MCID: STS003
MIFTS: 53

Sitosterolemia

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

Aliases & Classifications for Sitosterolemia

MalaCards integrated aliases for Sitosterolemia:

Name: Sitosterolemia 12 74 24 52 25 36 29 54 6 43 15 39 71
Phytosterolemia 12 24 52 25
Plant Sterol Storage Disease 52 25
Beta-Sitosterolemia 24 25
Retention of Dietary Cholesterol and Abnormal Retention of Non-Cholesterol Sterols in the Body 52
Sitosterolemia with Xanthomatosis 71
Phytosterolaemia 25
Phytosterolæmia 24
Sitosterolaemia 25
Sitosterolæmia 24

Classifications:



External Ids:

Disease Ontology 12 DOID:0090019
KEGG 36 H00152
MeSH 43 C537345
NCIt 49 C125694
UMLS 71 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 sitosterolemia 1 and sitosterolemia 2, 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 liver, and related phenotypes are Decreased viability and Decreased viability

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 : 52 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.

KEGG : 36 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.

Wikipedia : 74 Sitosterolemia is a rare autosomal recessively inherited lipid metabolic disorder. It is characterized... more...

GeneReviews: NBK131810

Related Diseases for Sitosterolemia

Diseases in the Sitosterolemia family:

Sitosterolemia 1 Sitosterolemia 2

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

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 sitosterolemia 1 34.9 ABCG8 ABCG5
2 sitosterolemia 2 34.7 DYNC2LI1 ABCG8 ABCG5
3 cerebrotendinous xanthomatosis 32.9 HMGCR CYP7A1 CYP27A1
4 xanthomatosis 31.0 LDLRAP1 HMGCR CYP7A1 CYP27A1 APOB ABCA1
5 lipid storage disease 30.9 CYP7A1 CYP27A1 APOB
6 smith-lemli-opitz syndrome 30.5 HMGCR FDFT1 CYP27A1 ABCA1
7 hypercholesterolemia, familial, 1 30.4 PCSK9 LDLRAP1 HMGCR CYP7A1 APOB APOA1
8 cholestasis 30.2 CYP7A1 CYP27A1 ABCB4 ABCB11
9 coronary heart disease 1 30.1 HMGCR APOB APOA1 ABCA1
10 vascular disease 29.9 PCSK9 HMGCR APOB APOA1 ABCA1
11 lipid metabolism disorder 29.8 PCSK9 MTTP HMGCR CYP7A1 APOB APOA1
12 inherited metabolic disorder 29.6 PCSK9 MTTP HMGCR APOB APOA1 ABCA1
13 atherosclerosis susceptibility 29.4 SOAT1 PCSK9 HMGCR APOB APOA1 ABCG5
14 familial hypercholesterolemia 29.3 SOAT1 PCSK9 MTTP LDLRAP1 HMGCR CYP7A1
15 homozygous familial hypercholesterolemia 29.2 PCSK9 LDLRAP1 HMGCR APOB APOA1 ABCG8
16 autosomal recessive disease 10.6
17 gallbladder disease 4 10.5 ABCG8 ABCG5
18 short-rib thoracic dysplasia 15 with polydactyly 10.5 DYNC2LI1 ABCG5
19 hemolytic anemia 10.5
20 familial combined hyperlipoproteinemia 10.4 APOB APOA1
21 schnyder corneal dystrophy 10.4 SOAT1 HMGCR APOB
22 hypobetalipoproteinemia, familial, 2 10.4 PCSK9 APOB
23 aortic atherosclerosis 10.4 ABCG8 ABCG5 ABCA1
24 defective apolipoprotein b-100 10.3 PCSK9 HMGCR APOB
25 liver cirrhosis 10.3
26 splenomegaly 10.3
27 liver disease 10.3
28 sea-blue histiocyte disease 10.3 PCSK9 LDLRAP1 ABCG8
29 leukodystrophy, hypomyelinating, 3 10.3 APOB APOA1
30 hyperlipoproteinemia, type iv 10.3 APOB APOA1
31 corneal degeneration 10.3 PCSK9 LDLRAP1 APOB
32 hyperlipoproteinemia, type v 10.3 HMGCR APOB APOA1
33 hypoalphalipoproteinemia 10.3 APOA1 ABCA1
34 thrombocytopenia 10.2
35 chylomicron retention disease 10.2 MTTP APOB APOA1
36 pericholangitis 10.2 ABCB4 ABCB11
37 autosomal dominant non-syndromic intellectual disability 3 10.2 ABCB4 ABCB11
38 bile acid synthesis defect, congenital, 3 10.2 CYP7A1 CYP27A1
39 cholestasis, progressive familial intrahepatic, 4 10.2 ABCB4 ABCB11
40 huntington disease-like 1 10.2 APOB APOA1 ABCA1
41 cholesterol ester storage disease 10.2 NPC1L1 LDLRAP1
42 cholelithiasis 10.2 CYP7A1 ABCG8 ABCG5 ABCB4
43 hyperalphalipoproteinemia 1 10.2 APOB APOA1 ABCA1
44 extrahepatic cholestasis 10.2 CYP7A1 ABCB4 ABCB11
45 intermediate coronary syndrome 10.2 PCSK9 APOB APOA1
46 myocardial infarction 10.2
47 thrombocytopenia due to platelet alloimmunization 10.2
48 paraplegia 10.2
49 cryptogenic cirrhosis 10.2
50 ichthyosis, congenital, autosomal recessive 4a 10.2 APOA1 ABCA1

Graphical network of the top 20 diseases related to Sitosterolemia:



Diseases related to Sitosterolemia

Symptoms & Phenotypes for Sitosterolemia

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 viability GR00381-A-1 9.98 DYNC2LI1
2 Decreased viability GR00402-S-2 9.98 ABCA1 ABCB11 ABCB4 ABCG1 ABCG4 ABCG5
3 Decreased free cholesterol GR00340-A-2 9.7 ABCA1 ABCG8 APOA1 APOB HMGCR LDLRAP1
4 no effect GR00402-S-1 9.62 ABCA1 ABCB11 ABCB4 ABCG1 ABCG4 ABCG5

MGI Mouse Phenotypes related to Sitosterolemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 ABCA1 ABCB4 ABCG5 APOA1 APOB CYP27A1
2 growth/size/body region MP:0005378 9.97 ABCA1 ABCB11 ABCB4 ABCG1 ABCG5 APOB
3 homeostasis/metabolism MP:0005376 9.91 ABCA1 ABCB11 ABCB4 ABCG1 ABCG4 ABCG5
4 digestive/alimentary MP:0005381 9.8 ABCA1 ABCB4 ABCG5 ABCG8 CYP27A1 CYP7A1
5 liver/biliary system MP:0005370 9.5 ABCA1 ABCB11 ABCB4 ABCG1 ABCG5 ABCG8

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 163222-33-1 150311
2 Phytosterol Phase 3
3 Gamma-sitosterol Phase 3
4 Hypolipidemic Agents Phase 3
5 Anticholesteremic Agents Phase 3
6 Antimetabolites Phase 3
7 Lipid Regulating 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

Cochrane evidence based reviews: sitosterolemia

Genetic Tests for Sitosterolemia

Genetic tests related to Sitosterolemia:

# Genetic test Affiliating Genes
1 Sitosterolemia 29 ABCG8

Anatomical Context for Sitosterolemia

MalaCards organs/tissues related to Sitosterolemia:

40
Heart, Skin, Liver, Bone, Testes, Spinal Cord, Small Intestine

Publications for Sitosterolemia

Articles related to Sitosterolemia:

(show top 50) (show all 311)
# Title Authors PMID Year
1
Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases. 54 61 24
19111681 2009
2
Phenotypic heterogeneity of sitosterolemia. 54 61 24
15375183 2004
3
Phytosterolemia on the island of Kosrae: founder effect for a novel ABCG8 mutation results in high carrier rate and increased plasma plant sterol levels. 54 61 24
15210841 2004
4
Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia. 54 61 24
14769702 2004
5
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. 54 61 24
11668628 2001
6
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. 54 61 24
11452359 2001
7
Genetic basis of sitosterolemia. 54 61 24
11264985 2001
8
Increased plasma plant sterol concentrations and a heterozygous amino acid exchange in ATP binding cassette transporter ABCG5: a case report. 61 24
21664501 2011
9
A phytosterolemia patient presenting exclusively with macrothrombocytopenia and stomatocytic hemolysis. 61 24
21576934 2011
10
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. 61 24
20719861 2010
11
Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism. 61 24
20543520 2010
12
Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children. 61 24
20521169 2010
13
Phytosterolemia in parenteral nutrition patients: implications for liver disease development. 61 24
18656327 2008
14
Long-term efficacy and safety of ezetimibe 10 mg in patients with homozygous sitosterolemia: a 2-year, open-label extension study. 61 24
18822021 2008
15
Similar serum plant sterol responses of human subjects heterozygous for a mutation causing sitosterolemia and controls to diets enriched in plant sterols or stanols. 61 24
17228349 2007
16
Sterolins ABCG5 and ABCG8: regulators of whole body dietary sterols. 61 24
16440216 2007
17
Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities. 61 24
17018391 2006
18
Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis. 61 24
16697747 2006
19
Liver transplantation in a patient with sitosterolemia and cirrhosis. 61 24
16472606 2006
20
Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues. 61 24
16331855 2005
21
Cholesterol and plant sterol absorption: recent insights. 61 24
15992510 2005
22
No association between plasma levels of plant sterols and atherosclerosis in mice and men. 61 24
15514206 2004
23
A 19-year-old man with myocardial infarction and sitosterolemia. 61 24
12879952 2003
24
Response of obligate heterozygotes for phytosterolemia to a low-fat diet and to a plant sterol ester dietary challenge. 61 24
12671028 2003
25
Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia. 61 24
12124998 2002
26
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 61 24
11099417 2000
27
Coronary bypass grafts in a young girl with sitosterolemia. 61 24
8781841 1996
28
Unexpected failure of bile acid malabsorption to stimulate cholesterol synthesis in sitosterolemia with xanthomatosis. Comparison with lovastatin. 61 24
2317163 1990
29
The effect of abnormal plasma and cellular sterol content and composition on low density lipoprotein uptake and degradation by monocytes and lymphocytes in sitosterolemia with xanthomatosis. 61 24
3357417 1988
30
Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis. 61 24
4067433 1985
31
Beta-sitosterolemia and xanthomatosis. 61 24
1246333 1976
32
Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. 61 24
4360855 1974
33
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 24
22981120 2012
34
Effects of long-term parenteral nutrition on serum lipids, plant sterols, cholesterol metabolism, and liver histology in pediatric intestinal failure. 24
21543999 2011
35
The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia. 54 61
19846887 2010
36
Efficacy and safety of ezetimibe 40 mg vs. ezetimibe 10 mg in the treatment of patients with homozygous sitosterolaemia. 24
18484971 2008
37
Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis. 24
18441155 2008
38
Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia. 54 61
18156627 2008
39
Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene. 24
17976197 2007
40
ATP-binding cassette, subfamily G (ABCG family). 54 61
16983557 2007
41
Regulation of intestinal cholesterol absorption. 54 61
17002594 2007
42
Co-expression of human ABCG5 and ABCG8 in insect cells generates an androstan stimulated membrane ATPase activity. 54 61
17055487 2006
43
Purification and ATP hydrolysis of the putative cholesterol transporters ABCG5 and ABCG8. 54 61
16893193 2006
44
A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans. 54 61
16507104 2006
45
Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots. 24
15996216 2005
46
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. 24
16029460 2005
47
Sterol transporters: targets of natural sterols and new lipid lowering drugs. 54 61
15737409 2005
48
Localization of ABCG5 and ABCG8 proteins in human liver, gall bladder and intestine. 54 61
15383151 2004
49
Polymorphisms in the ABCG5 and ABCG8 genes associate with cholesterol absorption and insulin sensitivity. 54 61
15175352 2004
50
Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking. 54 61
15054092 2004

Variations for Sitosterolemia

ClinVar genetic disease variations for Sitosterolemia:

6 (show top 50) (show all 103) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCG8 NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)SNV Pathogenic 4967 rs137852987 2:44099233-44099233 2:43872094-43872094
2 ABCG8 NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter)SNV Pathogenic 4972 rs137852991 2:44100948-44100948 2:43873809-43873809
3 ABCG5 NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter)SNV Pathogenic 30485 rs199689137 2:44050063-44050063 2:43822924-43822924
4 ABCG8 NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)SNV Pathogenic/Likely pathogenic 4968 rs137852988 2:44102516-44102516 2:43875377-43875377
5 ABCG5 NM_022436.3(ABCG5):c.978del (p.Glu326fs)deletion Pathogenic/Likely pathogenic 222478 rs869025350 2:44051498-44051498 2:43824359-43824359
6 ABCG5 , ABCG8 NM_022437.3(ABCG8):c.55G>C (p.Asp19His)SNV risk factor 4975 rs11887534 2:44066247-44066247 2:43839108-43839108
7 ABCG8 NM_022437.3(ABCG8):c.965-1G>ASNV Likely pathogenic 517640 rs957176669 2:44099114-44099114 2:43871975-43871975
8 ABCG8 NM_022437.3(ABCG8):c.965-1G>CSNV Conflicting interpretations of pathogenicity 546173 rs957176669 2:44099114-44099114 2:43871975-43871975
9 ABCG8 NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu)SNV Conflicting interpretations of pathogenicity 500519 rs150654176 2:44099394-44099394 2:43872255-43872255
10 ABCG8 NM_022437.3(ABCG8):c.1170G>A (p.Thr390=)SNV Conflicting interpretations of pathogenicity 336076 rs139902223 2:44099404-44099404 2:43872265-43872265
11 ABCG8 NM_022437.3(ABCG8):c.94A>G (p.Ser32Gly)SNV Conflicting interpretations of pathogenicity 336063 rs148370122 2:44071676-44071676 2:43844537-43844537
12 ABCG5 NM_022436.3(ABCG5):c.1365C>T (p.Asp455=)SNV Conflicting interpretations of pathogenicity 336039 rs141016088 2:44050034-44050034 2:43822895-43822895
13 ABCG5 NM_022436.3(ABCG5):c.27C>T (p.Pro9=)SNV Conflicting interpretations of pathogenicity 336057 rs72542428 2:44065792-44065792 2:43838653-43838653
14 ABCG5 NM_022436.3(ABCG5):c.905-6dupduplication Conflicting interpretations of pathogenicity 336045 rs142037828 2:44051573-44051574 2:43824434-43824435
15 ABCG8 NM_022437.3(ABCG8):c.1782C>T (p.Ser594=)SNV Conflicting interpretations of pathogenicity 336090 rs139835626 2:44104725-44104725 2:43877586-43877586
16 ABCG8 NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser)SNV Conflicting interpretations of pathogenicity 198901 rs144200355 2:44099435-44099435 2:43872296-43872296
17 ABCG8 NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr)SNV Conflicting interpretations of pathogenicity 281519 rs140690030 2:44102441-44102441 2:43875302-43875302
18 ABCG5 NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala)SNV Conflicting interpretations of pathogenicity 283529 rs56204478 2:44065739-44065739 2:43838600-43838600
19 ABCG5 NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)SNV Conflicting interpretations of pathogenicity 284636 rs141828689 2:44055163-44055163 2:43828024-43828024
20 ABCG8 NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr)SNV Conflicting interpretations of pathogenicity 288467 rs113005049 2:44104954-44104954 2:43877815-43877815
21 ABCG5 NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)SNV Conflicting interpretations of pathogenicity 290953 rs144973796 2:44041634-44041634 2:43814495-43814495
22 ABCG8 NM_022437.3(ABCG8):c.1941C>G (p.Val647=)SNV Conflicting interpretations of pathogenicity 289084 rs147991100 2:44104971-44104971 2:43877832-43877832
23 ABCG8 NM_022437.3(ABCG8):c.1506G>A (p.Pro502=)SNV Conflicting interpretations of pathogenicity 336083 rs145756111 2:44102302-44102302 2:43875163-43875163
24 ABCG8 NM_022437.3(ABCG8):c.1785C>T (p.Phe595=)SNV Conflicting interpretations of pathogenicity 336091 rs139677898 2:44104728-44104728 2:43877589-43877589
25 ABCG5 NM_022436.3(ABCG5):c.775-10G>TSNV Conflicting interpretations of pathogenicity 336049 rs114549158 2:44052167-44052167 2:43825028-43825028
26 ABCG8 NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg)SNV Conflicting interpretations of pathogenicity 336075 rs554680915 2:44099267-44099267 2:43872128-43872128
27 ABCG8 NM_022437.3(ABCG8):c.1210del (p.Arg404fs)deletion Uncertain significance 336078 rs886056034 2:44099443-44099443 2:43872304-43872304
28 ABCG8 NM_022437.3(ABCG8):c.1489-15G>ASNV Uncertain significance 336082 rs886056035 2:44102270-44102270 2:43875131-43875131
29 ABCG8 NM_022437.3(ABCG8):c.*141T>GSNV Uncertain significance 336094 rs886056037 2:44105193-44105193 2:43878054-43878054
30 ABCG8 NM_022437.3(ABCG8):c.*523_*531deldeletion Uncertain significance 336096 rs886056039 2:44105572-44105580 2:43878433-43878441
31 ABCG5 NM_022436.3(ABCG5):c.*592G>ASNV Uncertain significance 336026 rs151005348 2:44039663-44039663 2:43812524-43812524
32 ABCG5 NM_022436.3(ABCG5):c.*511C>ASNV Uncertain significance 336028 rs547604287 2:44039744-44039744 2:43812605-43812605
33 ABCG5 NM_022436.3(ABCG5):c.610G>A (p.Ala204Thr)SNV Uncertain significance 336051 rs765266332 2:44055146-44055146 2:43828007-43828007
34 ABCG5 NM_022436.3(ABCG5):c.570G>A (p.Leu190=)SNV Uncertain significance 336052 rs886056030 2:44055186-44055186 2:43828047-43828047
35 ABCG8 NM_022437.3(ABCG8):c.36G>A (p.Pro12=)SNV Uncertain significance 336061 rs368998235 2:44066228-44066228 2:43839089-43839089
36 ABCG5 NM_022436.3(ABCG5):c.*285G>CSNV Uncertain significance 336033 rs114868704 2:44039970-44039970 2:43812831-43812831
37 ABCG5 NM_022436.3(ABCG5):c.1850C>G (p.Thr617Arg)SNV Uncertain significance 336035 rs528636525 2:44040361-44040361 2:43813222-43813222
38 ABCG5 NM_022436.3(ABCG5):c.803T>A (p.Phe268Tyr)SNV Uncertain significance 336047 rs770103215 2:44052129-44052129 2:43824990-43824990
39 ABCG8 NM_022437.3(ABCG8):c.*96deldeletion Uncertain significance 336093 rs4148229 2:44105147-44105147 2:43878008-43878008
40 ABCG8 NM_022437.3(ABCG8):c.*206C>TSNV Uncertain significance 336095 rs886056038 2:44105258-44105258 2:43878119-43878119
41 ABCG5 NM_022436.3(ABCG5):c.*621C>TSNV Uncertain significance 336025 rs144987434 2:44039634-44039634 2:43812495-43812495
42 ABCG5 NM_022436.3(ABCG5):c.1258G>A (p.Val420Ile)SNV Uncertain significance 336040 rs747481748 2:44051118-44051118 2:43823979-43823979
43 ABCG5 NM_022436.3(ABCG5):c.715G>A (p.Ala239Thr)SNV Uncertain significance 336050 rs886056029 2:44053580-44053580 2:43826441-43826441
44 ABCG5 NM_022436.3(ABCG5):c.266G>C (p.Gly89Ala)SNV Uncertain significance 336054 rs886056031 2:44059222-44059222 2:43832083-43832083
45 ABCG5 NM_022436.3(ABCG5):c.39G>T (p.Met13Ile)SNV Uncertain significance 336056 rs572875739 2:44065780-44065780 2:43838641-43838641
46 ABCG8 NM_022437.3(ABCG8):c.1569A>G (p.Pro523=)SNV Uncertain significance 336085 rs575386215 2:44102365-44102365 2:43875226-43875226
47 ABCG8 NM_022437.3(ABCG8):c.1470T>C (p.Gly490=)SNV Uncertain significance 336081 rs775837092 2:44101604-44101604 2:43874465-43874465
48 ABCG8 NM_022437.3(ABCG8):c.1736A>T (p.Asn579Ile)SNV Uncertain significance 336088 rs767847167 2:44102532-44102532 2:43875393-43875393
49 ABCG8 NM_022437.3(ABCG8):c.1756+15C>TSNV Uncertain significance 336089 rs78577353 2:44102567-44102567 2:43875428-43875428
50 ABCG8 NM_022437.3(ABCG8):c.1106A>T (p.Asp369Val)SNV Uncertain significance 290382 rs148185316 2:44099256-44099256 2:43872117-43872117

Expression for Sitosterolemia

Search GEO for disease gene expression data for Sitosterolemia.

Pathways for Sitosterolemia

Pathways related to Sitosterolemia according to KEGG:

36
# Name Kegg Source Accession
1 ABC transporters hsa02010

Pathways related to Sitosterolemia according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 SOAT1 PCSK9 NPC1L1 MTTP LDLRAP1 HMGCR
2
Show member pathways
12.72 HMGCR FDFT1 CYP7A1 APOA1 ACAT1 ABCB4
3
Show member pathways
12.23 SOAT1 PCSK9 NPC1L1 MTTP LDLRAP1 APOB
4
Show member pathways
11.75 HMGCR FDFT1 ACAT1
5 11.7 HMGCR CYP7A1 ABCG8 ABCG5 ABCB4 ABCB11
6 11.55 CYP7A1 CYP27A1 APOA1
7
Show member pathways
11.54 SOAT1 PCSK9 MTTP LDLRAP1 HMGCR FDFT1
8
Show member pathways
11.34 NPC1L1 MTTP APOB APOA1 ABCG8 ABCG5
9 11.3 NPC1L1 ABCG8 ABCG5
10 11.28 CYP7A1 ABCG5 ABCG1 ABCB4 ABCB11 ABCA1
11 10.91 CYP7A1 ABCB4 ABCB11
12 10.89 APOA1 ABCG1 ABCA1
13 10.82 HMGCR ABCA1
14 10.74 CYP7A1 ABCB11

GO Terms for Sitosterolemia

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.29 PCSK9 NPC1L1 LDLRAP1 APOB APOA1 ABCG8
2 apical plasma membrane GO:0016324 9.83 NPC1L1 ABCG8 ABCG5 ABCB4
3 endoplasmic reticulum lumen GO:0005788 9.8 PCSK9 MTTP APOB APOA1
4 early endosome GO:0005769 9.71 PCSK9 LDLRAP1 APOB APOA1
5 endoplasmic reticulum GO:0005783 9.56 SOAT1 PCSK9 MTTP HMGCR FDFT1 CYP7A1
6 very-low-density lipoprotein particle GO:0034361 9.54 APOB APOA1
7 apical part of cell GO:0045177 9.54 DYNC2LI1 ABCG5 ABCB11
8 endocytic vesicle lumen GO:0071682 9.48 APOB APOA1
9 low-density lipoprotein particle GO:0034362 9.46 APOB APOA1
10 chylomicron GO:0042627 9.43 APOB APOA1
11 intercellular canaliculus GO:0046581 9.32 ABCB4 ABCB11
12 ATP-binding cassette (ABC) transporter complex GO:0043190 9.26 ABCG8 ABCG5
13 endoplasmic reticulum membrane GO:0005789 9.17 SOAT1 HMGCR FDFT1 CYP7A1 APOB ABCG1
14 intermediate-density lipoprotein particle GO:0034363 9.16 APOB APOA1

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

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.13 APOA1 ABCG8 ABCG5 ABCG4 ABCG1 ABCB4
2 response to drug GO:0042493 10.03 NPC1L1 APOA1 ABCG8 ABCG5 ABCA1
3 lipid transport GO:0006869 10.02 NPC1L1 MTTP APOB APOA1 ABCG8 ABCG5
4 cholesterol homeostasis GO:0042632 10 SOAT1 PCSK9 MTTP LDLRAP1 CYP7A1 APOB
5 regulation of lipid metabolic process GO:0019216 9.93 HMGCR FDFT1 CYP7A1 APOA1 ABCB4 ABCA1
6 cholesterol efflux GO:0033344 9.92 SOAT1 APOB APOA1 ABCG8 ABCG5 ABCG4
7 lipoprotein metabolic process GO:0042157 9.91 PCSK9 NPC1L1 MTTP APOB APOA1 ABCA1
8 steroid metabolic process GO:0008202 9.9 SOAT1 PCSK9 NPC1L1 LDLRAP1 HMGCR FDFT1
9 response to nutrient GO:0007584 9.89 HMGCR APOA1 ABCG8 ABCG5 ABCA1
10 cholesterol transport GO:0030301 9.88 NPC1L1 LDLRAP1 APOB APOA1 ABCG1 ABCA1
11 phospholipid transport GO:0015914 9.85 MTTP APOA1 ABCG8 ABCA1
12 cholesterol biosynthetic process GO:0006695 9.84 NPC1L1 HMGCR FDFT1 APOA1
13 steroid biosynthetic process GO:0006694 9.83 HMGCR FDFT1 CYP27A1
14 regulation of cholesterol biosynthetic process GO:0045540 9.8 HMGCR FDFT1 APOB
15 bile acid biosynthetic process GO:0006699 9.8 CYP7A1 CYP27A1 ABCB11
16 reverse cholesterol transport GO:0043691 9.78 APOA1 ABCG1 ABCA1
17 low-density lipoprotein particle clearance GO:0034383 9.78 SOAT1 PCSK9 LDLRAP1 APOB
18 positive regulation of cholesterol efflux GO:0010875 9.77 APOA1 ABCG1 ABCA1
19 phospholipid homeostasis GO:0055091 9.77 APOA1 ABCG1 ABCA1
20 phospholipid efflux GO:0033700 9.76 APOA1 ABCG1 ABCA1
21 very-low-density lipoprotein particle assembly GO:0034379 9.75 SOAT1 MTTP APOB
22 chylomicron assembly GO:0034378 9.74 MTTP APOB APOA1
23 intestinal cholesterol absorption GO:0030299 9.73 NPC1L1 ABCG8 ABCG5
24 cholesterol metabolic process GO:0008203 9.73 SOAT1 PCSK9 NPC1L1 LDLRAP1 HMGCR FDFT1
25 cellular response to cholesterol GO:0071397 9.69 CYP7A1 ABCA1
26 high-density lipoprotein particle remodeling GO:0034375 9.69 APOA1 ABCG1
27 lipoprotein transport GO:0042953 9.69 MTTP APOB
28 lipoprotein biosynthetic process GO:0042158 9.69 APOB APOA1 ABCA1
29 high-density lipoprotein particle assembly GO:0034380 9.68 APOA1 ABCA1
30 low-density lipoprotein particle remodeling GO:0034374 9.68 APOB ABCG1
31 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.68 ABCG1 ABCA1
32 cholesterol catabolic process GO:0006707 9.68 CYP7A1 CYP27A1
33 protein lipidation GO:0006497 9.67 MTTP ABCA1
34 intracellular cholesterol transport GO:0032367 9.67 ABCG1 ABCA1
35 positive regulation of cholesterol biosynthetic process GO:0045542 9.67 CYP7A1 ABCG1
36 chylomicron remodeling GO:0034371 9.66 APOB APOA1
37 negative regulation of cholesterol storage GO:0010887 9.66 ABCG1 ABCA1
38 sterol transport GO:0015918 9.65 ABCG8 ABCG5
39 regulation of Cdc42 protein signal transduction GO:0032489 9.65 APOA1 ABCA1
40 coenzyme A metabolic process GO:0015936 9.64 HMGCR ACAT1
41 cholesterol esterification GO:0034435 9.64 SOAT1 ACAT1
42 negative regulation of intestinal cholesterol absorption GO:0045796 9.62 ABCG8 ABCG5
43 negative regulation of intestinal phytosterol absorption GO:0010949 9.61 ABCG8 ABCG5
44 lipid metabolic process GO:0006629 9.47 SOAT1 PCSK9 NPC1L1 MTTP LDLRAP1 HMGCR

Molecular functions related to Sitosterolemia according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10.09 ABCG8 ABCG5 ABCG4 ABCG1 ABCB4 ABCB11
2 protein heterodimerization activity GO:0046982 9.89 MTTP ABCG8 ABCG5 ABCG4 ABCG1
3 ATPase activity GO:0016887 9.8 ABCG8 ABCG5 ABCG4 ABCG1 ABCB4 ABCB11
4 phospholipid binding GO:0005543 9.7 APOB APOA1 ABCG1
5 cholesterol binding GO:0015485 9.67 SOAT1 APOA1 ABCG1 ABCA1
6 lipid transporter activity GO:0005319 9.62 MTTP APOB APOA1 ABCA1
7 low-density lipoprotein particle receptor binding GO:0050750 9.61 PCSK9 LDLRAP1 APOB
8 apolipoprotein binding GO:0034185 9.58 PCSK9 MTTP ABCA1
9 phospholipid transporter activity GO:0005548 9.55 MTTP APOA1 ABCG1 ABCB4 ABCA1
10 high-density lipoprotein particle binding GO:0008035 9.54 APOA1 ABCA1
11 coenzyme binding GO:0050662 9.51 HMGCR ACAT1
12 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.5 ABCG8 ABCG5 ABCG4 ABCG1 ABCB4 ABCB11
13 phosphatidylcholine-translocating ATPase activity GO:0090554 9.48 ABCB4 ABCA1
14 apolipoprotein receptor binding GO:0034190 9.46 PCSK9 APOA1
15 intermembrane cholesterol transfer activity GO:0120020 9.1 APOB APOA1 ABCG8 ABCG5 ABCG1 ABCA1

Sources for Sitosterolemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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