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: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 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 PPAR signaling pathway. 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:46 Sitosterolemia, also known as phytosterolemia, is an autosomal recessive metabolic condition characterized by... (210250) more...

Wikipedia:64 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:
20GeneReviews, 42NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 61UMLS, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Sitosterolemia, Aliases & Descriptions:

Name: Sitosterolemia 20 42 21 23 22 46 44 48 61
Phytosterolemia 20 42 22 48 61
Plant Sterol Storage Disease 42 22 61
Mediterranean Macrothrombocytopenia 48 61
Beta-Sitosterolemia 20 22
Sitosterolaemia 22 61
 
Retention of Dietary Cholesterol and Abnormal Retention of Non-Cholesterol Sterols in the Body 42
Sitosterolemia with Xanthomatosis 61
Xanthomatosis with Sisterolemia 48
Phytosterolæmia 20
Phytosterolaemia 22
Sitosterolæmia 20


Classifications:



Characteristics (Orphanet epidemiological data):

48
sitosterolemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


External Ids:

OMIM46 210250
MESH via Orphanet35 C537345
ICD10 via Orphanet27 E78.0, D69.1
UMLS via Orphanet62 C0342907, C0272281

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
1xanthomatosis31.4APOB, CYP7A1
2cerebrotendinous xanthomatosis30.6CYP27A1, HMGCR
3smith-lemli-opitz syndrome30.4HMGCR, FDFT1
4familial hypercholesterolemia30.4HMGCR, APOB
5hypercholesterolemia28.8ABCG8, ABCG5, CYP27A1, CYP7A1, APOB, FDFT1
6atherosclerosis28.6ABCG8, ABCG5, ABCG1, CYP27A1, CYP7A1, APOB
7chylomicron retention disease10.4APOB
8hepatitis10.3
9pyridoxine-refractory autosomal recessive sideroblastic anemia10.2CYP27A1, ABCG5
10hyperlipidemia type 310.2HMGCR, APOB
11cholelithiasis10.2CYP7A1, ABCG5, ABCG8
12peripheral vascular disease10.2APOB, HMGCR
13splenomegaly10.2
14familial hyperlipidemia10.2HMGCR, APOB
15familial combined hyperlipidemia10.2HMGCR, APOB
16cerebrovascular disease10.2HMGCR, APOB
17arteriosclerosis10.1APOB, HMGCR
18tangier disease10.1APOB, ABCG1
19lipodystrophy10.1HMGCR, APOB
20venous thrombosis10.1HMGCR, APOB
21stroke, ischemic10.1HMGCR, APOB
22artery disease10.1
23cholestasis10.1CYP7A1, CYP27A1
24primary biliary cirrhosis10.1
25metabolic syndrome x10.0CYP7A1, APOB, ACAT1
26hypobetalipoproteinemia10.0MTTP, APOB
27hemolytic anemia10.0
28myocardial infarction10.0
29thrombocytopenia10.0
30lipid storage disease10.0
31paraplegia10.0
32abetalipoproteinemia10.0MTTP, APOB
33hepatoblastoma9.9HMGCR, APOB, CYP7A1, CYP27A1
34glucose intolerance9.9MTTP, APOB, CYP7A1
35fatty liver disease9.9HMGCR, MTTP, APOB
36coronary artery anomaly9.9HMGCR, MTTP, APOB
37type 2 diabetes mellitus9.8APOB, MTTP, HMGCR
38insulin resistance9.8HMGCR, MTTP, APOB
39hypertriglyceridemia9.7HMGCR, MTTP, APOB, CYP7A1
40obesity9.5MTTP, 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:

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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 Sitosterolemia21 23 ABCG8

Anatomical Context for Sitosterolemia

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MalaCards organs/tissues related to Sitosterolemia:

32
Liver, Testes, Spinal cord, Monocytes

Animal Models for Sitosterolemia or affiliated genes

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MGI Mouse Phenotypes related to Sitosterolemia:

36
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 73)
idTitleAuthorsYear
1
Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. (24423340)
2014
2
Ezetimibe treatment should be considered for patients with sitosterolemia. (24839218)
2014
3
Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia. (23926302)
2013
4
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. (24166850)
2013
5
Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism. (20543520)
2010
6
Genetic inactivation of NPC1L1 protects against sitosterolemia in mice lacking ABCG5/ABCG8. (18796403)
2009
7
Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia. (18156627)
2008
8
Long-term efficacy and safety of ezetimibe 10 mg in patients with homozygous sitosterolemia: a 2-year, open-label extension study. (18822021)
2008
9
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
10
Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis. (16697747)
2006
11
Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities. (17018391)
2006
12
A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans. (16507104)
2006
13
Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues. (16331855)
2005
14
A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol. (15040800)
2004
15
Sitosterolemia in ABC-transporter G5-deficient mice is aggravated on activation of the liver-X receptor. (14699507)
2004
16
Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia. (14769702)
2004
17
Phenotypic heterogeneity of sitosterolemia. (15375183)
2004
18
Sitosterolemia--a rare disease. Are elevated plant sterols an additional risk factor? (15599566)
2004
19
A 19-year-old man with myocardial infarction and sitosterolemia. (12879952)
2003
20
Novel donor splice site mutation of ABCG5 gene in sitosterolemia. (11855938)
2002
21
Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia. (12124998)
2002
22
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. (11668628)
2001
23
Japanese sisters associated with pseudohomozygous familial hypercholesterolemia and sitosterolemia. (11425042)
2000
24
Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis. (9610773)
1998
25
Competitive inhibition of hepatic sterol 27-hydroxylase by sitosterol: decreased activity in sitosterolemia. (9460081)
1998
26
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
27
Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. (9727073)
1998
28
Sitosterolemia. (9090303)
1997
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
Inverse relationship between plasma cholestanol concentrations and bile acid synthesis in sitosterolemia. (7852865)
1994
34
Sitosterolemia. (1431587)
1992
35
Increased sitosterol absorption is offset by rapid elimination to prevent accumulation in heterozygotes with sitosterolemia. (1576118)
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:

63 (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 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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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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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)37
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 biosynthesis37
lanosterol biosynthesis37
zymosterol biosynthesis37
mevalonate pathway I37
epoxysqualene biosynthesis37
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)37
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)37
trans, trans-farnesyl diphosphate biosynthesis37
cholesterol biosynthesis I37
cholesterol biosynthesis III (via desmosterol)37
geranylgeranyldiphosphate biosynthesis37
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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Compounds related to Sitosterolemia according to GeneCards/GeneDecks:

(show top 50)    (show all 73)
idCompoundScoreTop Affiliating Genes
1niceritrol449.9APOB, HMGCR
2colesevelam449.9APOB, HMGCR
3colestipol449.8HMGCR, APOB
4zaragozic acid a44 2910.8FDFT1, HMGCR
5psyllium449.8HMGCR, APOB
6cholestanol449.8CYP7A1, CYP27A1, ABCG8
77alpha-hydroxy-4-cholesten-3-one449.7HMGCR, CYP7A1, CYP27A1
824s-hydroxy-cholesterol449.7CYP27A1, CYP7A1, HMGCR
9bile acid449.7CYP7A1, HMGCR
10cholestyramine449.6HMGCR, APOB, CYP7A1
11campesterol44 2510.6APOB, HMGCR
12taurocholate449.6HMGCR, APOB, CYP7A1
13bezafibrate44 29 1211.5HMGCR, APOB, CYP7A1
147-ketocholesterol44 2510.5HMGCR, APOB, CYP27A1
15farnesyl diphosphate44 29 1211.5HMGCR, FDFT1, CYP7A1
16mttp449.5APOB, MTTP
177-dehydrocholesterol44 2510.4CYP27A1, FDFT1, HMGCR
18lipovitellin449.4MTTP, APOB
19mevalonate449.4CYP7A1, FDFT1, HMGCR
20pluronic f127449.3MTTP, APOB
2127-hydroxycholesterol44 2910.2ABCG1, CYP27A1, CYP7A1, HMGCR
22chenodeoxycholic acid44 29 25 1212.2CYP27A1, CYP7A1, APOB, HMGCR
23farnesol44 29 25 1212.2FDFT1, HMGCR
24n-acetylleucylleucylnorleucinal449.2HMGCR, MTTP, APOB
25naringenin44 1210.1APOB, MTTP, HMGCR
26lomitapide50 1210.1MTTP, APOB
27lovastatin44 50 60 29 1213.1HMGCR, FDFT1, APOB
28niacin44 1210.1APOB, MTTP, HMGCR
29sitosterol449.1ABCG8, HMGCR, APOB, CYP7A1, ABCG5
30NADP259.0CYP27A1, CYP7A1, FDFT1, HMGCR
31squalene44 2510.0HMGCR, MTTP, FDFT1
32oleic acid44 29 25 1212.0CYP7A1, APOB, MTTP
33lactacystin448.9APOB, MTTP, HMGCR
34nadph44 259.9CYP27A1, CYP7A1, FDFT1, HMGCR
35phosphatidylcholine448.6ABCG1, CYP7A1, APOB, MTTP
36ezetimibe44 129.6ABCG8, ABCG5, APOB, MTTP, HMGCR
37dexamethasone44 50 29 1211.5ABCG1, CYP27A1, CYP7A1, APOB, HMGCR
38lathosterol44 259.5ABCG8, CYP7A1, APOB, MTTP, HMGCR
39phospholipid448.4ABCG8, ABCG5, ABCG1, APOB, MTTP
40atp44 299.3ABCG8, ABCG5, ABCG1, CYP27A1, CYP7A1, FDFT1
413-hydroxy-3-methylglutaryl-coa44 259.2ABCG1, CYP7A1, FDFT1, MTTP, HMGCR
42cholesterol ester448.2CYP7A1, APOB, FDFT1, MTTP, HMGCR
43pravastatin44 50 29 25 1212.2CYP7A1, APOB, FDFT1, MTTP, HMGCR
44simvastatin44 50 60 29 25 1213.1CYP27A1, APOB, FDFT1, MTTP, HMGCR
45fatty acid448.1ABCG1, APOB, FDFT1, MTTP
46glucose448.0ABCG8, ABCG5, ABCG1, CYP7A1, APOB, MTTP
47atorvastatin44 50 29 25 1211.9ABCG8, CYP7A1, APOB, FDFT1, MTTP, HMGCR
48sterol446.6APOB, CYP7A1, CYP27A1, ABCG1, ABCG5, ABCG8
49lipid446.6ABCG8, ABCG5, ABCG1, CYP27A1, CYP7A1, APOB
50cholesterol44 29 25 129.2HMGCR, 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: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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4CDC
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15FMA
23GTR
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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