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, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Sitosterolemia:

Name: Sitosterolemia 52 23 48 24 25 54 70 27 12 50 68
Phytosterolemia 23 48 24 25 54 70
Beta-Sitosterolemia 23 24 25
Mediterranean Macrothrombocytopenia 54 68
Plant Sterol Storage Disease 48 25
Phytosterolaemia 24 25
Sitosterolaemia 24 25
 
Retention of Dietary Cholesterol and Abnormal Retention of Non-Cholesterol Sterols in the Body 48
Sitosterolemia with Xanthomatosis 68
Shellfish Sterolemia 70
Phytosterolæmia 23
Sitosterolæmia 23
Stsl 70

Characteristics:

Orphanet epidemiological data:

54
sitosterolemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages

HPO:

64
sitosterolemia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 210250
MESH via Orphanet40 C537345
UMLS via Orphanet69 C0342907, C0272281
ICD10 via Orphanet31 E78.0, D69.1

Summaries for Sitosterolemia

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NIH Rare Diseases:48 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 Decreased free cholesterol and homeostasis/metabolism.

UniProtKB/Swiss-Prot:70 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:52 Sitosterolemia, also known as phytosterolemia, is an autosomal recessive metabolic condition characterized by... (210250) more...

Wikipedia:71 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 & Phenotypes for Sitosterolemia

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Symptoms by clinical synopsis from OMIM:

210250

Clinical features from OMIM:

210250

Human phenotypes related to Sitosterolemia:

 64 (show all 16)
id Description HPO Frequency HPO Source Accession
1 arthritis64 HP:0001369
2 abnormality of the liver64 HP:0001392
3 abnormality of the integument64 HP:0001574
4 splenomegaly64 HP:0001744
5 abnormal bleeding64 HP:0001892
6 giant platelets64 HP:0001902
7 reticulocytosis64 HP:0001923
8 abdominal pain64 HP:0002027
9 arthralgia64 HP:0002829
10 hypercholesterolemia64 HP:0003124
11 impaired platelet aggregation64 HP:0003540
12 stomatocytosis64 HP:0004446
13 episodic hemolytic anemia64 HP:0004802
14 chronic hemolytic anemia64 HP:0004870
15 coronary atherosclerosis64 HP:0004929
16 hyperapobetalipoproteinemia64 HP:0008158

UMLS symptoms related to Sitosterolemia:


abdominal pain

GenomeRNAi Phenotypes related to Sitosterolemia according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00340-A-210.3ABCG8, APOB, HMGCR

MGI Mouse Phenotypes related to Sitosterolemia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.3ABCG1, ABCG5, ABCG8, APOB, CYP27A1, CYP7A1
2MP:00053706.6ABCG1, ABCG5, ABCG8, APOB, CYP27A1, CYP7A1

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 Sitosterolemia27 24 ABCG8

Anatomical Context for Sitosterolemia

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MalaCards organs/tissues related to Sitosterolemia:

36
Liver, Testes, Heart, Skin, Monocytes, Spinal cord

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
Two novel mutations in the ABCG5 gene, c.144 -1G>A and c.1523 delC, in a Mexican family with sitosterolemia. (26892138)
2016
5
A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing. (27170062)
2016
6
Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia. (25444527)
2015
7
Hepatic or intestinal ABCG5 and ABCG8 are sufficient to block the development of sitosterolemia. (25527605)
2015
8
Plant Sterols, Stanols, and Sitosterolemia. (25941971)
2015
9
An unusual occurrence of hepatic granulomas and secondary sitosterolemia in turner syndrome. (25705228)
2015
10
Sitosterolemia: diagnosis, investigation, and management. (24821603)
2014
11
Sitosterolemia: a new mutation in a Mediterranean patient. (25110228)
2014
12
Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. (24423340)
2014
13
Ezetimibe treatment should be considered for patients with sitosterolemia. (24839218)
2014
14
Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia. (23926302)
2013
15
Sitosterolemia: platelets on high-sterol diet. (24113795)
2013
16
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. (24166850)
2013
17
Non-cholesterol sterols and cholesterol metabolism in sitosterolemia. (24267242)
2013
18
Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism. (20543520)
2010
19
The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia. (19846887)
2010
20
Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children. (20521169)
2010
21
Genetic inactivation of NPC1L1 protects against sitosterolemia in mice lacking ABCG5/ABCG8. (18796403)
2009
22
Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia. (18156627)
2008
23
Long-term efficacy and safety of ezetimibe 10 mg in patients with homozygous sitosterolemia: a 2-year, open-label extension study. (18822021)
2008
24
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
25
Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis. (16697747)
2006
26
A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans. (16507104)
2006
27
Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities. (17018391)
2006
28
Liver transplantation in a patient with sitosterolemia and cirrhosis. (16472606)
2006
29
Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues. (16331855)
2005
30
A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol. (15040800)
2004
31
Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia. (14769702)
2004
32
Phenotypic heterogeneity of sitosterolemia. (15375183)
2004
33
Sitosterolemia in ABC-transporter G5-deficient mice is aggravated on activation of the liver-X receptor. (14699507)
2004
34
Sitosterolemia--a rare disease. Are elevated plant sterols an additional risk factor? (15599566)
2004
35
Sitosterolemia: a gateway to new knowledge about cholesterol metabolism. (14649332)
2003
36
A 19-year-old man with myocardial infarction and sitosterolemia. (12879952)
2003
37
Novel donor splice site mutation of ABCG5 gene in sitosterolemia. (11855938)
2002
38
Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia. (12124998)
2002
39
Sitosterolemia. (12481199)
2002
40
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. (11668628)
2001
41
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
42
Macrophage 3-hydroxy-3-methylglutaryl coenzyme a reductase activity in sitosterolemia: effects of increased cellular cholesterol and sitosterol concentrations. (11586498)
2001
43
Genetic basis of sitosterolemia. (11264985)
2001
44
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
45
Japanese sisters associated with pseudohomozygous familial hypercholesterolemia and sitosterolemia. (11425042)
2000
46
Tuberous xanthomas in sitosterolemia. (11123775)
2000
47
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. (11099417)
2000
48
Sitosterolemia in the Pediatric Population (27809447)
2000
49
Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis. (9610773)
1998
50
Competitive inhibition of hepatic sterol 27-hydroxylase by sitosterol: decreased activity in sitosterolemia. (9460081)
1998

Variations for Sitosterolemia

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UniProtKB/Swiss-Prot genetic disease variations for Sitosterolemia:

70 (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:00432359.5ABCG5, ABCG8, MTTP
3intracellular membrane-bounded organelleGO:00432319.0ABCG1, APOB, CYP7A1, FDFT1, HMGCR
4endoplasmic reticulumGO:00057838.7APOB, FDFT1, HMGCR, MTTP, SOAT1
5endoplasmic reticulum membraneGO:00057898.3ABCG1, APOB, CYP7A1, FDFT1, HMGCR, SOAT1

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1excretionGO:000758810.6ABCG5, ABCG8
2intestinal cholesterol absorptionGO:003029910.6ABCG5, ABCG8
3negative regulation of intestinal cholesterol absorptionGO:004579610.6ABCG5, ABCG8
4negative regulation of intestinal phytosterol absorptionGO:001094910.6ABCG5, ABCG8
5sterol transportGO:001591810.5ABCG5, ABCG8
6phospholipid transportGO:001591410.5ABCG8, MTTP
7lipoprotein biosynthetic processGO:004215810.4APOB, MTTP
8lipoprotein transportGO:004295310.4APOB, MTTP
9cholesterol transportGO:003030110.4ABCG1, APOB
10bile acid biosynthetic processGO:000669910.4CYP27A1, CYP7A1
11low-density lipoprotein particle remodelingGO:003437410.4ABCG1, APOB
12cholesterol biosynthetic processGO:000669510.3FDFT1, HMGCR
13isoprenoid biosynthetic processGO:000829910.3FDFT1, HMGCR
14sterol metabolic processGO:001612510.3CYP27A1, CYP7A1
15response to nutrientGO:000758410.2ABCG5, ABCG8, HMGCR
16lipoprotein metabolic processGO:004215710.0ABCG1, APOB, MTTP
17transmembrane transportGO:00550859.7ABCG1, ABCG5, ABCG8
18cholesterol metabolic processGO:00082039.6ABCG1, APOB, SOAT1
19oxidation-reduction processGO:00551149.4CYP27A1, CYP7A1, FDFT1, HMGCR
20very-low-density lipoprotein particle assemblyGO:00343799.3APOB, SOAT1
21cholesterol effluxGO:00333449.0ABCG1, ABCG5, ABCG8, APOB, SOAT1
22cholesterol homeostasisGO:00426328.2ABCG1, 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:004262610.6ABCG5, ABCG8
2phospholipid transporter activityGO:000554810.3ABCG1, MTTP
3coenzyme bindingGO:005066210.2ACAT1, HMGCR
4cholesterol bindingGO:00154859.9ABCG1, SOAT1
5cholesterol transporter activityGO:00171279.7ABCG1, ABCG5, ABCG8, APOB
6protein heterodimerization activityGO:00469829.0ABCG1, ABCG5, ABCG8, MTTP

Sources for Sitosterolemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet