MCID: STS003
MIFTS: 58

Sitosterolemia

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Sitosterolemia

MalaCards integrated aliases for Sitosterolemia:

Name: Sitosterolemia 57 12 76 24 53 25 75 37 29 13 55 6 44 15 40 73
Phytosterolemia 57 12 24 53 25 75
Plant Sterol Storage Disease 53 25
Beta-Sitosterolemia 24 25
Stsl 57 75
Retention of Dietary Cholesterol and Abnormal Retention of Non-Cholesterol Sterols in the Body 53
Sitosterolemia with Xanthomatosis 73
Shellfish Sterolemia 75
Phytosterolaemia 25
Phytosterolæmia 24
Sitosterolaemia 25
Sitosterolæmia 24

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
sitosterolemia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sitosterolemia

NIH Rare Diseases : 53 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 Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and liver, 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 : 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 : 57 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 : 75 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 : 76 Sitosterolemia (also known as \"Phytosterolemia\") is a rare autosomal recessively inherited lipid... more...

GeneReviews: NBK131810

Related Diseases for Sitosterolemia

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

(show all 34)
# Related Disease Score Top Affiliating Genes
1 cerebrotendinous xanthomatosis 32.2 CYP7A1 HMGCR
2 xanthomatosis 30.7 APOB CYP7A1 HMGCR
3 smith-lemli-opitz syndrome 29.3 FDFT1 HMGCR
4 hypercholesterolemia, familial 27.2 ABCG5 ABCG8 APOB CYP7A1 HMGCR MTTP
5 gallbladder disease 4 10.6 ABCG5 ABCG8
6 short-rib thoracic dysplasia 15 with polydactyly 10.5 ABCG5 DYNC2LI1
7 aortic atherosclerosis 10.5 ABCG5 ABCG8
8 defective apolipoprotein b-100 10.4 APOB HMGCR
9 hyperlipoproteinemia, type iii 10.3 APOB HMGCR
10 hypobetalipoproteinemia, familial, 1 10.2 APOB MTTP
11 gallbladder disease 10.2 ABCG5 ABCG8 APOB
12 cholelithiasis 10.2 ABCG5 ABCG8 CYP7A1
13 hypolipoproteinemia 10.2 APOB MTTP
14 chylomicron retention disease 10.1 APOB MTTP
15 hepatitis 10.1
16 abetalipoproteinemia 10.0 APOB MTTP
17 myocardial infarction 9.9
18 familial hyperlipidemia 9.9 APOB HMGCR
19 lecithin:cholesterol acyltransferase deficiency 9.9 APOB NPC1L1
20 opitz gbbb syndrome, type i 9.9
21 coronary heart disease 1 9.8 APOB HMGCR MTTP
22 lipid metabolism disorder 9.8 APOB HMGCR MTTP
23 familial mediterranean fever 9.8
24 acute myocardial infarction 9.8
25 hemolytic anemia 9.8
26 thrombocytopenia 9.8
27 brucellosis 9.8
28 turner syndrome 9.8
29 paraplegia 9.8
30 thyroiditis 9.8
31 lipid storage disease 9.8
32 cryptogenic cirrhosis 9.8
33 homozygous familial hypercholesterolemia 9.8 ABCG5 ABCG8 APOB HMGCR
34 tangier disease 9.6 ABCG1 APOB

Graphical network of the top 20 diseases related to Sitosterolemia:



Diseases related to Sitosterolemia

Symptoms & Phenotypes for Sitosterolemia

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
arthritis
joint arthralgia

Abdomen:
abdominal pain

Cardiovascular Vascular:
atherosclerosis
coronary atherosclerosis

Muscle Soft Tissue:
tendinous and tuberous xanthoma

AbdomenSpleen:
splenomegaly

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:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 arthritis 32 HP:0001369
2 splenomegaly 32 HP:0001744
3 arthralgia 32 HP:0002829
4 abnormal bleeding 32 HP:0001892
5 abdominal pain 32 HP:0002027
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 episodic hemolytic anemia 32 HP:0004802
11 stomatocytosis 32 HP:0004446
12 giant platelets 32 HP:0001902
13 impaired platelet aggregation 32 HP:0003540
14 hyperapobetalipoproteinemia 32 HP:0008158
15 coronary artery atherosclerosis 32 HP:0001677
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
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.81 MTTP NPC1L1 ABCG1 ABCG5 APOB CYP7A1
2 homeostasis/metabolism MP:0005376 9.61 ABCG1 ABCG5 ABCG8 APOB CYP7A1 DYNC2LI1
3 liver/biliary system MP:0005370 9.23 ABCG1 ABCG5 ABCG8 APOB CYP7A1 HMGCR

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 Hypolipidemic Agents Phase 3,Phase 2,Not Applicable
3 Anticholesteremic Agents Phase 3,Phase 2,Not Applicable
4 Lipid Regulating Agents Phase 3,Phase 2,Not Applicable
5 Antimetabolites Phase 3,Phase 2,Not Applicable
6 Gamma-sitosterol Phase 3,Phase 2,Not Applicable
7 Phytosterol Nutraceutical Phase 3,Phase 2,Phase 1,Not Applicable
8 insulin Not Applicable
9 Insulin, Globin Zinc Not Applicable
10 Colesevelam Hydrochloride Not Applicable
11 Omega 3 Fatty Acid Nutraceutical 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 Not yet 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 29 ABCG5 ABCG8

Anatomical Context for Sitosterolemia

MalaCards organs/tissues related to Sitosterolemia:

41
Skin, Heart, Liver, Testes, Spinal Cord, Thyroid, Monocytes

Publications for Sitosterolemia

Articles related to Sitosterolemia:

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

Variations for Sitosterolemia

UniProtKB/Swiss-Prot genetic disease variations for Sitosterolemia:

75 (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 top 50) (show all 226)
# 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 Pathogenic rs137852990 GRCh37 Chromosome 2, 44079831: 44079831
8 ABCG8 NM_022437.2(ABCG8): c.788G> A (p.Arg263Gln) single nucleotide variant Pathogenic 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 NM_022436.2(ABCG5): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs119479065 GRCh37 Chromosome 2, 44051154: 44051154
18 ABCG5 NM_022436.2(ABCG5): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs119479065 GRCh38 Chromosome 2, 43824015: 43824015
19 ABCG5 NM_022436.2(ABCG5): c.727C> T (p.Arg243Ter) single nucleotide variant Pathogenic rs119479066 GRCh37 Chromosome 2, 44053568: 44053568
20 ABCG5 NM_022436.2(ABCG5): c.727C> T (p.Arg243Ter) single nucleotide variant Pathogenic rs119479066 GRCh38 Chromosome 2, 43826429: 43826429
21 ABCG5 NM_022436.2(ABCG5): c.1256G> A (p.Arg419His) single nucleotide variant Pathogenic rs119479067 GRCh37 Chromosome 2, 44051120: 44051120
22 ABCG5 NM_022436.2(ABCG5): c.1256G> A (p.Arg419His) single nucleotide variant Pathogenic rs119479067 GRCh38 Chromosome 2, 43823981: 43823981
23 ABCG5 NM_022436.2(ABCG5): c.1256G> C (p.Arg419Pro) single nucleotide variant Pathogenic rs119479067 GRCh37 Chromosome 2, 44051120: 44051120
24 ABCG5 NM_022436.2(ABCG5): c.1256G> C (p.Arg419Pro) single nucleotide variant Pathogenic rs119479067 GRCh38 Chromosome 2, 43823981: 43823981
25 ABCG5 NM_022436.2(ABCG5): c.1166G> A (p.Arg389His) single nucleotide variant Pathogenic rs119480069 GRCh37 Chromosome 2, 44051210: 44051210
26 ABCG5 NM_022436.2(ABCG5): c.1166G> A (p.Arg389His) single nucleotide variant Pathogenic rs119480069 GRCh38 Chromosome 2, 43824071: 43824071
27 ABCG5 NM_022436.2(ABCG5): c.229G> T (p.Glu77Ter) single nucleotide variant Pathogenic rs119480070 GRCh37 Chromosome 2, 44065009: 44065009
28 ABCG5 NM_022436.2(ABCG5): c.229G> T (p.Glu77Ter) single nucleotide variant Pathogenic rs119480070 GRCh38 Chromosome 2, 43837870: 43837870
29 ABCG5 NM_022436.2(ABCG5): c.46C> T (p.Gln16Ter) single nucleotide variant Pathogenic rs387906912 GRCh37 Chromosome 2, 44065773: 44065773
30 ABCG5 NM_022436.2(ABCG5): c.46C> T (p.Gln16Ter) single nucleotide variant Pathogenic rs387906912 GRCh38 Chromosome 2, 43838634: 43838634
31 ABCG5 NM_022436.2(ABCG5): c.1336C> T (p.Arg446Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199689137 GRCh37 Chromosome 2, 44050063: 44050063
32 ABCG5 NM_022436.2(ABCG5): c.1336C> T (p.Arg446Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199689137 GRCh38 Chromosome 2, 43822924: 43822924
33 ABCG8 NM_022437.2(ABCG8): c.320C> G (p.Ser107Ter) single nucleotide variant Pathogenic rs137854891 GRCh37 Chromosome 2, 44073448: 44073448
34 ABCG8 NM_022437.2(ABCG8): c.320C> G (p.Ser107Ter) single nucleotide variant Pathogenic rs137854891 GRCh38 Chromosome 2, 43846309: 43846309
35 ABCG5; ABCG8 NM_022437.2(ABCG8): c.-19T> G single nucleotide variant Benign rs3806471 GRCh37 Chromosome 2, 44066174: 44066174
36 ABCG5; ABCG8 NM_022437.2(ABCG8): c.-19T> G single nucleotide variant Benign rs3806471 GRCh38 Chromosome 2, 43839035: 43839035
37 ABCG5 NM_022436.2(ABCG5): c.1864A> G (p.Met622Val) single nucleotide variant Benign/Likely benign rs140374206 GRCh37 Chromosome 2, 44040347: 44040347
38 ABCG5 NM_022436.2(ABCG5): c.1864A> G (p.Met622Val) single nucleotide variant Benign/Likely benign rs140374206 GRCh38 Chromosome 2, 43813208: 43813208
39 ABCG8 NM_022437.2(ABCG8): c.1199C> A (p.Thr400Lys) single nucleotide variant Benign rs4148217 GRCh37 Chromosome 2, 44099433: 44099433
40 ABCG8 NM_022437.2(ABCG8): c.1199C> A (p.Thr400Lys) single nucleotide variant Benign rs4148217 GRCh38 Chromosome 2, 43872294: 43872294
41 ABCG5 NM_022436.2(ABCG5): c.978delA (p.Glu326Aspfs) deletion Pathogenic/Likely pathogenic rs869025350 GRCh38 Chromosome 2, 43824359: 43824359
42 ABCG5 NM_022436.2(ABCG5): c.978delA (p.Glu326Aspfs) deletion Pathogenic/Likely pathogenic rs869025350 GRCh37 Chromosome 2, 44051498: 44051498
43 ABCG8 NM_022437.2(ABCG8): c.1645G> A (p.Ala549Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140690030 GRCh37 Chromosome 2, 44102441: 44102441
44 ABCG8 NM_022437.2(ABCG8): c.1645G> A (p.Ala549Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140690030 GRCh38 Chromosome 2, 43875302: 43875302
45 ABCG8 NM_022437.2(ABCG8): c.1436A> G (p.Tyr479Cys) single nucleotide variant Uncertain significance rs150890296 GRCh37 Chromosome 2, 44101570: 44101570
46 ABCG8 NM_022437.2(ABCG8): c.1436A> G (p.Tyr479Cys) single nucleotide variant Uncertain significance rs150890296 GRCh38 Chromosome 2, 43874431: 43874431
47 ABCG5 NM_022436.2(ABCG5): c.80G> C (p.Gly27Ala) single nucleotide variant Uncertain significance rs56204478 GRCh37 Chromosome 2, 44065739: 44065739
48 ABCG5 NM_022436.2(ABCG5): c.80G> C (p.Gly27Ala) single nucleotide variant Uncertain significance rs56204478 GRCh38 Chromosome 2, 43838600: 43838600
49 ABCG8 NM_022437.2(ABCG8): c.453G> A (p.Val151=) single nucleotide variant Benign/Likely benign rs56132765 GRCh37 Chromosome 2, 44078853: 44078853
50 ABCG8 NM_022437.2(ABCG8): c.453G> A (p.Val151=) single nucleotide variant Benign/Likely benign rs56132765 GRCh38 Chromosome 2, 43851714: 43851714

Expression for Sitosterolemia

Search GEO for disease gene expression data for Sitosterolemia.

Pathways for Sitosterolemia

Pathways related to Sitosterolemia according to KEGG:

37
# 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
13.65 ABCG1 ABCG5 ABCG8 ACAT1 APOB CYP7A1
2
Show member pathways
12.55 ACAT1 CYP7A1 FDFT1 HMGCR
3
Show member pathways
12.17 ABCG1 ABCG5 ABCG8 APOB MTTP NPC1L1
4
Show member pathways
12.15 ABCG5 ABCG8 CYP7A1
5
Show member pathways
11.66 ACAT1 FDFT1 HMGCR
6 11.41 ABCG5 ABCG8 CYP7A1 HMGCR
7
Show member pathways
11.24 ABCG5 ABCG8 APOB CYP7A1 FDFT1 HMGCR
8 11.22 ABCG5 ABCG8 NPC1L1
9 11.09 ABCG1 ABCG5 CYP7A1
10
Show member pathways
11 ABCG5 ABCG8 APOB MTTP NPC1L1
11
Show member pathways
10.92 FDFT1 HMGCR

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 membrane GO:0005789 9.55 ABCG1 APOB CYP7A1 FDFT1 HMGCR
2 apical plasma membrane GO:0016324 9.54 ABCG5 ABCG8 NPC1L1
3 receptor complex GO:0043235 9.43 ABCG5 ABCG8 MTTP
4 endoplasmic reticulum GO:0005783 9.43 ABCG1 APOB CYP7A1 FDFT1 HMGCR MTTP
5 brush border membrane GO:0031526 9.32 MTTP NPC1L1
6 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 27)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.91 APOB CYP7A1 FDFT1 HMGCR MTTP NPC1L1
2 response to drug GO:0042493 9.8 ABCG5 ABCG8 NPC1L1
3 steroid metabolic process GO:0008202 9.77 APOB CYP7A1 FDFT1 HMGCR NPC1L1
4 regulation of lipid metabolic process GO:0019216 9.74 CYP7A1 FDFT1 HMGCR
5 response to nutrient GO:0007584 9.73 ABCG5 ABCG8 HMGCR
6 cholesterol biosynthetic process GO:0006695 9.7 FDFT1 HMGCR NPC1L1
7 regulation of cholesterol biosynthetic process GO:0045540 9.69 APOB FDFT1 HMGCR
8 steroid biosynthetic process GO:0006694 9.63 FDFT1 HMGCR
9 lipoprotein metabolic process GO:0042157 9.63 APOB MTTP NPC1L1
10 lipid transport GO:0006869 9.63 ABCG1 ABCG5 ABCG8 APOB MTTP NPC1L1
11 phospholipid transport GO:0015914 9.62 ABCG8 MTTP
12 excretion GO:0007588 9.62 ABCG5 ABCG8
13 cholesterol transport GO:0030301 9.62 ABCG1 ABCG8 APOB NPC1L1
14 sterol biosynthetic process GO:0016126 9.61 FDFT1 HMGCR
15 lipoprotein transport GO:0042953 9.61 APOB MTTP
16 isoprenoid biosynthetic process GO:0008299 9.6 FDFT1 HMGCR
17 low-density lipoprotein particle remodeling GO:0034374 9.59 ABCG1 APOB
18 chylomicron assembly GO:0034378 9.58 APOB MTTP
19 very-low-density lipoprotein particle assembly GO:0034379 9.58 APOB MTTP
20 intestinal cholesterol absorption GO:0030299 9.58 ABCG5 ABCG8 NPC1L1
21 cholesterol efflux GO:0033344 9.56 ABCG1 ABCG5 ABCG8 APOB
22 coenzyme A metabolic process GO:0015936 9.55 ACAT1 HMGCR
23 ergosterol biosynthetic process GO:0006696 9.54 ACAT1 FDFT1
24 negative regulation of intestinal phytosterol absorption GO:0010949 9.49 ABCG5 ABCG8
25 negative regulation of intestinal cholesterol absorption GO:0045796 9.48 ABCG5 ABCG8
26 cholesterol metabolic process GO:0008203 9.43 ABCG1 APOB CYP7A1 FDFT1 HMGCR NPC1L1
27 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 9.71 ABCG1 ABCG5 ABCG8 MTTP
2 ATPase activity GO:0016887 9.61 ABCG1 ABCG5 ABCG8
3 lipid transporter activity GO:0005319 9.37 APOB MTTP
4 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.33 ABCG1 ABCG5 ABCG8
5 phospholipid transporter activity GO:0005548 9.32 ABCG1 MTTP
6 coenzyme binding GO:0050662 9.26 ACAT1 HMGCR
7 sterol-transporting ATPase activity GO:0034041 8.96 ABCG1 ABCG8
8 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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