MCID: STS003
MIFTS: 62

Sitosterolemia malady

Genetic diseases, Rare diseases, Endocrine diseases, Blood diseases categories

Summaries for Sitosterolemia

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22Genetics Home Reference, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 Sitosterolemia is a condition in which fatty substances (lipids) from vegetable oils, nuts, and other plant-based foods accumulate in the blood and tissues. These lipids are called plant sterols (or phytosterols). Sitosterol is one of several plant sterols that accumulate in this disorder, with a blood level 30 to 100 times greater than normal. Cholesterol, a similar fatty substance found in animal products, is mildly to moderately elevated in many people with sitosterolemia. Cholesterol levels are particularly high in some affected children.

MalaCards: Sitosterolemia, also known as phytosterolemia, is related to xanthomatosis and cerebrotendinous xanthomatosis. An important gene associated with Sitosterolemia is ABCG5 (ATP-binding cassette, sub-family G (WHITE), member 5), and among its related pathways are Vitamin A and carotenoid metabolism and PPAR signaling pathway. The compounds colesevelam and niceritrol have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and spinal cord, and related mouse phenotypes are mortality/aging and liver/biliary system.

Wikipedia:66 Sitosterolemia (also known as \"Phytosterolemia\") is a rare autosomal recessively inherited lipid... more...

Description from OMIM:48 210250

GeneReviews summary for stsl

Aliases & Classifications for Sitosterolemia

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20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
sitosterolemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

sitosterolemia 20 44 21 23 22 48 46 50 63
phytosterolemia 20 44 22 50
mediterranean macrothrombocytopenia 50 63
plant sterol storage disease 44 22
beta-sitosterolemia 20 22
retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body 44
sitosterolemia with xanthomatosis 63
xanthomatosis with sisterolemia 50
phytosterolƦmia 20
phytosterolaemia 22
sitosterolaemia 22
sitosterolƦmia 20


External Ids:

OMIM48 210250
MESH via Orphanet37 C537345
ICD10 via Orphanet27 E78.0, D69.1
SNOMED-CT via Orphanet60 238104009, 60628003
UMLS via Orphanet64 C0342907, C0272281

Related Diseases for Sitosterolemia

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18GeneCards, 19GeneDecks
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Diseases related to Sitosterolemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1xanthomatosis31.1CYP7A1, APOB
2cerebrotendinous xanthomatosis30.3HMGCR, CYP27A1
3smith-lemli-opitz syndrome30.1FDFT1, HMGCR
4familial hypercholesterolemia30.1APOB, HMGCR
5hypercholesterolemia29.9ABCG8, APOB, HMGCR, MTTP, FDFT1, CYP7A1
6atherosclerosis29.7CYP27A1, ABCG8, ABCG5, ABCG1, HMGCR, MTTP
7hepatitis10.2
8splenomegaly10.2
9chylomicron retention disease10.1APOB
10artery disease10.1
11hyperlipidemia type 310.0HMGCR, APOB
12cholelithiasis10.0ABCG8, CYP7A1, ABCG5
13peripheral vascular disease10.0HMGCR, APOB
14familial hyperlipidemia10.0APOB, HMGCR
15familial combined hyperlipidemia10.0HMGCR, APOB
16cerebrovascular disease10.0HMGCR, APOB
17arteriosclerosis10.0APOB, HMGCR
18tangier disease10.0ABCG1, APOB
19lipodystrophy10.0APOB, HMGCR
20venous thrombosis10.0APOB, HMGCR
21stroke, ischemic10.0APOB, HMGCR
22cholestasis10.0CYP7A1, CYP27A1
23metabolic syndrome x10.0ACAT1, CYP7A1, APOB
24hemolytic anemia10.0
25lipid storage disease10.0
26myocardial infarction10.0
27paraplegia10.0
28thrombocytopenia10.0
29hypobetalipoproteinemia10.0APOB, MTTP
30abetalipoproteinemia10.0APOB, MTTP
31hepatoblastoma10.0CYP7A1, APOB, HMGCR, CYP27A1
32glucose intolerance10.0CYP7A1, APOB, MTTP
33fatty liver disease10.0APOB, MTTP, HMGCR
34coronary artery disease10.0MTTP, HMGCR, APOB
35type 2 diabetes mellitus10.0APOB, HMGCR, MTTP
36insulin resistance9.9HMGCR, APOB, MTTP
37hypertriglyceridemia9.9MTTP, CYP7A1, APOB, HMGCR
38obesity9.9FDFT1, APOB, MTTP

Graphical network of the top 20 diseases related to Sitosterolemia:



Diseases related to sitosterolemia

Symptoms for Sitosterolemia

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48OMIM
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Symptoms by clinical synopsis from OMIM:

210250

Clinical features from OMIM:

210250

Drugs & Therapeutics for Sitosterolemia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Sitosterolemia

Drug clinical trials:

Search ClinicalTrials for Sitosterolemia

Search NIH Clinical Center for Sitosterolemia

Search CenterWatch for Sitosterolemia

Genetic Tests for Sitosterolemia

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21GeneTests, 23GTR
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Genetic tests related to Sitosterolemia:

id Genetic test Affiliating Genes
1 Sitosterolemia21 23 ABCG8

Anatomical Context for Sitosterolemia

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34MalaCards
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MalaCards organs/tissues related to Sitosterolemia:

34
Liver, Testes, Spinal cord, Monocytes

Animal Models for Sitosterolemia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Sitosterolemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.5HMGCR, MTTP, FDFT1, APOB, CYP7A1, ABCG5
2MP:00053707.2MTTP, ABCG8, ABCG5, ABCG1, CYP27A1, CYP7A1
3MP:00053767.1ABCG8, ABCG5, ABCG1, CYP27A1, CYP7A1, APOB
4MP:00053787.0ABCG5, ABCG1, CYP7A1, APOB, FDFT1, MTTP

Publications for Sitosterolemia

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53PubMed
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Articles related to Sitosterolemia:

(show top 50)    (show all 71)
idTitleAuthorsYear
1
Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. (24423340)
2014
2
Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia. (23926302)
2013
3
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. (24166850)
2013
4
Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism. (20543520)
2010
5
Genetic inactivation of NPC1L1 protects against sitosterolemia in mice lacking ABCG5/ABCG8. (18796403)
2009
6
Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia. (18156627)
2008
7
Long-term efficacy and safety of ezetimibe 10 mg in patients with homozygous sitosterolemia: a 2-year, open-label extension study. (18822021)
2008
8
Similar serum plant sterol responses of human subjects heterozygous for a mutation causing sitosterolemia and controls to diets enriched in plant sterols or stanols. (17228349)
2007
9
Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis. (16697747)
2006
10
Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities. (17018391)
2006
11
A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans. (16507104)
2006
12
Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues. (16331855)
2005
13
A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol. (15040800)
2004
14
Sitosterolemia in ABC-transporter G5-deficient mice is aggravated on activation of the liver-X receptor. (14699507)
2004
15
Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia. (14769702)
2004
16
Phenotypic heterogeneity of sitosterolemia. (15375183)
2004
17
Sitosterolemia--a rare disease. Are elevated plant sterols an additional risk factor? (15599566)
2004
18
A 19-year-old man with myocardial infarction and sitosterolemia. (12879952)
2003
19
Novel donor splice site mutation of ABCG5 gene in sitosterolemia. (11855938)
2002
20
Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia. (12124998)
2002
21
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. (11668628)
2001
22
Japanese sisters associated with pseudohomozygous familial hypercholesterolemia and sitosterolemia. (11425042)
2000
23
Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis. (9610773)
1998
24
Competitive inhibition of hepatic sterol 27-hydroxylase by sitosterol: decreased activity in sitosterolemia. (9460081)
1998
25
Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. (9727073)
1998
26
Sitosterolemia. (9090303)
1997
27
beta-Sitosterolemia with generalized eruptive xanthomatosis. (9152615)
1997
28
Coronary bypass grafts in a young girl with sitosterolemia. (8781841)
1996
29
A marked and sustained reduction in LDL sterols by diet and cholestyramine in beta-sitosterolemia. (8529322)
1995
30
Deficient ileal 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in sitosterolemia: sitosterol is not a feedback inhibitor of intestinal cholesterol biosynthesis. (8028508)
1994
31
Biochemical studies of inherited diseases related to abnormal cholesterol metabolism. II: Absence of unusual C28 and C29 bile acid homologs in bile and urine of sitosterolemia. (7896564)
1994
32
Inverse relationship between plasma cholestanol concentrations and bile acid synthesis in sitosterolemia. (7852865)
1994
33
Sitosterolemia. (1431587)
1992
34
Increased sitosterol absorption is offset by rapid elimination to prevent accumulation in heterozygotes with sitosterolemia. (1576118)
1992
35
Regulation of cholesterol biosynthesis in sitosterolemia: effects of lovastatin, cholestyramine, and dietary sterol restriction. (1816322)
1991
36
Decreased cholesterol biosynthesis in sitosterolemia with xanthomatosis: diminished mononuclear leukocyte 3-hydroxy-3-methylglutaryl coenzyme A reductase activity and enzyme protein associated with increased low-density lipoprotein receptor function. (2325562)
1990
37
A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis. (2394840)
1990
38
Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis. (2380636)
1990
39
Increased sitosterol absorption, decreased removal, and expanded body pools compensate for reduced cholesterol synthesis in sitosterolemia with xanthomatosis. (2600539)
1989
40
The effect of abnormal plasma and cellular sterol content and composition on low density lipoprotein uptake and degradation by monocytes and lymphocytes in sitosterolemia with xanthomatosis. (3357417)
1988
41
Competitive inhibition of bile acid synthesis by endogenous cholestanol and sitosterol in sitosterolemia with xanthomatosis. Effect on cholesterol 7 alpha-hydroxylase. (3143743)
1988
42
Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis. (3711338)
1986
43
Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis. (4067433)
1985
44
Synthesis and structure of 26 (or 27)-nor-5 beta-cholestane-3 alpha,7 alpha,12 alpha,24S,25 xi-pentol isolated from the urine and feces of a patient with sitosterolemia and xanthomatosis. (2985722)
1985
45
Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis. (3989379)
1985
46
Identification of 5 alpha-stanols in patients with sitosterolemia and xanthomatosis: stereochemistry of the protonolysis of steroidal organoboranes. (6297129)
1982
47
A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia. (7258222)
1981
48
Beta-sitosterolemia and xanthomatosis. (1246333)
1976
49
Beta-Sitosterolemia and xanthomatosis. (781555)
1976
50
Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. (4360855)
1974

Variations for Sitosterolemia

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Sitosterolemia:

65 (show all 16)
id Symbol AA change Variation ID SNP ID
1ABCG5p.Glu146GlnVAR_012244
2ABCG5p.Arg389HisVAR_012245
3ABCG5p.Arg419HisVAR_012246
4ABCG5p.Arg419ProVAR_012247
5ABCG5p.Arg550SerVAR_012248
6ABCG5p.Asn437LysVAR_020781
7ABCG8p.Arg184HisVAR_012252
8ABCG8p.Pro231ThrVAR_012253
9ABCG8p.Arg263GlnVAR_012256rs137852990
10ABCG8p.Arg405HisVAR_012258
11ABCG8p.Leu501ProVAR_012259
12ABCG8p.Arg543SerVAR_012260rs201690654
13ABCG8p.Leu572ProVAR_012262
14ABCG8p.Gly574GluVAR_012263
15ABCG8p.Gly574ArgVAR_012264
16ABCG8p.Leu596ArgVAR_012266

Clinvar genetic disease variations for Sitosterolemia:

1 (show all 17)
id Gene Name Type Significance SNP ID Assembly Location
1ABCG5NM_022436.2(ABCG5): c.46C> T (p.Gln16Ter)single nucleotide variantPathogenicrs387906912GRCh37Chr 2, 44065773: 44065773
2NM_022436.2(ABCG5): c.1336C> T (p.Arg446Ter)single nucleotide variantPathogenicrs199689137GRCh37Chr 2, 44050063: 44050063
3ABCG8NM_022437.2(ABCG8): c.320C> G (p.Ser107Ter)single nucleotide variantPathogenicrs137854891GRCh37Chr 2, 44073448: 44073448
4ABCG8NM_022437.2(ABCG8): c.1083G> A (p.Trp361Ter)single nucleotide variantPathogenicrs137852987GRCh37Chr 2, 44099233: 44099233
5ABCG8NM_022437.2(ABCG8): c.1720G> A (p.Gly574Arg)single nucleotide variantPathogenicrs137852988GRCh37Chr 2, 44102516: 44102516
6ABCG8NM_022437.2(ABCG8): c.1974C> G (p.Tyr658Ter)single nucleotide variantPathogenicrs137852989GRCh37Chr 2, 44105004: 44105004
7ABCG8NM_022437.2(ABCG8): c.788G> A (p.Arg263Gln)single nucleotide variantPathogenicrs137852990GRCh37Chr 2, 44079831: 44079831
8ABCG8NM_022437.2(ABCG8): c.547delC (p.Gln183Serfs)deletionPathogenicrs387906323GRCh37Chr 2, 44078947: 44078947
9ABCG8NM_022437.2(ABCG8): c.1234C> T (p.Arg412Ter)single nucleotide variantPathogenicrs137852991GRCh37Chr 2, 44100948: 44100948
10ABCG8NM_022437.2(ABCG8): c.1787T> G (p.Leu596Arg)single nucleotide variantPathogenicrs137852992GRCh37Chr 2, 44104730: 44104730
11ABCG8NM_022437.2(ABCG8): c.691C> A (p.Pro231Thr)single nucleotide variantPathogenicrs137852993GRCh37Chr 2, 44079622: 44079622
12NM_022436.2(ABCG5): c.1222C> T (p.Arg408Ter)single nucleotide variantPathogenicrs119479065GRCh37Chr 2, 44051154: 44051154
13NM_022436.2(ABCG5): c.727C> T (p.Arg243Ter)single nucleotide variantPathogenicrs119479066GRCh37Chr 2, 44053568: 44053568
14NM_022436.2(ABCG5): c.1256G> A (p.Arg419His)single nucleotide variantPathogenicrs119479067GRCh37Chr 2, 44051120: 44051120
15NM_022436.2(ABCG5): c.1256G> C (p.Arg419Pro)single nucleotide variantPathogenicrs119479067GRCh37Chr 2, 44051120: 44051120
16NM_022436.2(ABCG5): c.1166G> A (p.Arg389His)single nucleotide variantPathogenicrs119480069GRCh37Chr 2, 44051210: 44051210
17ABCG5NM_022436.2(ABCG5): c.229G> T (p.Glu77Ter)single nucleotide variantPathogenicrs119480070GRCh37Chr 2, 44065009: 44065009

Expression for genes affiliated with Sitosterolemia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Sitosterolemia

Search GEO for disease gene expression data for Sitosterolemia.

Pathways for genes affiliated with Sitosterolemia

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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 52PharmGKB
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Pathways related to Sitosterolemia according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9ABCG5, ABCG8
2
Show member pathways
fatty acid beta-oxidation VI (peroxisome)39
9.7CYP7A1, CYP27A1
3
Show member pathways
9.7CYP27A1, CYP7A1
49.5HMGCR, FDFT1
5
Show member pathways
9.3ABCG1, ABCG5, ABCG8
69.3ABCG5, ABCG1, CYP7A1
79.1HMGCR, CYP7A1, ABCG5, ABCG8
8
Show member pathways
Cholesterol biosynthesis39
lanosterol biosynthesis39
zymosterol biosynthesis39
mevalonate pathway I39
epoxysqualene biosynthesis39
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)39
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)39
trans, trans-farnesyl diphosphate biosynthesis39
cholesterol biosynthesis I39
cholesterol biosynthesis III (via desmosterol)39
geranylgeranyldiphosphate biosynthesis39
9.1FDFT1, ACAT1, HMGCR
9
Show member pathways
8.7HMGCR, ACAT1, FDFT1, CYP7A1
10
Show member pathways
8.5ABCG8, ABCG5, APOB, MTTP
11
Show member pathways
8.0ABCG8, ABCG5, ABCG1, APOB, MTTP
12
Show member pathways
7.2HMGCR, ABCG8, ABCG5, CYP7A1, APOB, FDFT1
13
Show member pathways
5.8ABCG8, ABCG5, ABCG1, CYP27A1, CYP7A1, APOB

Compounds for genes affiliated with Sitosterolemia

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Sources:
46Novoseek, 30IUPHAR, 12DrugBank, 25HMDB, 52PharmGKB, 62Tocris Bioscience
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Compounds related to Sitosterolemia according to GeneCards/GeneDecks:

(show top 50)    (show all 73)
idCompoundScoreTop Affiliating Genes
1colesevelam469.9APOB, HMGCR
2niceritrol469.9HMGCR, APOB
3colestipol469.8HMGCR, APOB
4psyllium469.8HMGCR, APOB
5zaragozic acid a46 3010.8FDFT1, HMGCR
6cholestanol469.8ABCG8, CYP27A1, CYP7A1
7bile acid469.8CYP7A1, HMGCR
87alpha-hydroxy-4-cholesten-3-one469.7CYP7A1, HMGCR, CYP27A1
924s-hydroxy-cholesterol469.7CYP7A1, CYP27A1, HMGCR
10cholestyramine469.6CYP7A1, APOB, HMGCR
11taurocholate469.6APOB, HMGCR, CYP7A1
12bezafibrate46 30 1211.5APOB, CYP7A1, HMGCR
137-ketocholesterol46 2510.5CYP27A1, APOB, HMGCR
14farnesyl diphosphate46 30 1211.5HMGCR, CYP7A1, FDFT1
15mttp469.5MTTP, APOB
167-dehydrocholesterol46 2510.4CYP27A1, FDFT1, HMGCR
17lipovitellin469.4MTTP, APOB
18mevalonate469.4CYP7A1, FDFT1, HMGCR
19farnesol46 30 25 1212.4HMGCR, FDFT1
20pluronic f127469.3MTTP, APOB
21campesterol46 2510.3APOB, HMGCR
2227-hydroxycholesterol46 3010.2HMGCR, ABCG1, CYP27A1, CYP7A1
23chenodeoxycholic acid46 30 25 1212.2CYP7A1, CYP27A1, HMGCR, APOB
24n-acetylleucylleucylnorleucinal469.2APOB, MTTP, HMGCR
25naringenin46 1210.1HMGCR, APOB, MTTP
26lomitapide52 1210.1APOB, MTTP
27lovastatin46 52 62 30 1213.1APOB, FDFT1, HMGCR
28niacin46 1210.1APOB, HMGCR, MTTP
29sitosterol469.1HMGCR, APOB, CYP7A1, ABCG5, ABCG8
30NADP259.0CYP27A1, HMGCR, FDFT1, CYP7A1
31squalene46 2510.0HMGCR, MTTP, FDFT1
32oleic acid46 30 25 1212.0CYP7A1, APOB, MTTP
33lactacystin468.9HMGCR, MTTP, APOB
34nadph46 259.9CYP27A1, CYP7A1, FDFT1, HMGCR
35phosphatidylcholine468.6MTTP, CYP7A1, APOB, ABCG1
36ezetimibe46 129.6ABCG5, MTTP, HMGCR, APOB, ABCG8
37dexamethasone46 52 30 1211.5ABCG1, HMGCR, APOB, CYP7A1, CYP27A1
38lathosterol46 259.5CYP7A1, HMGCR, ABCG8, APOB, MTTP
39phospholipid468.4ABCG1, ABCG8, MTTP, APOB, ABCG5
40atp46 309.3ABCG8, ABCG1, CYP27A1, CYP7A1, FDFT1, ABCG5
413-hydroxy-3-methylglutaryl-coa46 259.2ABCG1, CYP7A1, FDFT1, MTTP, HMGCR
42cholesterol ester468.2MTTP, FDFT1, APOB, HMGCR, CYP7A1
43pravastatin46 52 30 25 1212.2CYP7A1, APOB, HMGCR, MTTP, FDFT1
44simvastatin46 52 62 30 25 1213.1CYP27A1, HMGCR, FDFT1, APOB, MTTP
45fatty acid468.1FDFT1, ABCG1, APOB, MTTP
46glucose468.0ABCG8, ABCG5, ABCG1, MTTP, APOB, CYP7A1
47atorvastatin46 52 30 25 1211.9CYP7A1, MTTP, HMGCR, APOB, ABCG8, FDFT1
48sterol466.6HMGCR, ABCG8, ABCG5, ABCG1, CYP27A1, APOB
49lipid466.6CYP27A1, ABCG1, ABCG5, HMGCR, CYP7A1, APOB
50cholesterol46 30 25 129.2HMGCR, ACAT1, MTTP, FDFT1, APOB, CYP7A1

GO Terms for genes affiliated with Sitosterolemia

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Sources:
17Gene Ontology
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Cellular components related to Sitosterolemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057898.1HMGCR, FDFT1, APOB, CYP7A1, ABCG1

Biological processes related to Sitosterolemia according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of intestinal cholesterol absorptionGO:04579610.1ABCG8, ABCG5
2negative regulation of intestinal phytosterol absorptionGO:01094910.1ABCG8, ABCG5
3sterol transportGO:01591810.1ABCG5, ABCG8
4intestinal cholesterol absorptionGO:03029910.1ABCG5, ABCG8
5excretionGO:0075889.9ABCG5, ABCG8
6sterol metabolic processGO:0161259.7CYP7A1, CYP27A1
7response to nutrientGO:0075849.7ABCG8, ABCG5, HMGCR
8bile acid biosynthetic processGO:0066999.7CYP27A1, CYP7A1
9isoprenoid biosynthetic processGO:0082999.6FDFT1, HMGCR
10low-density lipoprotein particle remodelingGO:0343749.6APOB, ABCG1
11cholesterol biosynthetic processGO:0066959.4HMGCR, FDFT1
12bile acid metabolic processGO:0082069.4CYP7A1, CYP27A1
13lipoprotein transportGO:0429539.2MTTP, APOB
14cholesterol metabolic processGO:0082039.2APOB, CYP27A1, ABCG1
15cholesterol effluxGO:0333449.1ABCG8, ABCG5, ABCG1, APOB
16cellular lipid metabolic processGO:0442559.0CYP7A1, FDFT1, ACAT1, HMGCR
17lipoprotein metabolic processGO:0421578.9MTTP, APOB, ABCG1
18cholesterol homeostasisGO:0426328.0MTTP, ABCG8, ABCG5, ABCG1, CYP7A1, APOB
19small molecule metabolic processGO:0442816.1ABCG8, ABCG5, ABCG1, CYP27A1, CYP7A1, APOB

Molecular functions related to Sitosterolemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phospholipid bindingGO:0055439.4APOB, ABCG1
2coenzyme bindingGO:0506629.4HMGCR, ACAT1
3cholesterol transporter activityGO:0171278.8APOB, ABCG1, ABCG5, ABCG8
4protein heterodimerization activityGO:0469828.4ABCG8, ABCG5, ABCG1, MTTP

Products for genes affiliated with Sitosterolemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sitosterolemia

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet