MCID: HYP095
MIFTS: 70

Hypercholesterolemia malady

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

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21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
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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: 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 sitosterol and 24s-hydroxy-cholesterol have been mentioned in the context of this disorder. Affiliated tissues include endothelial, heart 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:47 143890

Aliases & Classifications for Hypercholesterolemia

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21Genetics Home Reference, 47OMIM, 45Novoseek, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases


Aliases & Descriptions:

hypercholesterolemia 21 47 45 62
elevated cholesterol 21


Related Diseases for Hypercholesterolemia

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17GeneCards, 18GeneDecks
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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 212)
idRelated DiseaseScoreTop Affiliating Genes
1familial hypercholesterolemia32.0HMGCR, PCSK9, APOB, LDLR, CETP
2hypertension30.9EPHX2, COG2, APOB, APOE, APOA1
3coronary artery disease30.7APOA1, APOB, LDLR, CETP, PON1, COG2
4familial combined hyperlipidemia30.7HMGCR, APOB, APOE, APOA1
5atherosclerosis30.6LDLR, EPHX2, PON1, PON2, APOB, APOA2
6hypothyroidism30.4APOB, PON1, CETP
7diabetes mellitus30.4ABCA1, APOE, HMGCR, COG2, LCAT, CETP
8hypertriglyceridemia30.3HMGCR, COG2, LCAT, MTTP, CETP, LDLR
9sitosterolemia30.3HMGCR, CYP7A1
10obesity30.3APOE, ABCA1, COG2, LCAT, MTTP, CETP
11myocardial infarction30.2PON2, HMGCR, COG2, LCAT, CETP, LDLR
12xanthomatosis30.2ABCA1, CYP7A1, LDLRAP1, LDLR, APOB, APOE
13insulin resistance30.1APOB, LDLR, MTTP, APOA1, CETP, LCAT
14acute myocardial infarction30.1LCAT, HMGCR, PON1, APOA1, APOB
15hyperlipidemia type 330.1APOE, APOA1, APOB, LDLR, CETP, COG2
16fish-eye disease30.1APOA1, LCAT, APOA2
17glucose intolerance30.0MTTP, CYP7A1, APOB
18hypoalphalipoproteinemia30.0LCAT, CETP, LDLR, APOB, APOA2, APOA1
19familial hypertriglyceridemia30.0APOE, APOB, APOA2, APOA1
20type 2 diabetes mellitus30.0APOE, ABCA1, APOA1, APOA2, HMGCR, COG2
21nephrotic syndrome29.9LCAT, CETP, APOA1, HMGCR, APOE, PON1
22arteriosclerosis29.9COG2, APOA1, APOB, PON1, LDLR, HMGCR
23cerebral atherosclerosis29.9APOA1
24essential hypertension29.9LCAT, APOB, CETP, APOA1, PON1
25venous thrombosis29.9APOB, CETP, HMGCR
26arcus senilis29.8APOA1, LCAT, APOB
27peripheral vascular disease29.8HMGCR, CETP, APOB, APOA1
28cholestasis29.8CYP7A1, CETP, LCAT
29alagille syndrome29.8LCAT, APOA1
30coronary stenosis29.8APOA1, APOB, PON1, CETP
31vascular disease29.7CETP, LDLR, PON1, APOB, APOA1, APOE
32hyperglycemia29.7APOB, PON1, CETP, COG2, HMGCR
33dementia29.7ITIH4, PON1, CETP, APOE
34alzheimer's disease29.7ITIH4, CETP, COG2, PON2, LDLR, PON1
35type 1 diabetes mellitus29.7APOA1, CETP, APOB, PON1, LCAT
36diabetic nephropathy29.6APOE, APOA1, APOB, PON2, PON1, HMGCR
37abetalipoproteinemia29.6APOE, APOA1, MTTP, LCAT, APOB, CETP
38cerebrovascular disease29.5ABCA1, APOE, PON2, PON1, EPHX2, LDLR
39familial hyperlipidemia29.4APOE, ABCA1, APOA1, APOA2, HMGCR, COG2
40endotheliitis10.7
41artery disease10.6
42blindness10.5
43defective apolipoprotein b-10010.5
44hepatitis10.4
45cerebritis10.3
46ischemia10.2
47supravalvular aortic stenosis10.2
48aortic atherosclerosis10.1
49cerebrotendinous xanthomatosis10.1
50chylomicron retention disease10.1APOB

Graphical network of the top 20 diseases related to Hypercholesterolemia:



Diseases related to hypercholesterolemia

Symptoms for Hypercholesterolemia

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47OMIM
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Clinical features from OMIM:

143890

Drugs & Therapeutics for Hypercholesterolemia

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Genetic Tests for Hypercholesterolemia

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Anatomical Context for Hypercholesterolemia

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33MalaCards
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MalaCards organs/tissues related to Hypercholesterolemia:

33
Endothelial, Heart, Liver, Monocytes, Testes, Brain, Kidney, Thyroid, Breast, Smooth muscle, T cells, Whole blood, Bone, Skin, Prostate, Placenta, Lung, Adipocyte, Bone marrow

Animal Models for Hypercholesterolemia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hypercholesterolemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.3ABCA1, APOE, APOA2, LDLR
2MP:00053918.3PPP1R17, CYP7A1, APOE, APOB, LDLR, LCAT
3MP:00053848.0APOE, APOA1, PON2, PON1, LDLR, MTTP
4MP:00053707.8PCSK9, ABCA1, CYP7A1, APOE, APOA1, APOB
5MP:00053857.4ABCA1, APOE, APOA1, APOB, PON2, PON1
6MP:00053766.6APOB, APOA2, APOA1, APOE, CYP7A1, ABCA1

Publications for Hypercholesterolemia

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52PubMed
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Articles related to Hypercholesterolemia:

(show top 50)    (show all 1731)
idTitleAuthorsYear
1
Hypoplastic aorta in a patient with familial hypercholesterolemia. (24287364)
2013
2
LDL-cholesterol-lowering effect of a dietary supplement with plant extracts in subjects with moderate hypercholesterolemia. (22527287)
2013
3
Apolipoprotein E gene polymorphisms in Lebanese with hypercholesterolemia. (23537987)
2013
4
The impact of severe LDL receptor mutations on SREBP-pathway regulation in homozygous familial hypercholesterolemia (FH). (22425645)
2012
5
Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia. (20172523)
2010
6
Increased oxidative stress levels and normal antioxidant enzyme activity in circulating mononuclear cells from patients of familial hypercholesterolemia. (19800085)
2010
7
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
8
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
9
Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia. (20663204)
2010
10
Pharmacologic inhibition of squalene synthase and other downstream enzymes of the cholesterol synthesis pathway: a new therapeutic approach to treatment of hypercholesterolemia. (19367148)
2009
11
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
12
Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa. (17765244)
2008
13
Familial hypercholesterolemia: current treatment and advances in management. (18402545)
2008
14
CYP3A53A allele is associated with reduced lowering-lipid response to atorvastatin in individuals with hypercholesterolemia. (18727922)
2008
15
Gender influence on postprandial lipemia in heterozygotes for familial hypercholesterolemia. (18000290)
2007
16
Prothrombotic effects of hyperhomocysteinemia and hypercholesterolemia in ApoE-deficient mice. (17082485)
2007
17
Structural and biophysical studies of PCSK9 and its mutants linked to familial hypercholesterolemia. (17435765)
2007
18
Severe hypercholesterolemia associated with decreased hepatic triglyceride lipase activity and pseudohyponatremia in patients after allogeneic stem cell transplantation. (16298832)
2005
19
Autosomal recessive hypercholesterolemia in three sisters with phenotypic homozygous familial hypercholesterolemia: diagnostic and therapeutic procedures. (15274677)
2004
20
Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9. (15166014)
2004
21
Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia]. (15497035)
2004
22
Lipid-altering changes and pleiotropic effects of atorvastatin in patients with hypercholesterolemia. (15325939)
2004
23
Clinical features and genetic analysis of autosomal recessive hypercholesterolemia. (12788851)
2003
24
Autosomal recessive hypercholesterolemia protein interacts with and regulates the cell surface level of Alzheimer's amyloid beta precursor protein. (12805363)
2003
25
Molecular mechanisms of autosomal recessive hypercholesterolemia. (12417523)
2002
26
Effect of hydrogenated and saturated, relative to polyunsaturated, fat on immune and inflammatory responses of adults with moderate hypercholesterolemia. (11893781)
2002
27
Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1. (12464675)
2002
28
Upregulation of CD40 and CD40 ligand (CD154) in patients with moderate hypercholesterolemia. (11705814)
2001
29
A double-blind trial on the effects of atorvastatin on glycemic control in Japanese diabetic patients with hypercholesterolemia. (11580908)
2001
30
Blockade of endothelin receptors reduces diet-induced hypercholesterolemia and atherosclerosis in apolipoprotein E-deficient mice. (11641611)
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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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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:

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

Expression for genes affiliated with Hypercholesterolemia

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hypercholesterolemia

Search GEO for disease gene expression data for Hypercholesterolemia.

Pathways for genes affiliated with Hypercholesterolemia

About this section
Sources:
50PathCards, 30KEGG, 55Reactome, 60Thomson Reuters, 38NCBI BioSystems Database, 12EMD Millipore, 51PharmGKB
See all sources

Pathways related to Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9APOB, APOA1
2
Show member pathways
9.9CETP, ABCA1
39.8CYP7A1, HMGCR, LDLR
49.8HMGCR, LDLR, ABCA1
59.7PON1, PON2
6
Show member pathways
fatty acid beta-oxidation VI (peroxisome)38
9.7APOA2, APOA1, CYP7A1
79.7ABCA1, APOA1, APOA2
8
Show member pathways
9.6APOA1, APOE, APOB
9
Show member pathways
Vitamin B12 Metabolism38
9.5APOE, ABCA1, APOA1
10
Show member pathways
thioredoxin pathway38
9.5APOA1, APOB, LDLR, ABCA1
119.4APOA1, ABCA1, APOB, APOA2
12
Show member pathways
9.3MTTP, APOA1, APOB, ABCA1
13
Show member pathways
9.2APOB, LDLR, APOA2, APOE, APOA1
14
Show member pathways
9.2HMGCR, APOA2, APOA1, CYP7A1, ABCA1
15
Show member pathways
7.7ABCA1, APOE, APOA1, APOB, LDLR, LDLRAP1
16
Show member pathways
7.4CETP, APOA2, MTTP, LDLR, ABCA1, CYP7A1
17
Show member pathways
6.2PON1, APOA1, APOE, CYP7A1, HMGCR, LCAT

Compounds for genes affiliated with Hypercholesterolemia

About this section
Sources:
45Novoseek, 24HMDB, 51PharmGKB, 11DrugBank, 29IUPHAR, 61Tocris Bioscience
See all sources

Compounds related to Hypercholesterolemia according to GeneCards/GeneDecks:

(show top 50)    (show all 168)
idCompoundScoreTop Affiliating Genes
1sitosterol459.6HMGCR, APOB, APOE, CYP7A1
224s-hydroxy-cholesterol459.6CYP7A1, APOE, HMGCR, ABCA1
3psyllium459.6LDLR, CETP, HMGCR, APOB, LCAT
4campesterol45 2410.5HMGCR, APOE, APOB, APOA1
5mspi459.4APOB, APOA1, APOA2, LDLR, CETP
6lomitapide51 1110.4LDLR, MTTP, PCSK9, APOB
7dimyristoylphosphatidylcholine459.3APOA1, LDLR, LCAT, APOA2, APOE
83-hydroxy-3-methylglutaryl-coa45 2410.3MTTP, HMGCR, ABCA1, LDLR, CYP7A1
9ciprofibrate45 2910.2PON1, EPHX2, HMGCR, LDLR, APOB, APOA1
107-ketocholesterol45 2410.2APOE, PON1, HMGCR, APOA1, APOB
11colestipol459.2APOA1, APOB, COG2, HMGCR
12oleic acid45 29 24 1112.1LDLR, MTTP, CETP, ABCA1, CYP7A1, APOB
13intralipid459.1APOA2, CETP, APOA1, LCAT, APOB, APOE
14lathosterol45 2410.0HMGCR, MTTP, CETP, LDLR, APOB, APOE
15retinyl palmitate45 249.7COG2, APOE, LCAT, APOB, APOA1
16probucol45 119.7LCAT, CETP, LDLR, APOB, APOA1, APOE
17cholestyramine458.6HMGCR, COG2, CETP, LDLR, APOB, APOE
18vitamin a45 24 1110.6APOE, LCAT, CETP, LDLR, APOA1, PON1
19rosuvastatin45 51 29 1111.5CETP, HMGCR, COG2, APOB, APOA1, APOE
20glutamine458.3CETP, APOE, PON1, LCAT, ITIH4, APOA2
21palmitate458.3LDLR, APOE, APOA1, CETP, APOB, COG2
22alpha tocopherol458.2LDLR, PON1, APOB, APOA1, APOE, ABCA1
23niacin45 119.2APOA1, ABCA1, APOB, LDLR, HMGCR, COG2
24ezetimibe45 119.1HMGCR, COG2, MTTP, CETP, LDLR, APOB
25fluvastatin45 51 29 1111.1LDLR, PON1, APOB, APOA1, APOE, CETP
26homocysteine45 249.1COG2, APOE, APOA1, APOB, PON1, CETP
27lovastatin45 51 61 29 1112.0APOB, APOA1, APOE, PON1, LDLR, COG2
28ascorbic acid45 249.0APOE, LCAT, CETP, LDLR, EPHX2, PON1
29thyroxine45 249.0APOB, APOE, APOA1, PON1, LDLR, CETP
30gemfibrozil29 45 119.8LDLR, PON1, APOB, APOA2, APOA1, APOE
31fatty acid457.8CETP, LCAT, APOB, COG2, ABCA1, APOA2
32triacylglycerol457.8COG2, LCAT, MTTP, CETP, LDLR, APOB
33aspirin45 51 29 2410.7APOE, PON1, APOB, ABCA1, APOA1, LDLR
34phosphatidylcholine457.5APOB, APOA2, APOE, CYP7A1, ABCA1, PON1
35arginine457.5COG2, ITIH4, CETP, APOE, LDLR, EPHX2
36heparin45 29 24 1110.5COG2, APOA2, LCAT, CETP, APOE, APOB
37bezafibrate45 29 119.4APOA1, APOE, CYP7A1, ABCA1, APOA2, APOB
38testosterone45 61 24 1110.3COG2, LCAT, CETP, LDLR, EPHX2, PON1
39serine457.3PON1, APOB, ITIH4, HMGCR, PCSK9, LCAT
40fenofibrate45 51 119.3APOA2, APOA1, APOE, ABCA1, APOB, PON1
41alanine457.2APOB, APOA1, APOE, COG2, PON1, MTTP
42sterol457.0HMGCR, PCSK9, COG2, LCAT, MTTP, CETP
43simvastatin45 51 61 29 24 1112.0LDLR, PON1, APOB, APOA1, APOE, ABCA1
44pravastatin45 51 29 24 1110.7LDLR, PON1, APOB, APOA1, APOE, CYP7A1
45estrogen456.7LCAT, CETP, LDLR, EPHX2, PON1, APOB
46atorvastatin45 51 29 24 1110.7APOB, APOA1, APOE, CYP7A1, ABCA1, PON1
47phospholipid456.7CETP, LDLR, PON1, PON2, APOB, APOA2
48cholesterol ester456.5ABCA1, CETP, LDLR, PON1, APOB, APOA2
49lipid456.0APOE, APOA1, CYP7A1, ABCA1, APOA2, APOB
50cholesterol45 29 24 118.8CETP, LDLRAP1, LDLR, PON1, PON2, APOB

GO Terms for genes affiliated with Hypercholesterolemia

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1low-density lipoprotein particleGO:0343629.9APOB, LDLR, APOE
2chylomicronGO:0426279.9APOA2, APOE, APOB
3intermediate-density lipoprotein particleGO:0343639.9APOE, APOB
4extrinsic component of external side of plasma membraneGO:0312329.8PCSK9, APOE
5endocytic vesicle lumenGO:0716829.8APOB, APOA1, APOE
6spherical high-density lipoprotein particleGO:0343669.7APOA2, APOA1, PON1
7very-low-density lipoprotein particleGO:0343619.7APOB, APOE, APOA2, APOA1
8late endosomeGO:0057709.5PCSK9, APOE, LDLR
9endoplasmic reticulum lumenGO:0057889.4MTTP, APOA1, APOA2, APOB
10blood microparticleGO:0725629.2ITIH4, APOE, APOA1, PON1, APOA2
11early endosomeGO:0057699.1LDLRAP1, APOB, APOA2, LDLR, APOA1, APOE
12Golgi apparatusGO:0057949.0ABCA1, APOE, APOB, LDLR, PCSK9, MTTP
13extracellular vesicular exosomeGO:0700628.9APOA2, APOE, EPHX2, CETP, ITIH4, APOA1
14high-density lipoprotein particleGO:0343648.8CETP, APOA2, APOA1, APOE, LCAT, PON1
15extracellular spaceGO:0056158.5APOB, CETP, LCAT, PON1, APOA1, APOE
16extracellular regionGO:0055768.0LCAT, APOB, APOA2, PON2, APOE, APOA1

Biological processes related to Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 45)
idNameGO IDScoreTop Affiliating Genes
1cholesterol importGO:07050810.3LDLR, APOA1
2negative regulation of very-low-density lipoprotein particle remodelingGO:01090310.3APOA1, APOA2
3negative regulation of lipase activityGO:06019210.3APOA2, APOA1
4low-density lipoprotein particle clearanceGO:03438310.2APOB, LDLR
5regulation of intestinal cholesterol absorptionGO:03030010.2APOA2, APOA1
6protein oxidationGO:01815810.2APOA2, APOA1
7negative regulation of cytokine secretion involved in immune responseGO:00274010.2APOA2, APOA1
8peptidyl-methionine modificationGO:01820610.2APOA1, APOA2
9lipoprotein catabolic processGO:04215910.1APOE, LDLR, APOB
10peripheral nervous system axon regenerationGO:01401210.1APOA1, APOE
11protein lipidationGO:00649710.0MTTP, ABCA1
12aromatic compound catabolic processGO:01943910.0PON1, PON2
13negative regulation of macrophage derived foam cell differentiationGO:01074510.0CETP, ABCA1
14cholesterol catabolic processGO:00670710.0CYP7A1, APOE
15high-density lipoprotein particle clearanceGO:03438410.0APOA1, APOA2, APOE
16phospholipid homeostasisGO:05509110.0CETP, ABCA1, APOA1
17positive regulation of cholesterol esterificationGO:01087310.0APOA1, APOA2, APOE
18cellular response to cholesterolGO:0713979.9CYP7A1, APOE, ABCA1
19phosphatidylcholine metabolic processGO:0464709.9PON1, CETP
20phospholipid transportGO:0159149.9LDLR, CETP
21artery morphogenesisGO:0488449.9APOE, APOB
22regulation of Cdc42 protein signal transductionGO:0324899.9ABCA1, APOE, APOA1
23phosphatidylcholine biosynthetic processGO:0066569.9APOA1, APOA2, LCAT
24very-low-density lipoprotein particle remodelingGO:0343729.9CETP, LCAT, APOE
25lipoprotein transportGO:0429539.9APOB, MTTP
26low-density lipoprotein particle remodelingGO:0343749.8APOA2, APOE, APOB, CETP
27response to nutrientGO:0075849.8APOA1, ABCA1, HMGCR
28positive regulation of cholesterol effluxGO:0108759.7APOE, PON1, ABCA1
29high-density lipoprotein particle assemblyGO:0343809.7APOA2, APOA1, APOE, ABCA1
30phospholipid effluxGO:0337009.7APOA2, APOE, ABCA1, APOA1
31receptor-mediated endocytosisGO:0068989.7CETP, APOE, APOB, LDLRAP1, LDLR
32lipoprotein biosynthetic processGO:0421589.6APOA1, APOE, LCAT, APOB
33retinoid metabolic processGO:0015239.6APOA2, APOA1, APOE, APOB, LDLR
34triglyceride homeostasisGO:0703289.6CETP, APOA1
35phototransduction, visible lightGO:0076039.6APOE, APOA1, APOA2, LDLR, APOB
36cholesterol transportGO:0303019.5LCAT, LDLR, APOB, APOA1, CETP
37cellular lipid metabolic processGO:0442559.5APOA2, APOA1, ABCA1, CYP7A1, HMGCR
38cholesterol effluxGO:0333449.5APOE, ABCA1, APOA1, APOA2, APOB
39triglyceride metabolic processGO:0066419.4PCSK9, MTTP, APOE, APOA2, CETP
40high-density lipoprotein particle remodelingGO:0343759.4LCAT, APOA2, APOA1, APOE, CETP
41reverse cholesterol transportGO:0436919.1APOA2, ABCA1, APOE, LCAT, APOA1, CETP
42cholesterol metabolic processGO:0082038.3PCSK9, LCAT, CETP, LDLRAP1, APOE, APOA1
43lipoprotein metabolic processGO:0421578.1CETP, ABCA1, MTTP, LDLR, APOA2, APOA1
44small molecule metabolic processGO:0442817.6APOE, APOA1, APOA2, EPHX2, APOB, LDLR
45cholesterol homeostasisGO:0426327.4LCAT, MTTP, CETP, LDLRAP1, LDLR, EPHX2

Molecular functions related to Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particle receptor bindingGO:07065310.2APOA2, APOA1
2very-low-density lipoprotein particle receptor bindingGO:07032610.1PCSK9, APOE
3apolipoprotein receptor bindingGO:03419010.1PCSK9, APOA1, APOA2
4apolipoprotein A-I bindingGO:03418610.1LCAT, ABCA1
5lipase inhibitor activityGO:05510210.0APOA1, APOA2
6high-density lipoprotein particle bindingGO:00803510.0APOA2, APOA1
7arylesterase activityGO:0040649.9PON2, PON1
8phospholipid transporter activityGO:0055489.9ABCA1, CETP, APOA1
9phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.9APOE, APOA1, APOA2
10phosphatidylcholine bindingGO:0312109.9APOA2, CETP
11beta-amyloid bindingGO:0015409.9APOA1, APOE, LDLRAP1
12apolipoprotein bindingGO:0341859.9MTTP, ABCA1, PCSK9
13low-density lipoprotein particle receptor bindingGO:0507509.9APOE, LDLRAP1, PCSK9, APOB
14low-density lipoprotein particle bindingGO:0301699.8PCSK9, LDLR
15cholesterol bindingGO:0154859.7APOA1, ABCA1, CETP, APOA2
16lipid transporter activityGO:0053199.6MTTP, CETP, APOA2, APOE
17lipid bindingGO:0082899.5APOA2, APOE, MTTP, CETP
18identical protein bindingGO:0428029.3APOE, APOA1, PCSK9, PON2
19cholesterol transporter activityGO:0171279.2ABCA1, APOE, APOA1, APOA2, CETP, APOB
20protein homodimerization activityGO:0428039.0APOE, APOA2, PON1, HMGCR, EPHX2
21phospholipid bindingGO:0055439.0APOA2, PON1, APOB, APOA1, APOE, ABCA1
22protein bindingGO:0055157.0ITIH4, PCSK9, LCAT, HMGCR, COG2, LDLR

Products for genes affiliated with Hypercholesterolemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypercholesterolemia

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet