STSL
MCID: STS003
MIFTS: 55

Sitosterolemia (STSL) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Sitosterolemia

Aliases & Descriptions for Sitosterolemia:

Name: Sitosterolemia 54 23 50 24 25 66 29 13 52 69
Phytosterolemia 23 50 24 25 66
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 66
Phytosterolæmia 23
Sitosterolæmia 23
Stsl 66

Characteristics:

HPO:

32
sitosterolemia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 210250

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 xanthomatosis, and has symptoms including arthralgia, abdominal pain and arthritis. 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 Gamma-sitosterol 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

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... (210250) more...

UniProtKB/Swiss-Prot : 66 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.

Wikipedia : 71 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 by clinical synopsis from OMIM:

210250

Clinical features from OMIM:

210250

Human phenotypes related to Sitosterolemia:

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

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 HMGCR MTTP SOAT1 ABCG1 ABCG5 ABCG8

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 Gamma-sitosterol Phase 3,Phase 2
3 Hypolipidemic Agents Phase 3,Phase 2
4 Anticholesteremic Agents Phase 3,Phase 2
5 Lipid Regulating Agents Phase 3,Phase 2
6 Antimetabolites 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
1 An Investigational Drug Study to Lower Non-Cholesterol Sterol Levels Associated With Sitosterolemia (0653-062)(COMPLETED) Completed NCT00092898 Phase 3
2 Sitosterolemia Extension Study (0653-003)(COMPLETED) Completed NCT00092807 Phase 3
3 Sitosterolemia Extension Study (0653-004)(COMPLETED) Completed NCT00092820 Phase 3
4 Higher-Dose Ezetimibe to Treat Homozygous Sitosterolemia Completed NCT00099996 Phase 3
5 Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED) Terminated NCT00092833 Phase 3
6 SCH-58235 (Ezetimibe) to Treat Homozygous Sitosterolemia Completed NCT00045812 Phase 2
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
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
12 Sitosterolemia Metabolism Active, not recruiting NCT01584206
13 Effects of Fish Oil and Colesevelam Not yet recruiting NCT01948648

Search NIH Clinical Center for 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, Spinal Cord

Publications for Sitosterolemia

Articles related to Sitosterolemia:

(show top 50) (show all 89)
id Title Authors Year
1
Effect of ezetimibe on low- and high-density lipoprotein subclasses in sitosterolemia. ( 28340366 )
2017
2
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia. ( 28521186 )
2017
3
A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe. ( 28203044 )
2017
4
Antiatherogenic potential of ezetimibe in sitosterolemia: Beyond plant sterols lowering. ( 28365445 )
2017
5
Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia. ( 27231115 )
2016
6
A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing. ( 27170062 )
2016
7
Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management. ( 27104173 )
2016
8
Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia. ( 27401767 )
2016
9
Two novel mutations in the ABCG5 gene, c.144 -1G>A and c.1523 delC, in a Mexican family with sitosterolemia. ( 26892138 )
2016
10
Hepatic or intestinal ABCG5 and ABCG8 are sufficient to block the development of sitosterolemia. ( 25527605 )
2015
11
Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia. ( 25444527 )
2015
12
Plant Sterols, Stanols, and Sitosterolemia. ( 25941971 )
2015
13
An unusual occurrence of hepatic granulomas and secondary sitosterolemia in turner syndrome. ( 25705228 )
2015
14
Sitosterolemia: a new mutation in a Mediterranean patient. ( 25110228 )
2014
15
Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. ( 24423340 )
2014
16
Sitosterolemia: diagnosis, investigation, and management. ( 24821603 )
2014
17
Ezetimibe treatment should be considered for patients with sitosterolemia. ( 24839218 )
2014
18
Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia. ( 23926302 )
2013
19
Non-cholesterol sterols and cholesterol metabolism in sitosterolemia. ( 24267242 )
2013
20
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. ( 24166850 )
2013
21
Sitosterolemia: platelets on high-sterol diet. ( 24113795 )
2013
22
Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children. ( 20521169 )
2010
23
The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia. ( 19846887 )
2010
24
Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism. ( 20543520 )
2010
25
Genetic inactivation of NPC1L1 protects against sitosterolemia in mice lacking ABCG5/ABCG8. ( 18796403 )
2009
26
Long-term efficacy and safety of ezetimibe 10 mg in patients with homozygous sitosterolemia: a 2-year, open-label extension study. ( 18822021 )
2008
27
Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia. ( 18156627 )
2008
28
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
29
Liver transplantation in a patient with sitosterolemia and cirrhosis. ( 16472606 )
2006
30
Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis. ( 16697747 )
2006
31
A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans. ( 16507104 )
2006
32
Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities. ( 17018391 )
2006
33
Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues. ( 16331855 )
2005
34
Phenotypic heterogeneity of sitosterolemia. ( 15375183 )
2004
35
Sitosterolemia--a rare disease. Are elevated plant sterols an additional risk factor? ( 15599566 )
2004
36
A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol. ( 15040800 )
2004
37
Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia. ( 14769702 )
2004
38
Sitosterolemia in ABC-transporter G5-deficient mice is aggravated on activation of the liver-X receptor. ( 14699507 )
2004
39
A 19-year-old man with myocardial infarction and sitosterolemia. ( 12879952 )
2003
40
Sitosterolemia: a gateway to new knowledge about cholesterol metabolism. ( 14649332 )
2003
41
Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia. ( 12124998 )
2002
42
Novel donor splice site mutation of ABCG5 gene in sitosterolemia. ( 11855938 )
2002
43
Sitosterolemia. ( 12481199 )
2002
44
Macrophage 3-hydroxy-3-methylglutaryl coenzyme a reductase activity in sitosterolemia: effects of increased cellular cholesterol and sitosterol concentrations. ( 11586498 )
2001
45
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
46
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. ( 11668628 )
2001
47
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
48
Genetic basis of sitosterolemia. ( 11264985 )
2001
49
Tuberous xanthomas in sitosterolemia. ( 11123775 )
2000
50
Sitosterolemia in the Pediatric Population ( 27809447 )
2000

Variations for Sitosterolemia

UniProtKB/Swiss-Prot genetic disease variations for Sitosterolemia:

66 (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:

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
11.63 ACAT1 FDFT1 HMGCR
5 11.47 ABCG5 ABCG8 CYP7A1 HMGCR
6 11.12 ABCG5 ABCG8
7 11.09 ABCG1 ABCG5 CYP7A1
8
Show member pathways
11.06 ABCG5 ABCG8 APOB CYP7A1 FDFT1 HMGCR
9
Show member pathways
10.9 FDFT1 HMGCR
10
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 30)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.95 CYP27A1 CYP7A1 FDFT1 HMGCR
2 lipid metabolic process GO:0006629 9.85 APOB CYP7A1 FDFT1 HMGCR MTTP SOAT1
3 lipid transport GO:0006869 9.77 ABCG1 APOB MTTP
4 regulation of lipid metabolic process GO:0019216 9.71 CYP7A1 FDFT1 HMGCR
5 response to nutrient GO:0007584 9.69 ABCG5 ABCG8 HMGCR
6 lipoprotein metabolic process GO:0042157 9.67 ABCG1 APOB MTTP
7 steroid metabolic process GO:0008202 9.65 APOB CYP7A1 FDFT1 HMGCR SOAT1
8 phospholipid transport GO:0015914 9.64 ABCG8 MTTP
9 cholesterol biosynthetic process GO:0006695 9.64 FDFT1 HMGCR
10 excretion GO:0007588 9.63 ABCG5 ABCG8
11 sterol biosynthetic process GO:0016126 9.63 FDFT1 HMGCR
12 regulation of cholesterol biosynthetic process GO:0045540 9.63 APOB FDFT1 HMGCR
13 cholesterol metabolic process GO:0008203 9.63 ABCG1 APOB CYP7A1 FDFT1 HMGCR SOAT1
14 bile acid biosynthetic process GO:0006699 9.62 CYP27A1 CYP7A1
15 low-density lipoprotein particle clearance GO:0034383 9.62 APOB SOAT1
16 cholesterol transport GO:0030301 9.61 ABCG1 APOB
17 sterol metabolic process GO:0016125 9.61 CYP27A1 CYP7A1
18 isoprenoid biosynthetic process GO:0008299 9.59 FDFT1 HMGCR
19 lipoprotein transport GO:0042953 9.58 APOB MTTP
20 low-density lipoprotein particle remodeling GO:0034374 9.58 ABCG1 APOB
21 sterol transport GO:0015918 9.57 ABCG5 ABCG8
22 lipoprotein biosynthetic process GO:0042158 9.56 APOB MTTP
23 chylomicron assembly GO:0034378 9.55 APOB MTTP
24 intestinal cholesterol absorption GO:0030299 9.52 ABCG5 ABCG8
25 very-low-density lipoprotein particle assembly GO:0034379 9.5 APOB MTTP SOAT1
26 coenzyme A metabolic process GO:0015936 9.48 ACAT1 HMGCR
27 negative regulation of intestinal cholesterol absorption GO:0045796 9.43 ABCG5 ABCG8
28 negative regulation of intestinal phytosterol absorption GO:0010949 9.4 ABCG5 ABCG8
29 cholesterol efflux GO:0033344 9.35 ABCG1 ABCG5 ABCG8 APOB SOAT1
30 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....