MCID: STS003
MIFTS: 64

Sitosterolemia malady

Metabolic diseases, Endocrine diseases, Blood diseases categories

Summaries for Sitosterolemia

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 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 Trafficking of dietary sterols and Vitamin A and carotenoid metabolism. The compounds bile acid and niceritrol have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and spinal cord, and related mouse phenotypes are homeostasis/metabolism and liver/biliary system.

Wikipedia:63 Sitosterolemia (also known as \"Phytosterolemia\") is a rare autosomal recessively inherited lipid... more...

Description from OMIM:46 210250

GeneReviews summary for stsl

Aliases & Classifications for Sitosterolemia

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

sitosterolemia 19 42 20 22 21 46 44 48 60
phytosterolemia 19 42 21 48
mediterranean macrothrombocytopenia 48 60
plant sterol storage disease 42 21
beta-sitosterolemia 19 21
retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body 42
sitosterolemia with xanthomatosis 60
xanthomatosis with sisterolemia 48
phytosterolæmia 19
phytosterolaemia 21
sitosterolaemia 21
sitosterolæmia 19


External Ids:

OMIM46 210250
MESH via Orphanet35 C537345
ICD10 via Orphanet26 E78.0, D69.1
SNOMED-CT via Orphanet57 238104009, 60628003
UMLS via Orphanet61 C0342907, C0272281

Related Diseases for Sitosterolemia

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17GeneCards, 18GeneDecks
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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
1xanthomatosis30.9APOB, CYP7A1
2cerebrotendinous xanthomatosis30.1HMGCR, CYP27A1
3smith-lemli-opitz syndrome30.0FDFT1, HMGCR
4familial hypercholesterolemia29.9HMGCR, APOB
5atherosclerosis29.8APOB, MTTP, CYP27A1, CYP7A1, ABCG8, ABCG5
6hepatitis10.2
7colorectal cancer10.0CYP7A1
8hypertension10.0APOB
9chylomicron retention disease10.0APOB
10dementia10.0CYP27A1
11fatty liver disease10.0MTTP
12cholelithiasis10.0CYP7A1, ABCG8, ABCG5
13hyperlipidemia type 310.0HMGCR, APOB
14peripheral vascular disease10.0HMGCR, APOB
15alzheimer's disease10.0HMGCR, APOB
16familial hyperlipidemia10.0HMGCR, APOB
17familial combined hyperlipidemia10.0HMGCR, APOB
18hypobetalipoproteinemia10.0MTTP, APOB
19venous thrombosis10.0HMGCR, APOB
20abetalipoproteinemia10.0MTTP, APOB
21tangier disease10.0ABCG1, APOB
22coronary heart disease10.0APOB, MTTP, HMGCR
23metabolic syndrome x10.0APOB, CYP7A1, ACAT1
24glucose intolerance10.0CYP7A1, MTTP, APOB
25insulin resistance10.0HMGCR, MTTP, APOB
26hypothyroidism10.0CYP7A1, APOB
27obesity10.0FDFT1, MTTP, APOB
28hepatoblastoma10.0APOB, CYP27A1, CYP7A1, HMGCR
29hypertriglyceridemia10.0APOB, MTTP, CYP7A1, HMGCR
30type 2 diabetes mellitus10.0APOB, MTTP, HMGCR
31hepatitis a10.0
32hemolytic anemia10.0
33lipid storage disease10.0
34liver cirrhosis10.0
35myocardial infarction10.0
36paraplegia10.0
37thrombocytopenia10.0
38hypercholesterolemia9.9HMGCR, APOB, MTTP, FDFT1, CYP27A1, CYP7A1

Graphical network of the top 20 diseases related to Sitosterolemia:



Diseases related to sitosterolemia

Clinical Features for Sitosterolemia

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46OMIM
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Clinical features from OMIM:

210250

Clinical synopsis from OMIM:

210250

Drugs & Therapeutics for Sitosterolemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
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Genetic tests related to Sitosterolemia:

id Genetic test Affiliating Genes
1 Sitosterolemia20 22 ABCG8

Anatomical Context for Sitosterolemia

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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Sitosterolemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.2MTTP, CYP27A1, CYP7A1, ABCG8, ABCG5, ABCG1
2MP:00053706.9ABCG1, APOB, MTTP, CYP27A1, CYP7A1, ABCG8

Publications for Sitosterolemia

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50PubMed
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Articles related to Sitosterolemia:

(show top 50)    (show all 72)
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
Non-cholesterol sterols and cholesterol metabolism in sitosterolemia. (24267242)
2013
5
Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism. (20543520)
2010
6
The mouse mutation &quot;thrombocytopenia and cardiomyopathy&quot; (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia. (19846887)
2010
7
Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children. (20521169)
2010
8
Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia. (18156627)
2008
9
Long-term efficacy and safety of ezetimibe 10 mg in patients with homozygous sitosterolemia: a 2-year, open-label extension study. (18822021)
2008
10
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
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
Liver transplantation in a patient with sitosterolemia and cirrhosis. (16472606)
2006
14
Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues. (16331855)
2005
15
A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol. (15040800)
2004
16
Sitosterolemia in ABC-transporter G5-deficient mice is aggravated on activation of the liver-X receptor. (14699507)
2004
17
Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia. (14769702)
2004
18
Phenotypic heterogeneity of sitosterolemia. (15375183)
2004
19
Sitosterolemia--a rare disease. Are elevated plant sterols an additional risk factor? (15599566)
2004
20
A 19-year-old man with myocardial infarction and sitosterolemia. (12879952)
2003
21
Sitosterolemia: a gateway to new knowledge about cholesterol metabolism. (14649332)
2003
22
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. (11668628)
2001
23
An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus. (11435688)
2001
24
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. (11099417)
2000
25
Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis. (9610773)
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
Coronary bypass grafts in a young girl with sitosterolemia. (8781841)
1996
30
Sitosterolemia: opposing effects of cholestyramine and lovastatin on plasma sterol levels in a homozygous girl and her heterozygous father. (8637439)
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
Sitosterolemia (23556150)
1993
35
Sitosterolemia. (1431587)
1992
36
Familial spinal xanthomatosis with sitosterolemia. (1477463)
1992
37
Sluggish sitosterol turnover and hepatic failure to excrete sitosterol into bile cause expansion of body pool of sitosterol in patients with sitosterolemia and xanthomatosis. (1911714)
1991
38
A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis. (2394840)
1990
39
Unexpected failure of bile acid malabsorption to stimulate cholesterol synthesis in sitosterolemia with xanthomatosis. Comparison with lovastatin. (2317163)
1990
40
Spinal cord compression with paraplegia in xanthomatosis due to normocholesterolemic sitosterolemia. (2241122)
1990
41
Increased sitosterol absorption, decreased removal, and expanded body pools compensate for reduced cholesterol synthesis in sitosterolemia with xanthomatosis. (2600539)
1989
42
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
43
Competitive inhibition of bile acid synthesis by endogenous cholestanol and sitosterol in sitosterolemia with xanthomatosis. Effect on cholesterol 7 alpha-hydroxylase. (3143743)
1988
44
Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis. (3711338)
1986
45
Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia. (3706300)
1986
46
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
47
Identification of 5 alpha-stanols in patients with sitosterolemia and xanthomatosis: stereochemistry of the protonolysis of steroidal organoboranes. (6297129)
1982
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

Genetic Variations for Sitosterolemia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Sitosterolemia:

62 (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

Expression for genes affiliated with Sitosterolemia

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1BioGPS, 15Gene 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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53Reactome, 37NCBI BioSystems Database, 29KEGG, 49PharmGKB
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Pathways related to Sitosterolemia according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9ABCG5, ABCG8
29.9ABCG5, ABCG8
3
Hide members
9.7HMGCR, ACAT1
49.7CYP7A1, CYP27A1
5
Hide members
9.7CYP7A1, CYP27A1
69.5FDFT1, HMGCR
79.1HMGCR, ABCG5, ABCG8, CYP7A1
8
Hide members
9.1ACAT1, HMGCR, FDFT1
9
Hide members
9.0ABCG1, ABCG5, ABCG8
109.0CYP7A1, ABCG5, ABCG1
118.8APOB, MTTP, ABCG8, ABCG5
12
Hide members
8.7FDFT1, CYP7A1, HMGCR, ACAT1
13
Hide members
8.2ABCG8, ABCG5, ABCG1, HMGCR, ACAT1
14
Hide members
8.0CYP7A1, CYP27A1, FDFT1, MTTP, APOB
15
Hide members
8.0APOB, MTTP, ABCG8, ABCG5, ABCG1
16
Hide members
7.5HMGCR, ABCG5, ABCG8, CYP7A1, FDFT1, MTTP

Compounds for genes affiliated with Sitosterolemia

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44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Sitosterolemia according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1bile acid4410.0CYP7A1, HMGCR
2niceritrol449.9APOB, HMGCR
3colesevelam449.9APOB, HMGCR
4colestipol449.9HMGCR, APOB
5psyllium449.8HMGCR, APOB
6zaragozic acid a44 2810.8FDFT1, HMGCR
77beta-hydroxycholesterol449.8HMGCR, CYP7A1
8mttp449.8APOB, MTTP
9cholestanol449.8ABCG8, CYP7A1, CYP27A1
10lipovitellin449.7MTTP, APOB
11campesterol44 2410.7APOB, HMGCR
127alpha-hydroxy-4-cholesten-3-one449.7CYP27A1, CYP7A1, HMGCR
1324s-hydroxy-cholesterol449.7HMGCR, CYP7A1, CYP27A1
14farnesol44 28 11 2412.7FDFT1, HMGCR
15pluronic f127449.7APOB, MTTP
16cholestyramine449.6HMGCR, CYP7A1, APOB
17taurocholate449.6HMGCR, CYP7A1, APOB
18bezafibrate44 28 1111.5APOB, CYP7A1, HMGCR
197-ketocholesterol44 2410.5HMGCR, CYP27A1, APOB
20farnesyl diphosphate44 28 1111.5FDFT1, CYP7A1, HMGCR
21n-acetylleucylleucylnorleucinal449.5APOB, MTTP, HMGCR
22naringenin44 1110.4APOB, MTTP, HMGCR
237-dehydrocholesterol44 2410.4HMGCR, CYP27A1, FDFT1
24mevalonate449.4FDFT1, CYP7A1, HMGCR
25niacin44 1110.4HMGCR, MTTP, APOB
26squalene44 2410.3HMGCR, FDFT1, MTTP
27oleic acid44 28 11 2412.3CYP7A1, MTTP, APOB
28fenofibric acid44 2810.3APOB, HMGCR
29chenodeoxycholic acid44 28 11 2412.2APOB, CYP27A1, CYP7A1, HMGCR
30lactacystin449.2HMGCR, MTTP, APOB
31glucose449.1MTTP, CYP7A1, ABCG1
32sitosterol449.1APOB, CYP7A1, ABCG8, ABCG5, HMGCR
33pravastatin44 49 28 11 2413.0APOB, FDFT1, CYP7A1, HMGCR
34lovastatin44 49 59 28 1113.0APOB, FDFT1, HMGCR
3527-hydroxycholesterol44 289.9CYP27A1, CYP7A1, ABCG1, HMGCR
36ezetimibe44 119.9HMGCR, ABCG5, ABCG8, MTTP, APOB
37lathosterol44 249.8APOB, MTTP, CYP7A1, ABCG8, HMGCR
38phosphatidylcholine448.6APOB, MTTP, CYP7A1, ABCG1
39nadph44 249.6HMGCR, CYP7A1, CYP27A1, FDFT1
40cholesterol ester448.5APOB, MTTP, FDFT1, CYP7A1, HMGCR
41atorvastatin44 49 28 11 2412.5APOB, MTTP, FDFT1, CYP7A1, HMGCR
42simvastatin44 49 59 28 11 2413.4APOB, MTTP, FDFT1, CYP27A1, HMGCR
43phospholipid448.4APOB, MTTP, ABCG8, ABCG5, ABCG1
443-hydroxy-3-methylglutaryl-coa44 249.2MTTP, FDFT1, CYP7A1, ABCG1, HMGCR
45dexamethasone44 49 28 1111.2APOB, CYP27A1, CYP7A1, ABCG1, HMGCR
46fatty acid448.0ABCG1, FDFT1, MTTP, APOB
47atp44 289.0FDFT1, CYP27A1, CYP7A1, ABCG8, ABCG5, ABCG1
48sterol446.6ABCG1, ABCG5, ABCG8, CYP7A1, CYP27A1, FDFT1
49lipid446.6APOB, MTTP, FDFT1, CYP27A1, CYP7A1, ABCG8
50cholesterol44 28 11 249.2ACAT1, APOB, HMGCR, ABCG1, ABCG5, ABCG8

GO Terms for genes affiliated with Sitosterolemia

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16Gene Ontology
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Cellular components related to Sitosterolemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057897.8HMGCR, ABCG1, CYP7A1, FDFT1, APOB

Biological processes related to Sitosterolemia according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of intestinal phytosterol absorptionGO:01094910.1ABCG5, ABCG8
2negative regulation of intestinal cholesterol absorptionGO:04579610.1ABCG5, ABCG8
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
10lipoprotein transportGO:0429539.5MTTP, APOB
11cholesterol biosynthetic processGO:0066959.4HMGCR, FDFT1
12bile acid metabolic processGO:0082069.4CYP7A1, CYP27A1
13low-density lipoprotein particle remodelingGO:0343749.3ABCG1, APOB
14cellular lipid metabolic processGO:0442559.0FDFT1, CYP7A1, HMGCR, ACAT1
15cholesterol metabolic processGO:0082038.9ABCG1, CYP27A1, APOB
16lipoprotein metabolic processGO:0421578.9APOB, MTTP, ABCG1
17cholesterol effluxGO:0333448.8APOB, ABCG8, ABCG5, ABCG1
18cholesterol homeostasisGO:0426328.0ABCG1, APOB, MTTP, CYP7A1, ABCG8, ABCG5
19small molecule metabolic processGO:0442816.1APOB, MTTP, FDFT1, CYP27A1, CYP7A1, ABCG8

Molecular functions related to Sitosterolemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1coenzyme bindingGO:0506629.7ACAT1, HMGCR
2cholesterol transporter activityGO:0171278.4ABCG1, ABCG5, ABCG8, APOB
3protein heterodimerization activityGO:0469827.7APOB, MTTP, ABCG8, ABCG5, ABCG1

Products for genes affiliated with Sitosterolemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sitosterolemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet