STSL1
MCID: STS010
MIFTS: 48

Sitosterolemia 1 (STSL1)

Categories: Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Sitosterolemia 1

MalaCards integrated aliases for Sitosterolemia 1:

Name: Sitosterolemia 1 57 73 28 5
Phytosterolemia 57 73 5
Stsl1 57 73
Shellfish Sterolemia 73
Stsl 57

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



Summaries for Sitosterolemia 1

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). (210250) (Updated 08-Dec-2022)

MalaCards based summary: Sitosterolemia 1, also known as phytosterolemia, is related to hypercholesterolemia, familial, 1 and sitosterolemia 2. An important gene associated with Sitosterolemia 1 is ABCG8 (ATP Binding Cassette Subfamily G Member 8), and among its related pathways/superpathways are Angiopoietin-like protein 8 regulatory pathway and Disorders of transmembrane transporters. The drugs Ezetimibe and Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include liver, spinal cord and thyroid, and related phenotypes are splenomegaly and anemia

UniProtKB/Swiss-Prot: 73 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 1

Diseases in the Sitosterolemia family:

Sitosterolemia 1 Sitosterolemia 2

Diseases related to Sitosterolemia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial, 1 30.0 ABCG8 ABCG5
2 sitosterolemia 2 29.7 DYNC2LI1 ABCG5
3 sitosterolemia 29.6 DYNC2LI1 ABCG8 ABCG5
4 familial hypercholesterolemia 29.4 ABCG8 ABCG5
5 cholestasis 29.4 ABCG8 ABCG5
6 lipid metabolism disorder 29.2 ABCG8 ABCG5
7 xanthomatosis 10.3
8 splenomegaly 10.2
9 thrombocytopenia 10.1
10 nutritional deficiency disease 10.1
11 hemolytic anemia 10.1
12 liver disease 10.0
13 cerebrotendinous xanthomatosis 9.9
14 ceroid lipofuscinosis, neuronal, 5 9.9
15 leukemia, acute lymphoblastic 3 9.9
16 hypoalphalipoproteinemia, primary, 2 9.9
17 b-lymphoblastic leukemia/lymphoma 9.9
18 primary biliary cholangitis 9.9
19 thrombocytopenia due to platelet alloimmunization 9.9
20 liver cirrhosis 9.9
21 hepatoblastoma 9.9
22 evans' syndrome 9.9
23 lipid storage disease 9.9
24 polyploidy 9.9
25 short-rib thoracic dysplasia 15 with polydactyly 9.8 DYNC2LI1 ABCG5
26 gallbladder disease 4 9.8 ABCG8 ABCG5
27 gallbladder disease 9.8 ABCG8 ABCG5
28 homozygous familial hypercholesterolemia 9.7 ABCG8 ABCG5
29 arcus corneae 9.7 ABCG8 ABCG5
30 corneal degeneration 9.7 ABCG8 ABCG5
31 hypercholesterolemia, familial, 4 9.7 ABCG8 ABCG5
32 cholestasis, progressive familial intrahepatic, 3 9.7 ABCG8 ABCG5
33 hypolipoproteinemia 9.7 ABCG8 ABCG5
34 intrahepatic cholestasis of pregnancy 9.7 ABCG8 ABCG5
35 progressive familial intrahepatic cholestasis 9.7 ABCG8 ABCG5
36 cholelithiasis 9.7 ABCG8 ABCG5
37 niemann-pick disease, type c1 9.7 ABCG8 ABCG5
38 cholestasis, benign recurrent intrahepatic, 1 9.6 ABCG8 ABCG5
39 short-rib thoracic dysplasia 1 with or without polydactyly 9.6 DYNC2LI1 ABCG5
40 tangier disease 9.6 ABCG8 ABCG5
41 bilirubin metabolic disorder 9.5 ABCG8 ABCG5

Graphical network of the top 20 diseases related to Sitosterolemia 1:



Diseases related to Sitosterolemia 1

Symptoms & Phenotypes for Sitosterolemia 1

Human phenotypes related to Sitosterolemia 1:

30 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 30 Very rare (1%) HP:0001744
2 anemia 30 Very rare (1%) HP:0001903
3 thrombocytopenia 30 Very rare (1%) HP:0001873
4 hypercholesterolemia 30 Very rare (1%) HP:0003124
5 reticulocytosis 30 Very rare (1%) HP:0001923
6 coronary artery atherosclerosis 30 Very rare (1%) HP:0001677
7 xanthelasma 30 Very rare (1%) HP:0001114
8 corneal arcus 30 Very rare (1%) HP:0001084
9 stomatocytosis 30 Very rare (1%) HP:0004446
10 carotid artery stenosis 30 Very rare (1%) HP:0100546
11 giant platelets 30 Very rare (1%) HP:0001902
12 reduced haptoglobin level 30 Very rare (1%) HP:0020181
13 increased circulating lactate dehydrogenase concentration 30 Very rare (1%) HP:0025435
14 arthritis 30 HP:0001369
15 abdominal pain 30 HP:0002027
16 arthralgia 30 HP:0002829
17 abnormal bleeding 30 HP:0001892
18 chronic hemolytic anemia 30 HP:0004870
19 episodic hemolytic anemia 30 HP:0004802
20 impaired platelet aggregation 30 HP:0003540
21 hyperapobetalipoproteinemia 30 HP:0008158
22 tuberous xanthoma 30 HP:0031290
23 elevated circulating sitosterol concentration 30 HP:0033341

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Abdomen Spleen:
splenomegaly

Hematology:
reticulocytosis
chronic hemolytic anemia
stomatocytosis
giant platelets
impaired platelet aggregation
more
Head And Neck Eyes:
xanthelasma
arcus corneae

Abdomen:
abdominal pain (1 patient)

Muscle Soft Tissue:
tendinous and tuberous xanthoma

Skeletal Limbs:
arthritis
arthralgia

Cardiovascular Vascular:
atherosclerosis
coronary atherosclerosis
subclavian steal syndrome
carotid bruit

Laboratory Abnormalities:
hyperapobetalipoproteinemia
elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia)
elevated plasma campesterol
elevated plasma stigmasterol
microsomal hmg-coa reductase decreased
more
Abdomen Liver:
cholesterol biosynthesis severely depressed

Clinical features from OMIM®:

210250 (Updated 08-Dec-2022)

Drugs & Therapeutics for Sitosterolemia 1

Drugs for Sitosterolemia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ezetimibe Approved Phase 3 163222-33-1 150311
2 Antimetabolites Phase 3
3 Hypolipidemic Agents Phase 3
4 Anticholesteremic Agents Phase 3
5 Lipid Regulating Agents Phase 3
6 Phytosterol Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Assessment of Cholesterol Metabolism in Heterozygous Phytosterolemia Completed NCT01102647 Phase 1

Search NIH Clinical Center for Sitosterolemia 1

Genetic Tests for Sitosterolemia 1

Genetic tests related to Sitosterolemia 1:

# Genetic test Affiliating Genes
1 Sitosterolemia 1 28 ABCG8

Anatomical Context for Sitosterolemia 1

Organs/tissues related to Sitosterolemia 1:

MalaCards : Liver, Spinal Cord, Thyroid, Heart

Publications for Sitosterolemia 1

Articles related to Sitosterolemia 1:

(show top 50) (show all 170)
# Title Authors PMID Year
1
Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia. 62 57 5
3706300 1986
2
Sitosterolemia: a new mutation in a Mediterranean patient. 57 5
25110228 2014
3
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 57 5
22981120 2012
4
Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots. 57 5
15996216 2005
5
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. 57 5
16029460 2005
6
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 57 5
11099417 2000
7
Hyperapobetalipoproteinaemia in two families with xanthomas and phytosterolaemia. 57 5
6110091 1981
8
Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. 57 5
4360855 1974
9
Compound heterozygous mutations in ABCG5 or ABCG8 causing Chinese familial Sitosterolemia. 62 5
32166861 2020
10
[Clinical features of 20 patients with phytosterolemia causing hematologic abnormalities]. 62 5
31060161 2019
11
Premature atherosclerosis is not systematic in phytosterolemic patients: severe hypercholesterolemia as a confounding factor in five subjects. 62 5
24657386 2014
12
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. 62 5
24166850 2014
13
[Clinical and gene study of three pedigrees of phytosterolemia associated with macrothrombocytopenia and hemolysis]. 62 5
21729603 2011
14
Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases. 62 5
19111681 2009
15
Images in clinical medicine. Phytosterolemia and xanthomatosis. 62 57
12840092 2003
16
Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia. 62 5
12124998 2002
17
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. 62 5
11452359 2001
18
Genetic basis of sitosterolemia. 62 5
11264985 2001
19
Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. 62 5
11138003 2001
20
The presence of 5 alpha-sitostanol in the serum of a patient with phytosterolemia, and its biosynthesis from plant steroids in rats with bile fistula. 62 57
4041477 1985
21
Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program. 5
35549507 2022
22
ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia. 5
32088153 2020
23
Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene. 57
31901240 2020
24
Rare and Deleterious Mutations in ABCG5/ABCG8 Genes Contribute to Mimicking and Worsening of Familial Hypercholesterolemia Phenotype. 5
31327807 2019
25
Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review. 5
30985648 2019
26
First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes. 5
30007774 2018
27
[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia]. 5
29886606 2018
28
Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study. 5
29353225 2018
29
Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form. 5
28739549 2017
30
Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene. 5
28771437 2017
31
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia. 5
28521186 2017
32
A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe. 5
28203044 2017
33
Against all odds: blended phenotypes of three single-gene defects. 5
26813946 2016
34
20-year-old amish woman with abdominal pain, retroperitoneal mass, and hyperlipidemia. 5
25073796 2015
35
Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding. 5
25665839 2015
36
Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. 5
24423340 2014
37
The ABCG8 G574R variant, serum plant sterol levels, and cardiovascular disease risk in the Old Order Amish. 5
23241408 2013
38
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. 5
20719861 2010
39
Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism. 5
20543520 2010
40
Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children. 5
20521169 2010
41
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. 5
20466091 2010
42
Cholesterol homeostasis by the intestine: lessons from Niemann-Pick C1 Like 1 [NPC1L1). 57
18585981 2008
43
Mediterranean macrothrombocytopenia and phytosterolaemia/sitosterolaemia. 57
18245645 2008
44
Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene. 5
17976197 2007
45
Similar serum plant sterol responses of human subjects heterozygous for a mutation causing sitosterolemia and controls to diets enriched in plant sterols or stanols. 5
17228349 2007
46
Mediterranean stomatocytosis/macrothrombocytopenia: update from Adelaide, Australia. 57
16445847 2006
47
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
48
Phenotypic heterogeneity of sitosterolemia. 5
15375183 2004
49
Disruption of cholesterol homeostasis by plant sterols. 57
15372105 2004
50
Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking. 5
15054092 2004

Variations for Sitosterolemia 1

ClinVar genetic disease variations for Sitosterolemia 1:

5 (show top 50) (show all 297)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCG5 NM_022436.3(ABCG5):c.-76C>T SNV Pathogenic
1321322 GRCh37: 2:44065894-44065894
GRCh38: 2:43838755-43838755
2 ABCG8 NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) SNV Pathogenic
4969 rs137852989 GRCh37: 2:44105004-44105004
GRCh38: 2:43877865-43877865
3 ABCG8 NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) SNV Pathogenic
4970 rs137852990 GRCh37: 2:44079831-44079831
GRCh38: 2:43852692-43852692
4 ABCG8 NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter) SNV Pathogenic
Pathogenic
4972 rs137852991 GRCh37: 2:44100948-44100948
GRCh38: 2:43873809-43873809
5 ABCG8 NM_022437.3(ABCG8):c.1787T>G (p.Leu596Arg) SNV Pathogenic
4973 rs137852992 GRCh37: 2:44104730-44104730
GRCh38: 2:43877591-43877591
6 ABCG8 NM_022437.3(ABCG8):c.691C>A (p.Pro231Thr) SNV Pathogenic
4974 rs137852993 GRCh37: 2:44079622-44079622
GRCh38: 2:43852483-43852483
7 ABCG8 NM_022437.3(ABCG8):c.320C>G (p.Ser107Ter) SNV Pathogenic
39520 rs137854891 GRCh37: 2:44073448-44073448
GRCh38: 2:43846309-43846309
8 ABCG8 NM_022437.3(ABCG8):c.904C>T (p.Gln302Ter) SNV Pathogenic
972743 rs1668974150 GRCh37: 2:44079947-44079947
GRCh38: 2:43852808-43852808
9 ABCG8 NM_022437.3(ABCG8):c.556A>T (p.Lys186Ter) SNV Pathogenic
1322575 GRCh37: 2:44078956-44078956
GRCh38: 2:43851817-43851817
10 ABCG8 NM_022437.3(ABCG8):c.361C>T (p.Arg121Ter) SNV Pathogenic
1322586 GRCh37: 2:44078761-44078761
GRCh38: 2:43851622-43851622
11 ABCG8 NM_022437.3(ABCG8):c.120C>A (p.Tyr40Ter) SNV Pathogenic
500779 rs1000291485 GRCh37: 2:44071702-44071702
GRCh38: 2:43844563-43844563
12 ABCG8 NM_022437.3(ABCG8):c.965-1G>C SNV Pathogenic
Uncertain Significance
546173 rs957176669 GRCh37: 2:44099114-44099114
GRCh38: 2:43871975-43871975
13 ABCG8 NM_022437.3(ABCG8):c.881T>G (p.Leu294Ter) SNV Pathogenic
1684427 GRCh37: 2:44079924-44079924
GRCh38: 2:43852785-43852785
14 ABCG8 NM_022437.3(ABCG8):c.1752G>A (p.Trp584Ter) SNV Pathogenic
1698995 GRCh37: 2:44102548-44102548
GRCh38: 2:43875409-43875409
15 ABCG8 NM_022437.3(ABCG8):c.1608G>A (p.Trp536Ter) SNV Pathogenic
499930 rs544500542 GRCh37: 2:44102404-44102404
GRCh38: 2:43875265-43875265
16 ABCG8 NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) SNV Pathogenic
Pathogenic/Likely Pathogenic
4967 rs137852987 GRCh37: 2:44099233-44099233
GRCh38: 2:43872094-43872094
17 ABCG8 NM_022437.3(ABCG8):c.547del (p.Gln183fs) DEL Pathogenic
4971 rs387906323 GRCh37: 2:44078945-44078945
GRCh38: 2:43851806-43851806
18 ABCG5, DYNC2LI1 NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) SNV Pathogenic
Pathogenic
30485 rs199689137 GRCh37: 2:44050063-44050063
GRCh38: 2:43822924-43822924
19 ABCG5, DYNC2LI1 NM_022436.3(ABCG5):c.1166G>A (p.Arg389His) SNV Pathogenic
4980 rs119480069 GRCh37: 2:44051210-44051210
GRCh38: 2:43824071-43824071
20 ABCG5, DYNC2LI1 NM_022436.3(ABCG5):c.751C>T (p.Gln251Ter) SNV Pathogenic
1120119 GRCh37: 2:44053544-44053544
GRCh38: 2:43826405-43826405
21 ABCG5, DYNC2LI1 NM_022436.3(ABCG5):c.1138del (p.Leu379_Val380insTer) DEL Pathogenic
1437547 GRCh37: 2:44051238-44051238
GRCh38: 2:43824099-43824099
22 ABCG5, DYNC2LI1 NM_022436.3(ABCG5):c.1890del (p.Phe630fs) DEL Pathogenic
1684420 GRCh37: 2:44040321-44040321
GRCh38: 2:43813182-43813182
23 ABCG5, DYNC2LI1 NM_022436.3(ABCG5):c.575del (p.Gly192fs) DEL Pathogenic
817282 rs762031825 GRCh37: 2:44055181-44055181
GRCh38: 2:43828042-43828042
24 ABCG5, DYNC2LI1 NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg) SNV Pathogenic
Uncertain Significance
1046346 rs143740796 GRCh37: 2:44051562-44051562
GRCh38: 2:43824423-43824423
25 ABCG8 NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) SNV Pathogenic/Likely Pathogenic
Likely Pathogenic
4968 rs137852988 GRCh37: 2:44102516-44102516
GRCh38: 2:43875377-43875377
26 ABCG5, DYNC2LI1 NM_022436.3(ABCG5):c.978del (p.Glu326fs) DEL Pathogenic/Likely Pathogenic
222478 rs869025350 GRCh37: 2:44051498-44051498
GRCh38: 2:43824359-43824359
27 ABCG8 NM_022437.3(ABCG8):c.562-1G>A SNV Likely Pathogenic
1698806 GRCh37: 2:44079492-44079492
GRCh38: 2:43852353-43852353
28 ABCG8 NM_022437.3(ABCG8):c.965-1G>A SNV Likely Pathogenic
517640 rs957176669 GRCh37: 2:44099114-44099114
GRCh38: 2:43871975-43871975
29 ABCG5 NC_000002.11:g.(?_44047116)_44053814del DEL Likely Pathogenic
1067880 GRCh37:
GRCh38:
30 ABCG5, DYNC2LI1 NM_022436.3(ABCG5):c.634+1G>A SNV Likely Pathogenic
1068115 GRCh37: 2:44055121-44055121
GRCh38: 2:43827982-43827982
31 ABCG5, DYNC2LI1 NM_022436.3(ABCG5):c.1323_1324+2del DEL Likely Pathogenic
1468263 GRCh37: 2:44051050-44051053
GRCh38: 2:43823911-43823914
32 ABCG5, DYNC2LI1 NM_022436.3(ABCG5):c.635-153_1588del DEL Likely Pathogenic
943877 GRCh37: 2:44047115-44053813
GRCh38: 2:43819976-43826674
33 ABCG5, DYNC2LI1 NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) SNV Conflicting Interpretations Of Pathogenicity
Uncertain Significance
284636 rs141828689 GRCh37: 2:44055163-44055163
GRCh38: 2:43828024-43828024
34 ABCG5, DYNC2LI1 NM_022436.3(ABCG5):c.905-3dup DUP Conflicting Interpretations Of Pathogenicity
336045 rs142037828 GRCh37: 2:44051573-44051574
GRCh38: 2:43824434-43824435
35 ABCG8 NM_022437.3(ABCG8):c.342G>A (p.Leu114=) SNV Uncertain Significance
336068 rs150970273 GRCh37: 2:44078742-44078742
GRCh38: 2:43851603-43851603
36 ABCG8 NM_022437.3(ABCG8):c.1212-7T>A SNV Uncertain Significance
501909 rs759300542 GRCh37: 2:44100919-44100919
GRCh38: 2:43873780-43873780
37 ABCG8 NM_022437.3(ABCG8):c.1206G>C (p.Leu402=) SNV Uncertain Significance
895180 rs1041083656 GRCh37: 2:44099440-44099440
GRCh38: 2:43872301-43872301
38 ABCG8 NM_022437.3(ABCG8):c.175G>T (p.Ala59Ser) SNV Uncertain Significance
895098 rs779861537 GRCh37: 2:44073303-44073303
GRCh38: 2:43846164-43846164
39 ABCG5 NM_022436.3(ABCG5):c.281C>G (p.Thr94Arg) SNV Uncertain Significance
Uncertain Significance
336053 rs558993616 GRCh37: 2:44059207-44059207
GRCh38: 2:43832068-43832068
40 ABCG8 NM_022437.3(ABCG8):c.1569A>G (p.Pro523=) SNV Uncertain Significance
336085 rs575386215 GRCh37: 2:44102365-44102365
GRCh38: 2:43875226-43875226
41 ABCG5, DYNC2LI1 NM_022436.3(ABCG5):c.1850C>G (p.Thr617Arg) SNV Uncertain Significance
336035 rs528636525 GRCh37: 2:44040361-44040361
GRCh38: 2:43813222-43813222
42 ABCG8 NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys) SNV Uncertain Significance
Uncertain Significance
291264 rs34754243 GRCh37: 2:44079755-44079755
GRCh38: 2:43852616-43852616
43 ABCG5, DYNC2LI1 NM_022436.3(ABCG5):c.1569C>T (p.Ile523_Val524=) SNV Uncertain Significance
Likely Benign
336037 rs376969021 GRCh37: 2:44047134-44047134
GRCh38: 2:43819995-43819995
44 ABCG8 NM_022437.3(ABCG8):c.1858C>T (p.Leu620Phe) SNV Uncertain Significance
899332 rs746858868 GRCh37: 2:44104801-44104801
GRCh38: 2:43877662-43877662
45 ABCG8 NM_022437.3(ABCG8):c.1743C>A (p.Ser581Arg) SNV Uncertain Significance
899331 rs750730480 GRCh37: 2:44102539-44102539
GRCh38: 2:43875400-43875400
46 ABCG8 NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met) SNV Uncertain Significance
287003 rs140778634 GRCh37: 2:44099244-44099244
GRCh38: 2:43872105-43872105
47 ABCG8 NM_022437.3(ABCG8):c.168G>A (p.Val56=) SNV Uncertain Significance
899217 rs973149684 GRCh37: 2:44073296-44073296
GRCh38: 2:43846157-43846157
48 ABCG8 NM_022437.3(ABCG8):c.76A>G (p.Arg26Gly) SNV Uncertain Significance
498839 rs138925418 GRCh37: 2:44071658-44071658
GRCh38: 2:43844519-43844519
49 ABCG5 NM_022436.3(ABCG5):c.151G>A (p.Val51Met) SNV Uncertain Significance
899153 rs551349294 GRCh37: 2:44065087-44065087
GRCh38: 2:43837948-43837948
50 ABCG5 NM_022436.3(ABCG5):c.207C>G (p.Leu69=) SNV Uncertain Significance
899152 rs866321664 GRCh37: 2:44065031-44065031
GRCh38: 2:43837892-43837892

UniProtKB/Swiss-Prot genetic disease variations for Sitosterolemia 1:

73
# Symbol AA change Variation ID SNP ID
1 ABCG8 p.Arg184His VAR_012252 rs766212636
2 ABCG8 p.Pro231Thr VAR_012253 rs137852993
3 ABCG8 p.Arg263Gln VAR_012256 rs137852990
4 ABCG8 p.Arg405His VAR_012258 rs1177309800
5 ABCG8 p.Leu501Pro VAR_012259 rs1233989408
6 ABCG8 p.Arg543Ser VAR_012260 rs201690654
7 ABCG8 p.Leu572Pro VAR_012262 rs769576789
8 ABCG8 p.Gly574Glu VAR_012263 rs1325979386
9 ABCG8 p.Gly574Arg VAR_012264 rs137852988
10 ABCG8 p.Leu596Arg VAR_012266 rs137852992

Expression for Sitosterolemia 1

Search GEO for disease gene expression data for Sitosterolemia 1.

Pathways for Sitosterolemia 1

GO Terms for Sitosterolemia 1

Cellular components related to Sitosterolemia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical part of cell GO:0045177 9.13 DYNC2LI1 ABCG5
2 ATP-binding cassette (ABC) transporter complex GO:0043190 8.92 ABCG8 ABCG5

Biological processes related to Sitosterolemia 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cholesterol homeostasis GO:0042632 9.83 ABCG8 ABCG5
2 response to nutrient GO:0007584 9.8 ABCG8 ABCG5
3 intermembrane lipid transfer GO:0120009 9.78 ABCG8 ABCG5
4 triglyceride homeostasis GO:0070328 9.76 ABCG8 ABCG5
5 cholesterol efflux GO:0033344 9.73 ABCG8 ABCG5
6 response to muscle activity GO:0014850 9.67 ABCG8 ABCG5
7 sterol transport GO:0015918 9.62 ABCG8 ABCG5
8 bile acid signaling pathway GO:0038183 9.56 ABCG8 ABCG5
9 lipid transport GO:0006869 9.54 ABCG8 ABCG5
10 response to nutrient levels GO:0031667 9.51 ABCG8 ABCG5
11 intestinal cholesterol absorption GO:0030299 9.46 ABCG8 ABCG5
12 organic substance transport GO:0071702 9.4 ABCG5 ABCG8
13 negative regulation of intestinal cholesterol absorption GO:0045796 9.26 ABCG8 ABCG5
14 negative regulation of intestinal phytosterol absorption GO:0010949 8.92 ABCG8 ABCG5

Molecular functions related to Sitosterolemia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase-coupled transmembrane transporter activity GO:0042626 9.46 ABCG8 ABCG5
2 protein dimerization activity GO:0046983 9.26 ABCG8 ABCG5
3 ABC-type transporter activity GO:0140359 9.26 ABCG8 ABCG5
4 cholesterol transfer activity GO:0120020 8.92 ABCG8 ABCG5

Sources for Sitosterolemia 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
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35 IUPHAR
36 LifeMap
38 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
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56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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