FH
MCID: FML021
MIFTS: 86

Familial Hypercholesterolemia (FH) malady

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

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NIH Rare Diseases:42 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 based summary: Familial Hypercholesterolemia, also known as hypercholesterolemia, autosomal dominant, is related to hypercholesterolemia and familial combined hyperlipidemia. An important gene associated with Familial Hypercholesterolemia is LDLR (low density lipoprotein receptor), and among its related pathways are Vitamin digestion and absorption and COPI Mediated Transport. The drug ezetimibe and the compounds lomitapide and psyllium 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...

Descriptions from OMIM:46 144400,143890,602247,603813

GeneReviews summary for hyperchol

Aliases & Classifications for Familial Hypercholesterolemia

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Familial Hypercholesterolemia, Aliases & Descriptions:

Name: Familial Hypercholesterolemia 30 8 19 42
Hypercholesterolemia, Autosomal Dominant 19 42 44
Familial Hypercholesterolaemia 19 20 22
Hypercholesterolemia, Familial 9 46 62
Familial Hyperbetalipoproteinaemia 8 62
Ldl Receptor Disorder 42 62
Fredrickson Type Iia Hyperlipoproteinaemia 62
Fredrickson Type Iia Hyperlipoproteinemia 8
Homozygous Familial Hypercholesterolemia 48
High Serum Cholesterol, Familial 42
Fredrickson Type Iia Lipidaemia 8
 
Hyperlipoproteinemia, Type Iia 19
Hyperlipoproteinemia, Type 2 a 42
Hypercholesterolemia Familial 44
Familial Hypercholesteremia 8
Hyperbetalipoproteinemia 8
Hyperlipidema, Familial 42
Type Ii Hyperlipidemia 8
Hofh 48
Fhc 42
Fh 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
homozygous familial hypercholesterolemia:
Inheritance: Autosomal recessive


External Ids:

Disease Ontology8 DOID:13810
NCIt39 C34704
MeSH34 D006938
ICD10 via Orphanet26 E78.0

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

(show top 50)    (show all 151)
idRelated DiseaseScoreTop Affiliating Genes
1hypercholesterolemia31.9PCSK9, COG2, CETP, LDLRAP1, LDLR, PON2
2familial combined hyperlipidemia31.6HMGCR, APOB
3xanthomatosis31.1ABCA1, APOB, LDLR, LDLRAP1
4ldl cholesterol level qtl230.8LDLR
5atherosclerosis30.7ABCA1, HMGCR, PCSK9, COG2, CETP, LDLRAP1
6sitosterolemia30.7HMGCR
7hyperlipidemia type 330.7HMGCR, COG2, CETP, LDLR, APOB
8abetalipoproteinemia30.7APOB, CETP, PCSK9
9peripheral vascular disease30.6HMGCR, CETP, APOB
10familial hypertriglyceridemia30.6APOA2, APOB
11coronary stenosis30.6APOB, CETP
12venous thrombosis30.6HMGCR, CETP, APOB
13vascular disease30.6CETP, HMGCR, ABCA1, APOA4, APOB, LDLR
14arteriosclerosis30.5HMGCR, LDLR, COG2, APOB
15nephrotic syndrome30.5HMGCR, APOB, CETP
16hypertension30.4APOB, COG2, EPHX2
17myocardial infarction30.4HMGCR, COG2, CETP, LDLR, ABCA1, APOA4
18hyperalphalipoproteinemia30.3APOB, LDLR, CETP, ABCA1, APOA2
19hypoalphalipoproteinemia30.3ABCA1, APOA2, CETP, LDLR, APOB
20hypertriglyceridemia30.1CETP, ABCA1, APOA4, APOA2, APOB, LDLR
21hepatitis30.0EPHX2, GHR, LDLR
22diabetes mellitus29.5APOB, APOA2, APOA4, ABCA1, HMGCR, PON2
23insulin resistance29.5APOA4, CETP, HMGCR, COG2, GHR, LDLR
24familial hyperlipidemia29.4APOA4, APOA2, APOB, LDLR, CETP, GHR
25artery disease10.7
26hereditary leiomyomatosis and renal cell cancer10.6
27fumarate hydratase deficiency10.6
28defective apolipoprotein b-10010.6
29endotheliitis10.5
30leiomyomatosis10.5
31hypobetalipoproteinemia10.4PCSK9, APOB, LDLR
32supravalvular aortic stenosis10.4
33leiomyoma10.4
34hypothyroidism10.4CETP, APOB
35hyperaldosteronism, familial, type iii10.3
36stroke, ischemic10.3HMGCR, COG2, APOB
37metabolic syndrome x10.3ABCA1, LDLR, CETP, APOB
38histiocytosis-lymphadenopathy plus syndrome10.3
39glucose intolerance10.3APOA4, APOB
40fatty liver disease10.3CETP, COG2, APOB, HMGCR
41papillary renal cell carcinoma10.3
42renal cell carcinoma10.3
43leiomyosarcoma10.3
44uterine fibroid10.3
45norum disease10.3APOB, APOA2
46cerebrovascular disease10.3CETP, APOB, COG2, HMGCR, LDLR
47congenital heart disease10.3CETP, HMGCR, LDLR, APOB, COG2
48hypertrophic cardiomyopathy10.3
49familial hypertrophic cardiomyopathy10.3
50fitz-hugh-curtis syndrome10.3

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



Diseases related to familial hypercholesterolemia

Symptoms for Familial Hypercholesterolemia

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Clinical features from OMIM:

144400,143890,602247,603813

Drugs & Therapeutics for Familial Hypercholesterolemia

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Drug clinical trials:

Search ClinicalTrials for Familial Hypercholesterolemia

Search NIH Clinical Center for Familial Hypercholesterolemia

Inferred drug relations via UMLS62/NDF-RT40:

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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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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MalaCards organs/tissues related to Familial Hypercholesterolemia:

32
Heart, Liver, Endothelial, Testes, Brain, Monocytes, Bone marrow, Bone, Whole blood, Lung, Skin

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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MGI Mouse Phenotypes related to Familial Hypercholesterolemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.7ABCA1, APOA4, APOA2, LDLR
2MP:00053709.5ABCA1, APOB, LDLR, GHR, PCSK9, TRIB1
3MP:00053979.0APOA4, PON2, LDLR, GHR, CD93, TRIB1
4MP:00053859.0ABCA1, APOA4, APOB, PON2, EPHX2, LDLR
5MP:00053768.5TRIB1, ABCA1, APOA4, APOA2, APOB, PON2

Publications for Familial Hypercholesterolemia

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Articles related to Familial Hypercholesterolemia:

(show top 50)    (show all 892)
idTitleAuthorsYear
1
Hypoplastic aorta in a patient with familial hypercholesterolemia. (24287364)
2013
2
New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk]. (24450200)
2013
3
Corneal arcus and xanthomas in homozygous familial hypercholesterolemia: First report from China. (24088637)
2013
4
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia. (23680767)
2013
5
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
6
The impact of severe LDL receptor mutations on SREBP-pathway regulation in homozygous familial hypercholesterolemia (FH). (22425645)
2012
7
Do statins reduce the incidence of stroke in familial hypercholesterolemia? (21438814)
2011
8
Cascade Screening for Familial Hypercholesterolemia (FH). (21633520)
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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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:

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 Familial Hypercholesterolemia

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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

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Pathways related to Familial Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1APOA4, APOB
2
Show member pathways
10.1CETP, ABCA1
310.0ABCA1, APOA2, APOB
4
Show member pathways
9.9APOB, APOA4, ABCA1
59.9ABCA1, LDLR, HMGCR
69.9ABCA1, APOA4, APOA2
7
Show member pathways
9.8LDLR, APOA4, APOA2, APOB
8
Show member pathways
thioredoxin pathway37
9.7ABCA1, APOB, SELO, LDLR
9
Show member pathways
9.3APOB, ABCA1, APOA4, APOA2, LDLR, LDLRAP1
10
Show member pathways
9.2ABCA1, APOA4, APOA2, APOB, HMGCR, CETP
11
Show member pathways
9.1GHR, LDLR, CXCL3, OR13G1, APOB, APOA2
12
Show member pathways
8.6HMGCR, FH, CETP, LDLRAP1, LDLR, EPHX2

Compounds for genes affiliated with Familial Hypercholesterolemia

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Compounds related to Familial Hypercholesterolemia according to GeneCards/GeneDecks:

(show top 50)    (show all 107)
idCompoundScoreTop Affiliating Genes
1lomitapide50 1111.3APOB, LDLR, PCSK9
2psyllium4410.2HMGCR, CETP, LDLR, APOB
3ciprofibrate44 2811.2HMGCR, LDLR, EPHX2, APOB
4lathosterol44 2411.2APOB, LDLR, CETP, HMGCR
5colestipol4410.2APOB, COG2, HMGCR
6xbai4410.2APOA4, APOB, LDLR, CETP
7intralipid4410.1CETP, APOB, APOA2, APOA4
827-hydroxycholesterol44 2811.1HMGCR, LDLR, ABCA1
9mspi4410.0APOA4, APOA2, APOB, LDLR, CETP
10chenodeoxycholic acid44 28 24 1113.0HMGCR, CETP, LDLR, APOB
11probucol44 1111.0ABCA1, APOB, LDLR, CETP, HMGCR
12oleic acid44 28 24 1113.0ABCA1, APOA4, APOB, LDLR, CETP
13cholestyramine4410.0APOB, LDLR, CETP, COG2, HMGCR
14rosuvastatin44 50 28 1112.9APOB, LDLR, CETP, COG2, HMGCR
15alpha tocopherol449.9ABCA1, APOB, LDLR, CETP, HMGCR
16fluvastatin44 50 28 1112.9APOB, LDLR, CETP, COG2, HMGCR
17retinyl palmitate44 2410.9COG2, APOB, APOA4
18palmitate449.9APOB, LDLR, CETP, GHR, COG2
19lovastatin44 50 61 28 1113.8APOB, LDLR, CETP, COG2, HMGCR
20vitamin a44 24 1111.8APOA4, APOB, LDLR, CETP, GHR
21phosphatidylcholine449.8ABCA1, APOA4, APOA2, APOB, LDLR, CETP
22acipimox44 2810.8APOB, CETP, HMGCR
23stearic acid44 24 1111.8ABCA1, LDLR, CETP, COG2
24gemfibrozil28 44 1111.8APOA2, APOB, LDLR, CETP, COG2, HMGCR
25triacylglycerol449.8APOA4, APOA2, APOB, LDLR, CETP, COG2
26ezetimibe44 1110.8ABCA1, APOB, LDLR, CETP, COG2, HMGCR
27niacin44 1110.8ABCA1, APOB, LDLR, CETP, COG2, HMGCR
28pravastatin44 50 28 24 1113.7ABCA1, APOB, LDLR, CETP, COG2, HMGCR
29atorvastatin44 50 28 24 1113.7ABCA1, APOB, LDLR, CETP, COG2, HMGCR
30thyroxine44 2410.7APOB, LDLR, CETP, GHR, COG2, HMGCR
31simvastatin44 50 61 28 24 1114.7ABCA1, APOB, LDLR, CETP, COG2, HMGCR
32aspirin44 50 28 2412.7ABCA1, APOB, LDLR, CETP, COG2, HMGCR
33dimyristoylphosphatidylcholine449.7LDLR, APOA2, APOA4
34tamoxifen44 50 28 1112.7GHR, CETP, LDLR, EPHX2, APOB
35glutamine449.6APOA4, APOA2, APOB, EPHX2, LDLR, CETP
36bezafibrate44 28 1111.6ABCA1, APOA2, APOB, LDLR, CETP, COG2
37sterol449.6ABCA1, APOB, LDLR, CETP, COG2, PCSK9
38testosterone44 61 24 1112.5ABCA1, APOB, EPHX2, LDLR, CETP, GHR
39fenofibrate44 50 1111.5EPHX2, APOB, APOA2, ABCA1, LDLR, CETP
40heparin44 28 24 1112.4APOA4, APOA2, APOB, LDLR, CETP, COG2
41cholesterol ester449.4HMGCR, COG2, CETP, LDLR, APOB, APOA2
42phospholipid449.4ABCA1, APOA4, APOA2, APOB, PON2, LDLR
43creatinine449.4APOA4, APOB, GHR, FH, COG2, HMGCR
44dexamethasone44 50 28 1112.4ABCA1, APOB, EPHX2, LDLR, GHR, HMGCR
45arginine449.3APOA2, EPHX2, LDLR, CETP, GHR, COG2
46fatty acid449.3ABCA1, APOA4, APOA2, APOB, LDLR, CETP
47glucose449.3ABCA1, APOA4, APOA2, APOB, PON2, GHR
48serine449.1ABCA1, APOA4, APOA2, APOB, EPHX2, LDLR
49lipid449.0ABCA1, APOA4, APOA2, APOB, PON2, LDLR
50cholesterol44 28 24 1111.7HMGCR, PCSK9, COG2, GHR, CETP, LDLRAP1

GO Terms for genes affiliated with Familial Hypercholesterolemia

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

idNameGO IDScoreTop Affiliating Genes
1chylomicronGO:04262710.1APOA4, APOB, APOA2
2very-low-density lipoprotein particleGO:03436110.1APOB, APOA2, APOA4
3low-density lipoprotein particleGO:03436210.1APOB, LDLR
4high-density lipoprotein particleGO:03436410.0CETP, APOA4, APOA2
5lysosomeGO:00576410.0PCSK9, LDLR, PON2
6early endosomeGO:0057699.7LDLRAP1, PCSK9, LDLR, APOB, APOA2, APOA4
7endoplasmic reticulum lumenGO:0057889.7APOA2, APOB, APOA4
8cell surfaceGO:0099869.5CD93, PCSK9, GHR, LDLR, APOA4, ABCA1
9extracellular spaceGO:0056159.3GHR, PCSK9, CETP, CXCL3, APOB, APOA4
10extracellular regionGO:0055769.1APOB, PON2, CXCL3, APOA2, CETP, GHR

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein catabolic processGO:04215910.5APOB, LDLR
2high-density lipoprotein particle assemblyGO:03438010.4APOA2, ABCA1
3regulation of intestinal cholesterol absorptionGO:03030010.3APOA4, APOA2
4low-density lipoprotein particle clearanceGO:03438310.3APOB, LDLR
5cholesterol transportGO:03030110.3APOB, LDLR, CETP
6low-density lipoprotein particle remodelingGO:03437410.3CETP, APOB, APOA2
7positive regulation of cholesterol esterificationGO:01087310.3APOA4, APOA2
8very-low-density lipoprotein particle remodelingGO:03437210.3APOA4, CETP
9phospholipid effluxGO:03370010.3ABCA1, APOA4, APOA2
10triglyceride metabolic processGO:00664110.2PCSK9, CETP, APOA2
11phosphatidylcholine metabolic processGO:04647010.2APOA4, CETP
12high-density lipoprotein particle remodelingGO:03437510.2APOA4, APOA2, CETP
13phospholipid homeostasisGO:05509110.2CETP, ABCA1
14retinoid metabolic processGO:00152310.2LDLR, APOB, APOA2, APOA4
15receptor-mediated endocytosisGO:00689810.2APOB, LDLR, LDLRAP1, CETP
16cholesterol effluxGO:03334410.1ABCA1, APOA4, APOA2, APOB
17phototransduction, visible lightGO:00760310.1APOA4, APOA2, APOB, LDLR
18negative regulation of macrophage derived foam cell differentiationGO:01074510.1CETP, ABCA1
19reverse cholesterol transportGO:04369110.1ABCA1, APOA4, APOA2, CETP
20phospholipid transportGO:01591410.0LDLR, CETP
21cellular lipid metabolic processGO:0442559.9HMGCR, APOA2, ABCA1
22lipid homeostasisGO:0550889.8CETP, APOA4
23lipoprotein metabolic processGO:0421579.7ABCA1, PCSK9, CETP, LDLR, APOB, APOA2
24cholesterol metabolic processGO:0082039.5APOB, APOA2, APOA4, ABCA1, LDLR, LDLRAP1
25cholesterol homeostasisGO:0426329.3PCSK9, CETP, LDLRAP1, LDLR, EPHX2, APOB
26small molecule metabolic processGO:0442819.3ABCA1, APOA4, APOA2, APOB, EPHX2, LDLR

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein receptor bindingGO:03419010.3PCSK9, APOA2
2low-density lipoprotein particle receptor bindingGO:05075010.3LDLRAP1, APOB, PCSK9
3phosphatidylcholine-sterol O-acyltransferase activator activityGO:06022810.3APOA2, APOA4
4phospholipid transporter activityGO:00554810.2CETP, ABCA1
5phosphatidylcholine bindingGO:03121010.2CETP, APOA2, APOA4
6cholesterol bindingGO:01548510.1ABCA1, APOA2, CETP
7lipid transporter activityGO:00531910.1APOA2, APOA4, CETP
8phospholipid bindingGO:00554310.1ABCA1, APOB, APOA2
9apolipoprotein bindingGO:03418510.0ABCA1, PCSK9
10lipid bindingGO:0082899.9CETP, APOA2, APOA4
11low-density lipoprotein particle bindingGO:0301699.9LDLR, PCSK9
12cholesterol transporter activityGO:0171279.9ABCA1, APOA4, APOA2, CETP, APOB
13protein homodimerization activityGO:0428039.6APOA2, EPHX2, HMGCR, GHR, APOA4

Products for genes affiliated with Familial Hypercholesterolemia

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  • Antibodies
  • Proteins
  • Lysates

Sources for Familial 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