414ArgVAR_005379
41LDLRp.Arg416GlnVAR_005380
42LDLRp.Arg416TrpVAR_005381
43LDLRp.Ile423ThrVAR_005382
44LDLRp.Val429MetVAR_005383rs28942078
45LDLRp.Ala431ThrVAR_005384rs28942079
46LDLRp.Asp433HisVAR_005385
47LDLRp.Asp482HisVAR_005391
48LDLRp.Trp483ArgVAR_005392
49LDLRp.Asn564HisVAR_005399rs28942086
50LDLRp.Asn564SerVAR_005400
51LDLRp.Asp579AsnVAR_005402
52LDLRp.Gly592GluVAR_005403
53LDLRp.Arg633CysVAR_005405
54LDLRp.Pro649LeuVAR_005406
55LDLRp.Cys667TyrVAR_005407rs28942083
56LDLRp.Cys677ArgVAR_005408
57LDLRp.Pro685LeuVAR_005410rs28942084
58LDLRp.Asp700GluVAR_005412
59LDLRp.Val797MetVAR_005415
60LDLRp.Tyr828CysVAR_005419rs28942085
61LDLRp.Ala50SerVAR_007979rs137853960
62LDLRp.Ser56ProVAR_007980
63LDLRp.Asp175TyrVAR_007981
64LDLRp.Asp221AsnVAR_007982
65LDLRp.Glu288LysVAR_007983
66LDLRp.Asp356TyrVAR_007984
67LDLRp.Gln366ArgVAR_007985
68LDLRp.Cys379TyrVAR_007986
69LDLRp.Leu401ValVAR_007987
70LDLRp.Leu432ValVAR_007988
71LDLRp.Pro608SerVAR_007989
72LDLRp.Phe403LeuVAR_008995
73LDLRp.Leu568ValVAR_008996
74LDLRp.Glu714LysVAR_008997
75LDLRp.Cys46SerVAR_013949
76LDLRp.Cys184TyrVAR_013951
77LDLRp.Cys261PheVAR_013953
78LDLRp.Cys134PheVAR_062371
79LDLRp.Cys134TrpVAR_062372
80LDLRp.Cys222TyrVAR_062373
81LDLRp.Gln254ProVAR_062374
82LDLRp.Cys276ArgVAR_062375
83LDLRp.Cys318ArgVAR_062376
84LDLRp.Cys358TyrVAR_062377
85LDLRp.Asn370ThrVAR_062378
86LDLRp.Asp415GlyVAR_062379
87LDLRp.Ile451ThrVAR_062380
88LDLRp.Leu479ProVAR_062381
89LDLRp.Asp579TyrVAR_062382
90LDLRp.Pro826SerVAR_062383
91LDLRp.Cys329PheVAR_067196

Clinvar genetic disease variations for Hypercholesterolemia:

6 (show all 80)
id Gene Name Type Significance SNP ID Assembly Location
1EPHX2NM_001979.5(EPHX2): c.860G> A (p.Arg287Gln)single nucleotide variantrisk factorrs751141GRCh37Chr 8, 27373865: 27373865
2APOBNM_000384.2(APOB): c.10580G> A (p.Arg3527Gln)single nucleotide variantPathogenicrs5742904GRCh37Chr 2, 21229160: 21229160
3APOBNM_000384.2(APOB): c.10672C> T (p.Arg3558Cys)single nucleotide variantPathogenicrs12713559GRCh37Chr 2, 21229068: 21229068
4APOA2APOA2, -265T-Csingle nucleotide variantrisk factor
5LDLRNM_000527.4(LDLR): c.2140+86C> Gsingle nucleotide variantPathogenicGRCh38Chr 19, 11120608: 11120608
6LDLRNM_000527.4(LDLR): c.1055G> A (p.Cys352Tyr)single nucleotide variantLikely pathogenicrs193922566GRCh37Chr 19, 11221442: 11221442
7LDLRNM_000527.4(LDLR): c.1085A> C (p.Asp362Ala)single nucleotide variantLikely pathogenicrs138315511GRCh37Chr 19, 11222214: 11222214
8LDLRNM_000527.4(LDLR): c.1222G> A (p.Glu408Lys)single nucleotide variantPathogenicrs137943601GRCh37Chr 19, 11223989: 11223989
9LDLRNM_000527.4(LDLR): c.1291G> C (p.Ala431Pro)single nucleotide variantLikely pathogenicrs28942079GRCh37Chr 19, 11224058: 11224058
10LDLRNM_000527.4(LDLR): c.1358+2T> Asingle nucleotide variantPathogenicrs193922567GRCh37Chr 19, 11224127: 11224127
11LDLRNM_000527.4(LDLR): c.1381G> A (p.Gly461Ser)single nucleotide variantLikely pathogenicrs193922568GRCh37Chr 19, 11224233: 11224233
12LDLRNM_000527.4(LDLR): c.1978C> T (p.Gln660Ter)single nucleotide variantLikely pathogenicrs193922569GRCh37Chr 19, 11230900: 11230900
13LDLRNM_000527.4(LDLR): c.2113G> C (p.Ala705Pro)single nucleotide variantLikely pathogenicrs193922570GRCh37Chr 19, 11231171: 11231171
14LDLRNM_000527.4(LDLR): c.2479G> A (p.Val827Ile)single nucleotide variantLikely pathogenicrs137853964GRCh37Chr 19, 11240278: 11240278
15LDLRNM_000527.4(LDLR): c.362G> A (p.Cys121Tyr)single nucleotide variantLikely pathogenicrs193922571GRCh37Chr 19, 11215944: 11215944
16LDLRNM_000527.4(LDLR): c.97C> T (p.Gln33Ter)single nucleotide variantPathogenicrs121908024GRCh37Chr 19, 11210928: 11210928
17LDLRNM_000527.4(LDLR): c.137_142delGCGATG (p.Asp47_Gly48del)deletionPathogenicrs387906301GRCh37Chr 19, 11210968: 11210973
18LDLRNM_000527.4(LDLR): c.259T> G (p.Trp87Gly)single nucleotide variantPathogenicrs121908025GRCh37Chr 19, 11213408: 11213408
19LDLRNM_000527.4(LDLR): c.530C> T (p.Ser177Leu)single nucleotide variantPathogenicrs121908026GRCh37Chr 19, 11216112: 11216112
20LDLRNM_000527.4(LDLR): c.652_654delGGT (p.Gly219del)deletionPathogenicrs121908027GRCh37Chr 19, 11216234: 11216236
21LDLRNM_000527.4(LDLR): c.1694G> T (p.Gly565Val)single nucleotide variantPathogenicrs28942082GRCh37Chr 19, 11226877: 11226877
22LDLRNM_000527.4(LDLR): c.2000G> A (p.Cys667Tyr)single nucleotide variantPathogenicrs28942083GRCh37Chr 19, 11231058: 11231058
23LDLRNM_000527.4(LDLR): c.681C> G (p.Asp227Glu)single nucleotide variantPathogenicrs121908028GRCh37Chr 19, 11216263: 11216263
24LDLRNM_000527.4(LDLR): c.682G> A (p.Glu228Lys)single nucleotide variantPathogenicrs121908029GRCh37Chr 19, 11216264: 11216264
25LDLRNM_000527.4(LDLR): c.910G> A (p.Asp304Asn)single nucleotide variantPathogenicrs121908030GRCh37Chr 19, 11218160: 11218160
26LDLRFH NashvilleinsertionPathogenic
27LDLRNM_000527.4(LDLR): c.1285G> A (p.Val429Met)single nucleotide variantPathogenicrs28942078GRCh37Chr 19, 11224052: 11224052
28LDLRNM_000527.4(LDLR): c.1291G> A (p.Ala431Thr)single nucleotide variantPathogenicrs28942079GRCh37Chr 19, 11224058: 11224058
29LDLRNM_000527.4(LDLR): c.1567G> A (p.Val523Met)single nucleotide variantPathogenicrs28942080GRCh37Chr 19, 11224419: 11224419
30LDLRNM_000527.4(LDLR): c.1637G> A (p.Gly546Asp)single nucleotide variantPathogenicrs28942081GRCh37Chr 19, 11226820: 11226820
31LDLRNM_000527.4(LDLR): c.1646G> A (p.Gly549Asp)single nucleotide variantPathogenicrs28941776GRCh37Chr 19, 11226829: 11226829
32LDLRNM_000527.4(LDLR): c.2043C> A (p.Cys681Ter)single nucleotide variantPathogenicrs121908031GRCh37Chr 19, 11231101: 11231101
33LDLRFH Paris 1deletionPathogenicGRCh37Chr 19, 11217145: 11217917
34LDLRFH Cape Town 2deletionPathogenic
35LDLRNM_000527.4(LDLR): c.2054C> T (p.Pro685Leu)single nucleotide variantPathogenicrs28942084GRCh37Chr 19, 11231112: 11231112
36LDLRNM_000527.4(LDLR): c.2439G> A (p.Trp813Ter)single nucleotide variantPathogenicrs121908032GRCh37Chr 19, 11240238: 11240238
37LDLRNM_000527.4(LDLR): c.2483A> G (p.Tyr828Cys)single nucleotide variantPathogenicrs28942085GRCh37Chr 19, 11240282: 11240282
38LDLRNM_000527.4(LDLR): c.2447_2450dupAGAA (p.Asn817Lysfs)duplicationPathogenicrs387906302GRCh37Chr 19, 11240246: 11240249
39LDLRNM_000527.4(LDLR): c.670G> A (p.Asp224Asn)single nucleotide variantPathogenicrs387906303GRCh37Chr 19, 11216252: 11216252
40LDLRLDLR, EX2-8DUPduplicationPathogenic
41LDLRFH Paris 2duplicationPathogenic
42LDLRNM_000527.4: c.-11807_67+3980deldeletionPathogenicGRCh38Chr 19, 11077775: 11093595
43LDLRFH French Canadian 5deletionPathogenic
44LDLRNG_009060.1: g.39215_47749deldeletionPathogenicGRCh38Chr 19, 11123595: 11132129
45LDLRFH Vancouver 4deletionPathogenic
46LDLRFH Vancouver 3deletionPathogenic
47LDLRFH London 1deletionPathogenic
48LDLRFH London 2deletionPathogenic
49LDLRFH Osaka 2deletionPathogenicGRCh37Chr 19, 11221006: 11232481
50LDLRFH Vancouver 2deletionPathogenic
51LDLRFH Vancouver 6deletionPathogenic
52LDLRFH ReykjavikdeletionPathogenic
53LDLRFH Tonami 1deletionPathogenic
54LDLRFH Tsukuba 2deletionPathogenic
55LDLRLDLR, EX17-18DELdeletionPathogenic
56LDLRFH Leiden 3deletionPathogenic
57LDLRFH PotenzadeletionPathogenicGRCh38Chr 19, 11120137: 11124406
58LDLRFH Bologna 2duplicationPathogenic
59LDLRNM_000527.4(LDLR): c.523G> A (p.Asp175Asn)single nucleotide variantPathogenicrs121908033GRCh37Chr 19, 11216105: 11216105
60LDLRNM_000527.4(LDLR): c.564C> G (p.Tyr188Ter)single nucleotide variantPathogenicrs121908034GRCh37Chr 19, 11216146: 11216146
61LDLRFH PaviadeletionPathogenic
62LDLRNM_000527.4(LDLR): c.925_931delCCCATCA (p.Pro309Lysfs)deletionPathogenicrs387906304GRCh37Chr 19, 11218175: 11218181
63LDLRNM_000527.4(LDLR): c.693C> A (p.Cys231Ter)single nucleotide variantPathogenicrs121908035GRCh37Chr 19, 11216275: 11216275
64LDLRNM_000527.4(LDLR): c.680_681delAC (p.Asp227Glyfs)deletionPathogenicrs387906305GRCh37Chr 19, 11216262: 11216263
65LDLRNM_000527.4(LDLR): c.1297G> C (p.Asp433His)single nucleotide variantPathogenicrs121908036GRCh37Chr 19, 11224064: 11224064
66LDLRNM_000527.4(LDLR): c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp)duplicationPathogenicrs387906306GRCh37Chr 19, 11216263: 11216264
67LDLRNM_000527.4(LDLR): c.2531G> A (p.Gly844Asp)single nucleotide variantPathogenicrs121908037GRCh37Chr 19, 11240330: 11240330
68LDLRNM_000527.4(LDLR): c.1202T> A (p.Leu401His)single nucleotide variantPathogenicrs121908038GRCh37Chr 19, 11223969: 11223969
69LDLRNM_000527.4(LDLR): c.313+1G> Asingle nucleotide variantPathogenicrs112029328GRCh37Chr 19, 11213463: 11213463
70LDLRNM_000527.4(LDLR): c.694+2T> Csingle nucleotide variantPathogenicrs200238879GRCh37Chr 19, 11216278: 11216278
71LDLRNM_000527.4(LDLR): c.551G> A (p.Cys184Tyr)single nucleotide variantPathogenicrs121908039GRCh37Chr 19, 11216133: 11216133
72LDLRNM_000527.4(LDLR): c.782G> T (p.Cys261Phe)single nucleotide variantPathogenicrs121908040GRCh37Chr 19, 11217328: 11217328
73LDLRNM_000527.4(LDLR): c.131G> A (p.Trp44Ter)single nucleotide variantPathogenicrs267607213GRCh37Chr 19, 11210962: 11210962
74LDLRNM_000527.4(LDLR): c.137G> C (p.Cys46Ser)single nucleotide variantPathogenicrs121908041GRCh37Chr 19, 11210968: 11210968
75LDLRNM_000527.4(LDLR): c.326G> C (p.Cys109Ser)single nucleotide variantPathogenicrs121908042GRCh37Chr 19, 11215908: 11215908
76LDLRNM_000527.4(LDLR): c.2140+1G> Asingle nucleotide variantPathogenicGRCh38Chr 19, 11120523: 11120523
77LDLRNM_000527.4(LDLR): c.-138delTdeletionPathogenicrs387906307GRCh37Chr 19, 11200087: 11200087
78LDLRNM_000527.4(LDLR): c.1216C> A (p.Arg406=)single nucleotide variantPathogenicrs121908043GRCh37Chr 19, 11223983: 11223983
79LDLRNM_000527.4(LDLR): c.621C> T (p.Gly207=)single nucleotide variantPathogenicrs121908044GRCh37Chr 19, 11216203: 11216203
80GHRNM_000163.4(GHR): c.1630A> C (p.Ile544Leu)single nucleotide variantrisk factorrs6180GRCh37Chr 5, 42719239: 42719239

Expression for genes affiliated with Hypercholesterolemia

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Expression patterns in normal tissues for genes affiliated with Hypercholesterolemia

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Pathways for genes affiliated with Hypercholesterolemia

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Pathways related to Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2APOB, APOA1
2
Show member pathways
10.2CETP, ABCA1
310.1PON1, PON2
410.1CYP7A1, LDLR, HMGCR
510.1HMGCR, LDLR, ABCA1
6
Show member pathways
fatty acid beta-oxidation VI (peroxisome)37
10.1CYP7A1, APOA1, APOA2
710.0ABCA1, APOA1, APOA2
8
Show member pathways
10.0APOB, APOA1, APOE
9
Show member pathways
Vitamin B12 Metabolism37
10.0APOA1, APOE, ABCA1
10
Show member pathways
thioredoxin pathway37
9.9ABCA1, APOA1, APOB, LDLR
119.9ABCA1, APOA1, APOA2, APOB
12
Show member pathways
9.9MTTP, APOB, APOA1, ABCA1
13
Show member pathways
9.8APOE, APOA1, APOA2, APOB, LDLR
14
Show member pathways
9.8ABCA1, CYP7A1, APOA1, APOA2, HMGCR
15
Show member pathways
9.0MTTP, CETP, LDLRAP1, LDLR, APOB, APOA2
16
Show member pathways
8.9HMGCR, ABCA1, LCAT, MTTP, CETP, LDLR
17
Show member pathways
8.3APOB, APOA2, APOA1, APOE, CYP7A1, ABCA1

Compounds for genes affiliated with Hypercholesterolemia

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Compounds related to Hypercholesterolemia according to GeneCards/GeneDecks:

(show top 50)    (show all 164)
idCompoundScoreTop Affiliating Genes
1psyllium4410.2LCAT, APOB, CETP, LDLR, HMGCR
2sitosterol4410.2APOE, HMGCR, APOB, CYP7A1
324s-hydroxy-cholesterol4410.1HMGCR, APOE, CYP7A1, ABCA1
4cholestyramine4410.1APOE, APOB, LDLR, CETP, HMGCR, CYP7A1
5dimyristoylphosphatidylcholine4410.1APOA2, LDLR, LCAT, APOE, APOA1
6ciprofibrate44 2811.1EPHX2, APOA1, APOB, HMGCR, LDLR, PON1
7campesterol44 2411.0HMGCR, APOB, APOE, APOA1
87-ketocholesterol44 2411.0PON1, APOB, APOA1, APOE, HMGCR
9rosuvastatin44 50 28 1113.0APOB, LDLR, CETP, HMGCR, APOE, APOA1
10intralipid4410.0APOE, LCAT, APOA1, APOA2, CETP, APOB
113-hydroxy-3-methylglutaryl-coa44 2411.0ABCA1, CYP7A1, HMGCR, LDLR, MTTP
12mspi449.9CETP, APOA1, LDLR, APOB, APOA2
13oleic acid44 28 24 1112.9CETP, LDLR, MTTP, APOB, CYP7A1, ABCA1
14lathosterol44 2410.9MTTP, CYP7A1, APOE, APOB, LDLR, CETP
15ezetimibe44 1110.9ABCA1, APOA1, APOB, LDLR, CETP, MTTP
16niacin44 1110.9HMGCR, MTTP, CETP, LDLR, APOB, APOA1
17lomitapide50 1110.8LDLR, MTTP, PCSK9, APOB
18fluvastatin44 50 28 1112.8APOE, APOB, PON1, LDLR, HMGCR, CETP
19palmitate449.8GHR, LCAT, CETP, LDLR, APOB, APOA1
20lovastatin44 50 61 28 1113.8APOE, APOA1, APOB, LDLR, PON1, CETP
21lactacystin449.8MTTP, HMGCR, APOE, APOB, GHR, ABCA1
22triacylglycerol449.8APOE, APOA1, APOA2, APOB, LDLR, CETP
23probucol44 1110.8ABCA1, APOE, APOA1, APOB, LDLR, CETP
24gemfibrozil28 44 1111.8APOE, APOA1, APOA2, APOB, PON1, LDLR
25thyroxine44 2410.7HMGCR, APOE, APOB, PON1, APOA1, LDLR
26aspirin44 50 28 2412.7APOB, APOA1, PON1, CETP, HMGCR, LDLR
27vitamin a44 24 1111.6APOA1, LCAT, CETP, LDLR, PON1, APOB
28alpha tocopherol449.6ABCA1, APOE, APOA1, APOB, PON1, LDLR
29heparin44 28 24 1112.5CETP, LDLR, APOE, APOB, PON1, APOA2
30fenofibrate44 50 1111.5ABCA1, APOE, APOA1, APOA2, APOB, PON1
31glutamine449.5GHR, PON1, EPHX2, APOE, APOA2, APOB
32bezafibrate44 28 1111.5ABCA1, CYP7A1, APOE, APOA1, APOA2, APOB
33fatty acid449.4GHR, LCAT, CETP, LDLR, ABCA1, APOA2
34simvastatin44 50 61 28 24 1114.4ABCA1, APOE, APOA1, APOB, PON1, LDLR
35testosterone44 61 24 1112.4LDLR, APOE, GHR, CETP, EPHX2, PON1
36sterol449.3APOA1, APOB, LDLR, CETP, MTTP, LCAT
37alanine449.3LDLR, PON1, LCAT, CETP, GHR, ITIH4
38arginine449.3APOE, EPHX2, PON1, APOA2, GHR, CETP
39phospholipid449.3APOA1, APOA2, APOB, PON2, PON1, LDLR
40pravastatin44 50 28 24 1113.3HMGCR, LCAT, ABCA1, CYP7A1, APOE, APOA1
41dexamethasone44 50 28 1112.3APOB, GHR, EPHX2, LDLR, LCAT, APOA1
42phosphatidylcholine449.2LCAT, MTTP, CETP, LDLR, PON1, APOB
43atorvastatin44 50 28 24 1113.2PON1, LDLR, CETP, MTTP, LCAT, HMGCR
44cysteine449.2HMGCR, LCAT, GHR, ITIH4, MTTP, PON1
45cholesterol ester449.1ABCA1, CYP7A1, APOE, APOA1, APOA2, APOB
46estrogen449.1CETP, APOA1, APOE, MTTP, GHR, APOA2
47ascorbic acid44 2410.1LDLR, PON1, LCAT, APOE, APOA1, EPHX2
48serine448.9EPHX2, PON1, APOB, APOA2, APOA1, APOE
49lipid448.8CYP7A1, LDLR, PCSK9, HMGCR, ABCA1, APOE
50cholesterol44 28 24 1111.6ABCA1, CYP7A1, APOE, APOA1, APOA2, APOB

GO Terms for genes affiliated with Hypercholesterolemia

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Cellular components related to Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1chylomicronGO:04262710.3APOE, APOA2, APOB
2intermediate-density lipoprotein particleGO:03436310.3APOB, APOE
3low-density lipoprotein particleGO:03436210.3LDLR, APOB, APOE
4spherical high-density lipoprotein particleGO:03436610.3PON1, APOA2, APOA1
5extrinsic component of external side of plasma membraneGO:03123210.2APOE, PCSK9
6endocytic vesicle lumenGO:07168210.2APOE, APOA1, APOB
7very-low-density lipoprotein particleGO:03436110.2APOE, APOA1, APOA2, APOB
8late endosomeGO:00577010.1PCSK9, LDLR, APOE
9endoplasmic reticulum lumenGO:00578810.1APOA1, APOA2, APOB, MTTP
10blood microparticleGO:07256210.0APOE, APOA1, APOA2, PON1, ITIH4
11receptor complexGO:04323510.0LDLR, MTTP, GHR
12early endosomeGO:0057699.9APOE, APOA1, APOA2, APOB, LDLR, LDLRAP1
13high-density lipoprotein particleGO:0343649.8LCAT, CETP, PON1, APOA2, APOA1, APOE
14Golgi apparatusGO:0057949.8PCSK9, MTTP, LDLR, APOB, APOE, ABCA1
15cell surfaceGO:0099869.7PCSK9, GHR, LDLR, ABCA1
16extracellular vesicular exosomeGO:0700629.7APOA1, APOA2, EPHX2, CETP, ITIH4, APOE
17extracellular spaceGO:0056159.5APOE, APOA1, APOB, PON1, CETP, GHR
18extracellular regionGO:0055769.3APOE, APOA1, APOA2, APOB, PON2, PON1

Biological processes related to Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 45)
idNameGO IDScoreTop Affiliating Genes
1cholesterol importGO:07050810.5APOA1, LDLR
2negative regulation of lipase activityGO:06019210.5APOA1, APOA2
3negative regulation of very-low-density lipoprotein particle remodelingGO:01090310.5APOA1, APOA2
4regulation of intestinal cholesterol absorptionGO:03030010.5APOA1, APOA2
5protein oxidationGO:01815810.5APOA1, APOA2
6lipoprotein catabolic processGO:04215910.5APOE, APOB, LDLR
7negative regulation of cytokine secretion involved in immune responseGO:00274010.4APOA1, APOA2
8aromatic compound catabolic processGO:01943910.4PON2, PON1
9peptidyl-methionine modificationGO:01820610.4APOA1, APOA2
10peripheral nervous system axon regenerationGO:01401210.4APOE, APOA1
11high-density lipoprotein particle clearanceGO:03438410.4APOA2, APOA1, APOE
12low-density lipoprotein particle clearanceGO:03438310.4APOB, LDLR
13protein lipidationGO:00649710.4ABCA1, MTTP
14positive regulation of cholesterol esterificationGO:01087310.4APOE, APOA1, APOA2
15regulation of Cdc42 protein signal transductionGO:03248910.4ABCA1, APOE, APOA1
16phospholipid homeostasisGO:05509110.4CETP, APOA1, ABCA1
17very-low-density lipoprotein particle remodelingGO:03437210.4APOE, CETP, LCAT
18phosphatidylcholine biosynthetic processGO:00665610.4LCAT, APOA2, APOA1
19cellular response to cholesterolGO:07139710.4ABCA1, CYP7A1, APOE
20low-density lipoprotein particle remodelingGO:03437410.3APOE, APOA2, APOB, CETP
21positive regulation of cholesterol effluxGO:01087510.3PON1, APOE, ABCA1
22phosphatidylcholine metabolic processGO:04647010.3PON1, CETP
23high-density lipoprotein particle assemblyGO:03438010.3ABCA1, APOE, APOA1, APOA2
24phospholipid effluxGO:03370010.3APOA2, APOA1, APOE, ABCA1
25cholesterol catabolic processGO:00670710.3APOE, CYP7A1
26lipoprotein biosynthetic processGO:04215810.3APOE, APOA1, APOB, LCAT
27negative regulation of macrophage derived foam cell differentiationGO:01074510.2CETP, ABCA1
28response to nutrientGO:00758410.2HMGCR, APOA1, ABCA1
29retinoid metabolic processGO:00152310.2LDLR, APOB, APOA2, APOA1, APOE
30receptor-mediated endocytosisGO:00689810.2APOE, APOB, LDLR, LDLRAP1, CETP
31phototransduction, visible lightGO:00760310.2APOE, APOA1, APOA2, APOB, LDLR
32cholesterol transportGO:03030110.2APOA1, APOB, LDLR, CETP, LCAT
33artery morphogenesisGO:04884410.2APOB, APOE
34cholesterol effluxGO:03334410.2ABCA1, APOE, APOA1, APOA2, APOB
35lipoprotein transportGO:04295310.2APOB, MTTP
36triglyceride metabolic processGO:00664110.2APOE, APOA2, CETP, MTTP, PCSK9
37high-density lipoprotein particle remodelingGO:03437510.1APOE, APOA1, APOA2, CETP, LCAT
38cellular lipid metabolic processGO:04425510.1ABCA1, CYP7A1, APOA1, APOA2, HMGCR
39phospholipid transportGO:01591410.1CETP, LDLR
40reverse cholesterol transportGO:04369110.0ABCA1, APOE, APOA1, APOA2, CETP, LCAT
41triglyceride homeostasisGO:0703289.9CETP, APOA1
42cholesterol metabolic processGO:0082039.5APOB, APOA2, APOA1, APOE, ABCA1, LDLR
43lipoprotein metabolic processGO:0421579.5ABCA1, PCSK9, LCAT, MTTP, CETP, LDLR
44small molecule metabolic processGO:0442819.2APOA2, APOA1, APOE, CYP7A1, ABCA1, APOB
45cholesterol homeostasisGO:0426329.1PCSK9, LCAT, MTTP, CETP, LDLRAP1, LDLR

Molecular functions related to Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particle receptor bindingGO:07065310.4APOA1, APOA2
2apolipoprotein receptor bindingGO:03419010.4APOA1, APOA2, PCSK9
3apolipoprotein A-I bindingGO:03418610.4ABCA1, LCAT
4phosphatidylcholine-sterol O-acyltransferase activator activityGO:06022810.3APOA2, APOA1, APOE
5very-low-density lipoprotein particle receptor bindingGO:07032610.3PCSK9, APOE
6phospholipid transporter activityGO:00554810.3ABCA1, APOA1, CETP
7arylesterase activityGO:00406410.3PON1, PON2
8apolipoprotein bindingGO:03418510.3PCSK9, MTTP, ABCA1
9beta-amyloid bindingGO:00154010.3APOE, APOA1, LDLRAP1
10low-density lipoprotein particle receptor bindingGO:05075010.3APOE, APOB, LDLRAP1, PCSK9
11lipase inhibitor activityGO:05510210.3APOA2, APOA1
12cholesterol bindingGO:01548510.2CETP, APOA2, APOA1, ABCA1
13high-density lipoprotein particle bindingGO:00803510.2APOA1, APOA2
14lipid transporter activityGO:00531910.2MTTP, CETP, APOA2, APOE
15phosphatidylcholine bindingGO:03121010.1CETP, APOA2
16lipid bindingGO:00828910.1MTTP, CETP, APOA2, APOE
17cholesterol transporter activityGO:01712710.0CETP, APOB, APOA2, APOA1, APOE, ABCA1
18low-density lipoprotein particle bindingGO:0301699.9PCSK9, LDLR
19phospholipid bindingGO:0055439.9ABCA1, APOE, APOA1, APOA2, APOB, PON1
20protein homodimerization activityGO:0428039.9APOE, APOA2, PON1, EPHX2, GHR, HMGCR
21identical protein bindingGO:0428029.9PCSK9, PON2, APOA1, APOE
22protein bindingGO:0055159.0APOB, APOA2, APOA1, APOE, ABCA1, LDLR

Products for genes affiliated with Hypercholesterolemia

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  • Antibodies
  • Proteins
  • Lysates

Sources for Hypercholesterolemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet