MCID: STS003
MIFTS: 54

Sitosterolemia malady

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

Aliases & Classifications for Sitosterolemia

About this section
Sources:
49OMIM, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Sitosterolemia:

Name: Sitosterolemia 49 11 21 45 22 23 47 51 67 24 65
Phytosterolemia 21 45 22 23 51 67
Beta-Sitosterolemia 21 22 23
Plant Sterol Storage Disease 45 23
Phytosterolaemia 22 23
Sitosterolaemia 22 23
Retention of Dietary Cholesterol and Abnormal Retention of Non-Cholesterol Sterols in the Body 45
 
Sitosterolemia with Xanthomatosis 65
Xanthomatosis with Sisterolemia 51
Shellfish Sterolemia 67
Phytosterolæmia 21
Sitosterolæmia 21
Stsl 67

Characteristics:

Orphanet epidemiological data:

51
sitosterolemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages

HPO:

61
sitosterolemia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 210250
Orphanet51 2882
ICD10 via Orphanet28 E78.0
MESH via Orphanet37 C537345
UMLS via Orphanet66 C0342907
UMLS65 C0342907, C0268202

Summaries for Sitosterolemia

About this section
NIH Rare Diseases:45 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. last updated: 4/12/2016

MalaCards based summary: Sitosterolemia, also known as phytosterolemia, is related to cerebrotendinous xanthomatosis and hypoplastic left heart syndrome, and has symptoms including hyperapobetalipoproteinemia, coronary atherosclerosis and chronic hemolytic anemia. An important gene associated with Sitosterolemia is ABCG8 (ATP Binding Cassette Subfamily G Member 8), and among its related pathways are Vitamin A and carotenoid metabolism and Bisphosphonate Pathway, Pharmacodynamics. Affiliated tissues include liver, testes and skin, and related mouse phenotypes are liver/biliary system and growth/size/body region.

UniProtKB/Swiss-Prot:67 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.

Genetics Home Reference:23 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.

OMIM:49 Sitosterolemia, also known as phytosterolemia, is an autosomal recessive metabolic condition characterized by... (210250) more...

Wikipedia:68 Sitosterolemia (also known as \"Phytosterolemia\") is a rare autosomal recessively inherited lipid... more...

GeneReviews summary for NBK131810

Related Diseases for Sitosterolemia

About this section

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

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1cerebrotendinous xanthomatosis30.5CYP27A1, CYP7A1, HMGCR
2hypoplastic left heart syndrome10.3
3root caries10.3
4cerebritis10.3
5dystonia10.3
6torsion dystonia10.3
7arteriovenous fistula10.3ABCG5, ABCG8
8deficiency of n-glycanase 110.3APOB, HMGCR
9hepatitis10.3
10thyroiditis10.3
11hyperphenilalaninemia due to pterin-4-alpha-carbin10.2APOB, HMGCR
12corneal ulcer10.2APOB, HMGCR
13keratitis10.2
14ptosis10.2
15heart disease10.2
16thrombocytosis10.2
17vernal conjunctivitis10.2
18conjunctivitis10.2
19cardiomyopathy10.2
20porencephaly10.2ABCG8, APOB
21rheumatoid arthritis10.2
22ataxia-telangiectasia10.2
23arthritis10.2
24gastric cancer10.2
25hyperparathyroidism10.2
26hepatitis c10.2
27ataxia10.2
28fatal post-viral neurodegenerative disorder10.2APOB, HMGCR
29pericardium disease10.1ABCG5, ABCG8, APOB
30melanoacanthoma10.1APOB, HMGCR
31colorectal cancer10.0
32hiv-110.0
33prostate cancer10.0
34hepatitis c virus10.0
35tetralogy of fallot10.0
36peutz-jeghers syndrome10.0
37lipoprotein glomerulopathy10.0
38alcohol abuse10.0
39chronic lymphocytic leukemia10.0
40glomerulonephritis10.0
41hematopoietic stem cell transplantation10.0
42hemolytic anemia10.0
43hereditary spastic paraplegia10.0
44leukemia10.0
45osteonecrosis10.0
46familial adenomatous polyposis10.0
47photosensitive epilepsy10.0
48primary hyperparathyroidism10.0
49orbital cellulitis10.0
50choroiditis10.0

Graphical network of the top 20 diseases related to Sitosterolemia:



Diseases related to sitosterolemia

Symptoms for Sitosterolemia

About this section

Symptoms by clinical synopsis from OMIM:

210250

Clinical features from OMIM:

210250

HPO human phenotypes related to Sitosterolemia:

(show all 16)
id Description Frequency HPO Source Accession
1 hyperapobetalipoproteinemia HP:0008158
2 coronary atherosclerosis HP:0004929
3 chronic hemolytic anemia HP:0004870
4 episodic hemolytic anemia HP:0004802
5 stomatocytosis HP:0004446
6 impaired platelet aggregation HP:0003540
7 hypercholesterolemia HP:0003124
8 arthralgia HP:0002829
9 abdominal pain HP:0002027
10 reticulocytosis HP:0001923
11 giant platelets HP:0001902
12 abnormal bleeding HP:0001892
13 splenomegaly HP:0001744
14 abnormality of the integument HP:0001574
15 abnormality of the liver HP:0001392
16 arthritis HP:0001369

Drugs & Therapeutics for Sitosterolemia

About this section

Drugs for Sitosterolemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EzetimibeapprovedPhase 3, Phase 2266163222-33-1150311
Synonyms:
(-)-Sch 58235
(1-(4-fluorophenyl)-(3R)-(3-(4-fluorophenyl)-(3S)-hydroxypropyl)-(4S)-(4-hydroxyphenyl)-2-azetidinone)
(3R,4S)-1-(4-fluorophenyl)-3-[(3S)-3-(4-fluorophenyl)-3-hydroxypropyl]-4-(4-hydroxyphenyl)azetidin-2-one
(3R,4S)-1-(p-Fluorophenyl)-3-((3S)-3-(p-fluorophenyl)-3-hydroxypropyl)-4-(p-hydroxyphenyl)-2-azetidinone
1-(4-fluorophenyl)-3(R)-[3-(4-fluorophenyl)-3(S)-(4-hydroxyphenyl)-2-azetidione
1-(4-fluorophenyl)-3(R)-[3-(4-fluorophenyl)-3(S)-hydroxypropyl]-4(S)-(4-hydroxyphenyl)-2-azetidinone
163222-33-1
AC-1057
AC1L442L
C108606
CHEBI:49040
CHEMBL1138
CID150311
CPD000466334
D01966
DB00973
Essex brand of ezetimibe
Ezedoc
Ezetimiba
Ezetimibe
Ezetimibe (JAN/USAN/INN)
Ezetimibe [USAN:INN]
Ezetimibum
 
Ezetrol
HMS2051K16
LS-181801
MK-0653
MLS000759443
MLS001424125
MSD brand of ezetimibe
Merck brand of ezetimibe
MolPort-005-938-627
S1655_Selleck
SAM001246623
SCH-58235
SCH58235
SMR000466334
STK640490
STOCK6S-73750
Sch 58235
Schering-Plough brand of ezetimibe
UNII-EOR26LQQ24
ZINC03810860
Zetia
Zetia (TN)
Zetia , Ezetrol, Ezetimibe
Zient
ezetimib
2Anticholesteremic AgentsPhase 3, Phase 21732
3Gamma-sitosterolPhase 3, Phase 25
4Hypolipidemic AgentsPhase 3, Phase 22228
5AntimetabolitesPhase 3, Phase 29454
6PhytosterolNutraceuticalPhase 193
7Insulin, Globin Zinc4278
8insulin4278
9Contraceptives, Oral3734
10Colesevelam Hydrochloride44

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Higher-Dose Ezetimibe to Treat Homozygous SitosterolemiaCompletedNCT00099996Phase 3
2An Investigational Drug Study to Lower Non-Cholesterol Sterol Levels Associated With Sitosterolemia (0653-062)(COMPLETED)CompletedNCT00092898Phase 3
3Sitosterolemia Extension Study (0653-003)(COMPLETED)CompletedNCT00092807Phase 3
4Sitosterolemia Extension Study (0653-004)(COMPLETED)CompletedNCT00092820Phase 3
5Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED)TerminatedNCT00092833Phase 3
6SCH-58235 (Ezetimibe) to Treat Homozygous SitosterolemiaCompletedNCT00045812Phase 2
7Cholesterol Metabolism in Heterozygous PhytosterolemiaCompletedNCT01102647Phase 1
8Genetic Study of SitosterolemiaCompletedNCT00004481
9The Effect of Dietary Sitosterol on Blood Sugar and CholesterolCompletedNCT00531128
10A 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)CompletedNCT00705211
11A 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)CompletedNCT00704444
12Sitosterolemia MetabolismActive, not recruitingNCT01584206
13Effects of ColesevelamNot yet recruitingNCT01948648

Search NIH Clinical Center for Sitosterolemia

Genetic Tests for Sitosterolemia

About this section

Genetic tests related to Sitosterolemia:

id Genetic test Affiliating Genes
1 Sitosterolemia22 ABCG8

Anatomical Context for Sitosterolemia

About this section

MalaCards organs/tissues related to Sitosterolemia:

33
Liver, Testes, Skin, Heart, Breast, Neutrophil, Endothelial

Animal Models for Sitosterolemia or affiliated genes

About this section

MGI Mouse Phenotypes related to Sitosterolemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053707.1ABCG1, ABCG5, ABCG8, APOB, CYP27A1, CYP7A1
2MP:00053787.1ABCG1, ABCG5, APOB, CYP7A1, FDFT1, HMGCR
3MP:00053766.6ABCG1, ABCG5, ABCG8, APOB, CYP27A1, CYP7A1

Publications for Sitosterolemia

About this section

Articles related to Sitosterolemia:

(show top 50)    (show all 79)
idTitleAuthorsYear
1
Influenza vaccine and egg allergy: nearing the end of an evidence-based journey. (25577641)
2015
2
Massive Upper Gastrointestinal Bleeding from a Splenic Artery Pseudoaneurysm Caused by a Penetrating Gastric Ulcer: Case Report and Review of Literature. (26309450)
2015
3
MUC1-C Induces the LIN28Ba89LET-7a89HMGA2 Axis to Regulate Self-Renewal in NSCLC. (25368430)
2015
4
SLC24A5 and ASIP as phenotypic predictors in Brazilian population for forensic purposes. (25801600)
2015
5
An earring incidentally diagnosed and removed through two-step vaginoscopy in a pubertal virgin girl with miliary tuberculosis. (24589427)
2014
6
Cyclin E1 (CCNE1) as independent positive prognostic factor in advanced stage serous ovarian cancer patients - A study of the OVCAD consortium. (24176298)
2014
7
Frequency of Structural Brain Abnormalities among Adult Diagnosed with Attention - Deficit/Hyperactivity Disorder. (24373266)
2014
8
Sensitivity and specificity of a hand-held milk electrical conductivity meter compared to the California mastitis test for mastitis in dairy cattle. (22981736)
2013
9
New diphtheria toxin repressor types depicted in a Romanian collection of Corynebacterium diphtheriae isolates. (24293345)
2013
10
Calnexin controls the STAT3-mediated transcriptional response to EGF. (23932718)
2013
11
Right atrial to left atrial area ratio on early echocardiography predicts long-term survival after acute pulmonary embolism. (23725312)
2013
12
Role of dehydroepiandrosterone and cortisol in nociceptive sensitivity to thermal pain in anorexia nervosa and healthy women. (22936264)
2012
13
n-Butyl benzyl phthalate promotes breast cancer progression by inducing expression of lymphoid enhancer factor 1. (22905168)
2012
14
Otoscopic findings in otosclerosis. (22522365)
2012
15
Family-based study of association between ENPP1 genetic variants and craniofacial morphology. (20446819)
2010
16
Effect of plasma fibrinogen level-based defibrase therapy in patients with acute cerebral infarction]. (19861283)
2009
17
High CSF transforming growth factor beta levels after subarachnoid haemorrhage: association with chronic communicating hydrocephalus. (19066194)
2009
18
Decorin suppresses bone metastasis in a breast cancer cell line. (19590249)
2009
19
Expression of matrix metalloproteinase-1 mRNA in peripheral blood mononuclear cells of systemic lupus erythematosus patients and its relationship with atherosclerosis. (19951575)
2009
20
New oral anticoagulants. Consequences for perioperative coagulation diagnostics and therapy]. (19823782)
2009
21
Interleukin-1 receptor antagonist and incident depressive symptoms over 6 years in older persons: the InCHIANTI study. (19111279)
2009
22
Human leukocyte antigen-A, -B, and -DRB1 haplotypes of cord blood units in the Tzu Chi Taiwan Cord Blood Bank. (18582515)
2008
23
Shwachman-Diamond syndrome in a child presenting with cystic fibrosis-type symptoms and a false-positive sweat test. (18607018)
2008
24
Can E-cadherin and CD34 be used as indicators of prognosis for hepatocellular carcinoma patients? (18724809)
2008
25
Interaction between single nucleotide polymorphisms in selenoprotein P and mitochondrial superoxide dismutase determines prostate cancer risk. (19074884)
2008
26
Foraminal stenosis with radiculopathy from a cervical disc herniation in a 33-year-old man treated with flexion distraction decompression manipulation. (18558279)
2008
27
SUMO modification of human XRCC4 regulates its localization and function in DNA double-strand break repair. (16478998)
2006
28
Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX. (16717225)
2006
29
Circulating levels of sex steroid hormones and risk of endometrial cancer in postmenopausal women. (14648710)
2004
30
The expanding roles of ABCA4 and CRB1 in inherited blindness. (14750597)
2004
31
Dual role of PKA in phenotypic modulation of vascular smooth muscle cells by extracellular ATP. (15238360)
2004
32
Expression of osteoprotegerin correlates with aggressiveness and poor prognosis of gastric carcinoma. (12838418)
2003
33
Evaluation of the serum L-dopa/L-tyrosine ratio as a melanoma marker. (14646622)
2003
34
Effect of hypoproteic diets enriched with essential and non-essential amino acids on the uninephrectomized rat ]. (12216496)
2002
35
Genetic study of 20 patients with autism disorders]. (12238024)
2002
36
Cetirizine and levocetirizine inhibit eotaxin-induced eosinophil transendothelial migration through human dermal or lung microvascular endothelial cells. (12190657)
2002
37
Hunter disease in a girl caused by R468Q mutation in the iduronate-2- sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele. (9375851)
1997
38
Immunoglobulin A reaction to oral streptococci in saliva of subjects with different combinations of caries and levels of mutans streptococci. (9467389)
1997
39
Kir6.1: a possible subunit of ATP-sensitive K+ channels in mitochondria. (9434770)
1997
40
pop-1 encodes an HMG box protein required for the specification of a mesoderm precursor in early C. elegans embryos. (7585963)
1995
41
Interleukin 1 beta enhances the response of rabbit synovial fibroblasts in vitro to dexamethasone injury: implication for the role of increased nuclear hypersensitive sites and the number of dexamethasone receptors. (8035382)
1994
42
Congenital nephrosis of the Finnish type (CNF): matrix components of the glomerular basement membranes and of cultured mesangial cells. (7693621)
1993
43
Gene expressions of type IV collagenase and tissue inhibitor of metalloproteinases (TIMP) in human bladder cancers]. (8320889)
1993
44
Listeria meningitis in Cairo, Egypt: case report. (2134097)
1990
45
Pressures recorded in ulnar neuropathy. (3000129)
1985
46
Ruptured abdominal aortic aneurysm diagnosed by computerized axial tomography. (7217800)
1981
47
The use of endoscopy in the surgical treatment of the Mallory-Weiss syndrome. (638449)
1978
48
Pulmonary blastoma. (5571477)
1971
49
Duodenal obstruction in the newborn. (15390726)
1949
50
Case of Urticaria Pigmentosa without Mast Cells. (19984279)
1925

Variations for Sitosterolemia

About this section

UniProtKB/Swiss-Prot genetic disease variations for Sitosterolemia:

67 (show all 16)
id Symbol AA change Variation ID SNP ID
1ABCG5p.Glu146GlnVAR_012244
2ABCG5p.Arg389HisVAR_012245
3ABCG5p.Arg419HisVAR_012246
4ABCG5p.Arg419ProVAR_012247
5ABCG5p.Arg550SerVAR_012248
6ABCG5p.Asn437LysVAR_020781
7ABCG8p.Arg184HisVAR_012252
8ABCG8p.Pro231ThrVAR_012253
9ABCG8p.Arg263GlnVAR_012256rs137852990
10ABCG8p.Arg405HisVAR_012258
11ABCG8p.Leu501ProVAR_012259
12ABCG8p.Arg543SerVAR_012260rs201690654
13ABCG8p.Leu572ProVAR_012262
14ABCG8p.Gly574GluVAR_012263
15ABCG8p.Gly574ArgVAR_012264
16ABCG8p.Leu596ArgVAR_012266

Clinvar genetic disease variations for Sitosterolemia:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_022436.2(ABCG5): c.978delA (p.Glu326Aspfs)deletionLikely pathogenicrs869025350GRCh38Chr 2, 43824359: 43824359
2NM_022436.2(ABCG5): c.46C> T (p.Gln16Ter)single nucleotide variantPathogenicrs387906912GRCh37Chr 2, 44065773: 44065773
3NM_022436.2(ABCG5): c.1336C> T (p.Arg446Ter)single nucleotide variantPathogenicrs199689137GRCh37Chr 2, 44050063: 44050063
4ABCG8NM_022437.2(ABCG8): c.320C> G (p.Ser107Ter)single nucleotide variantPathogenicrs137854891GRCh37Chr 2, 44073448: 44073448
5ABCG8NM_022437.2(ABCG8): c.1083G> A (p.Trp361Ter)single nucleotide variantPathogenicrs137852987GRCh37Chr 2, 44099233: 44099233
6ABCG8NM_022437.2(ABCG8): c.1720G> A (p.Gly574Arg)single nucleotide variantPathogenicrs137852988GRCh37Chr 2, 44102516: 44102516
7ABCG8NM_022437.2(ABCG8): c.1974C> G (p.Tyr658Ter)single nucleotide variantPathogenicrs137852989GRCh37Chr 2, 44105004: 44105004
8ABCG8NM_022437.2(ABCG8): c.788G> A (p.Arg263Gln)single nucleotide variantPathogenicrs137852990GRCh37Chr 2, 44079831: 44079831
9ABCG8NM_022437.2(ABCG8): c.547delC (p.Gln183Serfs)deletionPathogenicrs387906323GRCh37Chr 2, 44078947: 44078947
10ABCG8NM_022437.2(ABCG8): c.1234C> T (p.Arg412Ter)single nucleotide variantPathogenicrs137852991GRCh37Chr 2, 44100948: 44100948
11ABCG8NM_022437.2(ABCG8): c.1787T> G (p.Leu596Arg)single nucleotide variantPathogenicrs137852992GRCh37Chr 2, 44104730: 44104730
12ABCG8NM_022437.2(ABCG8): c.691C> A (p.Pro231Thr)single nucleotide variantPathogenicrs137852993GRCh37Chr 2, 44079622: 44079622
13NM_022436.2(ABCG5): c.1222C> T (p.Arg408Ter)single nucleotide variantPathogenicrs119479065GRCh37Chr 2, 44051154: 44051154
14NM_022436.2(ABCG5): c.727C> T (p.Arg243Ter)single nucleotide variantPathogenicrs119479066GRCh37Chr 2, 44053568: 44053568
15NM_022436.2(ABCG5): c.1256G> A (p.Arg419His)single nucleotide variantPathogenicrs119479067GRCh37Chr 2, 44051120: 44051120
16NM_022436.2(ABCG5): c.1256G> C (p.Arg419Pro)single nucleotide variantPathogenicrs119479067GRCh37Chr 2, 44051120: 44051120
17NM_022436.2(ABCG5): c.1166G> A (p.Arg389His)single nucleotide variantPathogenicrs119480069GRCh37Chr 2, 44051210: 44051210
18NM_022436.2(ABCG5): c.229G> T (p.Glu77Ter)single nucleotide variantPathogenicrs119480070GRCh37Chr 2, 44065009: 44065009

Expression for genes affiliated with Sitosterolemia

About this section
Search GEO for disease gene expression data for Sitosterolemia.

Pathways for genes affiliated with Sitosterolemia

About this section

Pathways related to Sitosterolemia according to GeneCards Suite gene sharing:

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9ABCG5, ABCG8
29.5FDFT1, HMGCR
3
Show member pathways
9.3ABCG1, ABCG5, ABCG8
49.3ABCG1, ABCG5, CYP7A1
59.1ABCG5, ABCG8, CYP7A1, HMGCR
6
Show member pathways
9.0ACAT1, FDFT1, HMGCR
78.6ABCG5, ABCG8, APOB, MTTP
8
Show member pathways
8.6ACAT1, CYP7A1, FDFT1, HMGCR
9
Show member pathways
8.1ABCG1, ABCG5, ABCG8, APOB, MTTP
10
Show member pathways
7.3ABCG5, ABCG8, APOB, CYP7A1, FDFT1, HMGCR
11
Show member pathways
5.8ABCG1, ABCG5, ABCG8, ACAT1, APOB, CYP27A1

GO Terms for genes affiliated with Sitosterolemia

About this section

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of intestinal cholesterol absorptionGO:004579610.5ABCG5, ABCG8
2response to nutrientGO:000758410.0ABCG5, ABCG8
3phospholipid transportGO:00159149.7ABCG8, MTTP
4sterol metabolic processGO:00161259.6CYP27A1, CYP7A1
5lipid transportGO:00068699.4APOB, MTTP
6cholesterol homeostasisGO:00426329.4ABCG8, MTTP
7cholesterol effluxGO:00333449.2ABCG1, ABCG5, ABCG8, APOB
8cellular lipid metabolic processGO:00442559.1CYP7A1, FDFT1, HMGCR

Sources for Sitosterolemia

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet