Sitosterolemia 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Sitosterolemia 2

MalaCards integrated aliases for Sitosterolemia 2:

Name: Sitosterolemia 2 ⁵⁶ ⁶

Stsl2 ⁵⁶

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Endocrine diseases Gastrointestinal diseases Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618666

OMIM Phenotypic Series ⁵⁶ PS210250

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Summaries for Sitosterolemia 2

OMIM : ⁵⁶ 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). For a general phenotypic description and a discussion of genetic heterogeneity of sitosterolemia, see 210250. (618666)

MalaCards based summary : Sitosterolemia 2, also known as stsl2, is related to gallbladder disease 4 and gallbladder disease. An important gene associated with Sitosterolemia 2 is ABCG5 (ATP Binding Cassette Subfamily G Member 5), and among its related pathways/superpathways are Lipoprotein metabolism and Angiopoietin Like Protein 8 Regulatory Pathway.

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Related Diseases for Sitosterolemia 2

Diseases in the Sitosterolemia family:

Sitosterolemia 1

Sitosterolemia 2

Diseases related to Sitosterolemia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	gallbladder disease 4	9.9	ABCG8 ABCG5
2	gallbladder disease	9.9	ABCG8 ABCG5
3	sitosterolemia 1	9.8	ABCG8 ABCG5
4	homozygous familial hypercholesterolemia	9.8	ABCG8 ABCG5
5	familial hypercholesterolemia	9.8	ABCG8 ABCG5
6	cholestasis, progressive familial intrahepatic, 3	9.8	ABCG8 ABCG5
7	hypolipoproteinemia	9.8	ABCG8 ABCG5
8	hypercholesterolemia, familial, 1	9.8	ABCG8 ABCG5
9	aortic atherosclerosis	9.8	ABCG8 ABCG5
10	progressive familial intrahepatic cholestasis	9.7	ABCG8 ABCG5
11	niemann-pick disease, type c1	9.7	ABCG8 ABCG5
12	cholelithiasis	9.7	ABCG8 ABCG5
13	short-rib thoracic dysplasia 15 with polydactyly	9.6	DYNC2LI1 ABCG5
14	tangier disease	9.5	ABCG8 ABCG5
15	short-rib thoracic dysplasia 1 with or without polydactyly	9.4	DYNC2LI1 ABCG5
16	cholestasis, benign recurrent intrahepatic, 1	9.4	ABCG8 ABCG5
17	sitosterolemia	9.2	DYNC2LI1 ABCG8 ABCG5

Graphical network of the top 20 diseases related to Sitosterolemia 2:

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Symptoms & Phenotypes for Sitosterolemia 2

Clinical features from OMIM:

618666

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Drugs & Therapeutics for Sitosterolemia 2

Search Clinical Trials , NIH Clinical Center for Sitosterolemia 2

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Genetic Tests for Sitosterolemia 2

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Anatomical Context for Sitosterolemia 2

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Publications for Sitosterolemia 2

Articles related to Sitosterolemia 2:

(show all 12)

#	Title	Authors	PMID	Year
1	Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. ⁵⁶ ⁶	Rios J...Cohen JC	20719861	2010
2	Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. ⁵⁶ ⁶	Rees DC...Stewart GW	16029460	2005
3	Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. ⁵⁶ ⁶	Lee MH...Patel SB	11138003	2001
4	Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. ⁵⁶ ⁶	Berge KE...Hobbs HH	11099417	2000
5	Sitosterolemia ⁶	Merkens LS...Mymin D	23556150	2013
6	Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene. ⁶	Mannucci L...Cortese C	17976197	2007
7	Disruption of cholesterol homeostasis by plant sterols. ⁵⁶	Yang C...Hobbs HH	15372105	2004
8	Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8. ⁶	Lu K...Patel SB	11907139	2002
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. ⁵⁶	Lu K...Patel SB	11452359	2001
10	Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities. ⁵⁶	Lee MH...Patel SB	11378826	2001
11	Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. ⁵⁶	Patel SB...Brownstein MJ	9727073	1998
12	Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis. ⁵⁶	Patel SB...Salen G	9610773	1998

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Genes for Sitosterolemia 2

Genes related to Sitosterolemia 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ABCG5	ATP Binding Cassette Subfamily G Member 5	Protein Coding	908.19	Molecular basis known ⁵⁶ Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	16029460 11138003 11099417 (more) 11907139 23556150 20719861 17976197
2	DYNC2LI1	Dynein Cytoplasmic 2 Light Intermediate Chain 1	Protein Coding	8.05	GeneCards inferred via : Variants (show sections)
3	ABCG8	ATP Binding Cassette Subfamily G Member 8	Protein Coding	7.5	GeneCards inferred via : Variants (show sections)

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Variations for Sitosterolemia 2

ClinVar genetic disease variations for Sitosterolemia 2:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ABCG5	NM_022436.3(ABCG5):c.727C>T (p.Arg243Ter)	SNV	Pathogenic	4977	rs119479066	2:44053568-44053568	2:43826429-43826429
2	ABCG5	NM_022436.3(ABCG5):c.1222C>T (p.Arg408Ter)	SNV	Pathogenic	4976	rs119479065	2:44051154-44051154	2:43824015-43824015
3	ABCG5	NM_022436.3(ABCG5):c.1256G>A (p.Arg419His)	SNV	Pathogenic	4978	rs119479067	2:44051120-44051120	2:43823981-43823981
4	ABCG5	NM_022436.3(ABCG5):c.1256G>C (p.Arg419Pro)	SNV	Pathogenic	4979	rs119479067	2:44051120-44051120	2:43823981-43823981
5	ABCG5	NM_022436.3(ABCG5):c.1166G>A (p.Arg389His)	SNV	Pathogenic	4980	rs119480069	2:44051210-44051210	2:43824071-43824071
6	ABCG5	NM_022436.3(ABCG5):c.229G>T (p.Glu77Ter)	SNV	Pathogenic	4981	rs119480070	2:44065009-44065009	2:43837870-43837870
7	ABCG5	NM_022436.3(ABCG5):c.46C>T (p.Gln16Ter)	SNV	Pathogenic	30484	rs387906912	2:44065773-44065773	2:43838634-43838634
8	ABCG5	NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter)	SNV	Pathogenic	30485	rs199689137	2:44050063-44050063	2:43822924-43822924

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Expression for Sitosterolemia 2

Search GEO for disease gene expression data for Sitosterolemia 2.

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Pathways for Sitosterolemia 2

Pathways related to Sitosterolemia 2 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Lipoprotein metabolism ⁶⁵ Show member pathways Chylomicron-mediated lipid transport ⁶⁵ Digestion of dietary lipid ⁶⁵ HDL-mediated lipid transport ⁶⁵ Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis ⁶⁵ LDL-mediated lipid transport ⁶⁵ Lipid digestion, mobilization, and transport ⁶⁵ Reelin signalling pathway ⁶⁵ VLDL biosynthesis ⁶⁵ VLDL interactions ⁶⁵ VLDLR internalisation and degradation ⁶⁵	11.9	ABCG8 ABCG5
2	Angiopoietin Like Protein 8 Regulatory Pathway ¹ Show member pathways Insulin Signaling ¹ Liver X Receptor Pathway ¹	11.8	ABCG8 ABCG5
3	Statin Pathway ¹ Show member pathways Cholesterol metabolism ³⁶ Composition of Lipid Particles ¹ Statin Pathway, Pharmacodynamics ⁶⁰	11.33	ABCG8 ABCG5
4	Bile secretion ³⁶	11.01	ABCG8 ABCG5
5	Vitamin A and Carotenoid Metabolism ¹	10.6	ABCG8 ABCG5
6	Fat digestion and absorption ³⁶ Show member pathways Trafficking of dietary sterols ⁶⁵	10.27	ABCG8 ABCG5

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GO Terms for Sitosterolemia 2

Cellular components related to Sitosterolemia 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	apical plasma membrane	GO:0016324	9.26	ABCG8 ABCG5
2	receptor complex	GO:0043235	9.16	ABCG8 ABCG5
3	apical part of cell	GO:0045177	8.96	DYNC2LI1 ABCG5
4	ATP-binding cassette (ABC) transporter complex	GO:0043190	8.62	ABCG8 ABCG5

Biological processes related to Sitosterolemia 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	response to drug	GO:0042493	9.48	ABCG8 ABCG5
2	lipid transport	GO:0006869	9.46	ABCG8 ABCG5
3	cholesterol homeostasis	GO:0042632	9.43	ABCG8 ABCG5
4	response to nutrient	GO:0007584	9.4	ABCG8 ABCG5
5	excretion	GO:0007588	9.37	ABCG8 ABCG5
6	cholesterol efflux	GO:0033344	9.32	ABCG8 ABCG5
7	intestinal cholesterol absorption	GO:0030299	9.26	ABCG8 ABCG5
8	sterol transport	GO:0015918	9.16	ABCG8 ABCG5
9	negative regulation of intestinal cholesterol absorption	GO:0045796	8.96	ABCG8 ABCG5
10	negative regulation of intestinal phytosterol absorption	GO:0010949	8.62	ABCG8 ABCG5

Molecular functions related to Sitosterolemia 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ATPase activity	GO:0016887	9.16	ABCG8 ABCG5
2	ATPase activity, coupled to transmembrane movement of substances	GO:0042626	8.96	ABCG8 ABCG5
3	intermembrane cholesterol transfer activity	GO:0120020	8.62	ABCG8 ABCG5

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Sources for Sitosterolemia 2

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⁷¹ UMLS

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⁷⁴ Wikipedia

Sitosterolemia 2 (STSL2)

Aliases & Classifications for Sitosterolemia 2

MalaCards integrated aliases for Sitosterolemia 2:

Classifications:

External Ids:

Summaries for Sitosterolemia 2

Related Diseases for Sitosterolemia 2

Diseases in the Sitosterolemia family:

Diseases related to Sitosterolemia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Sitosterolemia 2:

Symptoms & Phenotypes for Sitosterolemia 2

Clinical features from OMIM:

Drugs & Therapeutics for Sitosterolemia 2

Genetic Tests for Sitosterolemia 2

Anatomical Context for Sitosterolemia 2

Publications for Sitosterolemia 2

Articles related to Sitosterolemia 2:

Genes for Sitosterolemia 2

Genes related to Sitosterolemia 2 (1 elite genes):

Variations for Sitosterolemia 2

ClinVar genetic disease variations for Sitosterolemia 2:

Expression for Sitosterolemia 2

Pathways for Sitosterolemia 2

Pathways related to Sitosterolemia 2 according to GeneCards Suite gene sharing:

GO Terms for Sitosterolemia 2

Cellular components related to Sitosterolemia 2 according to GeneCards Suite gene sharing:

Biological processes related to Sitosterolemia 2 according to GeneCards Suite gene sharing:

Molecular functions related to Sitosterolemia 2 according to GeneCards Suite gene sharing:

Sources for Sitosterolemia 2