STSL
MCID: STS003
MIFTS: 58

Sitosterolemia (STSL)

Categories: Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Sitosterolemia

MalaCards integrated aliases for Sitosterolemia:

Name: Sitosterolemia 57 12 75 24 53 25 59 74 37 29 13 55 6 44 15 40 72
Phytosterolemia 57 12 24 53 25 59 74
Plant Sterol Storage Disease 53 25
Beta-Sitosterolemia 24 25
Stsl 57 74
Retention of Dietary Cholesterol and Abnormal Retention of Non-Cholesterol Sterols in the Body 53
Sitosterolemia with Xanthomatosis 72
Shellfish Sterolemia 74
Phytosterolaemia 25
Phytosterolæmia 24
Sitosterolaemia 25
Sitosterolæmia 24

Characteristics:

Orphanet epidemiological data:

59
sitosterolemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
sitosterolemia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090019
OMIM 57 210250
KEGG 37 H00152
MeSH 44 C537345
NCIt 50 C125694
MESH via Orphanet 45 C537345
ICD10 via Orphanet 34 E78.0
UMLS via Orphanet 73 C0342907
Orphanet 59 ORPHA2882
UMLS 72 C0268202 C0342907

Summaries for Sitosterolemia

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. Plant sterols are not produced by the body; they are taken in as components of foods. Signs and symptoms of sitosterolemia may begin to appear early in life after foods containing plant sterols are introduced into the diet, although some affected individuals have no obvious symptoms. In people with sitosterolemia, accumulation of fatty deposits in arteries (atherosclerosis) can occur as early as childhood. These deposits narrow the arteries and can eventually block blood flow, increasing the chance of a heart attack, stroke, or sudden death. Some people with sitosterolemia develop small yellowish growths called xanthomas beginning in childhood. Xanthomas consist of accumulated lipids and may be located anywhere on or just under the skin, typically on the heels, knees, elbows, and buttocks. They may also occur in the bands that connect muscles to bones (tendons), including tendons of the hand and the tendon that connects the heel of the foot to the calf muscles (the Achilles tendon). Large xanthomas can cause pain, difficulty with movement, and cosmetic problems. Joint stiffness and pain resulting from plant sterol deposits may also occur in individuals with sitosterolemia. Less often, affected individuals have blood abnormalities. Occasionally the blood abnormalities are the only signs of the disorder. The red blood cells may be broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). This type of anemia is called hemolytic anemia. Affected individuals sometimes have abnormally shaped red blood cells called stomatocytes. In addition, the blood cell fragments involved in clotting, called platelets or thrombocytes, may be abnormally large (macrothrombocytopenia).

MalaCards based summary : Sitosterolemia, also known as phytosterolemia, is related to cerebrotendinous xanthomatosis and hyperlipoproteinemia, type iii, 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 Phytosterol have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and bone, 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.

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 an autosomal recessive 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.

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)

KEGG : 37
Sitosterolemia is an autosomal recessive lipid disorder caused by mutation in the ABC transporter gene and characterized by elevated plasma levels of plant sterols due to increased intestinal absorption and reduced biliary secretion of neutral sterols.

UniProtKB/Swiss-Prot : 74 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 : 75 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 top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 cerebrotendinous xanthomatosis 31.7 HMGCR CYP7A1 CYP27A1
2 hyperlipoproteinemia, type iii 30.2 HMGCR APOB
3 lipid metabolism disorder 30.1 MTTP HMGCR APOB
4 xanthomatosis 29.9 HMGCR CYP7A1 CYP27A1 APOB
5 homozygous familial hypercholesterolemia 29.0 MTTP HMGCR APOB ABCG8 ABCG5
6 hypercholesterolemia, familial, 1 10.7
7 autosomal recessive disease 10.6
8 familial hypercholesterolemia 10.5
9 hemolytic anemia 10.5
10 gallbladder disease 4 10.5 ABCG8 ABCG5
11 short-rib thoracic dysplasia 15 with polydactyly 10.4 DYNC2LI1 ABCG5
12 aortic atherosclerosis 10.4 ABCG8 ABCG5
13 cholestasis, progressive familial intrahepatic, 1 10.3 ABCG8 ABCG5
14 liver cirrhosis 10.3
15 lipid storage disease 10.3
16 splenomegaly 10.3
17 liver disease 10.3
18 defective apolipoprotein b-100 10.3 HMGCR APOB
19 hyperlipoproteinemia, type v 10.3 HMGCR APOB
20 cholestasis, benign recurrent intrahepatic, 1 10.2 ABCG8 ABCG5
21 cytokine deficiency 10.2
22 gallbladder disease 10.2 APOB ABCG8 ABCG5
23 smith-lemli-opitz syndrome 10.1
24 opitz gbbb syndrome, type i 10.1
25 heart valve disease 10.1
26 atherosclerosis susceptibility 10.1
27 myocardial infarction 10.1
28 thrombocytopenia due to platelet alloimmunization 10.1
29 thrombocytopenia 10.1
30 vascular disease 10.1
31 paraplegia 10.1
32 cryptogenic cirrhosis 10.1
33 hypobetalipoproteinemia, familial, 1 10.1 MTTP APOB
34 dowling-degos disease 1 10.1
35 hypersplenism 10.1
36 growth hormone deficiency 10.1
37 cholelithiasis 10.1 CYP7A1 ABCG8 ABCG5
38 hypolipoproteinemia 10.1 MTTP APOB
39 chylomicron retention disease 10.1 MTTP APOB
40 leukemia, acute lymphoblastic 3 10.0
41 primary biliary cirrhosis 10.0
42 cholestasis 10.0
43 hepatoblastoma 10.0
44 primary biliary cholangitis 10.0
45 arteries, anomalies of 10.0
46 atrial standstill 1 10.0
47 hypertriglyceridemia, familial 10.0
48 familial mediterranean fever 10.0
49 coronary heart disease 1 10.0
50 aortic valve disease 2 10.0

Graphical network of the top 20 diseases related to Sitosterolemia:



Diseases related to Sitosterolemia

Symptoms & Phenotypes for Sitosterolemia

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 giant platelets 32 HP:0001902
11 coronary artery atherosclerosis 32 HP:0001677
12 episodic hemolytic anemia 32 HP:0004802
13 stomatocytosis 32 HP:0004446
14 abnormality of the integument 32 HP:0001574
15 impaired platelet aggregation 32 HP:0003540
16 hyperapobetalipoproteinemia 32 HP:0008158

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
arthritis
joint arthralgia

Abdomen:
abdominal pain

Cardiovascular Vascular:
atherosclerosis
coronary atherosclerosis

Abdomen Liver:
cholesterol biosynthesis severely depressed

Abdomen Spleen:
splenomegaly

Hematology:
chronic hemolytic anemia
reticulocytosis
giant platelets
stomatocytosis
impaired platelet aggregation
more
Laboratory Abnormalities:
hyperapobetalipoproteinemia
elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia)
elevated plasma campesterol
elevated plasma stigmasterol
microsomal hmg-coa reductase decreased
more
Muscle Soft Tissue:
tendinous and tuberous xanthoma

Clinical features from OMIM:

210250

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 9.76 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

DrugBank drugs 16 :

# Drug Name Indication DrugBank ID
1 Ezetimibe Ezetimibe is indicated to reduce elevated total-C, LDL-C, Apo B, and non-HDL-C in patients with primary hyperlipidemia, alone or in combination with an HMG-CoA reductase inhibitor (statin), reduce elevated total-C, LDL-C, Apo B, and non-HDL-C in patients with mixed hyperlipidemia in combination with fenofibrate, reduce elevated total-C and LDL-C in patients with homozygous familial hypercholesterolemia (HoFH), in combination with atorvastatin or simvastatin, and to reduce elevated sitosterol and campesterol in patients with homozygous sitosterolemia (phytosterolemia) [FDA Label]. DB00973

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 163222-33-1 150311
2 Phytosterol Phase 3
3 Gamma-sitosterol Phase 3
4 Lipid Regulating Agents Phase 3
5 Hypolipidemic Agents Phase 3
6 Antimetabolites Phase 3
7 Anticholesteremic Agents Phase 3
8 insulin
9 Insulin, Globin Zinc
10 Omega 3 Fatty Acid
11 Colesevelam Hydrochloride

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Efficacy and Safety of Adding Ezetimibe 30 mg to An Ongoing Regimen of Ezetimibe 10 mg in Patients Homozygous Sitosterolemia Completed NCT00092898 Phase 3 MK0653, ezetimibe;Comparator: placebo
2 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of MK0653 When Added to Current Regimen in Patients With Homozygous Sitosterolemia Completed NCT00092820 Phase 3 MK0653, ezetimibe;Comparator: placebo
3 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of MK0653 When Added to Current Regimen in Patients With Homozygous Sitosterolemia - 1 Year Open-Label Extension Completed NCT00092807 Phase 3 MK0653, ezetimibe;Comparator: placebo
4 A Study to Assess Adding Ezetimibe 30 mg to Ongoing Treatment With Ezetimibe 10 mg in Patients With Homozygous Sitosterolemia Completed NCT00099996 Phase 3 SCH-58235;Ezetimibe
5 An Open-Label, Worldwide, Treatment Use Study to Provide Ezetimibe 10 Mg/Day to Patients With Homozygous Familial Hypercholesterolemia or Homozygous Sitosterolemia Terminated NCT00092833 Phase 3 Comparator: ezetimibe
6 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Study to Evaluate SCH-58235 in Homozygous Sitosterolemia Completed NCT00045812 Phase 2 SCH-58235
7 Assessment of Cholesterol Metabolism in Heterozygous Phytosterolemia Completed NCT01102647 Phase 1
8 Assessment of Sterol Metabolism in Sitosterolemia: A Pilot Study of Patients Treated With Ezetimibe Unknown status NCT01584206 Ezetimibe
9 Genetic Study of Sitosterolemia Completed NCT00004481
10 A Nutrigenomics Intervention for the Study of the Role of Dietary Sitosterol on Lipid, Glucose and Energy Metabolism Completed NCT00531128
11 Effects of Fish Oil, Colesevelam and Combination Therapy on Sterol Metabolism in Sitosterolemia Recruiting NCT01948648 Colesevelam;Combination of fish oil and colesevelam
12 BioHoFH - Biomarker for Homozygous Familial Hypercholesterolemia AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT03198897

Search NIH Clinical Center for Sitosterolemia

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Ezetimibe

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
Heart, Skin, Bone, Liver, Testes, Small Intestine, Spinal Cord

Publications for Sitosterolemia

Articles related to Sitosterolemia:

(show top 50) (show all 315)
# Title Authors PMID Year
1
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. 38 4 8 71
20719861 2010
2
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 38 4 8 71
11099417 2000
3
Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. 38 4 8 71
4360855 1974
4
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 4 8 71
22981120 2012
5
Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots. 4 8 71
15996216 2005
6
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. 4 8 71
16029460 2005
7
Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. 9 38 8 71
11138003 2001
8
Hyperapobetalipoproteinaemia in two families with xanthomas and phytosterolaemia. 4 8 71
6110091 1981
9
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. 9 38 4 71
11452359 2001
10
Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia. 38 8 71
3706300 1986
11
Beta-sitosterolemia and xanthomatosis. 38 4 8
1246333 1976
12
Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene. 4 71
17976197 2007
13
Phytosterolaemia, xanthomatosis and premature atherosclerotic arterial disease: a case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis. 4 8
6768564 1980
14
Sitosterolemia 38 71
23556150 2013
15
Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases. 9 38 4
19111681 2009
16
Phenotypic heterogeneity of sitosterolemia. 9 38 4
15375183 2004
17
Phytosterolemia on the island of Kosrae: founder effect for a novel ABCG8 mutation results in high carrier rate and increased plasma plant sterol levels. 9 38 4
15210841 2004
18
Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia. 9 38 4
14769702 2004
19
Images in clinical medicine. Phytosterolemia and xanthomatosis. 38 8
12840092 2003
20
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. 9 38 4
11668628 2001
21
Genetic basis of sitosterolemia. 9 38 4
11264985 2001
22
Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. 38 8
9727073 1998
23
Spinal cord compression with paraplegia in xanthomatosis due to normocholesterolemic sitosterolemia. 38 8
2241122 1990
24
A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis. 38 8
2394840 1990
25
The presence of 5 alpha-sitostanol in the serum of a patient with phytosterolemia, and its biosynthesis from plant steroids in rats with bile fistula. 38 8
4041477 1985
26
Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis. 38 8
3989379 1985
27
A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia. 38 8
7258222 1981
28
Increased plasma plant sterol concentrations and a heterozygous amino acid exchange in ATP binding cassette transporter ABCG5: a case report. 38 4
21664501 2011
29
A phytosterolemia patient presenting exclusively with macrothrombocytopenia and stomatocytic hemolysis. 38 4
21576934 2011
30
Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism. 38 4
20543520 2010
31
Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children. 38 4
20521169 2010
32
Phytosterolemia in parenteral nutrition patients: implications for liver disease development. 38 4
18656327 2008
33
Long-term efficacy and safety of ezetimibe 10 mg in patients with homozygous sitosterolemia: a 2-year, open-label extension study. 38 4
18822021 2008
34
Mediterranean macrothrombocytopenia and phytosterolaemia/sitosterolaemia. 8
18245645 2008
35
Similar serum plant sterol responses of human subjects heterozygous for a mutation causing sitosterolemia and controls to diets enriched in plant sterols or stanols. 38 4
17228349 2007
36
Sterolins ABCG5 and ABCG8: regulators of whole body dietary sterols. 38 4
16440216 2007
37
Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities. 38 4
17018391 2006
38
Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis. 38 4
16697747 2006
39
Mediterranean stomatocytosis/macrothrombocytopenia: update from Adelaide, Australia. 8
16445847 2006
40
Liver transplantation in a patient with sitosterolemia and cirrhosis. 38 4
16472606 2006
41
Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues. 38 4
16331855 2005
42
Cholesterol and plant sterol absorption: recent insights. 38 4
15992510 2005
43
No association between plasma levels of plant sterols and atherosclerosis in mice and men. 38 4
15514206 2004
44
Disruption of cholesterol homeostasis by plant sterols. 8
15372105 2004
45
A 19-year-old man with myocardial infarction and sitosterolemia. 38 4
12879952 2003
46
Response of obligate heterozygotes for phytosterolemia to a low-fat diet and to a plant sterol ester dietary challenge. 38 4
12671028 2003
47
Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia. 38 4
12124998 2002
48
High-resolution physical and transcript map of human chromosome 2p21 containing the sitosterolaemia locus. 8
11378825 2001
49
Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities. 8
11378826 2001
50
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. 8
11222377 2001

Variations for Sitosterolemia

ClinVar genetic disease variations for Sitosterolemia:

6 (show top 50) (show all 116)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ABCG5 NM_022436.3(ABCG5): c.229G> T (p.Glu77Ter) single nucleotide variant Pathogenic rs119480070 2:44065009-44065009 2:43837870-43837870
2 ABCG8 NM_022437.3(ABCG8): c.1083G> A (p.Trp361Ter) single nucleotide variant Pathogenic rs137852987 2:44099233-44099233 2:43872094-43872094
3 ABCG5 NM_022436.3(ABCG5): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs119479065 2:44051154-44051154 2:43824015-43824015
4 ABCG5 NM_022436.3(ABCG5): c.727C> T (p.Arg243Ter) single nucleotide variant Pathogenic rs119479066 2:44053568-44053568 2:43826429-43826429
5 ABCG5 NM_022436.3(ABCG5): c.1256G> A (p.Arg419His) single nucleotide variant Pathogenic rs119479067 2:44051120-44051120 2:43823981-43823981
6 ABCG5 NM_022436.3(ABCG5): c.1256G> C (p.Arg419Pro) single nucleotide variant Pathogenic rs119479067 2:44051120-44051120 2:43823981-43823981
7 ABCG5 NM_022436.3(ABCG5): c.1166G> A (p.Arg389His) single nucleotide variant Pathogenic rs119480069 2:44051210-44051210 2:43824071-43824071
8 ABCG5 NM_022436.3(ABCG5): c.46C> T (p.Gln16Ter) single nucleotide variant Pathogenic rs387906912 2:44065773-44065773 2:43838634-43838634
9 ABCG5 NM_022436.3(ABCG5): c.1336C> T (p.Arg446Ter) single nucleotide variant Pathogenic rs199689137 2:44050063-44050063 2:43822924-43822924
10 ABCG8 NM_022437.3(ABCG8): c.320C> G (p.Ser107Ter) single nucleotide variant Pathogenic rs137854891 2:44073448-44073448 2:43846309-43846309
11 ABCG8 NM_022437.3(ABCG8): c.547del (p.Gln183fs) deletion Pathogenic rs387906323 2:44078947-44078947 2:43851808-43851808
12 ABCG8 NM_022437.3(ABCG8): c.1234C> T (p.Arg412Ter) single nucleotide variant Pathogenic rs137852991 2:44100948-44100948 2:43873809-43873809
13 ABCG8 NM_022437.3(ABCG8): c.1787T> G (p.Leu596Arg) single nucleotide variant Pathogenic rs137852992 2:44104730-44104730 2:43877591-43877591
14 ABCG8 NM_022437.3(ABCG8): c.691C> A (p.Pro231Thr) single nucleotide variant Pathogenic rs137852993 2:44079622-44079622 2:43852483-43852483
15 ABCG5 NM_022436.3(ABCG5): c.978del (p.Glu326fs) deletion Pathogenic/Likely pathogenic rs869025350 2:44051498-44051498 2:43824359-43824359
16 ABCG8 NM_022437.3(ABCG8): c.1720G> A (p.Gly574Arg) single nucleotide variant Pathogenic/Likely pathogenic rs137852988 2:44102516-44102516 2:43875377-43875377
17 ABCG8 NM_022437.3(ABCG8): c.1974C> G (p.Tyr658Ter) single nucleotide variant Likely pathogenic rs137852989 2:44105004-44105004 2:43877865-43877865
18 ABCG8 NM_022437.3(ABCG8): c.965-1G> A single nucleotide variant Likely pathogenic rs957176669 2:44099114-44099114 2:43871975-43871975
19 ABCG5 ; ABCG8 NM_022437.3(ABCG8): c.55G> C (p.Asp19His) single nucleotide variant risk factor rs11887534 2:44066247-44066247 2:43839108-43839108
20 ABCG8 NM_022437.3(ABCG8): c.965-1G> C single nucleotide variant Conflicting interpretations of pathogenicity rs957176669 2:44099114-44099114 2:43871975-43871975
21 ABCG8 NM_022437.3(ABCG8): c.1645G> A (p.Ala549Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140690030 2:44102441-44102441 2:43875302-43875302
22 ABCG8 NM_022437.3(ABCG8): c.1117T> C (p.Cys373Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs554680915 2:44099267-44099267 2:43872128-43872128
23 ABCG8 NM_022437.3(ABCG8): c.1170G> A (p.Thr390=) single nucleotide variant Conflicting interpretations of pathogenicity rs139902223 2:44099404-44099404 2:43872265-43872265
24 ABCG8 NM_022437.3(ABCG8): c.1203G> A (p.Thr401=) single nucleotide variant Uncertain significance rs886056033 2:44099437-44099437 2:43872298-43872298
25 ABCG5 NM_022436.3(ABCG5): c.281C> G (p.Thr94Arg) single nucleotide variant Uncertain significance rs558993616 2:44059207-44059207 2:43832068-43832068
26 ABCG5 NM_022436.3(ABCG5): c.900C> G (p.Phe300Leu) single nucleotide variant Uncertain significance rs748009304 2:44052032-44052032 2:43824893-43824893
27 ABCG8 NM_022437.3(ABCG8): c.762C> T (p.Thr254=) single nucleotide variant Uncertain significance rs148006993 2:44079805-44079805 2:43852666-43852666
28 ABCG8 NM_022437.3(ABCG8): c.611G> A (p.Arg204His) single nucleotide variant Uncertain significance rs144730815 2:44079542-44079542 2:43852403-43852403
29 ABCG8 NM_022437.3(ABCG8): c.342G> A (p.Leu114=) single nucleotide variant Uncertain significance rs150970273 2:44078742-44078742 2:43851603-43851603
30 ABCG5 NM_022436.3(ABCG5): c.1082C> G (p.Ser361Cys) single nucleotide variant Uncertain significance rs776365033 2:44051394-44051394 2:43824255-43824255
31 ABCG5 NM_022436.3(ABCG5): c.1163C> T (p.Thr388Met) single nucleotide variant Uncertain significance rs149418765 2:44051213-44051213 2:43824074-43824074
32 ABCG8 NM_022437.3(ABCG8): c.1061G> A (p.Arg354His) single nucleotide variant Uncertain significance rs142346631 2:44099211-44099211 2:43872072-43872072
33 ABCG5 NM_022436.3(ABCG5): c.392A> G (p.Tyr131Cys) single nucleotide variant Uncertain significance 2:44059096-44059096 2:43831957-43831957
34 ABCG5 NM_022436.3(ABCG5): c.1325-2A> G single nucleotide variant Uncertain significance 2:44050076-44050076 2:43822937-43822937
35 ABCG5 NM_022436.3(ABCG5): c.1838G> A (p.Cys613Tyr) single nucleotide variant Uncertain significance 2:44040373-44040373 2:43813234-43813234
36 ABCG5 NM_022436.3(ABCG5): c.80G> C (p.Gly27Ala) single nucleotide variant Uncertain significance rs56204478 2:44065739-44065739 2:43838600-43838600
37 ABCG5 NM_022436.3(ABCG5): c.1569C> T (p.Ile523=) single nucleotide variant Uncertain significance rs376969021 2:44047134-44047134 2:43819995-43819995
38 ABCG5 NM_022436.3(ABCG5): c.1411G> A (p.Val471Ile) single nucleotide variant Uncertain significance rs143402711 2:44049988-44049988 2:43822849-43822849
39 ABCG5 NM_022436.3(ABCG5): c.1365C> T (p.Asp455=) single nucleotide variant Uncertain significance rs141016088 2:44050034-44050034 2:43822895-43822895
40 ABCG5 NM_022436.3(ABCG5): c.1180C> T (p.Leu394=) single nucleotide variant Uncertain significance rs771802286 2:44051196-44051196 2:43824057-43824057
41 ABCG5 NM_022436.3(ABCG5): c.1155A> G (p.Ala385=) single nucleotide variant Uncertain significance rs886056028 2:44051221-44051221 2:43824082-43824082
42 ABCG5 NM_022436.2(ABCG5): c.905-3dupT duplication Uncertain significance rs142037828 2:44051574-44051574 2:43824435-43824435
43 ABCG5 NM_022436.3(ABCG5): c.182G> A (p.Arg61Gln) single nucleotide variant Uncertain significance rs149599171 2:44065056-44065056 2:43837917-43837917
44 ABCG5 NM_022436.3(ABCG5): c.27C> T (p.Pro9=) single nucleotide variant Uncertain significance rs72542428 2:44065792-44065792 2:43838653-43838653
45 ABCG8 NM_022437.3(ABCG8): c.-53C> G single nucleotide variant Uncertain significance rs886056032 2:44066140-44066140 2:43839001-43839001
46 ABCG8 NM_022437.3(ABCG8): c.220C> G (p.Pro74Ala) single nucleotide variant Uncertain significance rs373610655 2:44073348-44073348 2:43846209-43846209
47 ABCG8 NM_022437.3(ABCG8): c.275G> A (p.Ser92Asn) single nucleotide variant Uncertain significance rs372921526 2:44073403-44073403 2:43846264-43846264
48 ABCG8 NM_022437.3(ABCG8): c.642G> A (p.Ser214=) single nucleotide variant Uncertain significance rs202198142 2:44079573-44079573 2:43852434-43852434
49 ABCG8 NM_022437.3(ABCG8): c.1568C> T (p.Pro523Leu) single nucleotide variant Uncertain significance rs558635043 2:44102364-44102364 2:43875225-43875225
50 ABCG8 NM_022437.3(ABCG8): c.1675G> T (p.Ala559Ser) single nucleotide variant Uncertain significance rs886056036 2:44102471-44102471 2:43875332-43875332

UniProtKB/Swiss-Prot genetic disease variations for Sitosterolemia:

74 (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

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

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 MTTP HMGCR CYP7A1 APOB ABCG1
2 apical plasma membrane GO:0016324 9.5 NPC1L1 ABCG8 ABCG5
3 brush border membrane GO:0031526 9.26 NPC1L1 MTTP
4 receptor complex GO:0043235 9.13 MTTP ABCG8 ABCG5
5 ATP-binding cassette (ABC) transporter complex GO:0043190 8.62 ABCG8 ABCG5

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 NPC1L1 MTTP HMGCR CYP7A1 APOB
2 response to drug GO:0042493 9.8 NPC1L1 ABCG8 ABCG5
3 steroid metabolic process GO:0008202 9.71 NPC1L1 HMGCR CYP7A1 APOB
4 response to nutrient GO:0007584 9.7 HMGCR ABCG8 ABCG5
5 phospholipid transport GO:0015914 9.62 MTTP ABCG8
6 cholesterol biosynthetic process GO:0006695 9.61 NPC1L1 HMGCR
7 excretion GO:0007588 9.61 ABCG8 ABCG5
8 cholesterol transport GO:0030301 9.61 NPC1L1 APOB ABCG1
9 regulation of cholesterol biosynthetic process GO:0045540 9.6 HMGCR APOB
10 bile acid biosynthetic process GO:0006699 9.59 CYP7A1 CYP27A1
11 sterol metabolic process GO:0016125 9.58 CYP7A1 CYP27A1
12 lipoprotein transport GO:0042953 9.58 MTTP APOB
13 low-density lipoprotein particle remodeling GO:0034374 9.57 APOB ABCG1
14 very-low-density lipoprotein particle assembly GO:0034379 9.56 MTTP APOB
15 cholesterol efflux GO:0033344 9.56 APOB ABCG8 ABCG5 ABCG1
16 chylomicron assembly GO:0034378 9.55 MTTP APOB
17 cholesterol metabolic process GO:0008203 9.55 NPC1L1 HMGCR CYP7A1 APOB ABCG1
18 positive regulation of cholesterol biosynthetic process GO:0045542 9.54 CYP7A1 ABCG1
19 lipoprotein metabolic process GO:0042157 9.54 NPC1L1 MTTP APOB
20 coenzyme A metabolic process GO:0015936 9.51 HMGCR ACAT1
21 intestinal cholesterol absorption GO:0030299 9.5 NPC1L1 ABCG8 ABCG5
22 negative regulation of intestinal phytosterol absorption GO:0010949 9.48 ABCG8 ABCG5
23 negative regulation of intestinal cholesterol absorption GO:0045796 9.46 ABCG8 ABCG5
24 lipid transport GO:0006869 9.43 NPC1L1 MTTP APOB ABCG8 ABCG5 ABCG1
25 cholesterol homeostasis GO:0042632 9.1 MTTP CYP7A1 APOB ABCG8 ABCG5 ABCG1

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 MTTP ABCG8 ABCG5 ABCG1
2 ATPase activity GO:0016887 9.58 ABCG8 ABCG5 ABCG1
3 lipid transporter activity GO:0005319 9.37 MTTP APOB
4 phospholipid transporter activity GO:0005548 9.26 MTTP ABCG1
5 coenzyme binding GO:0050662 9.16 HMGCR ACAT1
6 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.13 ABCG8 ABCG5 ABCG1
7 cholesterol transporter activity GO:0017127 8.92 APOB ABCG8 ABCG5 ABCG1

Sources for Sitosterolemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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