FH
MCID: FML021
MIFTS: 85

Familial Hypercholesterolemia (FH) malady

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

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43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Familial hypercholesterolemia (fh) is an inherited condition that causes abnormally high levels of ldl (low density lipoprotein) cholesterol beginning at birth. when too much ldl cholesterol is present in the blood stream, it builds up in the walls of the arteries and increases the risk of heart attacks and heart disease. men with fh may have heart attacks in their 40s to 50s, and women with fh may have them in their 50s to 60s. fh is most commonly caused by mutations in the ldlr gene and is usually inherited in an autosomal dominant manner. more rarely, it may be caused by mutations in other genes and can be inherited in an autosomal recessive manner. treatment focuses on lowering ldl cholesterol levels in the blood and may include dietary modification and medication. last updated: 10/22/2013

MalaCards: Familial Hypercholesterolemia, also known as hypercholesterolemia, autosomal dominant, is related to hypercholesterolemia and atherosclerosis. An important gene associated with Familial Hypercholesterolemia is LDLR (low density lipoprotein receptor), and among its related pathways are COPI Mediated Transport and SREBF and miR33 in cholesterol and lipid homeostasis. The drug ezetimibe and the compounds psyllium and 22r-hydroxycholesterol have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and endothelial, and related mouse phenotypes are other and liver/biliary system.

Wikipedia:65 Familial hypercholesterolemia (abbreviated FH, also spelled familial hypercholesterolaemia) is a genetic... more...

Description from OMIM:47 144400,143890,603813,602247

GeneReviews summary for hyperchol

Aliases & Classifications for Familial Hypercholesterolemia

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8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 31LifeMap Discovery™, 9diseasecard, 47OMIM, 62UMLS, 45Novoseek, 20GeneTests, 22GTR, 49Orphanet, 40NCIt, 58SNOMED-CT, 35MeSH, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
homozygous familial hypercholesterolemia:
Inheritance: Autosomal recessive


Aliases & Descriptions:

familial hypercholesterolemia 8 19 43 31
hypercholesterolemia, autosomal dominant 19 43 45
familial hypercholesterolaemia 19 20 22
hypercholesterolemia, familial 9 47 62
fredrickson type iia hyperlipoproteinemia 8
homozygous familial hypercholesterolemia 49
familial hyperbetalipoproteinaemia 8
high serum cholesterol, familial 43
fredrickson type iia lipidaemia 8
hyperlipoproteinemia, type iia 19
hyperlipoproteinemia, type 2 a 43
hypercholesterolemia familial 45
familial hypercholesteremia 8
hyperbetalipoproteinemia 8
hyperlipidema, familial 43
type ii hyperlipidemia 8
ldl receptor disorder 43
hofh 49
fhc 43
fh 43


External Ids:

Disease Ontology8 DOID:13810
NCIt40 C34704
MeSH35 D006938
ICD10 via Orphanet26 E78.0

Related Diseases for Familial 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 Familial Hypercholesterolemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 153)
idRelated DiseaseScoreTop Affiliating Genes
1hypercholesterolemia32.0ABCA1, APOE, APOA1, APOB, PON2, LDLR
2atherosclerosis31.0APOE, APOA1, APOB, PON2, EPHX2, LDLR
3familial combined hyperlipidemia30.9APOE, APOA1, APOB, HMGCR
4coronary artery disease30.8ABCA1, APOA1, APOB, LDLR, CETP, COG2
5myocardial infarction30.4ABCA1, APOA4, APOE, APOA1, APOB, PON2
6xanthomatosis30.4ABCA1, APOE, APOB, LDLR, LDLRAP1
7familial hypertriglyceridemia30.3APOB, APOA1, APOE
8acute myocardial infarction30.3APOA1, APOB, HMGCR
9hyperlipidemia type 330.2APOE, APOA1, APOB, LDLR, CETP, COG2
10sitosterolemia30.1HMGCR
11cerebral atherosclerosis30.1APOA1
12vascular disease30.1ABCA1, APOA4, APOE, APOA1, APOB, LDLR
13venous thrombosis30.1APOB, CETP, HMGCR
14hypertriglyceridemia30.1ABCA1, APOA4, APOE, APOA1, APOB, LDLR
15ldl cholesterol level qtl230.1LDLR
16coronary stenosis30.1CETP, APOB, APOA1
17diabetes mellitus30.1ABCA1, APOA4, APOE, APOA1, APOB, PON2
18hyperalphalipoproteinemia30.1ABCA1, APOA1, APOB, LDLR, CETP
19peripheral vascular disease30.1APOA1, APOB, CETP, HMGCR
20essential hypertension30.0CETP, APOB, APOA1
21hypoalphalipoproteinemia30.0ABCA1, APOA1, APOB, LDLR, CETP
22hypertension30.0COG2, EPHX2, APOB, APOA1, APOE
23arteriosclerosis30.0APOA1, APOB, LDLR, COG2, HMGCR
24abetalipoproteinemia30.0APOE, APOA1, APOB, CETP, PCSK9
25nephrotic syndrome30.0APOE, APOA1, APOB, CETP, HMGCR
26insulin resistance30.0APOA4, APOA1, APOB, LDLR, CETP, COG2
27familial hyperlipidemia29.9APOE, APOA1, APOB, LDLR, CETP, COG2
28artery disease10.6
29defective apolipoprotein b-10010.6
30hereditary leiomyomatosis and renal cell cancer10.6
31fumarate hydratase deficiency10.5
32endotheliitis10.5
33leiomyomatosis10.5
34leiomyoma10.4
35supravalvular aortic stenosis10.4
36histiocytosis-lymphadenopathy plus syndrome10.3
37papillary renal cell carcinoma10.3
38leiomyosarcoma10.3
39renal cell carcinoma10.3
40uterine fibroid10.3
41hyperaldosteronism, familial, type iii10.3
42fitz-hugh-curtis syndrome10.2
43cerebritis10.2
44hyperapobetalipoproteinemia10.2
45blindness10.2
46floating-harbor syndrome10.2
47multiple cutaneous and uterine leiomyomas10.2
48waardenburg's syndrome10.2
49familial hypertrophic cardiomyopathy10.2
50aortic atherosclerosis10.2

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



Diseases related to familial hypercholesterolemia

Symptoms for Familial Hypercholesterolemia

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47OMIM
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Clinical features from OMIM:

144400,143890,603813,602247

Drugs & Therapeutics for Familial Hypercholesterolemia

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Familial Hypercholesterolemia

Search NIH Clinical Center for Familial Hypercholesterolemia

Inferred drug relations via UMLS62/NDF-RT41:

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Familial Hypercholesterolemia cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Familial Hypercholesterolemia:
Hepatocyte transplantation for treatment of liver disorders
Hepatocyte transplantation for treatment of liver failure and inherited metabolic diseases
Embryonic/Adult Cultured Cells Related to Familial Hypercholesterolemia:
Hepatocytes, PMIDs: 15239608, 12777539, 9580649, 22789058, 22167636
Hepatocytes

Genetic Tests for Familial Hypercholesterolemia

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20GeneTests, 22GTR
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Genetic tests related to Familial Hypercholesterolemia:

id Genetic test Affiliating Genes
1 Familial Hypercholesterolemia20 22
2 Familial Hypercholesterolemias22

Anatomical Context for Familial Hypercholesterolemia

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31LifeMap Discovery™, 33MalaCards
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MalaCards organs/tissues related to Familial Hypercholesterolemia:

33
Heart, Liver, Endothelial, Testes, Brain, Monocytes, Whole blood, Bone, Lung, Skin, Bone marrow

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Familial Hypercholesterolemia:
id TissueAnatomical CompartmentCell Relevance
1 LiverLiver LobuleHepatocytes Potential therapeutic candidate, affected by disease

Animal Models for Familial Hypercholesterolemia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Familial Hypercholesterolemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.5ABCA1, APOA4, APOE, LDLR
2MP:00053708.9ABCA1, APOE, APOA1, APOB, LDLR, PCSK9
3MP:00053858.6ABCA1, APOA4, APOE, APOA1, APOB, PON2
4MP:00053878.3APOA4, APOE, APOA1, PON2, LDLR, CD93
5MP:00053978.0ABCA1, APOA4, APOE, APOA1, PON2, LDLR
6MP:00053767.9TRIB1, ABCA1, APOA4, APOE, APOA1, APOB

Publications for Familial Hypercholesterolemia

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52PubMed
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Articles related to Familial Hypercholesterolemia:

(show top 50)    (show all 860)
idTitleAuthorsYear
1
Hypoplastic aorta in a patient with familial hypercholesterolemia. (24287364)
2013
2
Corneal arcus and xanthomas in homozygous familial hypercholesterolemia: First report from China. (24088637)
2013
3
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia. (23680767)
2013
4
Population pharmacokinetics of atorvastatin and its active metabolites in children and adolescents with heterozygous familial hypercholesterolemia: selective use of informative prior distributions from adults. (23381936)
2013
5
The impact of severe LDL receptor mutations on SREBP-pathway regulation in homozygous familial hypercholesterolemia (FH). (22425645)
2012
6
Do statins reduce the incidence of stroke in familial hypercholesterolemia? (21438814)
2011
7
Cascade Screening for Familial Hypercholesterolemia (FH). (21633520)
2011
8
Research progression of LDLR mutations in Chinese Familial hypercholesterolemia]. (21377952)
2011
9
Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia. (20172523)
2010
10
Increased oxidative stress levels and normal antioxidant enzyme activity in circulating mononuclear cells from patients of familial hypercholesterolemia. (19800085)
2010
11
Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia. (20663204)
2010
12
Images in clinical medicine. Familial hypercholesterolemia. (19403906)
2009
13
Diagnosis scoring for clinical identification of children with heterozygous familial hypercholesterolemia. (19330934)
2009
14
Simvastatin with or without ezetimibe in familial hypercholesterolemia (the ENHANCE trial). (19228478)
2009
15
Association of C677T polymorphism in MTHFR gene, high homocysteine and low HDL cholesterol plasma values in heterozygous familial hypercholesterolemia. (20065615)
2009
16
Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa. (17765244)
2008
17
Familial hypercholesterolemia: current treatment and advances in management. (18402545)
2008
18
No correlation and low agreement of imaging and inflammatory atherosclerosis' markers in familial hypercholesterolemia. (18255071)
2008
19
Gender influence on postprandial lipemia in heterozygotes for familial hypercholesterolemia. (18000290)
2007
20
Structural and biophysical studies of PCSK9 and its mutants linked to familial hypercholesterolemia. (17435765)
2007
21
Premature cardiovascular disease in young women with heterozygous familial hypercholesterolemia. (16716095)
2006
22
Genotype of the mutant LDL receptor allele is associated with LDL particle size heterogeneity in familial hypercholesterolemia. (15899484)
2006
23
Effects of fenofibrate on apolipoprotein kinetics in patients with coexisting dysbetalipoproteinemia and heterozygous familial hypercholesterolemia. (16337207)
2006
24
Autosomal recessive hypercholesterolemia in three sisters with phenotypic homozygous familial hypercholesterolemia: diagnostic and therapeutic procedures. (15274677)
2004
25
Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia]. (15497035)
2004
26
Intravenous gene therapy for familial hypercholesterolemia using ligand-facilitated transfer of a liposome:LDL receptor gene complex. (12704424)
2003
27
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. (12436241)
2002
28
Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol. (11600564)
2001
29
Fibrinolytic parameters and insulin resistance in young survivors of myocardial infarction with heterozygous familial hypercholesterolemia. (11253736)
2001
30
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
31
Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. (10206683)
1998
32
Tolerability and effects of high doses acipimox as additional lipid-lowering therapy in familial hypercholesterolemia. (9852713)
1998
33
Genetic variation at the apoA-IV gene locus and response to diet in familial hypercholesterolemia. (9714133)
1998
34
Applicability of LDLR flanking microsatellite polymorphisms for prenatal diagnosis of homozygous state for familial hypercholesterolemia. (9660055)
1998
35
Pregnancy in patient with familial hypercholesterolemia and atherosclerosis disease]. (9435357)
1997
36
Molecular genetics of familial hypercholesterolemia in Israel. (8882879)
1996
37
Evaluation of double filtration plasmapheresis, thermofiltration, and low-density lipoprotein adsorptive methods by crossover test in the treatment of familial hypercholesterolemia patients. (8860710)
1996
38
Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia. (8740918)
1996
39
Elevated levels of lipoprotein (a) in children with familial hypercholesterolemia. (8197753)
1994
40
Intrafamilial variability in the clinical expression of familial hypercholesterolemia: importance of risk factor determination for genetic counselling. (8370148)
1993
41
Contribution of molecular biology to the diagnosis of familial hypercholesterolemias in children]. (1347990)
1992
42
Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels. (1315570)
1992
43
Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method. (1301940)
1992
44
The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland. (1634609)
1992
45
A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. (1867200)
1991
46
Identification of a 76-year-old patient with compound heterozygous familial hypercholesterolemia by haplotype analysis of the LDL receptor gene. (1685207)
1991
47
Familial hypercholesterolemia in a rhesus monkey pedigree: molecular basis of low density lipoprotein receptor deficiency. (2326270)
1990
48
Familial defective apolipoprotein B-100. Comparison with familial hypercholesterolemia in 18 cases detected in Munich. (2164382)
1990
49
Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia. (2544509)
1989
50
Regulation of cholesterol synthesis by low density lipoprotein in isolated human lymphocytes. Comparison of cells from normal subjects and patients with homozygous familial hypercholesterolemia and abetalipoproteinemia. (194011)
1977

Variations for Familial Hypercholesterolemia

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Familial 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 Familial 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 Familial Hypercholesterolemia

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

Search GEO for disease gene expression data for Familial Hypercholesterolemia.

Pathways for genes affiliated with Familial Hypercholesterolemia

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

Pathways related to Familial Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0CETP, ABCA1
29.8ABCA1, LDLR, HMGCR
39.8APOB, APOA1, ABCA1
49.7APOB, APOA1, APOA4
59.7APOA1, APOA4, ABCA1
6
Show member pathways
9.7APOE, APOA1, APOB
7
Show member pathways
Vitamin B12 Metabolism38
9.6ABCA1, APOE, APOA1
8
Show member pathways
9.5APOB, APOA1, APOA4, ABCA1
9
Show member pathways
9.3APOA4, APOE, APOA1, APOB, LDLR
10
Show member pathways
thioredoxin pathway38
9.1ABCA1, APOA1, APOB, SELO, LDLR
11
Show member pathways
8.6CETP, ABCA1, LDLRAP1, LDLR, APOB, APOA1
12
Show member pathways
8.6APOA4, APOE, APOA1, APOB, OR13G1, CXCL3
13
Show member pathways
8.5ABCA1, APOA4, APOE, APOA1, APOB, LDLR
14
Show member pathways
7.7ABCA1, APOA4, APOE, APOA1, APOB, PON2

Compounds for genes affiliated with Familial Hypercholesterolemia

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

Compounds related to Familial Hypercholesterolemia according to GeneCards/GeneDecks:

(show top 50)    (show all 133)
idCompoundScoreTop Affiliating Genes
1psyllium4510.0CETP, HMGCR, LDLR, APOB
222r-hydroxycholesterol45 2910.8LDLR, APOA1, ABCA1, APOE
3acipimox45 2910.8APOA1, CETP, APOB, HMGCR
4dimyristoylphosphatidylcholine459.7APOA4, LDLR, APOA1, APOE
5campesterol45 2410.7APOA1, APOE, HMGCR, APOB
6colestipol459.7APOB, COG2, APOA1, HMGCR
7ciprofibrate45 2910.7EPHX2, HMGCR, APOB, LDLR, APOA1
8lathosterol45 2410.7HMGCR, CETP, APOB, LDLR, APOE
9xbai459.7APOB, APOE, APOA4, LDLR, CETP
1024s-hydroxy-cholesterol459.7APOE, ABCA1, HMGCR
11tocopherol459.7HMGCR, APOA1, LDLR, APOB
127-ketocholesterol45 2410.7APOE, APOA1, APOB, HMGCR
13oleic acid45 29 24 1112.7LDLR, APOB, APOA4, CETP, ABCA1
14mspi459.7CETP, APOA4, APOA1, APOB, LDLR
15atenolol45 51 29 24 1113.6LDLR, APOE, APOA1, COG2
16intralipid459.6APOA1, APOE, APOA4, APOB, CETP
17retinyl palmitate45 2410.5COG2, APOB, APOA4, APOE, APOA1
18cholestyramine459.4HMGCR, LDLR, COG2, CETP, APOE, APOB
19vitamin a45 24 1111.3APOA4, CETP, LDLR, APOA1, APOE, APOB
20palmitate459.2COG2, APOA1, APOE, CETP, LDLR, APOB
21probucol45 1110.2HMGCR, ABCA1, APOE, APOA1, APOB, LDLR
22ezetimibe45 1110.2COG2, HMGCR, APOB, LDLR, CETP, ABCA1
23alpha tocopherol459.2CETP, ABCA1, APOE, APOA1, APOB, LDLR
24niacin45 1110.2APOB, LDLR, APOA1, ABCA1, CETP, COG2
25phosphatidylcholine459.2LDLR, APOA1, APOE, APOA4, ABCA1, APOB
26fatty acid459.1APOA4, ABCA1, FH, APOB, LDLR, CETP
27gemfibrozil29 45 1111.1LDLR, APOB, APOE, APOA1, CETP, COG2
28rosuvastatin45 51 29 1112.1APOE, APOA1, APOB, LDLR, CETP, COG2
29triacylglycerol459.1APOE, LDLR, CETP, COG2, APOB, APOA1
30homocysteine45 2410.1APOE, APOA1, APOB, COG2, CETP
31fluvastatin45 51 29 1112.1APOE, APOA1, COG2, CETP, LDLR, APOB
32lovastatin45 51 61 29 1113.1APOB, APOE, HMGCR, COG2, LDLR, APOA1
33cerivastatin51 45 29 1112.1HMGCR, COG2, APOB, APOA1
34thyroxine45 2410.0APOA1, APOE, CETP, LDLR, COG2, HMGCR
35tamoxifen45 51 29 1112.0APOE, CETP, LDLR, EPHX2, APOB, APOA1
36bezafibrate45 29 1110.9ABCA1, APOE, APOA1, APOB, LDLR, CETP
37pravastatin45 51 29 24 1112.9ABCA1, APOE, APOB, LDLR, CETP, COG2
38atorvastatin45 51 29 24 1112.9COG2, APOB, APOA1, ABCA1, CETP, APOE
39simvastatin45 51 61 29 24 1113.9APOA1, HMGCR, COG2, CETP, LDLR, APOB
40aspirin45 51 29 2411.8APOE, HMGCR, COG2, CETP, LDLR, ABCA1
41heparin45 29 24 1111.8APOE, COG2, CETP, HMGCR, LDLR, APOA4
42testosterone45 61 24 1111.8COG2, CETP, ABCA1, LDLR, EPHX2, APOA1
43creatinine458.8HMGCR, APOE, APOA4, COG2, APOA1, FH
44sterol458.7PCSK9, HMGCR, COG2, CETP, ABCA1, APOE
45fenofibrate45 51 1110.7ABCA1, APOE, CETP, HMGCR, COG2, LDLR
46cholesterol ester458.6ABCA1, APOA4, APOE, APOA1, APOB, LDLR
47phospholipid458.6CETP, COG2, LDLR, PON2, APOB, APOA1
48serine458.3ABCA1, PCSK9, APOA1, APOA4, APOB, EPHX2
49lipid458.1ABCA1, COG2, PCSK9, CETP, LDLR, PON2
50cholesterol45 29 24 1111.0HMGCR, PCSK9, COG2, CETP, LDLRAP1, LDLR

GO Terms for genes affiliated with Familial Hypercholesterolemia

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Sources:
16Gene Ontology
See all sources

Cellular components related to Familial Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1intermediate-density lipoprotein particleGO:03436310.2APOB, APOE
2extrinsic component of external side of plasma membraneGO:03123210.1PCSK9, APOE
3low-density lipoprotein particleGO:03436210.1LDLR, APOB, APOE
4chylomicronGO:04262710.0APOA4, APOE, APOB
5endocytic vesicle lumenGO:0716829.9APOE, APOA1, APOB
6late endosomeGO:0057709.9APOE, LDLR, PCSK9
7lysosomeGO:0057649.9PCSK9, LDLR, PON2
8very-low-density lipoprotein particleGO:0343619.7APOA4, APOE, APOA1, APOB
9high-density lipoprotein particleGO:0343649.7CETP, APOA1, APOE, APOA4
10blood microparticleGO:0725629.5APOA4, APOE, APOA1
11cell surfaceGO:0099869.5ABCA1, APOA4, LDLR, PCSK9, CD93
12Golgi apparatusGO:0057949.4PCSK9, LDLR, APOB, APOE, ABCA1
13endoplasmic reticulum lumenGO:0057889.4APOB, APOA1, APOA4
14early endosomeGO:0057699.2PCSK9, LDLRAP1, LDLR, APOB, APOA1, APOE
15extracellular spaceGO:0056158.8APOA4, APOE, APOA1, APOB, CXCL3, CETP
16extracellular regionGO:0055768.6APOA4, APOE, APOA1, APOB, PON2, CXCL3

Biological processes related to Familial Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1low-density lipoprotein particle clearanceGO:03438310.3LDLR, APOB
2cholesterol importGO:07050810.3LDLR, APOA1
3phosphatidylcholine metabolic processGO:04647010.2CETP, APOA4
4regulation of intestinal cholesterol absorptionGO:03030010.2APOA1, APOA4
5negative regulation of macrophage derived foam cell differentiationGO:01074510.2CETP, ABCA1
6lipoprotein catabolic processGO:04215910.2APOE, APOB, LDLR
7phospholipid transportGO:01591410.1CETP, LDLR
8positive regulation of cholesterol effluxGO:01087510.1ABCA1, APOE
9peripheral nervous system axon regenerationGO:01401210.1APOA1, APOE
10high-density lipoprotein particle clearanceGO:03438410.1APOE, APOA1
11cellular response to cholesterolGO:07139710.1APOE, ABCA1
12low-density lipoprotein particle remodelingGO:03437410.1CETP, APOB, APOE
13triglyceride metabolic processGO:00664110.1APOE, CETP, PCSK9
14very-low-density lipoprotein particle remodelingGO:03437210.0APOA4, APOE, CETP
15phospholipid homeostasisGO:05509110.0ABCA1, APOA1, CETP
16lipoprotein biosynthetic processGO:04215810.0APOE, APOA1, APOB
17lipid homeostasisGO:05508810.0APOA4, CETP
18regulation of Cdc42 protein signal transductionGO:03248910.0ABCA1, APOE, APOA1
19artery morphogenesisGO:04884410.0APOB, APOE
20high-density lipoprotein particle assemblyGO:03438010.0ABCA1, APOE, APOA1
21cholesterol transportGO:03030110.0APOA1, APOB, LDLR, CETP
22positive regulation of cholesterol esterificationGO:0108739.9APOA4, APOE, APOA1
23response to nutrientGO:0075849.9HMGCR, APOA1, ABCA1
24triglyceride homeostasisGO:0703289.8CETP, APOA1
25phospholipid effluxGO:0337009.8ABCA1, APOA4, APOE, APOA1
26receptor-mediated endocytosisGO:0068989.8APOE, APOB, LDLR, LDLRAP1, CETP
27high-density lipoprotein particle remodelingGO:0343759.8APOA4, APOE, APOA1, CETP
28retinoid metabolic processGO:0015239.6APOA4, APOE, APOA1, APOB, LDLR
29phototransduction, visible lightGO:0076039.6APOA4, APOE, APOA1, APOB, LDLR
30cholesterol effluxGO:0333449.6ABCA1, APOA4, APOE, APOA1, APOB
31reverse cholesterol transportGO:0436919.6ABCA1, APOA4, APOE, APOA1, CETP
32cellular lipid metabolic processGO:0442559.4HMGCR, APOA1, ABCA1
33lipoprotein metabolic processGO:0421579.0PCSK9, CETP, LDLR, APOB, APOA1, APOE
34cholesterol metabolic processGO:0082038.9APOA1, APOE, APOA4, ABCA1, APOB, LDLR
35cholesterol homeostasisGO:0426328.7PCSK9, CETP, LDLRAP1, LDLR, EPHX2, APOB
36small molecule metabolic processGO:0442818.5ABCA1, APOA4, APOE, APOA1, APOB, EPHX2

Molecular functions related to Familial Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein bindingGO:03418510.2ABCA1, PCSK9
2apolipoprotein receptor bindingGO:03419010.2APOA1, PCSK9
3very-low-density lipoprotein particle receptor bindingGO:07032610.1PCSK9, APOE
4low-density lipoprotein particle bindingGO:03016910.1PCSK9, LDLR
5phosphatidylcholine bindingGO:03121010.1APOA4, CETP
6phospholipid transporter activityGO:00554810.0CETP, APOA1, ABCA1
7lipid transporter activityGO:0053199.9CETP, APOE, APOA4
8cholesterol bindingGO:0154859.9CETP, APOA1, ABCA1
9low-density lipoprotein particle receptor bindingGO:0507509.9PCSK9, LDLRAP1, APOB, APOE
10phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.9APOA4, APOE, APOA1
11beta-amyloid bindingGO:0015409.9APOE, APOA1, LDLRAP1
12phospholipid bindingGO:0055439.7ABCA1, APOE, APOA1, APOB
13antioxidant activityGO:0162099.6APOE, APOA4
14lipid bindingGO:0082899.6APOA4, APOE, CETP
15identical protein bindingGO:0428029.4PCSK9, PON2, APOA1, APOE
16cholesterol transporter activityGO:0171279.3CETP, ABCA1, APOA4, APOE, APOA1, APOB

Products for genes affiliated with Familial Hypercholesterolemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial 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