FH
MCID: FML021
MIFTS: 85

Familial Hypercholesterolemia (FH) malady

Genetic diseases, Rare diseases, Metabolic diseases, Endocrine diseases categories

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 psyllium and ciprofibrate 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:64 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 31 9 20 42
Hypercholesterolemia, Autosomal Dominant 20 42 44
Familial Hypercholesterolaemia 20 21 23
Hypercholesterolemia, Familial 10 46 61
Familial Hyperbetalipoproteinaemia 9 61
Ldl Receptor Disorder 42 61
Fredrickson Type Iia Hyperlipoproteinaemia 61
Fredrickson Type Iia Hyperlipoproteinemia 9
Homozygous Familial Hypercholesterolemia 48
High Serum Cholesterol, Familial 42
Fredrickson Type Iia Lipidaemia 9
 
Hyperlipoproteinemia, Type Iia 20
Hyperlipoproteinemia, Type 2 a 42
Hypercholesterolemia Familial 44
Familial Hypercholesteremia 9
Hyperbetalipoproteinemia 9
Hyperlipidema, Familial 42
Type Ii Hyperlipidemia 9
Hofh 48
Fhc 42
Fh 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
homozygous familial hypercholesterolemia:
Inheritance: Autosomal recessive


External Ids:

Disease Ontology9 DOID:13810
NCIt39 C34704
MeSH34 D006938
ICD10 via Orphanet27 E78.0

Related Diseases for Familial Hypercholesterolemia

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Diseases in the Familial Hypercholesterolemia family:

Apob-Related Familial Hypercholesterolemia, Autosomal Dominant Ldlr-Related Familial Hypercholesterolemia, Autosomal Dominant
Pcsk9-Related Familial Hypercholesterolemia, Autosomal Dominant Hypercholesterolemia
Hypercholesterolemia, Familial, Autosomal Recessive 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 156)
idRelated DiseaseScoreTop Affiliating Genes
1hypercholesterolemia32.1COG2, PCSK9, HMGCR, ABCA1, APOE, APOB
2familial combined hyperlipidemia31.5APOB, APOE, HMGCR
3atherosclerosis30.9APOB, ABCA1, APOA4, APOE, HMGCR, PCSK9
4xanthomatosis30.9APOB, LDLR, LDLRAP1, ABCA1, APOE
5familial hypertriglyceridemia30.8APOB, APOE
6ldl cholesterol level qtl230.8LDLR
7sitosterolemia30.7HMGCR
8hyperalphalipoproteinemia30.6CETP, LDLR, ABCA1, APOB
9peripheral vascular disease30.6HMGCR, CETP, APOB
10hypoalphalipoproteinemia30.6CETP, LDLR, APOB, ABCA1
11myocardial infarction30.6APOE, APOA4, APOB, PON2, CETP, COG2
12venous thrombosis30.6APOB, CETP, HMGCR
13coronary stenosis30.6APOB, CETP
14arteriosclerosis30.5COG2, HMGCR, LDLR, APOB
15hyperlipidemia type 330.5APOE, APOB, LDLR, CETP, HMGCR, COG2
16abetalipoproteinemia30.5APOB, APOE, PCSK9, CETP
17hypertension30.5APOE, APOB, EPHX2, COG2
18nephrotic syndrome30.4APOB, APOE, CETP, HMGCR
19vascular disease30.4APOB, LDLR, APOA4, HMGCR, APOE, ABCA1
20hypertriglyceridemia30.3ABCA1, APOA4, APOE, APOB, LDLR, CETP
21hepatitis30.2EPHX2, LDLR, GHR
22familial hyperlipidemia30.2APOE, APOB, LDLR, CETP, HMGCR, PCSK9
23insulin resistance29.8APOA4, APOB, COG2, HMGCR, GHR, CETP
24diabetes mellitus29.7HMGCR, COG2, PON2, GHR, CETP, APOA4
25artery disease10.7
26hereditary leiomyomatosis and renal cell cancer10.6
27fumarate hydratase deficiency10.6
28defective apolipoprotein b-10010.6
29endotheliitis10.5
30lipoprotein glomerulopathy10.5APOE
31leiomyomatosis10.5
32supravalvular aortic stenosis10.4
33norum disease10.4APOB, APOE
34age related macular degeneration10.4APOB, APOE
35leiomyoma10.4
36stroke, hemorrhagic10.4HMGCR, APOE
37hepatoblastoma10.4APOB, HMGCR, LDLR
38hypobetalipoproteinemia10.4PCSK9, LDLR, APOB, APOE
39hyperaldosteronism, familial, type iii10.3
40aortic disease10.3LDLR, APOE
41alzheimer disease type 210.3APOE, CETP
42metabolic syndrome x10.3CETP, ABCA1, APOB, LDLR
43tangier disease10.3APOE, APOB, CETP, ABCA1
44histiocytosis-lymphadenopathy plus syndrome10.3
45fatty liver disease10.3HMGCR, COG2, CETP, APOB
46papillary renal cell carcinoma10.3
47renal cell carcinoma10.3
48leiomyosarcoma10.3
49uterine fibroid10.3
50cerebral amyloid angiopathy10.3APOE, ABCA1

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 UMLS61/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 Hypercholesterolemia21 23
2 Familial Hypercholesterolemias23

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, APOE, LDLR
2MP:00053709.3ABCA1, APOE, APOB, LDLR, GHR, PCSK9
3MP:00053859.1ABCA1, APOA4, APOE, APOB, PON2, EPHX2
4MP:00107688.8APOA4, APOE, APOB, LDLR, GHR, FH
5MP:00053978.7ABCA1, APOA4, APOE, PON2, LDLR, GHR
6MP:00053878.5ABCA1, APOA4, APOE, PON2, LDLR, GHR
7MP:00053768.5TRIB1, ABCA1, APOA4, APOE, 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:

63 (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:

7 (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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets, 31LifeMap Discovery®
See all sources
LifeMap Discovery
Genes differentially expressed in tissues of Familial Hypercholesterolemia patients vs. healthy controls: 31 (show all 17)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1RIMS2regulating synaptic membrane exocytosis 2Blood+2.580.001
2OSMoncostatin MBlood+2.330.014
3CALB1calbindin 1, 28kDaBlood+2.210.019
4C18orf54chromosome 18 open reading frame 54Blood+2.140.028
5KIR3DL3killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3Blood+2.100.023
6SMG1P2SMG1 pseudogene 2Blood+2.060.010
7TNFRSF10Ctumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domainBlood+1.990.024
8FCARFc fragment of IgA, receptor forBlood+1.960.043
9KIR3DS1killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1Blood+1.940.043
10KCNT2potassium channel, subfamily T, member 2Blood+1.900.045
11LOC646903uncharacterized LOC646903Blood+1.890.026
12PKP2plakophilin 2Blood+1.850.045
13KIR2DL1killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1Blood+1.840.030
14FBXO10F-box protein 10Blood+1.810.035
15NETO1neuropilin (NRP) and tolloid (TLL)-like 1Blood+1.800.025
16SLC19A1solute carrier family 19 (folate transporter), member 1Blood+1.740.048
17HOXB6homeobox B6Blood+1.620.048

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
310.1APOA4, ABCA1
4
Show member pathways
Vitamin B12 Metabolism37
10.1APOE, ABCA1
5
Show member pathways
9.9APOB, APOA4, ABCA1
69.9HMGCR, LDLR, ABCA1
7
Show member pathways
9.8APOA4, APOE, APOB, LDLR
8
Show member pathways
thioredoxin pathway37
9.7ABCA1, APOB, SELO, LDLR
9
Show member pathways
9.2ABCA1, APOA4, APOE, APOB, LDLR, LDLRAP1
10
Show member pathways
9.2HMGCR, ABCA1, APOA4, APOE, APOB, LDLR
11
Show member pathways
9.1APOA4, APOE, APOB, OR13G1, CXCL3, LDLR
12
Show member pathways
8.5ABCA1, APOA4, APOE, APOB, PON2, 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 112)
idCompoundScoreTop Affiliating Genes
1psyllium4410.2CETP, LDLR, HMGCR, APOB
2ciprofibrate44 2911.2APOB, EPHX2, LDLR, HMGCR
3colestipol4410.1HMGCR, COG2, APOB
4sitosterol4410.0HMGCR, APOB, APOE
5intralipid4410.0APOA4, APOE, APOB, CETP
6mspi4410.0LDLR, APOA4, APOB, CETP
724s-hydroxy-cholesterol4410.0ABCA1, APOE, HMGCR
8retinyl palmitate44 2511.0APOA4, APOB, APOE, COG2
9xbai4410.0APOA4, CETP, APOE, APOB, LDLR
10lathosterol44 2511.0HMGCR, CETP, LDLR, APOB, APOE
11lomitapide50 1210.9LDLR, PCSK9, APOB
12campesterol44 2510.9APOE, HMGCR, APOB
13oleic acid44 29 25 1212.9CETP, LDLR, APOA4, ABCA1, APOB
14probucol44 1210.8APOE, APOB, LDLR, HMGCR, CETP, ABCA1
15ritonavir44 50 1211.8APOA4, HMGCR, LDLR, APOE
16lactacystin449.8HMGCR, APOE, ABCA1, GHR, APOB
17chenodeoxycholic acid44 29 25 1212.8HMGCR, CETP, LDLR, APOB
18ezetimibe44 1210.8APOB, LDLR, COG2, ABCA1, CETP, HMGCR
19niacin44 1210.8APOB, COG2, CETP, HMGCR, LDLR, ABCA1
20alpha tocopherol449.7ABCA1, HMGCR, CETP, LDLR, APOB, APOE
21cholestyramine449.7LDLR, CETP, COG2, HMGCR, APOB, APOE
22phosphatidylcholine449.7APOE, ABCA1, APOB, CETP, APOA4, LDLR
23vitamin a44 25 1211.7GHR, APOB, APOE, APOA4, LDLR, CETP
24gemfibrozil29 44 1211.7HMGCR, COG2, LDLR, CETP, APOB, APOE
25rosuvastatin44 50 29 1212.7HMGCR, LDLR, APOB, APOE, CETP, COG2
26palmitate449.7APOE, APOB, LDLR, CETP, GHR, COG2
27triacylglycerol449.7LDLR, APOB, COG2, APOA4, APOE, CETP
28fluvastatin44 50 29 1212.7APOE, APOB, LDLR, CETP, COG2, HMGCR
29lovastatin44 50 60 29 1213.7LDLR, APOE, HMGCR, CETP, APOB, COG2
30tamoxifen44 50 29 1212.6GHR, CETP, LDLR, EPHX2, APOB, APOE
31glutamine449.5GHR, CETP, LDLR, APOA4, APOE, APOB
32bezafibrate44 29 1211.5APOE, ABCA1, HMGCR, COG2, CETP, LDLR
33pravastatin44 50 29 25 1213.5LDLR, APOE, APOB, ABCA1, CETP, HMGCR
34atorvastatin44 50 29 25 1213.5COG2, CETP, HMGCR, APOB, APOE, ABCA1
35thyroxine44 2510.5GHR, APOB, COG2, LDLR, HMGCR, CETP
36simvastatin44 50 60 29 25 1214.5ABCA1, CETP, LDLR, APOB, HMGCR, APOE
37aspirin44 50 29 2512.5APOB, ABCA1, HMGCR, COG2, CETP, APOE
38fatty acid449.4GHR, APOA4, FH, LDLR, APOB, ABCA1
39sterol449.4APOB, CETP, APOE, COG2, ABCA1, LDLR
40fenofibrate44 50 1211.4LDLR, APOB, ABCA1, APOE, CETP, COG2
41cholesterol ester449.3HMGCR, CETP, LDLR, APOB, APOE, APOA4
42creatinine449.3FH, APOE, GHR, APOB, APOA4, COG2
43testosterone44 60 25 1212.3COG2, GHR, LDLR, EPHX2, APOB, APOE
44heparin44 29 25 1212.3APOE, HMGCR, COG2, CETP, LDLR, APOB
45phospholipid449.3LDLR, APOA4, COG2, CETP, PON2, APOB
46cyclosporin a44 29 6011.2COG2, CETP, LDLR, APOE, ABCA1, HMGCR
47serine449.0ABCA1, CETP, GHR, APOE, HMGCR, PCSK9
48lipid448.9APOA4, ABCA1, PCSK9, COG2, HMGCR, LDLR
49dexamethasone44 50 29 1211.9ABCA1, GHR, CD93, HMGCR, LDLR, EPHX2
50cholesterol44 29 25 1211.6ABCA1, APOA4, APOE, APOB, PON2, LDLR

GO Terms for genes affiliated with Familial Hypercholesterolemia

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1intermediate-density lipoprotein particleGO:03436310.2APOE, APOB
2low-density lipoprotein particleGO:03436210.2APOE, LDLR, APOB
3extrinsic component of external side of plasma membraneGO:03123210.2PCSK9, APOE
4chylomicronGO:04262710.1APOA4, APOE, APOB
5very-low-density lipoprotein particleGO:03436110.1APOB, APOA4, APOE
6high-density lipoprotein particleGO:03436410.0CETP, APOA4, APOE
7lysosomeGO:00576410.0PON2, LDLR, PCSK9
8late endosomeGO:00577010.0LDLR, APOE, PCSK9
9endocytic vesicle lumenGO:0716829.8APOB, APOE
10early endosomeGO:0057699.7APOA4, APOE, APOB, LDLR, LDLRAP1, PCSK9
11cell surfaceGO:0099869.6ABCA1, LDLR, PCSK9, CD93, GHR, APOA4
12Golgi apparatusGO:0057949.5PCSK9, APOB, APOE, ABCA1, LDLR
13extracellular spaceGO:0056159.2APOB, CXCL3, GHR, APOA4, PCSK9, CETP
14extracellular regionGO:0055769.1APOB, CETP, GHR, CXCL3, PON2, APOA4

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

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1low-density lipoprotein particle clearanceGO:03438310.4APOB, LDLR
2lipoprotein biosynthetic processGO:04215810.3APOB, APOE
3regulation of Cdc42 protein signal transductionGO:03248910.3APOE, ABCA1
4cholesterol transportGO:03030110.3LDLR, APOB, CETP
5high-density lipoprotein particle assemblyGO:03438010.3APOE, ABCA1
6lipoprotein catabolic processGO:04215910.3LDLR, APOE, APOB
7phosphatidylcholine metabolic processGO:04647010.3APOA4, CETP
8positive regulation of cholesterol esterificationGO:01087310.3APOE, APOA4
9phospholipid homeostasisGO:05509110.3CETP, ABCA1
10low-density lipoprotein particle remodelingGO:03437410.2CETP, APOE, APOB
11phospholipid effluxGO:03370010.2APOA4, ABCA1, APOE
12very-low-density lipoprotein particle remodelingGO:03437210.2CETP, APOE, APOA4
13triglyceride metabolic processGO:00664110.2APOE, PCSK9, CETP
14positive regulation of cholesterol effluxGO:01087510.2ABCA1, APOE
15high-density lipoprotein particle remodelingGO:03437510.1APOE, APOA4, CETP
16cellular response to cholesterolGO:07139710.1APOE, ABCA1
17negative regulation of macrophage derived foam cell differentiationGO:01074510.1ABCA1, CETP
18artery morphogenesisGO:04884410.1APOB, APOE
19retinoid metabolic processGO:00152310.1LDLR, APOA4, APOE, APOB
20cholesterol effluxGO:03334410.1APOA4, APOE, ABCA1, APOB
21phospholipid transportGO:01591410.0LDLR, CETP
22phototransduction, visible lightGO:00760310.0APOA4, APOE, LDLR, APOB
23reverse cholesterol transportGO:04369110.0APOA4, ABCA1, APOE, CETP
24receptor-mediated endocytosisGO:00689810.0APOE, APOB, LDLR, CETP, LDLRAP1
25lipid homeostasisGO:0550889.8CETP, APOA4
26lipoprotein metabolic processGO:0421579.6PCSK9, CETP, LDLR, APOB, APOE, APOA4
27cholesterol metabolic processGO:0082039.5LDLR, CETP, LDLRAP1, APOB, APOE, APOA4
28cholesterol homeostasisGO:0426329.3PCSK9, CETP, ABCA1, APOA4, APOE, APOB
29small molecule metabolic processGO:0442819.2APOA4, APOB, EPHX2, LDLR, CETP, FH

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1very-low-density lipoprotein particle receptor bindingGO:07032610.3PCSK9, APOE
2phospholipid transporter activityGO:00554810.3CETP, ABCA1
3apolipoprotein bindingGO:03418510.3ABCA1, PCSK9
4phosphatidylcholine-sterol O-acyltransferase activator activityGO:06022810.3APOE, APOA4
5low-density lipoprotein particle bindingGO:03016910.2PCSK9, LDLR
6phosphatidylcholine bindingGO:03121010.1APOA4, CETP
7lipid transporter activityGO:00531910.1APOA4, APOE, CETP
8phospholipid bindingGO:00554310.1ABCA1, APOE, APOB
9beta-amyloid bindingGO:00154010.1LDLRAP1, APOE
10low-density lipoprotein particle receptor bindingGO:05075010.1APOE, APOB, LDLRAP1, PCSK9
11cholesterol transporter activityGO:0171279.8CETP, APOB, APOE, APOA4, ABCA1
12lipid bindingGO:0082899.7APOA4, APOE, CETP
13antioxidant activityGO:0162099.7APOE, APOA4
14protein homodimerization activityGO:0428039.6HMGCR, GHR, EPHX2, APOE, APOA4

Products for genes affiliated with Familial Hypercholesterolemia

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  • Antibodies
  • Proteins
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Sources for Familial Hypercholesterolemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet