STSL2
MCID: STS011
MIFTS: 34

Sitosterolemia 2 (STSL2)

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

Aliases & Classifications for Sitosterolemia 2

MalaCards integrated aliases for Sitosterolemia 2:

Name: Sitosterolemia 2 57 73 29 6
Stsl2 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
sitosterolemia 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618666
OMIM Phenotypic Series 57 PS210250
MeSH 44 D008052
MedGen 41 CN262848

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 05-Mar-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 : 73 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.

Related Diseases for Sitosterolemia 2

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



Diseases related to Sitosterolemia 2

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 05-Mar-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 05-Mar-2021)

Drugs & Therapeutics for Sitosterolemia 2

Search Clinical Trials , NIH Clinical Center for Sitosterolemia 2

Genetic Tests for Sitosterolemia 2

Genetic tests related to Sitosterolemia 2:

# Genetic test Affiliating Genes
1 Sitosterolemia 2 29 ABCG5

Anatomical Context for Sitosterolemia 2

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
20719861 2010
2
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. 57 6
16029460 2005
3
Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. 6 57
11138003 2001
4
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 57 6
11099417 2000
5
Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene. 57
31901240 2020
6
Cholesterol homeostasis by the intestine: lessons from Niemann-Pick C1 Like 1 [NPC1L1). 57
18585981 2008
7
Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene. 6
17976197 2007
8
Disruption of cholesterol homeostasis by plant sterols. 57
15372105 2004
9
Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8. 6
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
11452359 2001
11
Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities. 57
11378826 2001
12
Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. 57
9727073 1998
13
Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis. 57
9610773 1998
14
Promising key genes associated with tumor microenvironments and prognosis of hepatocellular carcinoma. 61
32148377 2020

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.1222C>T (p.Arg408Ter) SNV Pathogenic 4976 rs119479065 2:44051154-44051154 2:43824015-43824015
2 ABCG5 NM_022436.3(ABCG5):c.727C>T (p.Arg243Ter) SNV Pathogenic 4977 rs119479066 2:44053568-44053568 2:43826429-43826429
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

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

73
# 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

Expression for Sitosterolemia 2

Search GEO for disease gene expression data for Sitosterolemia 2.

Pathways for Sitosterolemia 2

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 for Sitosterolemia 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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