MCID: HYP607
MIFTS: 81

Hypercholesterolemia, Familial malady

Genetic diseases, Rare diseases categories

Summaries for Hypercholesterolemia, Familial

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NIH Rare Diseases:41 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: Hypercholesterolemia, Familial, also known as familial hypercholesterolemia, is related to hypercholesterolemia, familial, autosomal recessive and hypercholesterolemia, due to ligand-defective apo b, and has symptoms including corneal arcus, xanthelasma and autosomal dominant inheritance. An important gene associated with Hypercholesterolemia, Familial is LDLR (low density lipoprotein receptor), and among its related pathways are SREBF and miR33 in cholesterol and lipid homeostasis and Nuclear receptors in lipid metabolism and toxicity. The drugs cholestyramine resin and clofibrate and the compounds lomitapide and 27-hydroxycholesterol have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and skin, and related mouse phenotypes are other and growth/size/body.

Disease Ontology:9 A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (ldl) and early cardiovascular disease.

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

OMIM:45 Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound... (143890) more...

Wikipedia:63 Familial hypercholesterolemia (abbreviated FH, also spelled familial hypercholesterolaemia) is a genetic... more...

GeneReviews summary for hyperchol

Aliases & Classifications for Hypercholesterolemia, Familial

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Hypercholesterolemia, Familial, Aliases & Descriptions:

Name: Hypercholesterolemia, Familial 45 10 30 60
Familial Hypercholesterolemia 30 9 19 41
Hypercholesterolemia 45 21 43 60
Hypercholesterolemia, Autosomal Dominant 19 41 43
Familial Hypercholesterolaemia 19 20
Hypercholesterolemia Familial 43 22
Hyperbetalipoproteinemia 9 41
Coronary Artery Disease in Familial Hypercholesterolemia, Protection Against 45
Hypercholesterolemia, Familial, Due to Ldlr Defect, Modifier of 45
Hypercholesterolemia, Familial, Modifier of 45
Fredrickson Type Iia Hyperlipoproteinemia 9
Familial Hyperbetalipoproteinaemia 9
High Serum Cholesterol, Familial 41
Fredrickson Type Iia Lipidaemia 9
Hyperlipoproteinemia, Type Iia 19
 
Hyperlipoproteinemia, Type 2 a 41
Hyperlipoproteinemia Type Iia 60
Hyperlipoproteinemia Type Iib 60
Hyperlipoproteinemia Type Ii 41
Familial Hypercholesteremia 9
Hyperlipoproteinemia Type 2 41
Ldl Cholesterol Level Qtl2 45
Hyper-Beta-Lipoproteinemia 41
Hyperlipidema, Familial 41
Type Ii Hyperlipidemia 9
Ldl Receptor Disorder 41
Elevated Cholesterol 21
Fhc 41
Fh 41


Classifications:

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


External Ids:

OMIM45 143890
Disease Ontology9 DOID:13810
MeSH33 D006938
NCIt38 C34704

Related Diseases for Hypercholesterolemia, Familial

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Diseases in the Hypercholesterolemia, Familial family:

Hypercholesterolemia, Familial, Autosomal Recessive Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Due to Ligand-Defective Apo B Apob-Related Familial Hypercholesterolemia, Autosomal Dominant
Ldlr-Related Familial Hypercholesterolemia, Autosomal Dominant Pcsk9-Related Familial Hypercholesterolemia, Autosomal Dominant

Diseases related to Hypercholesterolemia, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 239)
idRelated DiseaseScoreTop Affiliating Genes
1hypercholesterolemia, familial, autosomal recessive31.0LDLR, LDLRAP1, PCSK9
2hypercholesterolemia, due to ligand-defective apo b31.0APOB, LDLR
3sitosterolemia30.9CYP7A1
4coronary artery disease30.9LDLR, APOB, APOA1, ABCA1
5hyperlipidemia, familial combined30.8APOB, APOA1
6hypertriglyceridemia30.7APOB, APOA2, APOA1
7hyperlipidemia type 330.7APOA1, APOB, LDLR
8hypothyroidism30.5CYP7A1, APOB, LDLR, GHR
9nephrotic syndrome30.5PLA2G7, APOB, APOA1
10hepatitis30.5EPHX2, LDLR, GHR, OTC
11glucose intolerance30.4APOB, APOA4, CYP7A1
12xanthomatosis30.4ABCA1, CYP7A1, APOB, LDLR, LDLRAP1
13arteriosclerosis30.3LDLR, APOB, APOA1
14arcus senilis30.3APOA1, APOB
15abetalipoproteinemia30.2APOA1, APOB, PLA2G7, PCSK9
16peripheral vascular disease30.2APOB, APOA1
17cerebrovascular disease30.1APOA1, APOB, LDLR
18coronary stenosis30.1APOA1, APOB
19hyperglycemia30.0GHR, APOB, APOA4
20fish-eye disease29.9APOA1, APOA2
21norum disease29.9APOA1, APOA2
22hypoalphalipoproteinemia29.8ABCA1, APOA1, APOA2, APOB, LDLR
23hyperalphalipoproteinemia29.6ABCA1, APOA1, APOA2, APOB, LDLR
24myocardial infarction29.6ABCA1, APOA4, APOA1, APOA2, APOB, PON2
25familial hyperlipidemia29.5APOA1, APOA2, APOB, LDLR, PCSK9
26obesity29.5ABCA1, APOA4, APOA1, APOA2, APOB, LDLR
27vascular disease29.5ABCA1, APOA4, APOA1, APOB, LDLR, PLA2G7
28atherosclerosis29.4PCSK9, ABCA1, CYP7A1, APOA4, APOA1, APOA2
29homozygous familial hypercholesterolemia10.9
30leiomyomatosis and renal cell cancer10.7
31fumarase deficiency10.7
32endotheliitis10.7
33artery disease10.6
34fumarate hydratase deficiency10.6
35blindness10.5
36leiomyomatosis10.5
37chylomicron retention disease10.5APOB
38renal cell carcinoma10.4
39leiomyoma10.4
40cerebritis10.4
41histiocytosis-lymphadenopathy plus syndrome10.3
42hypercholesterolemia, familial, 310.3
43defective apolipoprotein b-10010.3
44leiomyosarcoma10.3
45uterine fibroid10.3
46ischemic heart disease10.3
47fitz-hugh-curtis syndrome10.3
48floating-harbor syndrome10.3
49ischemia10.2
50waardenburg's syndrome10.2

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



Diseases related to hypercholesterolemia, familial

Symptoms for Hypercholesterolemia, Familial

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Symptoms by clinical synopsis from OMIM:

143890

Clinical features from OMIM:

143890

HPO human phenotypes related to Hypercholesterolemia, Familial:

(show all 8)
id Description Frequency HPO Source Accession
1 corneal arcus HP:0001084
2 xanthelasma HP:0001114
3 autosomal dominant inheritance HP:0000006
4 abnormality of the skin HP:0000951
5 hypertriglyceridemia HP:0002155
6 atheromatosis HP:0002635
7 hypercholesterolemia HP:0003124
8 hyperbetalipoproteinemia HP:0003141

Drugs & Therapeutics for Hypercholesterolemia, Familial

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Drug clinical trials:

Search ClinicalTrials for Hypercholesterolemia, Familial

Search NIH Clinical Center for Hypercholesterolemia, Familial

Inferred drug relations via UMLS60/NDF-RT39:

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Hypercholesterolemia, Familial cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Hypercholesterolemia, Familial:
Hepatocyte transplantation for treatment of liver disorders
Hepatocyte transplantation for treatment of liver failure and inherited metabolic diseases
Embryonic/Adult Cultured Cells Related to Hypercholesterolemia, Familial:
Hepatocytes, PMIDs: 15239608, 12777539, 9580649, 22789058, 22167636
Hepatocytes

Genetic Tests for Hypercholesterolemia, Familial

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Genetic tests related to Hypercholesterolemia, Familial:

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

Anatomical Context for Hypercholesterolemia, Familial

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MalaCards organs/tissues related to Hypercholesterolemia, Familial:

31
Brain, Heart, Skin, Liver

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Animal Models for Hypercholesterolemia, Familial or affiliated genes

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MGI Mouse Phenotypes related to Hypercholesterolemia, Familial:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.4ABCA1, APOA4, APOA2, LDLR
2MP:00053788.0CYP7A1, APOA2, APOB, LDLR, GHR, OTC
3MP:00053857.8ABCA1, APOA4, APOA1, APOB, PON2, EPHX2
4MP:00053977.6ABCA1, APOA4, APOA1, PON2, LDLR, GHR
5MP:00053877.5ABCA1, APOA4, APOA1, PON2, LDLR, GHR
6MP:00053847.5ABCA1, APOA4, APOA1, PON2, LDLR, ITIH4
7MP:00107687.4ABCA1, CYP7A1, APOA4, APOB, LDLR, GHR
8MP:00053707.3ABCA1, CYP7A1, APOA1, APOB, LDLR, ITIH4
9MP:00053765.6OTC, ABCA1, CYP7A1, APOA4, APOA1, APOA2

Publications for Hypercholesterolemia, Familial

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Articles related to Hypercholesterolemia, Familial:

idTitleAuthorsYear
1
Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family]. (18247305)
2008
2
Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia. (10073989)
1999
3
Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method. (1301940)
1992

Variations for Hypercholesterolemia, Familial

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UniProtKB/Swiss-Prot genetic disease variations for Hypercholesterolemia, Familial:

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

Clinvar genetic disease variations for Hypercholesterolemia, Familial:

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

Expression for genes affiliated with Hypercholesterolemia, Familial

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LifeMap Discovery
Genes differentially expressed in tissues of Hypercholesterolemia, Familial patients vs. healthy controls: 30
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1ZNF267zinc finger protein 267Blood+3.440.000
2CHMP5charged multivesicular body protein 5Blood+3.360.000

Search GEO for disease gene expression data for Hypercholesterolemia, Familial.

Pathways for genes affiliated with Hypercholesterolemia, Familial

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Pathways related to Hypercholesterolemia, Familial according to GeneCards Suite gene sharing:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0LDLR, ABCA1
29.7CYP7A1, ABCA1
3
Show member pathways
Vitamin B12 Metabolism36
9.7APOA1, ABCA1
49.2APOB, APOA1, APOA4
5
Show member pathways
fatty acid beta-oxidation VI (peroxisome)36
9.2CYP7A1, APOA1, APOA2
6
Show member pathways
thioredoxin pathway36
9.1ABCA1, APOA1, APOB, LDLR
79.0ABCA1, APOA4, APOA1, APOA2
8
Show member pathways
8.9APOB, APOA1, APOA4, ABCA1
9
Show member pathways
8.9ABCA1, CYP7A1, APOA1, APOA2
108.7APOA4, APOA1, APOA2, APOB, LDLR
11
Show member pathways
8.7LDLR, APOB, APOA2, APOA1, APOA4
12
Show member pathways
8.5APOA4, APOA1, APOA2, APOB, LDLR, GHR
13
Show member pathways
8.1LDLRAP1, ABCA1, APOA4, APOA1, APOA2, APOB
14
Show member pathways
8.0ABCA1, CYP7A1, APOA4, APOA1, APOA2, APOB
15
Show member pathways
5.2APOA2, APOA1, APOA4, CYP7A1, ABCA1, APOB

Compounds for genes affiliated with Hypercholesterolemia, Familial

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Compounds related to Hypercholesterolemia, Familial according to GeneCards Suite gene sharing:

(show top 50)    (show all 112)
idCompoundScoreTop Affiliating Genes
1lomitapide49 1210.9LDLR, APOB, PCSK9
227-hydroxycholesterol43 2810.8LDLR, ABCA1, CYP7A1
3cholestyramine439.7LDLR, APOB, CYP7A1
4lathosterol43 2410.7LDLR, APOB, CYP7A1
522r-hydroxycholesterol43 2810.6ABCA1, LDLR, APOA1
6gestodene43 1210.6GHR, APOB, APOA1
7ciprofibrate43 2810.6APOA1, APOB, EPHX2, LDLR
8xbai439.5APOA4, LDLR, APOB
9dextran sulfate439.5APOB, LDLR, ITIH4, APOA1
10probucol43 1210.5ABCA1, LDLR, APOB, APOA1
11gemfibrozil28 43 1211.5LDLR, APOB, APOA2, APOA1
12ezetimibe43 1210.5ABCA1, APOB, LDLR, APOA1
13niacin43 1210.5APOB, LDLR, ABCA1, APOA1
14dimyristoylphosphatidylcholine439.4APOA4, APOA2, LDLR, APOA1
15retinyl palmitate43 2410.3APOA4, APOB, APOA1
16intralipid439.3APOA2, APOA4, APOB, APOA1
17phosphoenolpyruvate43 1210.2GHR, FH, OTC, CYP7A1
18ecori439.2OTC, LDLR, APOB, CYP7A1
19vitamin a43 24 1211.1APOB, LDLR, APOA1, APOA4, GHR
20pravastatin43 49 28 24 1213.0LDLR, APOB, APOA1, CYP7A1, ABCA1
21tamoxifen43 49 28 1211.9LDLR, APOB, EPHX2, APOA1, GHR
22chloramphenicol43 2 49 1211.9APOB, GHR, OTC, LDLR, CYP7A1
23fluvastatin43 49 28 1211.9APOB, APOA1, PLA2G7, LDLR
24alpha tocopherol438.8ABCA1, APOA1, APOB, LDLR
25bezafibrate43 28 1210.8ABCA1, LDLR, APOA1, APOA2, CYP7A1, APOB
26carnitine438.8ABCA1, APOA1, APOB, OTC
27sterol438.7APOB, LDLR, APOA1, CYP7A1, PCSK9, ABCA1
28aspirin43 49 28 2411.6APOB, LDLR, PLA2G7, ABCA1, APOA1
29mspi438.5APOA4, APOA1, APOA2, LDLR, OTC, APOB
30cycloheximide438.5GHR, ITIH4, LDLR, ABCA1, APOB, PLA2G7
31testosterone43 59 24 1211.5ABCA1, GHR, APOA1, APOB, LDLR, EPHX2
32aspartate438.5APOA1, EPHX2, LDLR, GHR, ITIH4, OTC
33creatinine438.4OTC, FH, APOB, APOA1, APOA4, GHR
34oleic acid43 28 24 1211.4PLA2G7, ABCA1, CYP7A1, APOA4, APOB, LDLR
35triacylglycerol438.3APOA2, APOB, APOA1, APOA4, LDLR, PLA2G7
36glutamine438.3OTC, GHR, LDLR, EPHX2, APOB, APOA2
37atorvastatin43 49 28 24 1212.2PLA2G7, LDLR, APOB, APOA1, CYP7A1, ABCA1
38fenofibrate43 49 1210.2PLA2G7, LDLR, EPHX2, ABCA1, APOA1, APOA2
39fibrinogen438.2APOA4, PLA2G7, ABCA1, APOA1, APOA2, APOB
40glutamate438.1EPHX2, OTC, GHR, ITIH4, LDLR, APOB
41dexamethasone43 49 28 1210.7GHR, LDLR, APOA1, CYP7A1, ABCA1, APOB
42estrogen437.7GHR, APOA1, APOB, EPHX2, LDLR, CYP7A1
43cholesterol ester437.6APOA4, APOA2, APOB, LDLR, PLA2G7, APOA1
44phosphatidylcholine437.6LDLR, ABCA1, APOA4, APOA1, APOA2, CYP7A1
45phospholipid437.5PON2, APOA1, APOB, APOA2, APOA4, ABCA1
46fatty acid437.5PLA2G7, APOB, APOA2, APOA4, GHR, FH
47serine436.9APOB, APOA1, PLA2G7, LDLR, ABCA1, APOA4
48glucose436.2OTC, APOA1, CYP7A1, APOA4, FH, GHR
49cholesterol43 28 24 129.1PON2, GHR, LDLR, PLA2G7, PCSK9, APOA2
50lipid436.1CYP7A1, PLA2G7, PCSK9, OTC, LDLR, ABCA1

GO Terms for genes affiliated with Hypercholesterolemia, Familial

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Cellular components related to Hypercholesterolemia, Familial according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1clathrin-coated endocytic vesicle membraneGO:00306699.9LDLR, APOB
2spherical high-density lipoprotein particleGO:00343669.7APOA1, APOA2
3chylomicronGO:00426279.7APOA4, APOA2, APOB
4endocytic vesicle lumenGO:00716829.6APOB, APOA1
5high-density lipoprotein particleGO:00343649.5APOA4, APOA1, APOA2
6low-density lipoprotein particleGO:00343629.3PLA2G7, LDLR, APOB
7very-low-density lipoprotein particleGO:00343619.2APOB, APOA2, APOA1, APOA4
8blood microparticleGO:00725629.2ITIH4, APOA2, APOA1, APOA4
9cell surfaceGO:00099869.1ABCA1, APOA4, LDLR, GHR, PCSK9
10lysosomeGO:00057649.1PCSK9, LDLR, PON2
11endoplasmic reticulum lumenGO:00057889.1APOB, APOA2, APOA1, APOA4
12extracellular spaceGO:00056158.5APOA4, APOA1, APOB, GHR, PCSK9
13early endosomeGO:00057698.3PCSK9, APOA4, APOA1, APOA2, APOB, LDLR
14extracellular regionGO:00055767.3APOA4, APOA1, APOA2, APOB, PON2, ITIH4

Biological processes related to Hypercholesterolemia, Familial according to GeneCards Suite gene sharing:

(show all 34)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein catabolic processGO:004215910.2APOB, LDLR
2cholesterol importGO:007050810.1APOA1, LDLR
3low-density lipoprotein particle clearanceGO:003438310.0LDLR, APOB
4negative regulation of lipase activityGO:006019210.0APOA1, APOA2
5negative regulation of very-low-density lipoprotein particle remodelingGO:001090310.0APOA1, APOA2
6negative regulation of cytokine secretion involved in immune responseGO:00027409.9APOA2, APOA1
7regulation of Cdc42 protein signal transductionGO:00324899.9ABCA1, APOA1
8protein oxidationGO:00181589.9APOA2, APOA1
9receptor internalizationGO:00316239.9GHR, LDLRAP1
10lipoprotein biosynthetic processGO:00421589.9APOB, APOA1
11peptidyl-methionine modificationGO:00182069.9APOA2, APOA1
12high-density lipoprotein particle clearanceGO:00343849.8APOA2, APOA1
13receptor-mediated endocytosisGO:00068989.8APOB, LDLR, LDLRAP1
14cholesterol transportGO:00303019.7APOA1, APOB, LDLR
15high-density lipoprotein particle assemblyGO:00343809.7APOA2, APOA1, ABCA1
16cellular response to cholesterolGO:00713979.7ABCA1, CYP7A1
17phospholipid homeostasisGO:00550919.7APOA1, ABCA1
18regulation of intestinal cholesterol absorptionGO:00303009.6APOA4, APOA1, APOA2
19positive regulation of cholesterol esterificationGO:00108739.6APOA4, APOA1, APOA2
20high-density lipoprotein particle remodelingGO:00343759.6APOA4, APOA1, APOA2
21phosphatidylcholine biosynthetic processGO:00066569.6APOA2, APOA1
22triglyceride metabolic processGO:00066419.5PCSK9, APOA2
23low-density lipoprotein particle remodelingGO:00343749.4PLA2G7, APOB, APOA2
24phospholipid effluxGO:00337009.4ABCA1, APOA4, APOA1, APOA2
25reverse cholesterol transportGO:00436919.3ABCA1, APOA4, APOA1, APOA2
26cellular lipid metabolic processGO:00442559.2ABCA1, CYP7A1, APOA1, APOA2
27retinoid metabolic processGO:00015239.1APOA4, APOA1, APOA2, APOB, LDLR
28phototransduction, visible lightGO:00076039.1LDLR, APOB, APOA2, APOA1, APOA4
29cholesterol effluxGO:00333449.0ABCA1, APOA4, APOA1, APOA2, APOB
30response to drugGO:00424938.9ABCA1, APOA1, APOA2, OTC
31lipoprotein metabolic processGO:00421578.4PCSK9, LDLR, APOB, APOA2, APOA1, APOA4
32cholesterol metabolic processGO:00082038.1APOA2, APOA1, APOA4, ABCA1, APOB, LDLR
33cholesterol homeostasisGO:00426327.4PCSK9, LDLRAP1, LDLR, EPHX2, APOB, APOA2
34small molecule metabolic processGO:00442817.2ABCA1, CYP7A1, APOA4, APOA1, APOA2, APOB

Molecular functions related to Hypercholesterolemia, Familial according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein bindingGO:003418510.0ABCA1, PCSK9
2high-density lipoprotein particle receptor bindingGO:00706539.9APOA2, APOA1
3phosphatidylcholine bindingGO:00312109.9APOA4, APOA2
4lipase inhibitor activityGO:00551029.9APOA1, APOA2
5low-density lipoprotein particle bindingGO:00301699.9PCSK9, LDLR
6phospholipid transporter activityGO:00055489.9ABCA1, APOA1
7lipid transporter activityGO:00053199.9APOA2, APOA4
8high-density lipoprotein particle bindingGO:00080359.8APOA2, APOA1
9low-density lipoprotein particle receptor bindingGO:00507509.7PCSK9, LDLRAP1, APOB
10cholesterol bindingGO:00154859.6ABCA1, APOA1, APOA2
11apolipoprotein receptor bindingGO:00341909.6APOA1, APOA2, PCSK9
12phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.5APOA2, APOA1, APOA4
13beta-amyloid bindingGO:00015409.5APOA1, LDLRAP1
14protein homodimerization activityGO:00428039.0GHR, EPHX2, APOA2, APOA4
15cholesterol transporter activityGO:00171279.0APOB, APOA2, APOA1, APOA4, ABCA1
16phospholipid bindingGO:00055437.9ABCA1, APOA1, APOA2, APOB, PLA2G7, OTC
17protein bindingGO:00055157.6APOA1, APOA2, APOB, LDLR, LDLRAP1, ITIH4

Products for genes affiliated with Hypercholesterolemia, Familial

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  • Antibodies
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Sources for Hypercholesterolemia, Familial

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet