MCID: STS003
MIFTS: 57

Sitosterolemia malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Endocrine diseases, Blood diseases

Aliases & Classifications for Sitosterolemia

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Sources:
12diseasecard, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Sitosterolemia:

Name: Sitosterolemia 51 23 47 24 25 53 69 26 12 49 67
Phytosterolemia 23 47 24 25 53 69
Beta-Sitosterolemia 23 24 25
Mediterranean Macrothrombocytopenia 53 67
Plant Sterol Storage Disease 47 25
Phytosterolaemia 24 25
Sitosterolaemia 24 25
 
Retention of Dietary Cholesterol and Abnormal Retention of Non-Cholesterol Sterols in the Body 47
Sitosterolemia with Xanthomatosis 67
Shellfish Sterolemia 69
Phytosterolæmia 23
Sitosterolæmia 23
Stsl 69

Characteristics:

Orphanet epidemiological data:

53
sitosterolemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages

HPO:

63
sitosterolemia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 210250
MESH via Orphanet39 C537345
UMLS via Orphanet68 C0342907, C0272281
ICD10 via Orphanet30 E78.0, D69.1

Summaries for Sitosterolemia

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NIH Rare Diseases:47 Sitosterolemia is a rare inherited condition in which plant sterols accumulate in the blood and tissues. Plant sterols, including sitosterol, stigmasterol, and campesterol, are fatty substances found in vegetable oils and nuts. Individuals with sitosterolemia have extremely high levels of sitosterol (30 to 100 times higher than normal), along with mildly to moderately elevated levels of cholesterol in their blood. These plant sterols and cholesterol build up in the arteries, leading to premature thickening of the artery walls and early heart disease. Affected individuals may also develop small yellowish growths called xanthomas on or under the skin and in the tendons. Sitosterolemia is caused by mutations in the ABCG5 or ABCG8 gene. The condition is inherited in an autosomal recessive pattern. Treatment involves restricting foods that are high in plant and shellfish sterols, and taking medications that decrease the concentration of these products in the blood. Last updated: 4/12/2016

MalaCards based summary: Sitosterolemia, also known as phytosterolemia, is related to cerebrotendinous xanthomatosis and bernard-soulier syndrome, type a2, and has symptoms including arthritis, abnormality of the liver and abnormality of the integument. An important gene associated with Sitosterolemia is ABCG8 (ATP Binding Cassette Subfamily G Member 8), and among its related pathways are Vitamin A and carotenoid metabolism and Bisphosphonate Pathway, Pharmacodynamics. Affiliated tissues include liver, testes and heart, and related mouse phenotypes are homeostasis/metabolism and liver/biliary system.

UniProtKB/Swiss-Prot:69 Sitosterolemia: Rare autosomal recessive disorder characterized by increased intestinal absorption of all sterols including cholesterol, plant and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Sitosterolemia patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease.

Genetics Home Reference:25 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. However, some people with sitosterolemia have normal cholesterol levels.

OMIM:51 Sitosterolemia, also known as phytosterolemia, is an autosomal recessive metabolic condition characterized by... (210250) more...

Wikipedia:70 Sitosterolemia (also known as \"Phytosterolemia\") is a rare autosomal recessively inherited lipid... more...

GeneReviews for NBK131810

Related Diseases for Sitosterolemia

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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

Human phenotypes related to Sitosterolemia:

 63 (show all 16)
id Description HPO Frequency HPO Source Accession
1 arthritis63 HP:0001369
2 abnormality of the liver63 HP:0001392
3 abnormality of the integument63 HP:0001574
4 splenomegaly63 HP:0001744
5 abnormal bleeding63 HP:0001892
6 giant platelets63 HP:0001902
7 reticulocytosis63 HP:0001923
8 abdominal pain63 HP:0002027
9 arthralgia63 HP:0002829
10 hypercholesterolemia63 HP:0003124
11 impaired platelet aggregation63 HP:0003540
12 stomatocytosis63 HP:0004446
13 episodic hemolytic anemia63 HP:0004802
14 chronic hemolytic anemia63 HP:0004870
15 coronary atherosclerosis63 HP:0004929
16 hyperapobetalipoproteinemia63 HP:0008158

UMLS symptoms related to Sitosterolemia:


abdominal pain

Drugs & Therapeutics for Sitosterolemia

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Drugs for Sitosterolemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EzetimibeapprovedPhase 3, Phase 2272163222-33-1150311
Synonyms:
(-)-Sch 58235
(1-(4-fluorophenyl)-(3R)-(3-(4-fluorophenyl)-(3S)-hydroxypropyl)-(4S)-(4-hydroxyphenyl)-2-azetidinone)
(3R,4S)-1-(4-fluorophenyl)-3-[(3S)-3-(4-fluorophenyl)-3-hydroxypropyl]-4-(4-hydroxyphenyl)azetidin-2-one
(3R,4S)-1-(p-Fluorophenyl)-3-((3S)-3-(p-fluorophenyl)-3-hydroxypropyl)-4-(p-hydroxyphenyl)-2-azetidinone
1-(4-fluorophenyl)-3(R)-[3-(4-fluorophenyl)-3(S)-(4-hydroxyphenyl)-2-azetidione
1-(4-fluorophenyl)-3(R)-[3-(4-fluorophenyl)-3(S)-hydroxypropyl]-4(S)-(4-hydroxyphenyl)-2-azetidinone
163222-33-1
AC-1057
AC1L442L
C108606
CHEBI:49040
CHEMBL1138
CID150311
CPD000466334
D01966
DB00973
Essex brand of ezetimibe
Ezedoc
Ezetimiba
Ezetimibe
Ezetimibe (JAN/USAN/INN)
Ezetimibe [USAN:INN]
Ezetimibum
 
Ezetrol
HMS2051K16
LS-181801
MK-0653
MLS000759443
MLS001424125
MSD brand of ezetimibe
Merck brand of ezetimibe
MolPort-005-938-627
S1655_Selleck
SAM001246623
SCH-58235
SCH58235
SMR000466334
STK640490
STOCK6S-73750
Sch 58235
Schering-Plough brand of ezetimibe
UNII-EOR26LQQ24
ZINC03810860
Zetia
Zetia (TN)
Zetia , Ezetrol, Ezetimibe
Zient
ezetimib
2Anticholesteremic AgentsPhase 3, Phase 21983
3Lipid Regulating AgentsPhase 3, Phase 22702
4Hypolipidemic AgentsPhase 3, Phase 22721
5Gamma-sitosterolPhase 3, Phase 25
6AntimetabolitesPhase 3, Phase 211774
7PhytosterolNutraceuticalPhase 3, Phase 2, Phase 1115
8insulin4524
9Insulin, Globin Zinc4523
10Colesevelam Hydrochloride47
11Omega 3 Fatty AcidNutraceutical969

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1An Investigational Drug Study to Lower Non-Cholesterol Sterol Levels Associated With Sitosterolemia (0653-062)(COMPLETED)CompletedNCT00092898Phase 3
2Sitosterolemia Extension Study (0653-003)(COMPLETED)CompletedNCT00092807Phase 3
3Sitosterolemia Extension Study (0653-004)(COMPLETED)CompletedNCT00092820Phase 3
4Higher-Dose Ezetimibe to Treat Homozygous SitosterolemiaCompletedNCT00099996Phase 3
5Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED)TerminatedNCT00092833Phase 3
6SCH-58235 (Ezetimibe) to Treat Homozygous SitosterolemiaCompletedNCT00045812Phase 2
7Cholesterol Metabolism in Heterozygous PhytosterolemiaCompletedNCT01102647Phase 1
8Genetic Study of SitosterolemiaCompletedNCT00004481
9The Effect of Dietary Sitosterol on Blood Sugar and CholesterolCompletedNCT00531128
10A 52-week Post-marketing, Observational Study to Confirm the Safety and Efficacy of Zetia Alone or in Combination With Other Lipid-lowering Drugs in Japanese Subjects With Hypercholesterolemia (Study P05245)CompletedNCT00705211
11A 12-week Post-marketing, Observational Study to Confirm the Safety and Efficacy of Zetia Alone or in Combination With Other Lipid-lowering Drugs in Japanese Subjects With Hypercholesterolemia (Study P05244)CompletedNCT00704444
12Sitosterolemia MetabolismActive, not recruitingNCT01584206
13Effects of Fish Oil and ColesevelamNot yet recruitingNCT01948648

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 Sitosterolemia26 24 ABCG8

Anatomical Context for Sitosterolemia

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MalaCards organs/tissues related to Sitosterolemia:

35
Liver, Testes, Heart, Skin, Monocytes, Spinal cord

Animal Models for Sitosterolemia or affiliated genes

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MGI Mouse Phenotypes related to Sitosterolemia:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.3ABCG1, ABCG5, ABCG8, APOB, CYP27A1, CYP7A1
2MP:00053706.6ABCG1, ABCG5, ABCG8, APOB, CYP27A1, CYP7A1

Publications for Sitosterolemia

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Articles related to Sitosterolemia:

(show top 50)    (show all 85)
idTitleAuthorsYear
1
Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management. (27104173)
2016
2
Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia. (27231115)
2016
3
Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia. (27401767)
2016
4
Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia. (25444527)
2015
5
Sitosterolemia: diagnosis, investigation, and management. (24821603)
2014
6
Sitosterolemia: a new mutation in a Mediterranean patient. (25110228)
2014
7
Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. (24423340)
2014
8
Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia. (23926302)
2013
9
Sitosterolemia: platelets on high-sterol diet. (24113795)
2013
10
Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism. (20543520)
2010
11
The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia. (19846887)
2010
12
Genetic inactivation of NPC1L1 protects against sitosterolemia in mice lacking ABCG5/ABCG8. (18796403)
2009
13
Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis. (16697747)
2006
14
A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans. (16507104)
2006
15
Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities. (17018391)
2006
16
Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues. (16331855)
2005
17
A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol. (15040800)
2004
18
Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia. (14769702)
2004
19
Phenotypic heterogeneity of sitosterolemia. (15375183)
2004
20
Sitosterolemia: a gateway to new knowledge about cholesterol metabolism. (14649332)
2003
21
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. (11668628)
2001
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
Japanese sisters associated with pseudohomozygous familial hypercholesterolemia and sitosterolemia. (11425042)
2000
24
Tuberous xanthomas in sitosterolemia. (11123775)
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
Sitosterolemia. (9090303)
1997
30
beta-Sitosterolemia with generalized eruptive xanthomatosis. (9152615)
1997
31
Coronary bypass grafts in a young girl with sitosterolemia. (8781841)
1996
32
A marked and sustained reduction in LDL sterols by diet and cholestyramine in beta-sitosterolemia. (8529322)
1995
33
Deficient ileal 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in sitosterolemia: sitosterol is not a feedback inhibitor of intestinal cholesterol biosynthesis. (8028508)
1994
34
Inverse relationship between plasma cholestanol concentrations and bile acid synthesis in sitosterolemia. (7852865)
1994
35
Sitosterolemia (23556150)
1993
36
Increased sitosterol absorption is offset by rapid elimination to prevent accumulation in heterozygotes with sitosterolemia. (1576118)
1992
37
Regulation of cholesterol biosynthesis in sitosterolemia: effects of lovastatin, cholestyramine, and dietary sterol restriction. (1816322)
1991
38
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
39
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
40
A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis. (2394840)
1990
41
Unexpected failure of bile acid malabsorption to stimulate cholesterol synthesis in sitosterolemia with xanthomatosis. Comparison with lovastatin. (2317163)
1990
42
Increased sitosterol absorption, decreased removal, and expanded body pools compensate for reduced cholesterol synthesis in sitosterolemia with xanthomatosis. (2600539)
1989
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
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
45
Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia. (3706300)
1986
46
Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis. (3711338)
1986
47
Identification of 5 alpha-stanols in patients with sitosterolemia and xanthomatosis: stereochemistry of the protonolysis of steroidal organoboranes. (6297129)
1982
48
A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia. (7258222)
1981
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:

69 (show all 16)
id Symbol AA change Variation ID SNP ID
1ABCG5p.Glu146GlnVAR_012244rs758551848
2ABCG5p.Arg389HisVAR_012245rs119480069
3ABCG5p.Arg419HisVAR_012246rs119479067
4ABCG5p.Arg419ProVAR_012247rs119479067
5ABCG5p.Arg550SerVAR_012248
6ABCG5p.Asn437LysVAR_020781rs575266356
7ABCG8p.Arg184HisVAR_012252rs766212636
8ABCG8p.Pro231ThrVAR_012253rs137852993
9ABCG8p.Arg263GlnVAR_012256rs137852990
10ABCG8p.Arg405HisVAR_012258
11ABCG8p.Leu501ProVAR_012259
12ABCG8p.Arg543SerVAR_012260rs201690654
13ABCG8p.Leu572ProVAR_012262rs769576789
14ABCG8p.Gly574GluVAR_012263
15ABCG8p.Gly574ArgVAR_012264rs137852988
16ABCG8p.Leu596ArgVAR_012266rs137852992

Clinvar genetic disease variations for Sitosterolemia:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1ABCG5NM_022436.2(ABCG5): c.978delA (p.Glu326Aspfs)deletionLikely pathogenicrs869025350GRCh37Chr 2, 44051498: 44051498
2ABCG5NM_022436.2(ABCG5): c.46C> T (p.Gln16Ter)SNVPathogenicrs387906912GRCh37Chr 2, 44065773: 44065773
3ABCG5NM_022436.2(ABCG5): c.1336C> T (p.Arg446Ter)SNVLikely pathogenic, Pathogenicrs199689137GRCh37Chr 2, 44050063: 44050063
4ABCG8NM_022437.2(ABCG8): c.320C> G (p.Ser107Ter)SNVPathogenicrs137854891GRCh37Chr 2, 44073448: 44073448
5ABCG8NM_022437.2(ABCG8): c.1083G> A (p.Trp361Ter)SNVPathogenicrs137852987GRCh37Chr 2, 44099233: 44099233
6ABCG8NM_022437.2(ABCG8): c.1720G> A (p.Gly574Arg)SNVLikely pathogenic, Pathogenicrs137852988GRCh37Chr 2, 44102516: 44102516
7ABCG8NM_022437.2(ABCG8): c.1974C> G (p.Tyr658Ter)SNVPathogenicrs137852989GRCh37Chr 2, 44105004: 44105004
8ABCG8NM_022437.2(ABCG8): c.788G> A (p.Arg263Gln)SNVPathogenicrs137852990GRCh37Chr 2, 44079831: 44079831
9ABCG8NM_022437.2(ABCG8): c.547delC (p.Gln183Serfs)deletionPathogenicrs387906323GRCh37Chr 2, 44078947: 44078947
10ABCG8NM_022437.2(ABCG8): c.1234C> T (p.Arg412Ter)SNVLikely pathogenic, Pathogenicrs137852991GRCh37Chr 2, 44100948: 44100948
11ABCG8NM_022437.2(ABCG8): c.1787T> G (p.Leu596Arg)SNVPathogenicrs137852992GRCh37Chr 2, 44104730: 44104730
12ABCG8NM_022437.2(ABCG8): c.691C> A (p.Pro231Thr)SNVPathogenicrs137852993GRCh37Chr 2, 44079622: 44079622
13ABCG5NM_022436.2(ABCG5): c.1222C> T (p.Arg408Ter)SNVPathogenicrs119479065GRCh37Chr 2, 44051154: 44051154
14ABCG5NM_022436.2(ABCG5): c.727C> T (p.Arg243Ter)SNVPathogenicrs119479066GRCh37Chr 2, 44053568: 44053568
15ABCG5NM_022436.2(ABCG5): c.1256G> A (p.Arg419His)SNVPathogenicrs119479067GRCh37Chr 2, 44051120: 44051120
16ABCG5NM_022436.2(ABCG5): c.1256G> C (p.Arg419Pro)SNVPathogenicrs119479067GRCh37Chr 2, 44051120: 44051120
17ABCG5NM_022436.2(ABCG5): c.1166G> A (p.Arg389His)SNVPathogenicrs119480069GRCh37Chr 2, 44051210: 44051210
18ABCG5NM_022436.2(ABCG5): c.229G> T (p.Glu77Ter)SNVPathogenicrs119480070GRCh37Chr 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 Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.9ABCG5, ABCG8
2
Show member pathways
9.6FDFT1, HMGCR
39.4ABCG1, ABCG5, CYP7A1
49.2ABCG5, ABCG8, CYP7A1, HMGCR
5
Show member pathways
9.1ABCG5, ABCG8, APOB, MTTP
6
Show member pathways
9.0ACAT1, FDFT1, HMGCR
7
Show member pathways
8.7ACAT1, CYP7A1, FDFT1, HMGCR
8
Show member pathways
8.7ABCG1, ABCG5, ABCG8, APOB, MTTP
9
Show member pathways
7.1ABCG5, ABCG8, APOB, CYP7A1, FDFT1, HMGCR
10
Show member pathways
6.3ABCG1, ABCG5, ABCG8, ACAT1, APOB, CYP27A1

GO Terms for genes affiliated with Sitosterolemia

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Cellular components related to Sitosterolemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATP-binding cassette (ABC) transporter complexGO:004319010.7ABCG5, ABCG8
2receptor complexGO:004323510.0ABCG5, ABCG8, MTTP
3intracellular membrane-bounded organelleGO:00432318.4ABCG1, APOB, CYP7A1, FDFT1, HMGCR
4endoplasmic reticulumGO:00057838.0APOB, FDFT1, HMGCR, MTTP, SOAT1
5endoplasmic reticulum membraneGO:00057897.3ABCG1, APOB, CYP7A1, FDFT1, HMGCR, SOAT1

Biological processes related to Sitosterolemia according to GeneCards Suite gene sharing:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of intestinal phytosterol absorptionGO:001094910.6ABCG5, ABCG8
2negative regulation of intestinal cholesterol absorptionGO:004579610.6ABCG5, ABCG8
3sterol transportGO:001591810.6ABCG5, ABCG8
4intestinal cholesterol absorptionGO:003029910.5ABCG5, ABCG8
5excretionGO:000758810.5ABCG5, ABCG8
6lipoprotein biosynthetic processGO:004215810.4APOB, MTTP
7phospholipid transportGO:001591410.4ABCG8, MTTP
8lipoprotein transportGO:004295310.3APOB, MTTP
9low-density lipoprotein particle remodelingGO:003437410.2ABCG1, APOB
10cholesterol transportGO:003030110.2ABCG1, APOB
11isoprenoid biosynthetic processGO:000829910.2FDFT1, HMGCR
12bile acid biosynthetic processGO:000669910.1CYP27A1, CYP7A1
13response to nutrientGO:000758410.0ABCG5, ABCG8, HMGCR
14sterol metabolic processGO:001612510.0CYP27A1, CYP7A1
15cholesterol biosynthetic processGO:000669510.0FDFT1, HMGCR
16lipoprotein metabolic processGO:00421579.8ABCG1, APOB, MTTP
17very-low-density lipoprotein particle assemblyGO:00343799.7APOB, SOAT1
18cholesterol metabolic processGO:00082039.2ABCG1, APOB, SOAT1
19transmembrane transportGO:00550859.1ABCG1, ABCG5, ABCG8
20cholesterol effluxGO:00333448.9ABCG1, ABCG5, ABCG8, APOB, SOAT1
21oxidation-reduction processGO:00551148.8CYP27A1, CYP7A1, FDFT1, HMGCR
22cholesterol homeostasisGO:00426327.9ABCG1, ABCG5, ABCG8, APOB, CYP7A1, MTTP

Molecular functions related to Sitosterolemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupled to transmembrane movement of substancesGO:004262610.2ABCG5, ABCG8
2coenzyme bindingGO:005066210.0ACAT1, HMGCR
3phospholipid transporter activityGO:00055489.9ABCG1, MTTP
4cholesterol bindingGO:00154859.6ABCG1, SOAT1
5cholesterol transporter activityGO:00171279.4ABCG1, ABCG5, ABCG8, APOB
6protein heterodimerization activityGO:00469829.0ABCG1, ABCG5, ABCG8, MTTP

Sources for Sitosterolemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet