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 ⁵⁷ ⁷² ²⁹ ⁶

Stsl2 ⁵⁷ ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

HPO:

³¹

sitosterolemia 2:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618666

OMIM Phenotypic Series ⁵⁷ PS210250

MeSH ⁴⁴ D008052

MedGen ⁴¹ C5231453 CN262848

SNOMED-CT via HPO ⁶⁸ 13644009 166830008 258211005 more

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Summaries for Sitosterolemia 2

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). For a general phenotypic description and a discussion of genetic heterogeneity of sitosterolemia, see 210250. (618666) (Updated 20-May-2021)

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. Related phenotypes are hypercholesterolemia and tendon xanthomatosis

UniProtKB/Swiss-Prot : ⁷² Sitosterolemia 2: A form of sitosterolemia, an autosomal recessive metabolic disorder characterized by unregulated intestinal absorption of cholesterol, phytosterols and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. 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.

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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 20)

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

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

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Symptoms & Phenotypes for Sitosterolemia 2

Human phenotypes related to Sitosterolemia 2:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	hypercholesterolemia ³¹	very rare (1%)	HP:0003124
2	tendon xanthomatosis ³¹	very rare (1%)	HP:0010874
3	premature coronary artery atherosclerosis ³¹		HP:0005181
4	elevated circulating sitosterol concentration ³¹		HP:0033341

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Abdomen Spleen:
splenomegaly

Hematology:
thrombocytopenia
hemolytic anemia
reticulocytosis
stomatocytosis
giant platelets
more

Muscle Soft Tissue:
tuberous xanthoma
tendinous xanthoma

Skeletal Limbs:
joint arthralgia

Growth Height:
short stature

Abdomen:
abdominal pain

Laboratory Abnormalities:
elevated plasma campesterol
elevated plasma stigmasterol
elevated plasma beta-sitosterol (sitosterolemia)
hypercholesterolemia (variable)
hyperbilirubinemia, mild

Clinical features from OMIM®:

618666 (Updated 20-May-2021)

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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

Genetic tests related to Sitosterolemia 2:

#	Genetic test	Affiliating Genes
1	Sitosterolemia 2 ²⁹	ABCG5

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Anatomical Context for Sitosterolemia 2

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Publications for Sitosterolemia 2

Articles related to Sitosterolemia 2:

(show all 14)

#	Title	Authors	PMID	Year
1	Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. ⁶ ⁵⁷	Rios J...Cohen JC	20719861	2010
2	Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. ⁶ ⁵⁷	Rees DC...Stewart GW	16029460	2005
3	Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. ⁵⁷ ⁶	Lee MH...Patel SB	11138003	2001
4	Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. ⁵⁷ ⁶	Berge KE...Hobbs HH	11099417	2000
5	Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene. ⁵⁷	Tada H...Kawashiri MA	31901240	2020
6	Cholesterol homeostasis by the intestine: lessons from Niemann-Pick C1 Like 1 [NPC1L1). ⁵⁷	Davis HR...Altmann SW	18585981	2008
7	Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene. ⁶	Mannucci L...Cortese C	17976197	2007
8	Disruption of cholesterol homeostasis by plant sterols. ⁵⁷	Yang C...Hobbs HH	15372105	2004
9	Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8. ⁶	Lu K...Patel SB	11907139	2002
10	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. ⁵⁷	Lu K...Patel SB	11452359	2001
11	Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities. ⁵⁷	Lee MH...Patel SB	11378826	2001
12	Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. ⁵⁷	Patel SB...Brownstein MJ	9727073	1998
13	Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis. ⁵⁷	Patel SB...Salen G	9610773	1998
14	Promising key genes associated with tumor microenvironments and prognosis of hepatocellular carcinoma. ⁶¹	Pan L...Cai XJ	32148377	2020

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Genes for Sitosterolemia 2

Genes related to Sitosterolemia 2 (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ABCG5	ATP Binding Cassette Subfamily G Member 5	Protein Coding	1316.97	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	11099417 11138003
2	DYNC2LI1	Dynein Cytoplasmic 2 Light Intermediate Chain 1	Protein Coding	407.68	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	11099417 11138003
3	ABCG8	ATP Binding Cassette Subfamily G Member 8	Protein Coding	407.13	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	16029460

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Variations for Sitosterolemia 2

ClinVar genetic disease variations for Sitosterolemia 2:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ABCG5 , DYNC2LI1	NM_022436.3(ABCG5):c.1222C>T (p.Arg408Ter)	SNV	Pathogenic	4976	rs119479065	GRCh37: 2:44051154-44051154 GRCh38: 2:43824015-43824015
2	ABCG5 , DYNC2LI1	NM_022436.3(ABCG5):c.727C>T (p.Arg243Ter)	SNV	Pathogenic	4977	rs119479066	GRCh37: 2:44053568-44053568 GRCh38: 2:43826429-43826429
3	ABCG5 , DYNC2LI1	NM_022436.3(ABCG5):c.1256G>A (p.Arg419His)	SNV	Pathogenic	4978	rs119479067	GRCh37: 2:44051120-44051120 GRCh38: 2:43823981-43823981
4	ABCG5 , DYNC2LI1	NM_022436.3(ABCG5):c.1256G>C (p.Arg419Pro)	SNV	Pathogenic	4979	rs119479067	GRCh37: 2:44051120-44051120 GRCh38: 2:43823981-43823981
5	ABCG5 , DYNC2LI1	NM_022436.3(ABCG5):c.1166G>A (p.Arg389His)	SNV	Pathogenic	4980	rs119480069	GRCh37: 2:44051210-44051210 GRCh38: 2:43824071-43824071
6	ABCG5 , ABCG8	NM_022436.3(ABCG5):c.229G>T (p.Glu77Ter)	SNV	Pathogenic	4981	rs119480070	GRCh37: 2:44065009-44065009 GRCh38: 2:43837870-43837870
7	ABCG5 , ABCG8	NM_022436.3(ABCG5):c.46C>T (p.Gln16Ter)	SNV	Pathogenic	30484	rs387906912	GRCh37: 2:44065773-44065773 GRCh38: 2:43838634-43838634
8	ABCG5 , DYNC2LI1	NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter)	SNV	Pathogenic	30485	rs199689137	GRCh37: 2:44050063-44050063 GRCh38: 2:43822924-43822924

UniProtKB/Swiss-Prot genetic disease variations for Sitosterolemia 2:

⁷²

#	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

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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	11.11	ABCG8 ABCG5
5	Fat digestion and absorption ³⁶ Show member pathways Trafficking of dietary sterols ⁶⁵	10.62	ABCG8 ABCG5
6	Vitamin A and Carotenoid Metabolism ¹	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:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	response to drug	GO:0042493	9.55	ABCG8 ABCG5
2	lipid transport	GO:0006869	9.54	ABCG8 ABCG5
3	cholesterol homeostasis	GO:0042632	9.52	ABCG8 ABCG5
4	response to nutrient	GO:0007584	9.51	ABCG8 ABCG5
5	response to nutrient levels	GO:0031667	9.49	ABCG8 ABCG5
6	intermembrane lipid transfer	GO:0120009	9.48	ABCG8 ABCG5
7	triglyceride homeostasis	GO:0070328	9.46	ABCG8 ABCG5
8	excretion	GO:0007588	9.43	ABCG8 ABCG5
9	cholesterol efflux	GO:0033344	9.4	ABCG8 ABCG5
10	response to muscle activity	GO:0014850	9.37	ABCG8 ABCG5
11	sterol transport	GO:0015918	9.32	ABCG8 ABCG5
12	bile acid signaling pathway	GO:0038183	9.26	ABCG8 ABCG5
13	intestinal cholesterol absorption	GO:0030299	9.16	ABCG8 ABCG5
14	negative regulation of intestinal cholesterol absorption	GO:0045796	8.96	ABCG8 ABCG5
15	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	protein heterodimerization activity	GO:0046982	9.26	ABCG8 ABCG5
2	ATPase activity	GO:0016887	9.16	ABCG8 ABCG5
3	ATPase activity, coupled to transmembrane movement of substances	GO:0042626	8.96	ABCG8 ABCG5
4	intermembrane cholesterol transfer activity	GO:0120020	8.62	ABCG8 ABCG5

Sources

Sources for Sitosterolemia 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Sitosterolemia 2 (STSL2)

Aliases & Classifications for Sitosterolemia 2

MalaCards integrated aliases for Sitosterolemia 2:

Characteristics:

OMIM®:

HPO:

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

Human phenotypes related to Sitosterolemia 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Sitosterolemia 2

Genetic Tests for Sitosterolemia 2

Genetic tests related to 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 (3 elite genes):

Variations for Sitosterolemia 2

ClinVar genetic disease variations for Sitosterolemia 2:

UniProtKB/Swiss-Prot 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