MCID: STS003
MIFTS: 51

Sitosterolemia malady

Metabolic, Endocrine, Blood categories

Summaries for Sitosterolemia

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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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, spinal cord and monocytes, and related mouse phenotypes are homeostasis/metabolism and liver/biliary system.

Wikipedia:64 Sitosterolemia (also known as \"Phytosterolemia\") is a rare autosomal recessively inherited lipid... more...

Description from OMIM:47 210250

GeneReviews summary for stsl

Aliases & Classifications for Sitosterolemia

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
sitosterolemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

sitosterolemia 19 43 20 22 21 47 45 49 61
phytosterolemia 19 43 21 49
mediterranean macrothrombocytopenia 49 61
plant sterol storage disease 43 21
beta-sitosterolemia 19 21
retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body 43
sitosterolemia with xanthomatosis 61
xanthomatosis with sisterolemia 49
phytosterolæmia 19
phytosterolaemia 21
sitosterolaemia 21
sitosterolæmia 19


External Ids:

OMIM47 210250
MESH via Orphanet36 C537345
ICD10 via Orphanet26 E78.0, D69.1
SNOMED-CT via Orphanet58 238104009, 60628003
UMLS via Orphanet62 C0342907, C0272281

Related Diseases for Sitosterolemia

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Sitosterolemia:



Diseases related to sitosterolemia

Clinical Features for Sitosterolemia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

210250

Clinical synopsis from OMIM:

210250

Drugs & Therapeutics for Sitosterolemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Sitosterolemia:

id Genetic test Affiliating Genes
1 Sitosterolemia20 22 ABCG8

Anatomical Context for Sitosterolemia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Sitosterolemia:

33
Liver, Spinal cord, Monocytes

Animal Models for Sitosterolemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Sitosterolemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.2MTTP, CYP27A1, CYP7A1, ABCG8, ABCG5, ABCG1
2MP:00053706.9ABCG1, APOB, MTTP, CYP27A1, CYP7A1, ABCG8

Publications for Sitosterolemia

Sources:
51PubMed
See all sources

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
Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia. (23926302)
2013
3
Sitosterolemia: platelets on high-sterol diet. (24113795)
2013
4
Non-cholesterol sterols and cholesterol metabolism in sitosterolemia. (24267242)
2013
5
Sitosterolemia's stomatocytosis and macrothrombocytopenia. (23310983)
2012
6
Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism. (20543520)
2010
7
The mouse mutation &quot;thrombocytopenia and cardiomyopathy&quot; (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia. (19846887)
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
Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis. (16697747)
2006
12
Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities. (17018391)
2006
13
A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans. (16507104)
2006
14
Liver transplantation in a patient with sitosterolemia and cirrhosis. (16472606)
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
Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia. (14769702)
2004
18
A 19-year-old man with myocardial infarction and sitosterolemia. (12879952)
2003
19
Sitosterolemia: a gateway to new knowledge about cholesterol metabolism. (14649332)
2003
20
Novel donor splice site mutation of ABCG5 gene in sitosterolemia. (11855938)
2002
21
Sitosterolemia. (12481199)
2002
22
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
23
Genetic basis of sitosterolemia. (11264985)
2001
24
Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin- 2, encoded by ABCG5 and ABCG8, respectively. (11452359)
2001
25
Japanese sisters associated with pseudohomozygous familial hypercholesterolemia and sitosterolemia. (11425042)
2000
26
Tuberous xanthomas in sitosterolemia. (11123775)
2000
27
Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis. (9610773)
1998
28
Competitive inhibition of hepatic sterol 27-hydroxylase by sitosterol: decreased activity in sitosterolemia. (9460081)
1998
29
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
30
beta-Sitosterolemia with generalized eruptive xanthomatosis. (9152615)
1997
31
Coronary bypass grafts in a young girl with sitosterolemia. (8781841)
1996
32
Sitosterolemia: opposing effects of cholestyramine and lovastatin on plasma sterol levels in a homozygous girl and her heterozygous father. (8637439)
1996
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 (23556150)
1993
36
Sitosterolemia. (1431587)
1992
37
Increased sitosterol absorption is offset by rapid elimination to prevent accumulation in heterozygotes with sitosterolemia. (1576118)
1992
38
Familial spinal xanthomatosis with sitosterolemia. (1477463)
1992
39
Regulation of cholesterol biosynthesis in sitosterolemia: effects of lovastatin, cholestyramine, and dietary sterol restriction. (1816322)
1991
40
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
41
A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis. (2394840)
1990
42
Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis. (2380636)
1990
43
Unexpected failure of bile acid malabsorption to stimulate cholesterol synthesis in sitosterolemia with xanthomatosis. Comparison with lovastatin. (2317163)
1990
44
Response to diet and cholestyramine in a patient with sitosterolemia. (2251034)
1990
45
Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis. (3711338)
1986
46
Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis. (4067433)
1985
47
Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis. (3989379)
1985
48
Identification of 5 alpha-stanols in patients with sitosterolemia and xanthomatosis: stereochemistry of the protonolysis of steroidal organoboranes. (6297129)
1982
49
Beta-sitosterolemia and xanthomatosis. (1246333)
1976
50
Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. (4360855)
1974

Genetic Variations for Sitosterolemia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Sitosterolemia:

63 (show all 16)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 50PharmGKB
See all sources

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

Sources:
45Novoseek, 29IUPHAR, 24HMDB, 11DrugBank, 50PharmGKB, 60Tocris Bioscience
See all sources

Compounds related to Sitosterolemia according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1bile acid4510.0CYP7A1, HMGCR
2niceritrol459.9APOB, HMGCR
3colesevelam459.9APOB, HMGCR
4colestipol459.9HMGCR, APOB
5psyllium459.8HMGCR, APOB
6zaragozic acid a45 2910.8FDFT1, HMGCR
77beta-hydroxycholesterol459.8HMGCR, CYP7A1
8mttp459.8APOB, MTTP
9cholestanol459.8ABCG8, CYP7A1, CYP27A1
10lipovitellin459.7MTTP, APOB
11campesterol45 2410.7APOB, HMGCR
127alpha-hydroxy-4-cholesten-3-one459.7CYP27A1, CYP7A1, HMGCR
1324s-hydroxy-cholesterol459.7HMGCR, CYP7A1, CYP27A1
14farnesol45 29 11 2412.7FDFT1, HMGCR
15pluronic f127459.7APOB, MTTP
16cholestyramine459.6HMGCR, CYP7A1, APOB
17taurocholate459.6HMGCR, CYP7A1, APOB
18bezafibrate45 29 1111.5APOB, CYP7A1, HMGCR
197-ketocholesterol45 2410.5HMGCR, CYP27A1, APOB
20farnesyl diphosphate45 29 1111.5FDFT1, CYP7A1, HMGCR
21n-acetylleucylleucylnorleucinal459.5APOB, MTTP, HMGCR
22naringenin45 1110.4APOB, MTTP, HMGCR
237-dehydrocholesterol45 2410.4HMGCR, CYP27A1, FDFT1
24mevalonate459.4FDFT1, CYP7A1, HMGCR
25niacin45 1110.4HMGCR, MTTP, APOB
26squalene45 2410.3HMGCR, FDFT1, MTTP
27oleic acid45 29 11 2412.3CYP7A1, MTTP, APOB
28fenofibric acid45 2910.3APOB, HMGCR
29chenodeoxycholic acid45 29 11 2412.2APOB, CYP27A1, CYP7A1, HMGCR
30lactacystin459.2HMGCR, MTTP, APOB
31glucose459.1MTTP, CYP7A1, ABCG1
32sitosterol459.1APOB, CYP7A1, ABCG8, ABCG5, HMGCR
33pravastatin45 50 29 11 2413.0APOB, FDFT1, CYP7A1, HMGCR
34lovastatin45 50 60 29 1113.0APOB, FDFT1, HMGCR
3527-hydroxycholesterol45 299.9CYP27A1, CYP7A1, ABCG1, HMGCR
36ezetimibe45 119.9HMGCR, ABCG5, ABCG8, MTTP, APOB
37lathosterol45 249.8APOB, MTTP, CYP7A1, ABCG8, HMGCR
38phosphatidylcholine458.6APOB, MTTP, CYP7A1, ABCG1
39nadph45 249.6HMGCR, CYP7A1, CYP27A1, FDFT1
40cholesterol ester458.5APOB, MTTP, FDFT1, CYP7A1, HMGCR
41atorvastatin45 50 29 11 2412.5APOB, MTTP, FDFT1, CYP7A1, HMGCR
42simvastatin45 50 60 29 11 2413.4APOB, MTTP, FDFT1, CYP27A1, HMGCR
43phospholipid458.4APOB, MTTP, ABCG8, ABCG5, ABCG1
443-hydroxy-3-methylglutaryl-coa45 249.2MTTP, FDFT1, CYP7A1, ABCG1, HMGCR
45dexamethasone45 50 29 1111.2APOB, CYP27A1, CYP7A1, ABCG1, HMGCR
46fatty acid458.0ABCG1, FDFT1, MTTP, APOB
47atp45 299.0FDFT1, CYP27A1, CYP7A1, ABCG8, ABCG5, ABCG1
48sterol456.6ABCG1, ABCG5, ABCG8, CYP7A1, CYP27A1, FDFT1
49lipid456.6APOB, MTTP, FDFT1, CYP27A1, CYP7A1, ABCG8
50cholesterol45 29 11 249.2ACAT1, APOB, HMGCR, ABCG1, ABCG5, ABCG8

GO Terms for genes affiliated with Sitosterolemia

Sources:
16Gene Ontology
See all sources

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

Sources for Sitosterolemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet