STSL
MCID: STS003
MIFTS: 57

Sitosterolemia (STSL)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Sitosterolemia

MalaCards integrated aliases for Sitosterolemia:

Name: Sitosterolemia 58 12 77 25 54 26 76 38 30 13 56 6 45 15 41 74
Phytosterolemia 58 12 25 54 26 76
Plant Sterol Storage Disease 54 26
Beta-Sitosterolemia 25 26
Stsl 58 76
Retention of Dietary Cholesterol and Abnormal Retention of Non-Cholesterol Sterols in the Body 54
Sitosterolemia with Xanthomatosis 74
Shellfish Sterolemia 76
Phytosterolaemia 26
Phytosterolæmia 25
Sitosterolaemia 26
Sitosterolæmia 25

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
sitosterolemia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sitosterolemia

NIH Rare Diseases : 54 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.

MalaCards based summary : Sitosterolemia, also known as phytosterolemia, is related to cerebrotendinous xanthomatosis and xanthomatosis, and has symptoms including abdominal pain An important gene associated with Sitosterolemia is ABCG8 (ATP Binding Cassette Subfamily G Member 8), 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 testes, and related phenotypes are arthritis and splenomegaly

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 : 26 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 : 58 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 : 76 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 : 77 Sitosterolemia is a rare autosomal recessively inherited lipid metabolic disorder. It is characterized... more...

GeneReviews: NBK131810

Related Diseases for Sitosterolemia

Diseases related to Sitosterolemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 cerebrotendinous xanthomatosis 31.8 CYP27A1 CYP7A1 HMGCR
2 xanthomatosis 30.2 APOB CYP27A1 CYP7A1 HMGCR
3 hypercholesterolemia, familial 29.0 ABCG5 ABCG8 APOB CYP7A1 HMGCR MTTP
4 gallbladder disease 4 10.3 ABCG5 ABCG8
5 short-rib thoracic dysplasia 15 with polydactyly 10.3 ABCG5 DYNC2LI1
6 aortic atherosclerosis 10.2 ABCG5 ABCG8
7 cholestasis, progressive familial intrahepatic, 1 10.2 ABCG5 ABCG8
8 liver disease 10.2
9 defective apolipoprotein b-100 10.2 APOB HMGCR
10 hyperlipoproteinemia, type v 10.2 APOB HMGCR
11 cholestasis, benign recurrent intrahepatic, 1 10.2 ABCG5 ABCG8
12 myocardial infarction 10.1
13 thrombocytopenia 10.1
14 gallbladder disease 10.1 ABCG5 ABCG8 APOB
15 hypobetalipoproteinemia, familial, 1 10.1 APOB MTTP
16 cholelithiasis 10.1 ABCG5 ABCG8 CYP7A1
17 hyperlipoproteinemia, type iii 10.1 APOB HMGCR
18 atherosclerosis susceptibility 10.1
19 smith-lemli-opitz syndrome 10.1
20 opitz gbbb syndrome, type i 10.1
21 hypolipoproteinemia 10.1 APOB MTTP
22 chylomicron retention disease 10.1 APOB MTTP
23 biliary cirrhosis, primary, 1 10.0
24 primary biliary cirrhosis 10.0
25 primary biliary cholangitis 10.0
26 arteries, anomalies of 10.0
27 familial mediterranean fever 10.0
28 aortic valve disease 2 10.0
29 deficiency anemia 10.0
30 acute myocardial infarction 10.0
31 coronary artery anomaly 10.0
32 hemolytic anemia 10.0
33 liver cirrhosis 10.0
34 turner syndrome 10.0
35 paraplegia 10.0
36 lipid storage disease 10.0
37 cryptogenic cirrhosis 10.0
38 lecithin:cholesterol acyltransferase deficiency 9.9 APOB NPC1L1
39 abetalipoproteinemia 9.9 APOB MTTP
40 lipid metabolism disorder 9.9 APOB HMGCR MTTP
41 tangier disease 9.8 ABCG1 APOB
42 homozygous familial hypercholesterolemia 9.6 ABCG5 ABCG8 APOB HMGCR MTTP

Graphical network of the top 20 diseases related to Sitosterolemia:



Diseases related to Sitosterolemia

Symptoms & Phenotypes for Sitosterolemia

Human phenotypes related to Sitosterolemia:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 arthritis 33 HP:0001369
2 splenomegaly 33 HP:0001744
3 arthralgia 33 HP:0002829
4 abnormal bleeding 33 HP:0001892
5 abdominal pain 33 HP:0002027
6 chronic hemolytic anemia 33 HP:0004870
7 reticulocytosis 33 HP:0001923
8 hypercholesterolemia 33 HP:0003124
9 abnormality of the liver 33 HP:0001392
10 giant platelets 33 HP:0001902
11 episodic hemolytic anemia 33 HP:0004802
12 stomatocytosis 33 HP:0004446
13 impaired platelet aggregation 33 HP:0003540
14 hyperapobetalipoproteinemia 33 HP:0008158
15 coronary artery atherosclerosis 33 HP:0001677
16 abnormality of the integument 33 HP:0001574

Symptoms via clinical synopsis from OMIM:

58
Skeletal Limbs:
arthritis
joint arthralgia

Abdomen:
abdominal pain

Cardiovascular Vascular:
atherosclerosis
coronary atherosclerosis

Muscle Soft Tissue:
tendinous and tuberous xanthoma

Abdomen Spleen:
splenomegaly

Hematology:
chronic hemolytic anemia
reticulocytosis
giant platelets
stomatocytosis
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

UMLS symptoms related to Sitosterolemia:


abdominal pain

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

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.76 ABCG1 ABCG5 APOB CYP7A1 DYNC2LI1 HMGCR
2 digestive/alimentary MP:0005381 9.65 ABCG5 ABCG8 CYP27A1 CYP7A1 NPC1L1
3 homeostasis/metabolism MP:0005376 9.65 ABCG1 ABCG5 ABCG8 APOB CYP27A1 CYP7A1
4 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,Not Applicable 163222-33-1 150311
2 Anticholesteremic Agents Phase 3,Phase 2,Not Applicable
3 Phytosterol Phase 3,Phase 2,Phase 1,Not Applicable
4 Hypolipidemic Agents Phase 3,Phase 2,Not Applicable
5 Antimetabolites Phase 3,Phase 2,Not Applicable
6 Lipid Regulating Agents Phase 3,Phase 2,Not Applicable
7 Gamma-sitosterol Phase 3,Phase 2,Not Applicable
8 Insulin, Globin Zinc Not Applicable
9 insulin Not Applicable
10 Omega 3 Fatty Acid Not Applicable
11 Colesevelam Hydrochloride Not Applicable

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 Not Applicable Ezetimibe
9 Genetic Study of Sitosterolemia Completed NCT00004481
10 The Effect of Dietary Sitosterol on Blood Sugar and Cholesterol Completed NCT00531128 Not Applicable
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 Recruiting NCT01948648 Not Applicable 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 30 ABCG5 ABCG8

Anatomical Context for Sitosterolemia

MalaCards organs/tissues related to Sitosterolemia:

42
Skin, Heart, Testes, Spinal Cord, Thyroid, Monocytes

Publications for Sitosterolemia

Articles related to Sitosterolemia:

(show top 50) (show all 143)
# Title Authors Year
1
Severe aortic valve stenosis in a 14-year-old boy with sitosterolemia. ( 30528907 )
2019
2
Unusual presentations of sitosterolemia limited to hematological abnormalities: A report of four cases presenting with stomatocytic anemia and thrombocytopenia with macrothrombocytes. ( 30697800 )
2019
3
Clinical features, molecular characteristics, and treatments of a Chinese girl with sitosterolemia: A case report and literature review. ( 30782472 )
2019
4
Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review. ( 30985648 )
2019
5
Acute myocardial infarction in a 25-year-old woman with sitosterolemia. ( 29174072 )
2018
6
The association between hypercholesterolemia and sitosterolemia, and report of a sitosterolemia kindred. ( 29169939 )
2018
7
A case of sitosterolemia misdiagnosed as familial hypercholesterolemia: A 4-year follow-up. ( 29246730 )
2018
8
Oral Fat Tolerance Test for Sitosterolemia and Familial Hypercholesterolemia: A Study Protocol. ( 29353827 )
2018
9
Sitosterolemia: diagnosis, metabolic and hematological abnormalities, cardiovascular disease and management. ( 29984642 )
2018
10
Post-prandial Remnant Lipoprotein Metabolism in Sitosterolemia. ( 29998912 )
2018
11
First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes. ( 30007774 )
2018
12
Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease. ( 30033951 )
2018
13
Postprandial Hyperlipemia is an Indication for Additional Risk in Sitosterolemia. ( 30305464 )
2018
14
The natural history of phytosterolemia: Observations on its homeostasis. ( 29353227 )
2018
15
Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed. ( 29055934 )
2017
16
A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe. ( 28203044 )
2017
17
Effect of ezetimibe on low- and high-density lipoprotein subclasses in sitosterolemia. ( 28340366 )
2017
18
Antiatherogenic potential of ezetimibe in sitosterolemia: Beyond plant sterols lowering. ( 28365445 )
2017
19
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia. ( 28521186 )
2017
20
Sitosterolemia: A multifaceted metabolic disorder with important clinical consequences. ( 28545928 )
2017
21
Thyroid Hormone Status in Sitosterolemia Is Modified by Ezetimibe. ( 28625503 )
2017
22
Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia. ( 28696550 )
2017
23
Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene. ( 28771437 )
2017
24
Lipoprotein Apheresis for Sitosterolemia. ( 29049823 )
2017
25
A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing. ( 27170062 )
2016
26
Two novel mutations in the ABCG5 gene, c.144 -1G>A and c.1523 delC, in a Mexican family with sitosterolemia. ( 26892138 )
2016
27
Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management. ( 27104173 )
2016
28
Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia. ( 27231115 )
2016
29
Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia. ( 27401767 )
2016
30
Phytosterolemia. ( 26927922 )
2016
31
Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia. ( 25444527 )
2015
32
Hepatic or intestinal ABCG5 and ABCG8 are sufficient to block the development of sitosterolemia. ( 25527605 )
2015
33
An unusual occurrence of hepatic granulomas and secondary sitosterolemia in turner syndrome. ( 25705228 )
2015
34
Plant Sterols, Stanols, and Sitosterolemia. ( 25941971 )
2015
35
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. ( 24166850 )
2014
36
Severe hypercholesterolemia and phytosterolemia with extensive xanthomas in primary biliary cirrhosis: role of biliary excretion on sterol homeostasis. ( 25234565 )
2014
37
Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. ( 24423340 )
2014
38
Sitosterolemia: diagnosis, investigation, and management. ( 24821603 )
2014
39
Ezetimibe treatment should be considered for patients with sitosterolemia. ( 24839218 )
2014
40
Rebuttal to "ezetimibe treatment should be considered for patients with sitosterolemia". ( 24839219 )
2014
41
Sitosterolemia: a new mutation in a Mediterranean patient. ( 25110228 )
2014
42
A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis. ( 24623560 )
2014
43
Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia. ( 23926302 )
2013
44
Sitosterolemia: platelets on high-sterol diet. ( 24113795 )
2013
45
Non-cholesterol sterols and cholesterol metabolism in sitosterolemia. ( 24267242 )
2013
46
Investigating Sitosterolemia to Understand Lipid Physiology. ( 29928317 )
2013
47
A population-based study of autosomal-recessive disease-causing mutations in a founder population. ( 22981120 )
2012
48
Macrothrombocytopenia/stomatocytosis specially associated with phytosterolemia. ( 22297561 )
2012
49
Serum lipids, plant sterols, and cholesterol kinetic responses to plant sterol supplementation in phytosterolemia heterozygotes and control individuals. ( 22378727 )
2012
50
Phytosterols and phytosterolemia: gene-diet interactions. ( 21437027 )
2011

Variations for Sitosterolemia

UniProtKB/Swiss-Prot genetic disease variations for Sitosterolemia:

76 (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 rs117730980
11 ABCG8 p.Leu501Pro VAR_012259 rs123398940
12 ABCG8 p.Arg543Ser VAR_012260 rs201690654
13 ABCG8 p.Leu572Pro VAR_012262 rs769576789
14 ABCG8 p.Gly574Glu VAR_012263 rs132597938
15 ABCG8 p.Gly574Arg VAR_012264 rs137852988
16 ABCG8 p.Leu596Arg VAR_012266 rs137852992

ClinVar genetic disease variations for Sitosterolemia:

6 (show top 50) (show all 222)
# 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.1083G> A (p.Trp361Ter) single nucleotide variant Pathogenic rs137852987 GRCh38 Chromosome 2, 43872094: 43872094
3 ABCG8 NM_022437.2(ABCG8): c.1720G> A (p.Gly574Arg) single nucleotide variant Pathogenic/Likely pathogenic rs137852988 GRCh37 Chromosome 2, 44102516: 44102516
4 ABCG8 NM_022437.2(ABCG8): c.1720G> A (p.Gly574Arg) single nucleotide variant Pathogenic/Likely pathogenic rs137852988 GRCh38 Chromosome 2, 43875377: 43875377
5 ABCG8 NM_022437.2(ABCG8): c.1974C> G (p.Tyr658Ter) single nucleotide variant Likely pathogenic rs137852989 GRCh37 Chromosome 2, 44105004: 44105004
6 ABCG8 NM_022437.2(ABCG8): c.1974C> G (p.Tyr658Ter) single nucleotide variant Likely pathogenic rs137852989 GRCh38 Chromosome 2, 43877865: 43877865
7 ABCG8 NM_022437.2(ABCG8): c.788G> A (p.Arg263Gln) single nucleotide variant Uncertain significance rs137852990 GRCh37 Chromosome 2, 44079831: 44079831
8 ABCG8 NM_022437.2(ABCG8): c.788G> A (p.Arg263Gln) single nucleotide variant Uncertain significance rs137852990 GRCh38 Chromosome 2, 43852692: 43852692
9 ABCG8 NM_022437.2(ABCG8): c.547delC (p.Gln183Serfs) deletion Pathogenic rs387906323 GRCh37 Chromosome 2, 44078947: 44078947
10 ABCG8 NM_022437.2(ABCG8): c.547delC (p.Gln183Serfs) deletion Pathogenic rs387906323 GRCh38 Chromosome 2, 43851808: 43851808
11 ABCG8 NM_022437.2(ABCG8): c.1234C> T (p.Arg412Ter) single nucleotide variant Likely pathogenic rs137852991 GRCh37 Chromosome 2, 44100948: 44100948
12 ABCG8 NM_022437.2(ABCG8): c.1234C> T (p.Arg412Ter) single nucleotide variant Likely pathogenic rs137852991 GRCh38 Chromosome 2, 43873809: 43873809
13 ABCG8 NM_022437.2(ABCG8): c.1787T> G (p.Leu596Arg) single nucleotide variant Pathogenic rs137852992 GRCh37 Chromosome 2, 44104730: 44104730
14 ABCG8 NM_022437.2(ABCG8): c.1787T> G (p.Leu596Arg) single nucleotide variant Pathogenic rs137852992 GRCh38 Chromosome 2, 43877591: 43877591
15 ABCG8 NM_022437.2(ABCG8): c.691C> A (p.Pro231Thr) single nucleotide variant Pathogenic rs137852993 GRCh37 Chromosome 2, 44079622: 44079622
16 ABCG8 NM_022437.2(ABCG8): c.691C> A (p.Pro231Thr) single nucleotide variant Pathogenic rs137852993 GRCh38 Chromosome 2, 43852483: 43852483
17 ABCG5; ABCG8 NM_022437.2(ABCG8): c.55G> C (p.Asp19His) single nucleotide variant Conflicting interpretations of pathogenicity rs11887534 GRCh37 Chromosome 2, 44066247: 44066247
18 ABCG5; ABCG8 NM_022437.2(ABCG8): c.55G> C (p.Asp19His) single nucleotide variant Conflicting interpretations of pathogenicity rs11887534 GRCh38 Chromosome 2, 43839108: 43839108
19 ABCG5 NM_022436.2(ABCG5): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs119479065 GRCh37 Chromosome 2, 44051154: 44051154
20 ABCG5 NM_022436.2(ABCG5): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs119479065 GRCh38 Chromosome 2, 43824015: 43824015
21 ABCG5 NM_022436.2(ABCG5): c.727C> T (p.Arg243Ter) single nucleotide variant Pathogenic rs119479066 GRCh37 Chromosome 2, 44053568: 44053568
22 ABCG5 NM_022436.2(ABCG5): c.727C> T (p.Arg243Ter) single nucleotide variant Pathogenic rs119479066 GRCh38 Chromosome 2, 43826429: 43826429
23 ABCG5 NM_022436.2(ABCG5): c.1256G> A (p.Arg419His) single nucleotide variant Pathogenic rs119479067 GRCh37 Chromosome 2, 44051120: 44051120
24 ABCG5 NM_022436.2(ABCG5): c.1256G> A (p.Arg419His) single nucleotide variant Pathogenic rs119479067 GRCh38 Chromosome 2, 43823981: 43823981
25 ABCG5 NM_022436.2(ABCG5): c.1256G> C (p.Arg419Pro) single nucleotide variant Pathogenic rs119479067 GRCh37 Chromosome 2, 44051120: 44051120
26 ABCG5 NM_022436.2(ABCG5): c.1256G> C (p.Arg419Pro) single nucleotide variant Pathogenic rs119479067 GRCh38 Chromosome 2, 43823981: 43823981
27 ABCG5 NM_022436.2(ABCG5): c.1166G> A (p.Arg389His) single nucleotide variant Pathogenic rs119480069 GRCh37 Chromosome 2, 44051210: 44051210
28 ABCG5 NM_022436.2(ABCG5): c.1166G> A (p.Arg389His) single nucleotide variant Pathogenic rs119480069 GRCh38 Chromosome 2, 43824071: 43824071
29 ABCG5 NM_022436.2(ABCG5): c.229G> T (p.Glu77Ter) single nucleotide variant Pathogenic rs119480070 GRCh37 Chromosome 2, 44065009: 44065009
30 ABCG5 NM_022436.2(ABCG5): c.229G> T (p.Glu77Ter) single nucleotide variant Pathogenic rs119480070 GRCh38 Chromosome 2, 43837870: 43837870
31 ABCG5 NM_022436.2(ABCG5): c.46C> T (p.Gln16Ter) single nucleotide variant Pathogenic rs387906912 GRCh38 Chromosome 2, 43838634: 43838634
32 ABCG5 NM_022436.2(ABCG5): c.46C> T (p.Gln16Ter) single nucleotide variant Pathogenic rs387906912 GRCh37 Chromosome 2, 44065773: 44065773
33 ABCG5 NM_022436.2(ABCG5): c.1336C> T (p.Arg446Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199689137 GRCh37 Chromosome 2, 44050063: 44050063
34 ABCG5 NM_022436.2(ABCG5): c.1336C> T (p.Arg446Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199689137 GRCh38 Chromosome 2, 43822924: 43822924
35 ABCG8 NM_022437.2(ABCG8): c.320C> G (p.Ser107Ter) single nucleotide variant Pathogenic rs137854891 GRCh37 Chromosome 2, 44073448: 44073448
36 ABCG8 NM_022437.2(ABCG8): c.320C> G (p.Ser107Ter) single nucleotide variant Pathogenic rs137854891 GRCh38 Chromosome 2, 43846309: 43846309
37 ABCG5; ABCG8 NM_022437.2(ABCG8): c.-19T> G single nucleotide variant Benign rs3806471 GRCh37 Chromosome 2, 44066174: 44066174
38 ABCG5; ABCG8 NM_022437.2(ABCG8): c.-19T> G single nucleotide variant Benign rs3806471 GRCh38 Chromosome 2, 43839035: 43839035
39 ABCG5 NM_022436.2(ABCG5): c.1864A> G (p.Met622Val) single nucleotide variant Benign/Likely benign rs140374206 GRCh37 Chromosome 2, 44040347: 44040347
40 ABCG5 NM_022436.2(ABCG5): c.1864A> G (p.Met622Val) single nucleotide variant Benign/Likely benign rs140374206 GRCh38 Chromosome 2, 43813208: 43813208
41 ABCG8 NM_022437.2(ABCG8): c.1201A> T (p.Thr401Ser) single nucleotide variant Uncertain significance rs144200355 GRCh37 Chromosome 2, 44099435: 44099435
42 ABCG8 NM_022437.2(ABCG8): c.1201A> T (p.Thr401Ser) single nucleotide variant Uncertain significance rs144200355 GRCh38 Chromosome 2, 43872296: 43872296
43 ABCG8 NM_022437.2(ABCG8): c.1199C> A (p.Thr400Lys) single nucleotide variant Benign rs4148217 GRCh37 Chromosome 2, 44099433: 44099433
44 ABCG8 NM_022437.2(ABCG8): c.1199C> A (p.Thr400Lys) single nucleotide variant Benign rs4148217 GRCh38 Chromosome 2, 43872294: 43872294
45 ABCG5 NM_022436.2(ABCG5): c.978delA (p.Glu326Aspfs) deletion Pathogenic/Likely pathogenic rs869025350 GRCh38 Chromosome 2, 43824359: 43824359
46 ABCG5 NM_022436.2(ABCG5): c.978delA (p.Glu326Aspfs) deletion Pathogenic/Likely pathogenic rs869025350 GRCh37 Chromosome 2, 44051498: 44051498
47 ABCG8 NM_022437.2(ABCG8): c.1645G> A (p.Ala549Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140690030 GRCh37 Chromosome 2, 44102441: 44102441
48 ABCG8 NM_022437.2(ABCG8): c.1645G> A (p.Ala549Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140690030 GRCh38 Chromosome 2, 43875302: 43875302
49 ABCG8 NM_022437.2(ABCG8): c.1436A> G (p.Tyr479Cys) single nucleotide variant Uncertain significance rs150890296 GRCh37 Chromosome 2, 44101570: 44101570
50 ABCG8 NM_022437.2(ABCG8): c.1436A> G (p.Tyr479Cys) single nucleotide variant Uncertain significance rs150890296 GRCh38 Chromosome 2, 43874431: 43874431

Expression for Sitosterolemia

Search GEO for disease gene expression data for Sitosterolemia.

Pathways for Sitosterolemia

Pathways related to Sitosterolemia according to KEGG:

38
# Name Kegg Source Accession
1 ABC transporters hsa02010

GO Terms for Sitosterolemia

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.55 ABCG1 APOB CYP7A1 HMGCR MTTP
2 apical plasma membrane GO:0016324 9.5 ABCG5 ABCG8 NPC1L1
3 brush border membrane GO:0031526 9.26 MTTP NPC1L1
4 receptor complex GO:0043235 9.13 ABCG5 ABCG8 MTTP
5 ATP-binding cassette (ABC) transporter complex GO:0043190 8.62 ABCG5 ABCG8

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.89 APOB CYP7A1 HMGCR MTTP NPC1L1
2 response to drug GO:0042493 9.8 ABCG5 ABCG8 NPC1L1
3 steroid metabolic process GO:0008202 9.71 APOB CYP7A1 HMGCR NPC1L1
4 response to nutrient GO:0007584 9.7 ABCG5 ABCG8 HMGCR
5 phospholipid transport GO:0015914 9.62 ABCG8 MTTP
6 cholesterol biosynthetic process GO:0006695 9.61 HMGCR NPC1L1
7 excretion GO:0007588 9.61 ABCG5 ABCG8
8 cholesterol transport GO:0030301 9.61 ABCG1 APOB NPC1L1
9 regulation of cholesterol biosynthetic process GO:0045540 9.6 APOB HMGCR
10 bile acid biosynthetic process GO:0006699 9.59 CYP27A1 CYP7A1
11 sterol metabolic process GO:0016125 9.58 CYP27A1 CYP7A1
12 lipoprotein transport GO:0042953 9.58 APOB MTTP
13 low-density lipoprotein particle remodeling GO:0034374 9.57 ABCG1 APOB
14 very-low-density lipoprotein particle assembly GO:0034379 9.56 APOB MTTP
15 cholesterol efflux GO:0033344 9.56 ABCG1 ABCG5 ABCG8 APOB
16 chylomicron assembly GO:0034378 9.55 APOB MTTP
17 cholesterol metabolic process GO:0008203 9.55 ABCG1 APOB CYP7A1 HMGCR NPC1L1
18 positive regulation of cholesterol biosynthetic process GO:0045542 9.54 ABCG1 CYP7A1
19 lipoprotein metabolic process GO:0042157 9.54 APOB MTTP NPC1L1
20 coenzyme A metabolic process GO:0015936 9.51 ACAT1 HMGCR
21 intestinal cholesterol absorption GO:0030299 9.5 ABCG5 ABCG8 NPC1L1
22 negative regulation of intestinal cholesterol absorption GO:0045796 9.48 ABCG5 ABCG8
23 negative regulation of intestinal phytosterol absorption GO:0010949 9.46 ABCG5 ABCG8
24 lipid transport GO:0006869 9.43 ABCG1 ABCG5 ABCG8 APOB MTTP NPC1L1
25 cholesterol homeostasis GO:0042632 9.1 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 protein heterodimerization activity GO:0046982 9.62 ABCG1 ABCG5 ABCG8 MTTP
2 ATPase activity GO:0016887 9.58 ABCG1 ABCG5 ABCG8
3 lipid transporter activity GO:0005319 9.37 APOB MTTP
4 phospholipid transporter activity GO:0005548 9.26 ABCG1 MTTP
5 coenzyme binding GO:0050662 9.16 ACAT1 HMGCR
6 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.13 ABCG1 ABCG5 ABCG8
7 cholesterol transporter activity GO:0017127 8.92 ABCG1 ABCG5 ABCG8 APOB

Sources for Sitosterolemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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