MCID: STS003
MIFTS: 58

Sitosterolemia

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Sitosterolemia

MalaCards integrated aliases for Sitosterolemia:

Name: Sitosterolemia 53 12 72 23 49 24 71 36 28 13 51 41 14 69
Phytosterolemia 53 12 23 49 24 71
Plant Sterol Storage Disease 49 24
Beta-Sitosterolemia 23 24
Stsl 53 71
Retention of Dietary Cholesterol and Abnormal Retention of Non-Cholesterol Sterols in the Body 49
Sitosterolemia with Xanthomatosis 69
Shellfish Sterolemia 71
Phytosterolaemia 24
Phytosterolæmia 23
Sitosterolaemia 24
Sitosterolæmia 23

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
sitosterolemia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sitosterolemia

NIH Rare Diseases : 49 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 ABC transporters and Metabolism. The drugs Ezetimibe and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and liver, and related phenotypes are Decreased free cholesterol and homeostasis/metabolism

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.

Genetics Home Reference : 24 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 : 53 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)

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.

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:

53
Abdomen:
abdominal pain

Abdomen Spleen:
splenomegaly

Cardiovascular Vascular:
atherosclerosis
coronary atherosclerosis

Muscle Soft Tissue:
tendinous and tuberous xanthoma

Skeletal Limbs:
arthritis
joint arthralgia

Hematology:
chronic hemolytic anemia
reticulocytosis
stomatocytosis
giant platelets
episodic hemolysis
more
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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 arthralgia 31 HP:0002829
2 abdominal pain 31 HP:0002027
3 arthritis 31 HP:0001369
4 splenomegaly 31 HP:0001744
5 abnormal bleeding 31 HP:0001892
6 chronic hemolytic anemia 31 HP:0004870
7 reticulocytosis 31 HP:0001923
8 hypercholesterolemia 31 HP:0003124
9 abnormality of the liver 31 HP:0001392
10 episodic hemolytic anemia 31 HP:0004802
11 stomatocytosis 31 HP:0004446
12 giant platelets 31 HP:0001902
13 impaired platelet aggregation 31 HP:0003540
14 hyperapobetalipoproteinemia 31 HP:0008158
15 coronary artery atherosclerosis 31 HP:0001677
16 abnormality of the integument 31 HP:0001574

UMLS symptoms related to Sitosterolemia:


abdominal pain

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

25
# 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.61 MTTP SOAT1 ABCG1 ABCG5 ABCG8 APOB
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)
# 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 Hypolipidemic Agents Phase 3,Phase 2
4 Antimetabolites 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)

# 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 Sitosterolemia Metabolism Unknown status NCT01584206 Ezetimibe
9 Genetic Study of Sitosterolemia Completed NCT00004481
10 The Effect of Dietary Sitosterol on Blood Sugar and Cholesterol Completed NCT00531128
11 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)
12 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)
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:

# Genetic test Affiliating Genes
1 Sitosterolemia 28 ABCG5 ABCG8

Anatomical Context for Sitosterolemia

MalaCards organs/tissues related to Sitosterolemia:

38
Skin, Heart, Liver, Testes, Spinal Cord, Monocytes, Thyroid

Publications for Sitosterolemia

Articles related to Sitosterolemia:

(show top 50) (show all 99)
# Title Authors Year
1
The association between hypercholesterolemia and sitosterolemia, and report of a sitosterolemia kindred. ( 29169939 )
2018
2
Acute myocardial infarction in a 25-year-old woman with sitosterolemia. ( 29174072 )
2018
3
A case of sitosterolemia misdiagnosed as familial hypercholesterolemia: A 4-year follow-up. ( 29246730 )
2018
4
Oral Fat Tolerance Test for Sitosterolemia and Familial Hypercholesterolemia: A Study Protocol. ( 29353827 )
2018
5
Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene. ( 28771437 )
2017
6
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia. ( 28521186 )
2017
7
Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed. ( 29055934 )
2017
8
Thyroid Hormone Status in Sitosterolemia Is Modified by Ezetimibe. ( 28625503 )
2017
9
Effect of ezetimibe on low- and high-density lipoprotein subclasses in sitosterolemia. ( 28340366 )
2017
10
Antiatherogenic potential of ezetimibe in sitosterolemia: Beyond plant sterols lowering. ( 28365445 )
2017
11
Lipoprotein Apheresis for Sitosterolemia. ( 29049823 )
2017
12
Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia. ( 28696550 )
2017
13
Sitosterolemia: A multifaceted metabolic disorder with important clinical consequences. ( 28545928 )
2017
14
A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe. ( 28203044 )
2017
15
Two novel mutations in the ABCG5 gene, c.144 -1G>A and c.1523 delC, in a Mexican family with sitosterolemia. ( 26892138 )
2016
16
Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia. ( 27231115 )
2016
17
Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia. ( 27401767 )
2016
18
A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing. ( 27170062 )
2016
19
Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management. ( 27104173 )
2016
20
Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia. ( 25444527 )
2015
21
Hepatic or intestinal ABCG5 and ABCG8 are sufficient to block the development of sitosterolemia. ( 25527605 )
2015
22
An unusual occurrence of hepatic granulomas and secondary sitosterolemia in turner syndrome. ( 25705228 )
2015
23
Plant Sterols, Stanols, and Sitosterolemia. ( 25941971 )
2015
24
Sitosterolemia: diagnosis, investigation, and management. ( 24821603 )
2014
25
Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. ( 24423340 )
2014
26
Ezetimibe treatment should be considered for patients with sitosterolemia. ( 24839218 )
2014
27
Sitosterolemia: a new mutation in a Mediterranean patient. ( 25110228 )
2014
28
Sitosterolemia: platelets on high-sterol diet. ( 24113795 )
2013
29
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. ( 24166850 )
2013
30
Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia. ( 23926302 )
2013
31
Non-cholesterol sterols and cholesterol metabolism in sitosterolemia. ( 24267242 )
2013
32
Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism. ( 20543520 )
2010
33
Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children. ( 20521169 )
2010
34
The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia. ( 19846887 )
2010
35
Genetic inactivation of NPC1L1 protects against sitosterolemia in mice lacking ABCG5/ABCG8. ( 18796403 )
2009
36
Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia. ( 18156627 )
2008
37
Long-term efficacy and safety of ezetimibe 10 mg in patients with homozygous sitosterolemia: a 2-year, open-label extension study. ( 18822021 )
2008
38
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
39
A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans. ( 16507104 )
2006
40
Liver transplantation in a patient with sitosterolemia and cirrhosis. ( 16472606 )
2006
41
Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis. ( 16697747 )
2006
42
Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities. ( 17018391 )
2006
43
Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues. ( 16331855 )
2005
44
Sitosterolemia in ABC-transporter G5-deficient mice is aggravated on activation of the liver-X receptor. ( 14699507 )
2004
45
Sitosterolemia--a rare disease. Are elevated plant sterols an additional risk factor? ( 15599566 )
2004
46
Phenotypic heterogeneity of sitosterolemia. ( 15375183 )
2004
47
A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol. ( 15040800 )
2004
48
Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia. ( 14769702 )
2004
49
Sitosterolemia: a gateway to new knowledge about cholesterol metabolism. ( 14649332 )
2003
50
A 19-year-old man with myocardial infarction and sitosterolemia. ( 12879952 )
2003

Variations for Sitosterolemia

UniProtKB/Swiss-Prot genetic disease variations for Sitosterolemia:

71 (show all 16)
# 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)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCG5 NM_022436.2(ABCG5): c.46C> T (p.Gln16Ter) single nucleotide variant Pathogenic rs387906912 GRCh38 Chromosome 2, 43838634: 43838634
2 ABCG5 NM_022436.2(ABCG5): c.1336C> T (p.Arg446Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199689137 GRCh37 Chromosome 2, 44050063: 44050063
3 ABCG8 NM_022437.2(ABCG8): c.320C> G (p.Ser107Ter) single nucleotide variant Pathogenic rs137854891 GRCh37 Chromosome 2, 44073448: 44073448
4 ABCG8 NM_022437.2(ABCG8): c.1974C> G (p.Tyr658Ter) single nucleotide variant Pathogenic rs137852989 GRCh38 Chromosome 2, 43877865: 43877865
5 ABCG8 NM_022437.2(ABCG8): c.1083G> A (p.Trp361Ter) single nucleotide variant Pathogenic rs137852987 GRCh37 Chromosome 2, 44099233: 44099233
6 ABCG8 NM_022437.2(ABCG8): c.1720G> A (p.Gly574Arg) single nucleotide variant Pathogenic/Likely pathogenic rs137852988 GRCh37 Chromosome 2, 44102516: 44102516
7 ABCG8 NM_022437.2(ABCG8): c.788G> A (p.Arg263Gln) single nucleotide variant Pathogenic rs137852990 GRCh37 Chromosome 2, 44079831: 44079831
8 ABCG8 NM_022437.2(ABCG8): c.547delC (p.Gln183Serfs) deletion Pathogenic rs387906323 GRCh37 Chromosome 2, 44078947: 44078947
9 ABCG8 NM_022437.2(ABCG8): c.1234C> T (p.Arg412Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137852991 GRCh37 Chromosome 2, 44100948: 44100948
10 ABCG8 NM_022437.2(ABCG8): c.1787T> G (p.Leu596Arg) single nucleotide variant Pathogenic rs137852992 GRCh37 Chromosome 2, 44104730: 44104730
11 ABCG8 NM_022437.2(ABCG8): c.691C> A (p.Pro231Thr) single nucleotide variant Pathogenic rs137852993 GRCh37 Chromosome 2, 44079622: 44079622
12 ABCG5 NM_022436.2(ABCG5): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs119479065 GRCh37 Chromosome 2, 44051154: 44051154
13 ABCG5 NM_022436.2(ABCG5): c.727C> T (p.Arg243Ter) single nucleotide variant Pathogenic rs119479066 GRCh37 Chromosome 2, 44053568: 44053568
14 ABCG5 NM_022436.2(ABCG5): c.1256G> A (p.Arg419His) single nucleotide variant Pathogenic rs119479067 GRCh37 Chromosome 2, 44051120: 44051120
15 ABCG5 NM_022436.2(ABCG5): c.1256G> C (p.Arg419Pro) single nucleotide variant Pathogenic rs119479067 GRCh37 Chromosome 2, 44051120: 44051120
16 ABCG5 NM_022436.2(ABCG5): c.1166G> A (p.Arg389His) single nucleotide variant Pathogenic rs119480069 GRCh37 Chromosome 2, 44051210: 44051210
17 ABCG5 NM_022436.2(ABCG5): c.229G> T (p.Glu77Ter) single nucleotide variant Pathogenic rs119480070 GRCh37 Chromosome 2, 44065009: 44065009
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 KEGG:

36
# Name Kegg Source Accession
1 ABC transporters hsa02010

Pathways related to Sitosterolemia according to GeneCards Suite gene sharing:

(show all 11)
# 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
Show member pathways
11.35 ABCG5 ABCG8 APOB CYP27A1 CYP7A1 FDFT1
8 11.12 ABCG5 ABCG8
9 11.09 ABCG1 ABCG5 CYP7A1
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:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 9.43 ABCG5 ABCG8 MTTP
2 endoplasmic reticulum membrane GO:0005789 9.43 ABCG1 APOB CYP7A1 FDFT1 HMGCR SOAT1
3 endoplasmic reticulum GO:0005783 9.17 ABCG1 APOB CYP7A1 FDFT1 HMGCR MTTP
4 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)
# 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 9.75 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 cholesterol transport GO:0030301 9.61 ABCG1 APOB
15 lipoprotein metabolic process GO:0042157 9.6 APOB MTTP
16 sterol metabolic process GO:0016125 9.59 CYP27A1 CYP7A1
17 low-density lipoprotein particle clearance GO:0034383 9.58 APOB SOAT1
18 lipoprotein transport GO:0042953 9.57 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:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.67 CYP27A1 CYP7A1 FDFT1 HMGCR
2 ATPase activity GO:0016887 9.58 ABCG1 ABCG5 ABCG8
3 protein heterodimerization activity GO:0046982 9.56 ABCG1 ABCG5 ABCG8 MTTP
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 9.32 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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