STSL1
MCID: STS010
MIFTS: 46

Sitosterolemia 1 (STSL1)

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

Aliases & Classifications for Sitosterolemia 1

MalaCards integrated aliases for Sitosterolemia 1:

Name: Sitosterolemia 1 57 72 29 6
Phytosterolemia 57 72 6
Stsl1 57 72
Shellfish Sterolemia 72
Stsl 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
sitosterolemia 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sitosterolemia 1

UniProtKB/Swiss-Prot : 72 Sitosterolemia 1: 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.

MalaCards based summary : Sitosterolemia 1, also known as phytosterolemia, is related to hypercholesterolemia, familial, 1 and sitosterolemia. An important gene associated with Sitosterolemia 1 is ABCG8 (ATP Binding Cassette Subfamily G Member 8), and among its related pathways/superpathways are Lipoprotein metabolism and Angiopoietin Like Protein 8 Regulatory Pathway. The drugs Ezetimibe and Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver and spinal cord, and related phenotypes are splenomegaly and arthritis

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 20-May-2021)

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 29.8 ABCG8 ABCG5
2 sitosterolemia 29.5 DYNC2LI1 ABCG8 ABCG5
3 hemolytic anemia 29.3 ABCG8 ABCG5
4 familial hypercholesterolemia 29.2 ABCG8 ABCG5
5 sitosterolemia 2 29.1 DYNC2LI1 ABCG8 ABCG5
6 xanthomatosis 10.3
7 splenomegaly 10.1
8 thrombocytopenia 10.1
9 lipid metabolism disorder 10.0
10 liver disease 10.0
11 autosomal recessive disease 9.9
12 atrial standstill 1 9.8
13 cerebrotendinous xanthomatosis 9.8
14 stroke, ischemic 9.8
15 deficiency anemia 9.8
16 b-lymphoblastic leukemia/lymphoma 9.8
17 primary biliary cholangitis 9.8
18 neutropenia 9.8
19 cholestasis 9.8
20 thrombocytopenia due to platelet alloimmunization 9.8
21 liver cirrhosis 9.8
22 infertility 9.8
23 hepatoblastoma 9.8
24 evans' syndrome 9.8
25 lipid storage disease 9.8
26 polyploidy 9.8
27 short-rib thoracic dysplasia 15 with polydactyly 9.8 DYNC2LI1 ABCG5
28 gallbladder disease 4 9.8 ABCG8 ABCG5
29 gallbladder disease 9.8 ABCG8 ABCG5
30 arcus corneae 9.7 ABCG8 ABCG5
31 cholestasis, progressive familial intrahepatic, 3 9.7 ABCG8 ABCG5
32 hypolipoproteinemia 9.7 ABCG8 ABCG5
33 cholestasis, progressive familial intrahepatic, 2 9.7 ABCG8 ABCG5
34 aortic atherosclerosis 9.7 ABCG8 ABCG5
35 cholelithiasis 9.7 ABCG8 ABCG5
36 cholestasis, progressive familial intrahepatic, 1 9.7 ABCG8 ABCG5
37 progressive familial intrahepatic cholestasis 9.7 ABCG8 ABCG5
38 tangier disease 9.7 ABCG8 ABCG5
39 homozygous familial hypercholesterolemia 9.7 ABCG8 ABCG5
40 cholestasis, benign recurrent intrahepatic, 1 9.6 ABCG8 ABCG5
41 short-rib thoracic dysplasia 1 with or without polydactyly 9.6 DYNC2LI1 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:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 arthritis 31 HP:0001369
3 abdominal pain 31 HP:0002027
4 arthralgia 31 HP:0002829
5 hypercholesterolemia 31 HP:0003124
6 abnormal bleeding 31 HP:0001892
7 abnormality of the liver 31 HP:0001392
8 reticulocytosis 31 HP:0001923
9 coronary artery atherosclerosis 31 HP:0001677
10 stomatocytosis 31 HP:0004446
11 chronic hemolytic anemia 31 HP:0004870
12 episodic hemolytic anemia 31 HP:0004802
13 giant platelets 31 HP:0001902
14 impaired platelet aggregation 31 HP:0003540
15 hyperapobetalipoproteinemia 31 HP:0008158
16 tuberous xanthoma 31 HP:0031290
17 elevated circulating sitosterol concentration 31 HP:0033341

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Spleen:
splenomegaly

Hematology:
reticulocytosis
stomatocytosis
chronic hemolytic anemia
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 20-May-2021)

Drugs & Therapeutics for Sitosterolemia 1

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ezetimibe Approved Phase 3 163222-33-1 150311
2 Hypolipidemic Agents Phase 3
3 Lipid Regulating Agents Phase 3
4 Antimetabolites Phase 3
5 Anticholesteremic Agents Phase 3
6 Phytosterol Phase 1
7
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
8
Isoflurane Approved, Vet_approved 26675-46-7 3763
9
Atracurium Approved, Experimental, Investigational 64228-79-1 47319
10
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
11
Bupivacaine Approved, Investigational 38396-39-3, 2180-92-9 2474
12 Anesthetics
13 Analgesics
14 Colesevelam Hydrochloride
15 Omega 3 Fatty Acid

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
3 Analgesic Effect of Ultrasound Guided Combined (Suprascapular and Circumflex Nerve Blocks ) Versus (Suprascapular Nerve and Posterior Cord Nerve Blocks at Infraclavicular Level ) During Shoulder Arthroscopy : A Randomized Controlled Study Recruiting NCT04446403
4 Effects of Fish Oil, Colesevelam and Combination Therapy on Sterol Metabolism in Sitosterolemia Active, not recruiting NCT01948648 Colesevelam;Combination of fish oil and colesevelam

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 29 ABCG8

Anatomical Context for Sitosterolemia 1

MalaCards organs/tissues related to Sitosterolemia 1:

40
Liver, Spinal Cord

Publications for Sitosterolemia 1

Articles related to Sitosterolemia 1:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Sitosterolemia: a new mutation in a Mediterranean patient. 6 57
25110228 2014
2
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 6 57
22981120 2012
3
Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots. 6 57
15996216 2005
4
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. 6 57
16029460 2005
5
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 57 6
11099417 2000
6
Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia. 6 57
3706300 1986
7
Hyperapobetalipoproteinaemia in two families with xanthomas and phytosterolaemia. 57 6
6110091 1981
8
Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. 6 57
4360855 1974
9
Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene. 57
31901240 2020
10
Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review. 6
30985648 2019
11
[Clinical features of 20 patients with phytosterolemia causing hematologic abnormalities]. 6
31060161 2019
12
[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia]. 6
29886606 2018
13
Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study. 6
29353225 2018
14
Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form. 6
28739549 2017
15
Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene. 6
28771437 2017
16
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia. 6
28521186 2017
17
A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe. 6
28203044 2017
18
Against all odds: blended phenotypes of three single-gene defects. 6
26813946 2016
19
20-year-old amish woman with abdominal pain, retroperitoneal mass, and hyperlipidemia. 6
25073796 2015
20
Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding. 6
25665839 2015
21
Premature atherosclerosis is not systematic in phytosterolemic patients: severe hypercholesterolemia as a confounding factor in five subjects. 6
24657386 2014
22
Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. 6
24423340 2014
23
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. 6
24166850 2014
24
The ABCG8 G574R variant, serum plant sterol levels, and cardiovascular disease risk in the Old Order Amish. 6
23241408 2013
25
[Clinical and gene study of three pedigrees of phytosterolemia associated with macrothrombocytopenia and hemolysis]. 6
21729603 2011
26
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. 6
20719861 2010
27
Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism. 6
20543520 2010
28
Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children. 6
20521169 2010
29
Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases. 6
19111681 2009
30
Cholesterol homeostasis by the intestine: lessons from Niemann-Pick C1 Like 1 [NPC1L1). 57
18585981 2008
31
Mediterranean macrothrombocytopenia and phytosterolaemia/sitosterolaemia. 57
18245645 2008
32
Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene. 6
17976197 2007
33
Similar serum plant sterol responses of human subjects heterozygous for a mutation causing sitosterolemia and controls to diets enriched in plant sterols or stanols. 6
17228349 2007
34
Mediterranean stomatocytosis/macrothrombocytopenia: update from Adelaide, Australia. 57
16445847 2006
35
Phenotypic heterogeneity of sitosterolemia. 6
15375183 2004
36
Disruption of cholesterol homeostasis by plant sterols. 57
15372105 2004
37
Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking. 6
15054092 2004
38
Images in clinical medicine. Phytosterolemia and xanthomatosis. 57
12840092 2003
39
Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia. 6
12124998 2002
40
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. 6
11452359 2001
41
High-resolution physical and transcript map of human chromosome 2p21 containing the sitosterolaemia locus. 57
11378825 2001
42
Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities. 57
11378826 2001
43
Genetic basis of sitosterolemia. 6
11264985 2001
44
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. 57
11222377 2001
45
Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. 6
11138003 2001
46
Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. 57
9727073 1998
47
Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome. 57
8884563 1996
48
Spinal cord compression with paraplegia in xanthomatosis due to normocholesterolemic sitosterolemia. 57
2241122 1990
49
A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis. 57
2394840 1990
50
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. 57
4041477 1985

Variations for Sitosterolemia 1

ClinVar genetic disease variations for Sitosterolemia 1:

6 (show top 50) (show all 249)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCG8 NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter) SNV Pathogenic 4972 rs137852991 GRCh37: 2:44100948-44100948
GRCh38: 2:43873809-43873809
2 ABCG8 NM_022437.3(ABCG8):c.1787T>G (p.Leu596Arg) SNV Pathogenic 4973 rs137852992 GRCh37: 2:44104730-44104730
GRCh38: 2:43877591-43877591
3 ABCG8 NM_022437.3(ABCG8):c.691C>A (p.Pro231Thr) SNV Pathogenic 4974 rs137852993 GRCh37: 2:44079622-44079622
GRCh38: 2:43852483-43852483
4 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) SNV Pathogenic 30485 rs199689137 GRCh37: 2:44050063-44050063
GRCh38: 2:43822924-43822924
5 ABCG8 NM_022437.3(ABCG8):c.320C>G (p.Ser107Ter) SNV Pathogenic 39520 rs137854891 GRCh37: 2:44073448-44073448
GRCh38: 2:43846309-43846309
6 ABCG8 NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) SNV Pathogenic 4970 rs137852990 GRCh37: 2:44079831-44079831
GRCh38: 2:43852692-43852692
7 ABCG8 NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) SNV Pathogenic 4969 rs137852989 GRCh37: 2:44105004-44105004
GRCh38: 2:43877865-43877865
8 ABCG8 NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) SNV Pathogenic 4967 rs137852987 GRCh37: 2:44099233-44099233
GRCh38: 2:43872094-43872094
9 ABCG8 NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter) SNV Pathogenic 4972 rs137852991 GRCh37: 2:44100948-44100948
GRCh38: 2:43873809-43873809
10 ABCG8 NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) SNV Pathogenic 4968 rs137852988 GRCh37: 2:44102516-44102516
GRCh38: 2:43875377-43875377
11 ABCG8 NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) SNV Pathogenic 4967 rs137852987 GRCh37: 2:44099233-44099233
GRCh38: 2:43872094-43872094
12 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.1886C>G (p.Ser629Ter) SNV Pathogenic 998323 GRCh37: 2:44040325-44040325
GRCh38: 2:43813186-43813186
13 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.634+1G>C SNV Pathogenic 1033595 GRCh37: 2:44055121-44055121
GRCh38: 2:43827982-43827982
14 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.1166G>A (p.Arg389His) SNV Pathogenic 4980 rs119480069 GRCh37: 2:44051210-44051210
GRCh38: 2:43824071-43824071
15 ABCG8 NM_022437.3(ABCG8):c.904C>T (p.Gln302Ter) SNV Pathogenic 972743 GRCh37: 2:44079947-44079947
GRCh38: 2:43852808-43852808
16 ABCG8 NM_022437.3(ABCG8):c.547del (p.Gln183fs) Deletion Pathogenic 4971 rs387906323 GRCh37: 2:44078945-44078945
GRCh38: 2:43851806-43851806
17 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.978del (p.Glu326fs) Deletion Pathogenic/Likely pathogenic 222478 rs869025350 GRCh37: 2:44051498-44051498
GRCh38: 2:43824359-43824359
18 ABCG8 NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) SNV Likely pathogenic 4968 rs137852988 GRCh37: 2:44102516-44102516
GRCh38: 2:43875377-43875377
19 ABCG8 NM_022437.3(ABCG8):c.965-1G>A SNV Likely pathogenic 517640 rs957176669 GRCh37: 2:44099114-44099114
GRCh38: 2:43871975-43871975
20 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.635-153_1588del Deletion Likely pathogenic 943877 GRCh37: 2:44047115-44053813
GRCh38: 2:43819976-43826674
21 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) SNV Conflicting interpretations of pathogenicity 284636 rs141828689 GRCh37: 2:44055163-44055163
GRCh38: 2:43828024-43828024
22 ABCG5 , ABCG8 NM_022436.3(ABCG5):c.392A>G (p.Tyr131Cys) SNV Uncertain significance 594497 rs569748582 GRCh37: 2:44059096-44059096
GRCh38: 2:43831957-43831957
23 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.1285G>A (p.Ala429Thr) SNV Uncertain significance 962525 GRCh37: 2:44051091-44051091
GRCh38: 2:43823952-43823952
24 ABCG8 NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn) SNV Uncertain significance 500866 rs148456883 GRCh37: 2:44071679-44071679
GRCh38: 2:43844540-43844540
25 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.963A>C (p.Arg321Ser) SNV Uncertain significance 1038587 GRCh37: 2:44051513-44051513
GRCh38: 2:43824374-43824374
26 ABCG5 , ABCG8 NM_022436.3(ABCG5):c.181C>T (p.Arg61Trp) SNV Uncertain significance 598505 rs766545187 GRCh37: 2:44065057-44065057
GRCh38: 2:43837918-43837918
27 ABCG5 , ABCG8 NM_022436.3(ABCG5):c.2T>C (p.Met1Thr) SNV Uncertain significance 1042102 GRCh37: 2:44065817-44065817
GRCh38: 2:43838678-43838678
28 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.1348G>C (p.Asp450His) SNV Uncertain significance 1043557 GRCh37: 2:44050051-44050051
GRCh38: 2:43822912-43822912
29 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg) SNV Uncertain significance 1046346 GRCh37: 2:44051562-44051562
GRCh38: 2:43824423-43824423
30 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.1528C>A (p.His510Asn) SNV Uncertain significance 595462 rs199984328 GRCh37: 2:44047175-44047175
GRCh38: 2:43820036-43820036
31 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.832G>A (p.Ala278Thr) SNV Uncertain significance 1052847 GRCh37: 2:44052100-44052100
GRCh38: 2:43824961-43824961
32 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.634+3A>G SNV Uncertain significance 598045 rs374755597 GRCh37: 2:44055119-44055119
GRCh38: 2:43827980-43827980
33 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.1121G>C (p.Arg374Thr) SNV Uncertain significance 944271 GRCh37: 2:44051255-44051255
GRCh38: 2:43824116-43824116
34 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.1620G>A (p.Ala540=) SNV Uncertain significance 950594 GRCh37: 2:44047083-44047083
GRCh38: 2:43819944-43819944
35 ABCG8 NM_022437.3(ABCG8):c.1353C>T (p.Leu451=) SNV Uncertain significance 594738 rs373560827 GRCh37: 2:44101067-44101067
GRCh38: 2:43873928-43873928
36 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.1376A>G (p.Gln459Arg) SNV Uncertain significance 899096 GRCh37: 2:44050023-44050023
GRCh38: 2:43822884-43822884
37 ABCG5 , ABCG8 NM_022436.3(ABCG5):c.281C>T (p.Thr94Met) SNV Uncertain significance 899151 GRCh37: 2:44059207-44059207
GRCh38: 2:43832068-43832068
38 ABCG5 , ABCG8 NM_022436.3(ABCG5):c.235G>A (p.Gly79Arg) SNV Uncertain significance 598521 rs142125966 GRCh37: 2:44065003-44065003
GRCh38: 2:43837864-43837864
39 ABCG5 , ABCG8 NM_022436.3(ABCG5):c.207C>G (p.Leu69=) SNV Uncertain significance 899152 GRCh37: 2:44065031-44065031
GRCh38: 2:43837892-43837892
40 ABCG5 , ABCG8 NM_022436.3(ABCG5):c.151G>A (p.Val51Met) SNV Uncertain significance 899153 GRCh37: 2:44065087-44065087
GRCh38: 2:43837948-43837948
41 ABCG8 NM_022437.3(ABCG8):c.76A>G (p.Arg26Gly) SNV Uncertain significance 498839 rs138925418 GRCh37: 2:44071658-44071658
GRCh38: 2:43844519-43844519
42 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.933C>T (p.Ser311=) SNV Uncertain significance 1000933 GRCh37: 2:44051543-44051543
GRCh38: 2:43824404-43824404
43 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.1348G>A (p.Asp450Asn) SNV Uncertain significance 1004734 GRCh37: 2:44050051-44050051
GRCh38: 2:43822912-43822912
44 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.862G>T (p.Gly288Cys) SNV Uncertain significance 1004856 GRCh37: 2:44052070-44052070
GRCh38: 2:43824931-43824931
45 ABCG5 , ABCG8 NM_022436.3(ABCG5):c.116G>A (p.Gly39Asp) SNV Uncertain significance 1010351 GRCh37: 2:44065703-44065703
GRCh38: 2:43838564-43838564
46 ABCG5 NM_022436.3(ABCG5):c.451A>C (p.Thr151Pro) SNV Uncertain significance 1017384 GRCh37: 2:44058958-44058958
GRCh38: 2:43831819-43831819
47 ABCG5 , ABCG8 NM_022436.3(ABCG5):c.235G>A (p.Gly79Arg) SNV Uncertain significance 598521 rs142125966 GRCh37: 2:44065003-44065003
GRCh38: 2:43837864-43837864
48 ABCG5 , DYNC2LI1 NM_022436.3(ABCG5):c.1870T>C (p.Phe624Leu) SNV Uncertain significance 594348 rs150401285 GRCh37: 2:44040341-44040341
GRCh38: 2:43813202-43813202
49 ABCG5 , ABCG8 NM_022436.3(ABCG5):c.292_293delinsTG (p.Ala98Cys) Indel Uncertain significance 1028260 GRCh37: 2:44059195-44059196
GRCh38: 2:43832056-43832057
50 ABCG8 NM_022437.3(ABCG8):c.-48G>T SNV Uncertain significance 898096 GRCh37: 2:44066145-44066145
GRCh38: 2:43839006-43839006

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

72
# 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 rs117730980
5 ABCG8 p.Leu501Pro VAR_012259 rs123398940
6 ABCG8 p.Arg543Ser VAR_012260 rs201690654
7 ABCG8 p.Leu572Pro VAR_012262 rs769576789
8 ABCG8 p.Gly574Glu VAR_012263 rs132597938
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 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 1 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 1 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 1

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
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35 IUPHAR
36 KEGG
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46 MGI
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51 NDF-RT
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57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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