MCID: STS003
MIFTS: 58

Sitosterolemia

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Sitosterolemia

MalaCards integrated aliases for Sitosterolemia:

Name: Sitosterolemia 54 12 23 50 24 25 71 29 13 52 42 14 69
Phytosterolemia 12 23 50 24 25 71
Beta-Sitosterolemia 23 24 25
Plant Sterol Storage Disease 50 25
Phytosterolaemia 24 25
Sitosterolaemia 24 25
Retention of Dietary Cholesterol and Abnormal Retention of Non-Cholesterol Sterols in the Body 50
Sitosterolemia with Xanthomatosis 69
Shellfish Sterolemia 71
Phytosterolæmia 23
Sitosterolæmia 23
Stsl 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
sitosterolemia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sitosterolemia

NIH Rare Diseases : 50 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 anĀ autosomal recessiveĀ 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 arthritis, and has symptoms including hypercholesterolemia, reticulocytosis and splenomegaly. An important gene associated with Sitosterolemia is ABCG5 (ATP Binding Cassette Subfamily G Member 5), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Ezetimibe and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and liver, and related phenotypes are Decreased free cholesterol and homeostasis/metabolism

UniProtKB/Swiss-Prot : 71 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 : 54
Sitosterolemia, also known as phytosterolemia, is an autosomal recessive metabolic condition characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol. Patients with this disorder have very high levels of plant sterols in the plasma and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease (summary by Berge et al., 2000). (210250)

Disease Ontology : 12 An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has material basis in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21.

Wikipedia : 72 Sitosterolemia (also known as \"Phytosterolemia\") is a rare autosomal recessively inherited lipid... more...

GeneReviews: NBK131810

Related Diseases for Sitosterolemia

Graphical network of the top 20 diseases related to Sitosterolemia:



Diseases related to Sitosterolemia

Symptoms & Phenotypes for Sitosterolemia

Symptoms via clinical synopsis from OMIM:

54

Hematology:
reticulocytosis
episodic hemolysis
chronic hemolytic anemia
stomatocytosis
platelet abnormalities
more
Skeletal- Limbs:
arthritis
joint arthralgia

Abdomen:
abdominal pain

Muscle Soft Tissue:
tendinous and tuberous xanthoma

Abdomen- Spleen:
splenomegaly

Cardiovascular- Vascular:
atherosclerosis
coronary atherosclerosis

Abdomen- Liver:
cholesterol biosynthesis severely depressed

Laboratory- Abnormalities:
elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia)
hyperapobetalipoproteinemia
elevated plasma campesterol
elevated plasma stigmasterol
microsomal hmg-coa reductase decreased
more

Clinical features from OMIM:

210250

Human phenotypes related to Sitosterolemia:

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 hypercholesterolemia 32 HP:0003124
2 reticulocytosis 32 HP:0001923
3 splenomegaly 32 HP:0001744
4 arthritis 32 HP:0001369
5 abdominal pain 32 HP:0002027
6 coronary atherosclerosis 32 HP:0004929
7 chronic hemolytic anemia 32 HP:0004870
8 stomatocytosis 32 HP:0004446
9 giant platelets 32 HP:0001902
10 impaired platelet aggregation 32 HP:0003540
11 hyperapobetalipoproteinemia 32 HP:0008158
12 arthralgia 32 HP:0002829
13 abnormal bleeding 32 HP:0001892
14 abnormality of the liver 32 HP:0001392
15 episodic hemolytic anemia 32 HP:0004802
16 abnormality of the integument 32 HP:0001574

UMLS symptoms related to Sitosterolemia:


abdominal pain

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.8 ABCG8 APOB HMGCR

MGI Mouse Phenotypes related to Sitosterolemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.61 ABCG1 ABCG5 ABCG8 APOB CYP27A1 CYP7A1
2 liver/biliary system MP:0005370 9.28 ABCG1 ABCG5 ABCG8 APOB CYP27A1 CYP7A1

Drugs & Therapeutics for Sitosterolemia

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

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ezetimibe Approved Phase 3,Phase 2 163222-33-1 150311
2 Anticholesteremic Agents Phase 3,Phase 2
3 Antimetabolites Phase 3,Phase 2
4 Hypolipidemic Agents Phase 3,Phase 2
5 Lipid Regulating Agents Phase 3,Phase 2
6 Gamma-sitosterol Phase 3,Phase 2
7 Phytosterol Nutraceutical Phase 3,Phase 2,Phase 1
8 insulin
9 Insulin, Globin Zinc
10 Colesevelam Hydrochloride
11 Omega 3 Fatty Acid Nutraceutical

Interventional clinical trials:

(show all 13)

id Name Status NCT ID Phase Drugs
1 An Investigational Drug Study to Lower Non-Cholesterol Sterol Levels Associated With Sitosterolemia (0653-062)(COMPLETED) Completed NCT00092898 Phase 3 MK0653, ezetimibe;Comparator: placebo
2 Sitosterolemia Extension Study (0653-003)(COMPLETED) Completed NCT00092807 Phase 3 MK0653, ezetimibe;Comparator: placebo
3 Sitosterolemia Extension Study (0653-004)(COMPLETED) Completed NCT00092820 Phase 3 MK0653, ezetimibe;Comparator: placebo
4 Higher-Dose Ezetimibe to Treat Homozygous Sitosterolemia Completed NCT00099996 Phase 3 SCH-58235;Ezetimibe
5 Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED) Terminated NCT00092833 Phase 3 Comparator: ezetimibe
6 SCH-58235 (Ezetimibe) to Treat Homozygous Sitosterolemia Completed NCT00045812 Phase 2 SCH-58235
7 Cholesterol Metabolism in Heterozygous Phytosterolemia Completed NCT01102647 Phase 1
8 Genetic Study of Sitosterolemia Completed NCT00004481
9 The Effect of Dietary Sitosterol on Blood Sugar and Cholesterol Completed NCT00531128
10 A 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) Completed NCT00705211 Ezetimibe;Ezetimibe + other lipid-lowering medication(s)
11 A 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) Completed NCT00704444 Ezetimibe;Ezetimibe + other lipid-lowering medication(s)
12 Sitosterolemia Metabolism Active, not recruiting NCT01584206 Ezetimibe
13 Effects of Fish Oil and Colesevelam Not yet recruiting NCT01948648 Colesevelam;Combination of fish oil and colesevelam

Search NIH Clinical Center for Sitosterolemia

Cochrane evidence based reviews: sitosterolemia

Genetic Tests for Sitosterolemia

Genetic tests related to Sitosterolemia:

id Genetic test Affiliating Genes
1 Sitosterolemia 29 24 ABCG8 ABCG5

Anatomical Context for Sitosterolemia

MalaCards organs/tissues related to Sitosterolemia:

39
Heart, Skin, Liver, Monocytes, Thyroid, Spinal Cord

Publications for Sitosterolemia

Articles related to Sitosterolemia:

(show top 50) (show all 93)
id Title Authors Year
1
Effect of ezetimibe on low- and high-density lipoprotein subclasses in sitosterolemia. ( 28340366 )
2017
2
Sitosterolemia: A multifaceted metabolic disorder with important clinical consequences. ( 28545928 )
2017
3
Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia. ( 28696550 )
2017
4
Antiatherogenic potential of ezetimibe in sitosterolemia: Beyond plant sterols lowering. ( 28365445 )
2017
5
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia. ( 28521186 )
2017
6
A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe. ( 28203044 )
2017
7
Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene. ( 28771437 )
2017
8
Thyroid Hormone Status in Sitosterolemia Is Modified by Ezetimibe. ( 28625503 )
2017
9
A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing. ( 27170062 )
2016
10
Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management. ( 27104173 )
2016
11
Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia. ( 27401767 )
2016
12
Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia. ( 27231115 )
2016
13
Two novel mutations in the ABCG5 gene, c.144 -1G>A and c.1523 delC, in a Mexican family with sitosterolemia. ( 26892138 )
2016
14
Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia. ( 25444527 )
2015
15
Hepatic or intestinal ABCG5 and ABCG8 are sufficient to block the development of sitosterolemia. ( 25527605 )
2015
16
Plant Sterols, Stanols, and Sitosterolemia. ( 25941971 )
2015
17
An unusual occurrence of hepatic granulomas and secondary sitosterolemia in turner syndrome. ( 25705228 )
2015
18
Sitosterolemia: diagnosis, investigation, and management. ( 24821603 )
2014
19
Sitosterolemia: a new mutation in a Mediterranean patient. ( 25110228 )
2014
20
Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. ( 24423340 )
2014
21
Ezetimibe treatment should be considered for patients with sitosterolemia. ( 24839218 )
2014
22
Non-cholesterol sterols and cholesterol metabolism in sitosterolemia. ( 24267242 )
2013
23
Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia. ( 23926302 )
2013
24
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. ( 24166850 )
2013
25
Sitosterolemia: platelets on high-sterol diet. ( 24113795 )
2013
26
Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism. ( 20543520 )
2010
27
Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children. ( 20521169 )
2010
28
The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia. ( 19846887 )
2010
29
Genetic inactivation of NPC1L1 protects against sitosterolemia in mice lacking ABCG5/ABCG8. ( 18796403 )
2009
30
Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia. ( 18156627 )
2008
31
Long-term efficacy and safety of ezetimibe 10 mg in patients with homozygous sitosterolemia: a 2-year, open-label extension study. ( 18822021 )
2008
32
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
33
A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans. ( 16507104 )
2006
34
Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities. ( 17018391 )
2006
35
Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis. ( 16697747 )
2006
36
Liver transplantation in a patient with sitosterolemia and cirrhosis. ( 16472606 )
2006
37
Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues. ( 16331855 )
2005
38
A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol. ( 15040800 )
2004
39
Sitosterolemia in ABC-transporter G5-deficient mice is aggravated on activation of the liver-X receptor. ( 14699507 )
2004
40
Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia. ( 14769702 )
2004
41
Sitosterolemia--a rare disease. Are elevated plant sterols an additional risk factor? ( 15599566 )
2004
42
Phenotypic heterogeneity of sitosterolemia. ( 15375183 )
2004
43
A 19-year-old man with myocardial infarction and sitosterolemia. ( 12879952 )
2003
44
Sitosterolemia: a gateway to new knowledge about cholesterol metabolism. ( 14649332 )
2003
45
Novel donor splice site mutation of ABCG5 gene in sitosterolemia. ( 11855938 )
2002
46
Sitosterolemia. ( 12481199 )
2002
47
Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia. ( 12124998 )
2002
48
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
49
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
50
Macrophage 3-hydroxy-3-methylglutaryl coenzyme a reductase activity in sitosterolemia: effects of increased cellular cholesterol and sitosterol concentrations. ( 11586498 )
2001

Variations for Sitosterolemia

UniProtKB/Swiss-Prot genetic disease variations for Sitosterolemia:

71 (show all 16)
id Symbol AA change Variation ID SNP ID
1 ABCG5 p.Glu146Gln VAR_012244 rs758551848
2 ABCG5 p.Arg389His VAR_012245 rs119480069
3 ABCG5 p.Arg419His VAR_012246 rs119479067
4 ABCG5 p.Arg419Pro VAR_012247 rs119479067
5 ABCG5 p.Arg550Ser VAR_012248
6 ABCG5 p.Asn437Lys VAR_020781 rs575266356
7 ABCG8 p.Arg184His VAR_012252 rs766212636
8 ABCG8 p.Pro231Thr VAR_012253 rs137852993
9 ABCG8 p.Arg263Gln VAR_012256 rs137852990
10 ABCG8 p.Arg405His VAR_012258
11 ABCG8 p.Leu501Pro VAR_012259
12 ABCG8 p.Arg543Ser VAR_012260 rs201690654
13 ABCG8 p.Leu572Pro VAR_012262 rs769576789
14 ABCG8 p.Gly574Glu VAR_012263
15 ABCG8 p.Gly574Arg VAR_012264 rs137852988
16 ABCG8 p.Leu596Arg VAR_012266 rs137852992

ClinVar genetic disease variations for Sitosterolemia:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 ABCG8 NM_022437.2(ABCG8): c.1083G> A (p.Trp361Ter) single nucleotide variant Pathogenic rs137852987 GRCh37 Chromosome 2, 44099233: 44099233
2 ABCG8 NM_022437.2(ABCG8): c.1720G> A (p.Gly574Arg) single nucleotide variant Pathogenic/Likely pathogenic rs137852988 GRCh37 Chromosome 2, 44102516: 44102516
3 ABCG8 NM_022437.2(ABCG8): c.1974C> G (p.Tyr658Ter) single nucleotide variant Pathogenic rs137852989 GRCh37 Chromosome 2, 44105004: 44105004
4 ABCG8 NM_022437.2(ABCG8): c.788G> A (p.Arg263Gln) single nucleotide variant Pathogenic rs137852990 GRCh37 Chromosome 2, 44079831: 44079831
5 ABCG8 NM_022437.2(ABCG8): c.547delC (p.Gln183Serfs) deletion Pathogenic rs387906323 GRCh37 Chromosome 2, 44078947: 44078947
6 ABCG8 NM_022437.2(ABCG8): c.1234C> T (p.Arg412Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137852991 GRCh37 Chromosome 2, 44100948: 44100948
7 ABCG8 NM_022437.2(ABCG8): c.1787T> G (p.Leu596Arg) single nucleotide variant Pathogenic rs137852992 GRCh37 Chromosome 2, 44104730: 44104730
8 ABCG8 NM_022437.2(ABCG8): c.691C> A (p.Pro231Thr) single nucleotide variant Pathogenic rs137852993 GRCh37 Chromosome 2, 44079622: 44079622
9 ABCG5 NM_022436.2(ABCG5): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs119479065 GRCh37 Chromosome 2, 44051154: 44051154
10 ABCG5 NM_022436.2(ABCG5): c.727C> T (p.Arg243Ter) single nucleotide variant Pathogenic rs119479066 GRCh37 Chromosome 2, 44053568: 44053568
11 ABCG5 NM_022436.2(ABCG5): c.1256G> A (p.Arg419His) single nucleotide variant Pathogenic rs119479067 GRCh37 Chromosome 2, 44051120: 44051120
12 ABCG5 NM_022436.2(ABCG5): c.1256G> C (p.Arg419Pro) single nucleotide variant Pathogenic rs119479067 GRCh37 Chromosome 2, 44051120: 44051120
13 ABCG5 NM_022436.2(ABCG5): c.1166G> A (p.Arg389His) single nucleotide variant Pathogenic rs119480069 GRCh37 Chromosome 2, 44051210: 44051210
14 ABCG5 NM_022436.2(ABCG5): c.229G> T (p.Glu77Ter) single nucleotide variant Pathogenic rs119480070 GRCh37 Chromosome 2, 44065009: 44065009
15 ABCG5 NM_022436.2(ABCG5): c.46C> T (p.Gln16Ter) single nucleotide variant Pathogenic rs387906912 GRCh37 Chromosome 2, 44065773: 44065773
16 ABCG5 NM_022436.2(ABCG5): c.1336C> T (p.Arg446Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199689137 GRCh37 Chromosome 2, 44050063: 44050063
17 ABCG8 NM_022437.2(ABCG8): c.320C> G (p.Ser107Ter) single nucleotide variant Pathogenic rs137854891 GRCh37 Chromosome 2, 44073448: 44073448
18 ABCG5 NM_022436.2(ABCG5): c.978delA (p.Glu326Aspfs) deletion Likely pathogenic rs869025350 GRCh38 Chromosome 2, 43824359: 43824359

Expression for Sitosterolemia

Search GEO for disease gene expression data for Sitosterolemia.

Pathways for Sitosterolemia

Pathways related to Sitosterolemia according to GeneCards Suite gene sharing:

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.63 ABCG1 ABCG5 ABCG8 ACAT1 APOB CYP27A1
2
Show member pathways
12.53 ACAT1 CYP7A1 FDFT1 HMGCR
3
Show member pathways
12.17 ABCG1 ABCG5 ABCG8 APOB MTTP SOAT1
4
Show member pathways
12.15 ABCG5 ABCG8 CYP7A1
5
Show member pathways
11.63 ACAT1 FDFT1 HMGCR
6 11.47 ABCG5 ABCG8 CYP7A1 HMGCR
7 11.12 ABCG5 ABCG8
8 11.09 ABCG1 ABCG5 CYP7A1
9
Show member pathways
11.06 ABCG5 ABCG8 APOB CYP7A1 FDFT1 HMGCR
10
Show member pathways
10.9 FDFT1 HMGCR
11
Show member pathways
10.9 ABCG5 ABCG8 APOB MTTP

GO Terms for Sitosterolemia

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

id Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.62 APOB CYP7A1 FDFT1 HMGCR
2 receptor complex GO:0043235 9.43 ABCG5 ABCG8 MTTP
3 endoplasmic reticulum membrane GO:0005789 9.43 ABCG1 APOB CYP7A1 FDFT1 HMGCR SOAT1
4 endoplasmic reticulum GO:0005783 9.17 ABCG1 APOB CYP7A1 FDFT1 HMGCR MTTP
5 ATP-binding cassette (ABC) transporter complex GO:0043190 9.16 ABCG5 ABCG8

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

(show all 28)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.94 CYP27A1 CYP7A1 FDFT1 HMGCR
2 lipid metabolic process GO:0006629 9.85 APOB CYP7A1 FDFT1 HMGCR MTTP SOAT1
3 lipid transport GO:0006869 9.74 ABCG1 APOB MTTP
4 regulation of lipid metabolic process GO:0019216 9.7 CYP7A1 FDFT1 HMGCR
5 response to nutrient GO:0007584 9.67 ABCG5 ABCG8 HMGCR
6 steroid metabolic process GO:0008202 9.65 APOB CYP7A1 FDFT1 HMGCR SOAT1
7 phospholipid transport GO:0015914 9.63 ABCG8 MTTP
8 cholesterol biosynthetic process GO:0006695 9.63 FDFT1 HMGCR
9 regulation of cholesterol biosynthetic process GO:0045540 9.63 APOB FDFT1 HMGCR
10 cholesterol metabolic process GO:0008203 9.63 ABCG1 APOB CYP7A1 FDFT1 HMGCR SOAT1
11 excretion GO:0007588 9.62 ABCG5 ABCG8
12 sterol biosynthetic process GO:0016126 9.62 FDFT1 HMGCR
13 bile acid biosynthetic process GO:0006699 9.61 CYP27A1 CYP7A1
14 low-density lipoprotein particle clearance GO:0034383 9.61 APOB SOAT1
15 cholesterol transport GO:0030301 9.6 ABCG1 APOB
16 lipoprotein metabolic process GO:0042157 9.59 APOB MTTP
17 sterol metabolic process GO:0016125 9.58 CYP27A1 CYP7A1
18 lipoprotein transport GO:0042953 9.58 APOB MTTP
19 isoprenoid biosynthetic process GO:0008299 9.56 FDFT1 HMGCR
20 low-density lipoprotein particle remodeling GO:0034374 9.55 ABCG1 APOB
21 chylomicron assembly GO:0034378 9.54 APOB MTTP
22 intestinal cholesterol absorption GO:0030299 9.51 ABCG5 ABCG8
23 very-low-density lipoprotein particle assembly GO:0034379 9.5 APOB MTTP SOAT1
24 coenzyme A metabolic process GO:0015936 9.48 ACAT1 HMGCR
25 negative regulation of intestinal cholesterol absorption GO:0045796 9.43 ABCG5 ABCG8
26 negative regulation of intestinal phytosterol absorption GO:0010949 9.4 ABCG5 ABCG8
27 cholesterol efflux GO:0033344 9.35 ABCG1 ABCG5 ABCG8 APOB SOAT1
28 cholesterol homeostasis GO:0042632 9.17 ABCG1 ABCG5 ABCG8 APOB CYP7A1 MTTP

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.71 CYP27A1 CYP7A1 FDFT1 HMGCR
2 protein heterodimerization activity GO:0046982 9.62 ABCG1 ABCG5 ABCG8 MTTP
3 ATPase activity GO:0016887 9.54 ABCG1 ABCG5 ABCG8
4 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.46 ABCG5 ABCG8
5 cholesterol binding GO:0015485 9.43 ABCG1 SOAT1
6 lipid transporter activity GO:0005319 9.26 APOB MTTP
7 phospholipid transporter activity GO:0005548 9.16 ABCG1 MTTP
8 coenzyme binding GO:0050662 8.96 ACAT1 HMGCR
9 cholesterol transporter activity GO:0017127 8.92 ABCG1 ABCG5 ABCG8 APOB

Sources for Sitosterolemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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