MCID: STS003
MIFTS: 65

Sitosterolemia malady

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

Summaries for Sitosterolemia

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Genetics Home Reference:23 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 based summary: Sitosterolemia, also known as phytosterolemia, is related to xanthomatosis and cerebrotendinous xanthomatosis, and has symptoms including autosomal recessive inheritance, arthritis and abnormality of the liver. 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 Synthesis of bile acids and bile salts. The compounds niceritrol and colesevelam 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.

OMIM:47 Sitosterolemia, also known as phytosterolemia, is an autosomal recessive metabolic condition characterized by... (210250) more...

Wikipedia:65 Sitosterolemia (also known as \"Phytosterolemia\") is a rare autosomal recessively inherited lipid... more...

GeneReviews summary for stsl

Aliases & Classifications for Sitosterolemia

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Sources:
47OMIM, 11diseasecard, 21GeneReviews, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Sitosterolemia, Aliases & Descriptions:

Name: Sitosterolemia 47 11 21 43 22 23 45 49 24 62
Phytosterolemia 21 43 23 49 62
Plant Sterol Storage Disease 43 23 62
Xanthomatosis with Sisterolemia 43 49
Beta-Sitosterolemia 21 23
Sitosterolaemia 23 62
 
Retention of Dietary Cholesterol and Abnormal Retention of Non-Cholesterol Sterols in the Body 43
Mediterranean Macrothrombocytopenia 62
Sitosterolemia with Xanthomatosis 62
Phytosterolaemia 23
Phytosterolæmia 21
Sitosterolæmia 21


Classifications:



Characteristics (Orphanet epidemiological data):

49
sitosterolemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages


External Ids:

OMIM47 210250
Orphanet49 2882
MESH via Orphanet36 C537345
ICD10 via Orphanet28 E78.0
UMLS via Orphanet63 C0342907

Related Diseases for Sitosterolemia

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1xanthomatosis31.1APOB, CYP7A1
2cerebrotendinous xanthomatosis30.3CYP27A1, HMGCR
3smith-lemli-opitz syndrome30.1HMGCR, FDFT1
4atherosclerosis29.8ABCG8, ABCG5, ABCG1, CYP27A1, CYP7A1, APOB
5hepatitis10.4
6primary biliary cirrhosis10.1
7artery disease10.1
8mediterranean macrothrombocytopenia10.1
9chylomicron retention disease10.0APOB
10anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.0CYP27A1, ABCG5
11myocardial infarction10.0
12hemolytic anemia10.0
13thrombocytopenia10.0
14lipid storage disease10.0
15paraplegia10.0
16turner syndrome10.0
17hypercholesterolemia, familial10.0HMGCR, APOB
18hyperlipidemia type 310.0HMGCR, APOB
19cholelithiasis10.0CYP7A1, ABCG5, ABCG8
20peripheral vascular disease10.0APOB, HMGCR
21familial hyperlipidemia10.0HMGCR, APOB
22hyperlipidemia, familial combined10.0HMGCR, APOB
23cerebrovascular disease10.0HMGCR, APOB
24arteriosclerosis10.0APOB, HMGCR
25tangier disease10.0APOB, ABCG1
26lipodystrophy10.0HMGCR, APOB
27thrombophilia due to thrombin defect10.0HMGCR, APOB
28stroke, ischemic10.0HMGCR, APOB
29cholestasis10.0CYP7A1, CYP27A1
30metabolic syndrome x10.0CYP7A1, APOB, ACAT1
31hypobetalipoproteinemia10.0MTTP, APOB
32abetalipoproteinemia10.0MTTP, APOB
33hepatoblastoma10.0HMGCR, APOB, CYP7A1, CYP27A1
34glucose intolerance10.0MTTP, APOB, CYP7A1
35fatty liver disease10.0HMGCR, MTTP, APOB
36coronary artery disease10.0HMGCR, MTTP, APOB
37diabetes mellitus, noninsulin-dependent10.0HMGCR, MTTP, APOB
38hypertriglyceridemia10.0HMGCR, MTTP, APOB, CYP7A1
39lipid metabolism disorder10.0CYP7A1, APOB, MTTP, HMGCR
40obesity9.9MTTP, FDFT1, APOB

Graphical network of the top 20 diseases related to Sitosterolemia:



Diseases related to sitosterolemia

Symptoms for Sitosterolemia

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Symptoms by clinical synopsis from OMIM:

210250

Clinical features from OMIM:

210250

HPO human phenotypes related to Sitosterolemia:

(show all 17)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 arthritis HP:0001369
3 abnormality of the liver HP:0001392
4 abnormality of the integument HP:0001574
5 splenomegaly HP:0001744
6 abnormal bleeding HP:0001892
7 giant platelets HP:0001902
8 reticulocytosis HP:0001923
9 abdominal pain HP:0002027
10 arthralgia HP:0002829
11 hypercholesterolemia HP:0003124
12 impaired platelet aggregation HP:0003540
13 stomatocytosis HP:0004446
14 episodic hemolytic anemia HP:0004802
15 chronic hemolytic anemia HP:0004870
16 coronary atherosclerosis HP:0004929
17 hyperapobetalipoproteinemia HP:0008158

Drugs & Therapeutics for Sitosterolemia

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Drug clinical trials:

Search ClinicalTrials for Sitosterolemia

Search NIH Clinical Center for Sitosterolemia

Genetic Tests for Sitosterolemia

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Genetic tests related to Sitosterolemia:

id Genetic test Affiliating Genes
1 Sitosterolemia22 24 ABCG8

Anatomical Context for Sitosterolemia

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MalaCards organs/tissues related to Sitosterolemia:

33
Liver, Testes, Spinal cord, Monocytes

Animal Models for Sitosterolemia or affiliated genes

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MGI Mouse Phenotypes related to Sitosterolemia:

37
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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Articles related to Sitosterolemia:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Hepatic or intestinal ABCG5 and ABCG8 are sufficient to block the development of sitosterolemia. (25527605)
2015
2
Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia. (25444527)
2015
3
Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. (24423340)
2014
4
Ezetimibe treatment should be considered for patients with sitosterolemia. (24839218)
2014
5
Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia. (23926302)
2013
6
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. (24166850)
2013
7
Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism. (20543520)
2010
8
Genetic inactivation of NPC1L1 protects against sitosterolemia in mice lacking ABCG5/ABCG8. (18796403)
2009
9
Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia. (18156627)
2008
10
Long-term efficacy and safety of ezetimibe 10 mg in patients with homozygous sitosterolemia: a 2-year, open-label extension study. (18822021)
2008
11
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
12
Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis. (16697747)
2006
13
Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities. (17018391)
2006
14
A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans. (16507104)
2006
15
Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues. (16331855)
2005
16
A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol. (15040800)
2004
17
Sitosterolemia in ABC-transporter G5-deficient mice is aggravated on activation of the liver-X receptor. (14699507)
2004
18
Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia. (14769702)
2004
19
Phenotypic heterogeneity of sitosterolemia. (15375183)
2004
20
Sitosterolemia--a rare disease. Are elevated plant sterols an additional risk factor? (15599566)
2004
21
A 19-year-old man with myocardial infarction and sitosterolemia. (12879952)
2003
22
Novel donor splice site mutation of ABCG5 gene in sitosterolemia. (11855938)
2002
23
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. (11668628)
2001
24
Japanese sisters associated with pseudohomozygous familial hypercholesterolemia and sitosterolemia. (11425042)
2000
25
Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis. (9610773)
1998
26
Competitive inhibition of hepatic sterol 27-hydroxylase by sitosterol: decreased activity in sitosterolemia. (9460081)
1998
27
Down-regulation of cholesterol biosynthesis in sitosterolemia: diminished activities of acetoacetyl-CoA thiolase, 3-hydroxy-3-methylglutaryl-CoA synthase, reductase, squalene synthase, and 7-dehydrocholesterol delta7-reductase in liver and mononuclear leukocytes. (9469584)
1998
28
Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. (9727073)
1998
29
beta-Sitosterolemia with generalized eruptive xanthomatosis. (9152615)
1997
30
Coronary bypass grafts in a young girl with sitosterolemia. (8781841)
1996
31
A marked and sustained reduction in LDL sterols by diet and cholestyramine in beta-sitosterolemia. (8529322)
1995
32
Deficient ileal 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in sitosterolemia: sitosterol is not a feedback inhibitor of intestinal cholesterol biosynthesis. (8028508)
1994
33
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
34
Inverse relationship between plasma cholestanol concentrations and bile acid synthesis in sitosterolemia. (7852865)
1994
35
Sitosterolemia. (1431587)
1992
36
Regulation of cholesterol biosynthesis in sitosterolemia: effects of lovastatin, cholestyramine, and dietary sterol restriction. (1816322)
1991
37
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
38
A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis. (2394840)
1990
39
Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis. (2380636)
1990
40
Increased sitosterol absorption, decreased removal, and expanded body pools compensate for reduced cholesterol synthesis in sitosterolemia with xanthomatosis. (2600539)
1989
41
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
42
Competitive inhibition of bile acid synthesis by endogenous cholestanol and sitosterol in sitosterolemia with xanthomatosis. Effect on cholesterol 7 alpha-hydroxylase. (3143743)
1988
43
Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis. (3711338)
1986
44
Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis. (4067433)
1985
45
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
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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UniProtKB/Swiss-Prot genetic disease variations for Sitosterolemia:

64 (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:

7 (show all 17)
id Gene Variation 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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Search GEO for disease gene expression data for Sitosterolemia.

Pathways for genes affiliated with Sitosterolemia

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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
9.7CYP7A1, CYP27A1
3
Show member pathways
fatty acid beta-oxidation VI (peroxisome)38
9.7CYP7A1, CYP27A1
49.5HMGCR, FDFT1
5
Show member pathways
9.3ABCG5, ABCG8, ABCG1
69.3ABCG5, ABCG1, CYP7A1
79.1CYP7A1, ABCG8, ABCG5, HMGCR
8
Show member pathways
Cholesterol biosynthesis38
lanosterol biosynthesis38
zymosterol biosynthesis38
mevalonate pathway I38
epoxysqualene biosynthesis38
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)38
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)38
trans, trans-farnesyl diphosphate biosynthesis38
cholesterol biosynthesis I38
cholesterol biosynthesis III (via desmosterol)38
geranylgeranyldiphosphate biosynthesis38
9.1HMGCR, FDFT1, ACAT1
9
Show member pathways
8.7CYP7A1, HMGCR, ACAT1, FDFT1
10
Show member pathways
8.5MTTP, ABCG5, ABCG8, APOB
11
Show member pathways
8.0MTTP, APOB, ABCG1, ABCG8, ABCG5
12
Show member pathways
7.2HMGCR, ABCG8, CYP7A1, ABCG5, APOB, FDFT1
13
Show member pathways
5.8CYP7A1, HMGCR, ACAT1, MTTP, FDFT1, APOB

Compounds for genes affiliated with Sitosterolemia

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Compounds related to Sitosterolemia according to GeneCards/GeneDecks:

(show top 50)    (show all 73)
idCompoundScoreTop Affiliating Genes
1niceritrol459.9APOB, HMGCR
2colesevelam459.9APOB, HMGCR
3colestipol459.8HMGCR, APOB
4zaragozic acid a45 3010.8FDFT1, HMGCR
5psyllium459.8HMGCR, APOB
6cholestanol459.8CYP7A1, CYP27A1, ABCG8
77alpha-hydroxy-4-cholesten-3-one459.7HMGCR, CYP7A1, CYP27A1
824s-hydroxy-cholesterol459.7CYP27A1, CYP7A1, HMGCR
9bile acid459.7CYP7A1, HMGCR
10cholestyramine459.6HMGCR, APOB, CYP7A1
11campesterol45 2610.6APOB, HMGCR
12taurocholate459.6HMGCR, APOB, CYP7A1
13bezafibrate45 30 1311.5HMGCR, APOB, CYP7A1
147-ketocholesterol45 2610.5HMGCR, APOB, CYP27A1
15farnesyl diphosphate45 30 1311.5HMGCR, FDFT1, CYP7A1
16mttp459.5APOB, MTTP
177-dehydrocholesterol45 2610.4CYP27A1, FDFT1, HMGCR
18lipovitellin459.4MTTP, APOB
19mevalonate459.4CYP7A1, FDFT1, HMGCR
20pluronic f127459.3MTTP, APOB
2127-hydroxycholesterol45 3010.2ABCG1, CYP27A1, CYP7A1, HMGCR
22chenodeoxycholic acid45 30 26 1312.2CYP27A1, CYP7A1, APOB, HMGCR
23farnesol45 30 26 1312.2FDFT1, HMGCR
24n-acetylleucylleucylnorleucinal459.2HMGCR, MTTP, APOB
25naringenin45 1310.1APOB, MTTP, HMGCR
26lomitapide51 1310.1MTTP, APOB
27lovastatin45 51 61 30 1313.1HMGCR, FDFT1, APOB
28niacin45 1310.1APOB, MTTP, HMGCR
29sitosterol459.1ABCG8, HMGCR, APOB, CYP7A1, ABCG5
30NADP269.0CYP27A1, CYP7A1, FDFT1, HMGCR
31squalene45 2610.0HMGCR, MTTP, FDFT1
32oleic acid45 30 26 1312.0CYP7A1, APOB, MTTP
33lactacystin458.9APOB, MTTP, HMGCR
34nadph45 269.9CYP27A1, CYP7A1, FDFT1, HMGCR
35phosphatidylcholine458.6ABCG1, CYP7A1, APOB, MTTP
36ezetimibe45 139.6ABCG8, ABCG5, APOB, MTTP, HMGCR
37dexamethasone45 51 30 1311.5ABCG1, CYP27A1, CYP7A1, APOB, HMGCR
38lathosterol45 269.5ABCG8, CYP7A1, APOB, MTTP, HMGCR
39phospholipid458.4ABCG8, ABCG5, ABCG1, APOB, MTTP
40atp45 309.3ABCG8, ABCG5, ABCG1, CYP27A1, CYP7A1, FDFT1
413-hydroxy-3-methylglutaryl-coa45 269.2ABCG1, CYP7A1, FDFT1, MTTP, HMGCR
42cholesterol ester458.2CYP7A1, APOB, FDFT1, MTTP, HMGCR
43pravastatin45 51 30 26 1312.2CYP7A1, APOB, FDFT1, MTTP, HMGCR
44simvastatin45 51 61 30 26 1313.1CYP27A1, APOB, FDFT1, MTTP, HMGCR
45fatty acid458.1ABCG1, APOB, FDFT1, MTTP
46glucose458.0ABCG8, ABCG5, ABCG1, CYP7A1, APOB, MTTP
47atorvastatin45 51 30 26 1311.9ABCG8, CYP7A1, APOB, FDFT1, MTTP, HMGCR
48sterol456.6APOB, CYP7A1, CYP27A1, ABCG1, ABCG5, ABCG8
49lipid456.6ABCG8, ABCG5, ABCG1, CYP27A1, CYP7A1, APOB
50cholesterol45 30 26 139.2HMGCR, ACAT1, MTTP, FDFT1, APOB, CYP7A1

GO Terms for genes affiliated with Sitosterolemia

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Cellular components related to Sitosterolemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:00057898.1HMGCR, 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:004579610.1ABCG8, ABCG5
2negative regulation of intestinal phytosterol absorptionGO:001094910.1ABCG8, ABCG5
3sterol transportGO:001591810.1ABCG5, ABCG8
4intestinal cholesterol absorptionGO:003029910.1ABCG5, ABCG8
5excretionGO:00075889.9ABCG5, ABCG8
6sterol metabolic processGO:00161259.7CYP7A1, CYP27A1
7response to nutrientGO:00075849.7ABCG8, ABCG5, HMGCR
8bile acid biosynthetic processGO:00066999.7CYP27A1, CYP7A1
9isoprenoid biosynthetic processGO:00082999.6FDFT1, HMGCR
10low-density lipoprotein particle remodelingGO:00343749.6APOB, ABCG1
11cholesterol biosynthetic processGO:00066959.4HMGCR, FDFT1
12bile acid metabolic processGO:00082069.4CYP7A1, CYP27A1
13lipoprotein transportGO:00429539.2MTTP, APOB
14cholesterol metabolic processGO:00082039.2APOB, CYP27A1, ABCG1
15cholesterol effluxGO:00333449.1ABCG8, ABCG5, ABCG1, APOB
16cellular lipid metabolic processGO:00442559.0CYP7A1, FDFT1, ACAT1, HMGCR
17lipoprotein metabolic processGO:00421578.9MTTP, APOB, ABCG1
18cholesterol homeostasisGO:00426328.0MTTP, ABCG8, ABCG5, ABCG1, CYP7A1, APOB
19small molecule metabolic processGO:00442816.1ABCG8, ABCG5, ABCG1, CYP27A1, CYP7A1, APOB

Molecular functions related to Sitosterolemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phospholipid bindingGO:00055439.4APOB, ABCG1
2coenzyme bindingGO:00506629.4HMGCR, ACAT1
3cholesterol transporter activityGO:00171278.8APOB, ABCG1, ABCG5, ABCG8
4protein heterodimerization activityGO:00469828.4ABCG8, ABCG5, ABCG1, MTTP

Products for genes affiliated with Sitosterolemia

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Sources for Sitosterolemia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet