STSL1
MCID: STS010
MIFTS: 47

Sitosterolemia 1 (STSL1)

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

Aliases & Classifications for Sitosterolemia 1

MalaCards integrated aliases for Sitosterolemia 1:

Name: Sitosterolemia 1 56
Phytosterolemia 56 58 73
Sitosterolemia 58 73
Stsl 56 73
Shellfish Sterolemia 73
Stsl1 56

Characteristics:

Orphanet epidemiological data:

58
sitosterolemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
sitosterolemia 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


External Ids:

OMIM 56 210250
OMIM Phenotypic Series 56 PS210250
MESH via Orphanet 44 C537345
ICD10 via Orphanet 33 E78.0
UMLS via Orphanet 72 C0342907
Orphanet 58 ORPHA2882

Summaries for Sitosterolemia 1

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). (210250)

MalaCards based summary : Sitosterolemia 1, also known as phytosterolemia, is related to sitosterolemia and hypercholesterolemia, familial, 1. 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 Phytosterol have been mentioned in the context of this disorder. Affiliated tissues include liver, spinal cord and heart, and related phenotypes are arthritis and splenomegaly

UniProtKB/Swiss-Prot : 73 Sitosterolemia: Rare autosomal recessive disorder characterized by increased intestinal absorption of all sterols including cholesterol, plant and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Sitosterolemia 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 top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 sitosterolemia 30.2 ABCG8 ABCG5
2 hypercholesterolemia, familial, 1 30.2 ABCG8 ABCG5
3 sitosterolemia 2 29.8 ABCG8 ABCG5
4 familial hypercholesterolemia 29.6 ABCG8 ABCG5
5 homozygous familial hypercholesterolemia 29.5 ABCG8 ABCG5
6 thrombocytopenia 29.3 ABCG8 ABCG5
7 xanthomatosis 10.5
8 splenomegaly 10.4
9 liver disease 10.3
10 hemolytic anemia 10.3
11 lipid metabolism disorder 10.2
12 autosomal recessive disease 10.2
13 cytokine deficiency 10.2
14 atherosclerosis susceptibility 10.2
15 myocardial infarction 10.2
16 vascular disease 10.2
17 paraplegia 10.2
18 cryptogenic cirrhosis 10.2
19 atrial standstill 1 10.1
20 cerebrotendinous xanthomatosis 10.1
21 leukemia, acute lymphoblastic 3 10.1
22 deficiency anemia 10.1
23 primary biliary cirrhosis 10.1
24 neutropenia 10.1
25 cholestasis 10.1
26 thrombocytopenia due to platelet alloimmunization 10.1
27 liver cirrhosis 10.1
28 hepatoblastoma 10.1
29 evans' syndrome 10.1
30 lipid storage disease 10.1
31 polyploidy 10.1
32 arteries, anomalies of 10.0
33 hypertriglyceridemia, familial 10.0
34 familial mediterranean fever 10.0
35 coronary heart disease 1 10.0
36 aortic valve disease 2 10.0
37 steel syndrome 10.0
38 hyperlipoproteinemia, type iii 10.0
39 angina pectoris 10.0
40 coronary artery anomaly 10.0
41 gonadal dysgenesis 10.0
42 blood platelet disease 10.0
43 generalized atherosclerosis 10.0
44 turner syndrome 10.0
45 intermittent claudication 10.0
46 infertility 10.0
47 aortic valve insufficiency 10.0
48 inherited metabolic disorder 10.0
49 acute myocardial infarction 10.0
50 48,xyyy 10.0

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

Symptoms via clinical synopsis from OMIM:

56
Skeletal Limbs:
arthritis
joint arthralgia

Abdomen:
abdominal pain

Cardiovascular Vascular:
atherosclerosis
coronary atherosclerosis

Abdomen Liver:
cholesterol biosynthesis severely depressed

Abdomen Spleen:
splenomegaly

Hematology:
chronic hemolytic anemia
reticulocytosis
stomatocytosis
giant platelets
impaired platelet aggregation
more
Laboratory Abnormalities:
hyperapobetalipoproteinemia
elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia)
elevated plasma campesterol
elevated plasma stigmasterol
microsomal hmg-coa reductase decreased
more
Muscle Soft Tissue:
tendinous and tuberous xanthoma

Clinical features from OMIM:

210250

Drugs & Therapeutics for Sitosterolemia 1

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ezetimibe Approved Phase 3 163222-33-1 150311
2 Phytosterol Phase 3
3 Gamma-sitosterol Phase 3
4 Hypolipidemic Agents Phase 3
5 Anticholesteremic Agents Phase 3
6 Antimetabolites Phase 3
7 Lipid Regulating Agents Phase 3
8 insulin
9 Insulin, Globin Zinc
10 Colesevelam Hydrochloride
11 Omega 3 Fatty Acid

Interventional clinical trials:

(show all 12)
# 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 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Efficacy and Safety of Adding Ezetimibe 30 mg to An Ongoing Regimen of Ezetimibe 10 mg in Patients Homozygous Sitosterolemia Completed NCT00092898 Phase 3 MK0653, ezetimibe;Comparator: placebo
3 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 Completed NCT00092820 Phase 3 MK0653, ezetimibe;Comparator: placebo
4 A Study to Assess Adding Ezetimibe 30 mg to Ongoing Treatment With Ezetimibe 10 mg in Patients With Homozygous Sitosterolemia Completed NCT00099996 Phase 3 SCH-58235;Ezetimibe
5 An Open-Label, Worldwide, Treatment Use Study to Provide Ezetimibe 10 Mg/Day to Patients With Homozygous Familial Hypercholesterolemia or Homozygous Sitosterolemia Terminated NCT00092833 Phase 3 Comparator: ezetimibe
6 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Study to Evaluate SCH-58235 in Homozygous Sitosterolemia Completed NCT00045812 Phase 2 SCH-58235
7 Assessment of Cholesterol Metabolism in Heterozygous Phytosterolemia Completed NCT01102647 Phase 1
8 Assessment of Sterol Metabolism in Sitosterolemia: A Pilot Study of Patients Treated With Ezetimibe Unknown status NCT01584206 Ezetimibe
9 Genetic Study of Sitosterolemia Completed NCT00004481
10 A Nutrigenomics Intervention for the Study of the Role of Dietary Sitosterol on Lipid, Glucose and Energy Metabolism Completed NCT00531128
11 Effects of Fish Oil, Colesevelam and Combination Therapy on Sterol Metabolism in Sitosterolemia Recruiting NCT01948648 Colesevelam;Combination of fish oil and colesevelam
12 BioHoFH - Biomarker for Homozygous Familial Hypercholesterolemia AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT03198897

Search NIH Clinical Center for Sitosterolemia 1

Genetic Tests for Sitosterolemia 1

Anatomical Context for Sitosterolemia 1

MalaCards organs/tissues related to Sitosterolemia 1:

40
Liver, Spinal Cord, Heart

Publications for Sitosterolemia 1

Articles related to Sitosterolemia 1:

(show top 50) (show all 91)
# Title Authors PMID Year
1
Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia. 56 6 61
3706300 1986
2
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 6 56
22981120 2012
3
Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots. 6 56
15996216 2005
4
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. 56 6
16029460 2005
5
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 56 6
11099417 2000
6
Hyperapobetalipoproteinaemia in two families with xanthomas and phytosterolaemia. 6 56
6110091 1981
7
Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. 6 56
4360855 1974
8
Images in clinical medicine. Phytosterolemia and xanthomatosis. 61 56
12840092 2003
9
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. 56 61
4041477 1985
10
Sitosterolemia 6
23556150 2013
11
Mediterranean macrothrombocytopenia and phytosterolaemia/sitosterolaemia. 56
18245645 2008
12
Mediterranean stomatocytosis/macrothrombocytopenia: update from Adelaide, Australia. 56
16445847 2006
13
Disruption of cholesterol homeostasis by plant sterols. 56
15372105 2004
14
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
15
High-resolution physical and transcript map of human chromosome 2p21 containing the sitosterolaemia locus. 56
11378825 2001
16
Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities. 56
11378826 2001
17
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. 56
11222377 2001
18
Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. 56
9727073 1998
19
Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome. 56
8884563 1996
20
A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis. 56
2394840 1990
21
Spinal cord compression with paraplegia in xanthomatosis due to normocholesterolemic sitosterolemia. 56
2241122 1990
22
Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis. 56
3989379 1985
23
Platelet count and mean platelet volume in an Algerian population indicating a low prevalence of Mediterranean macrothrombocytopenia. 56
6510936 1984
24
A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia. 56
7258222 1981
25
Phytosterolaemia, xanthomatosis and premature atherosclerotic arterial disease: a case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis. 56
6768564 1980
26
Platelet formation in Mediterranean macrothrombocytosis. 56
704332 1978
27
Beta-sitosterolemia and xanthomatosis. 56
1246333 1976
28
Stomatocytes, haemolytic anaemia and abdominal pain in Mediterranean migrants. Some examples of a new syndrome? 56
5374042 1969
29
Phytosterolemia and γ-glutamyl transferase in adults with parenteral nutrition: Fish versus vegetal lipids: A randomized clinical trial. 61
31743812 2019
30
[Sitosterolemia (phytosterolemia)]. 61
31254003 2019
31
[Clinical features of 20 patients with phytosterolemia causing hematologic abnormalities]. 61
31060161 2019
32
Recurrent tendosynovitis as a rare manifestation of a lipid disorder. 61
30459115 2019
33
Stigmasterol accumulation causes cardiac injury and promotes mortality. 61
30675518 2019
34
The natural history of phytosterolemia: Observations on its homeostasis. 61
29353227 2018
35
Phytosterolemia. 61
26927922 2016
36
Plant Sterols, Stanols, and Sitosterolemia. 61
25941971 2015
37
Severe hypercholesterolemia and phytosterolemia with extensive xanthomas in primary biliary cirrhosis: role of biliary excretion on sterol homeostasis. 61
25234565 2014
38
A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis. 61
24623560 2014
39
Premature atherosclerosis is not systematic in phytosterolemic patients: severe hypercholesterolemia as a confounding factor in five subjects. 61
24657386 2014
40
Plant sterols in food: no consensus in guidelines. 61
24491560 2014
41
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. 61
24166850 2014
42
Macrothrombocytopenia/stomatocytosis specially associated with phytosterolemia. 61
22297561 2012
43
Serum lipids, plant sterols, and cholesterol kinetic responses to plant sterol supplementation in phytosterolemia heterozygotes and control individuals. 61
22378727 2012
44
[Phytosterolemia associated macrothrombocytopenia and hemolytic anemia]. 61
22338164 2011
45
The role of soluble fiber intake in patients under highly effective lipid-lowering therapy. 61
21810257 2011
46
Cerebral accumulation of dietary derivable plant sterols does not interfere with memory and anxiety related behavior in Abcg5-/- mice. 61
21431910 2011
47
[Clinical and gene study of three pedigrees of phytosterolemia associated with macrothrombocytopenia and hemolysis]. 61
21729603 2011
48
Phytosterols and phytosterolemia: gene-diet interactions. 61
21437027 2011
49
Plant sterols increased IL-6 and TNF-α secretion from macrophages, but to a lesser extent than cholesterol. 61
21266789 2011
50
A phytosterolemia patient presenting exclusively with macrothrombocytopenia and stomatocytic hemolysis. 61
21576934 2011

Variations for Sitosterolemia 1

ClinVar genetic disease variations for Sitosterolemia 1:

6 (show top 50) (show all 109) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCG8 NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)SNV Pathogenic 4967 rs137852987 2:44099233-44099233 2:43872094-43872094
2 ABCG8 NM_022437.3(ABCG8):c.547del (p.Gln183fs)deletion Pathogenic 4971 rs387906323 2:44078947-44078947 2:43851808-43851808
3 ABCG8 NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter)SNV Pathogenic 4972 rs137852991 2:44100948-44100948 2:43873809-43873809
4 ABCG8 NM_022437.3(ABCG8):c.1787T>G (p.Leu596Arg)SNV Pathogenic 4973 rs137852992 2:44104730-44104730 2:43877591-43877591
5 ABCG8 NM_022437.3(ABCG8):c.691C>A (p.Pro231Thr)SNV Pathogenic 4974 rs137852993 2:44079622-44079622 2:43852483-43852483
6 ABCG5 NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter)SNV Pathogenic 30485 rs199689137 2:44050063-44050063 2:43822924-43822924
7 ABCG8 NM_022437.3(ABCG8):c.320C>G (p.Ser107Ter)SNV Pathogenic 39520 rs137854891 2:44073448-44073448 2:43846309-43846309
8 ABCG5 NM_022436.3(ABCG5):c.978del (p.Glu326fs)deletion Pathogenic/Likely pathogenic 222478 rs869025350 2:44051498-44051498 2:43824359-43824359
9 ABCG8 NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)SNV Pathogenic/Likely pathogenic 4968 rs137852988 2:44102516-44102516 2:43875377-43875377
10 ABCG8 NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter)SNV Likely pathogenic 4969 rs137852989 2:44105004-44105004 2:43877865-43877865
11 ABCG5 , ABCG8 NM_022437.3(ABCG8):c.55G>C (p.Asp19His)SNV risk factor 4975 rs11887534 2:44066247-44066247 2:43839108-43839108
12 ABCG8 NM_022437.3(ABCG8):c.965-1G>ASNV Likely pathogenic 517640 rs957176669 2:44099114-44099114 2:43871975-43871975
13 ABCG8 NM_022437.3(ABCG8):c.965-1G>CSNV Conflicting interpretations of pathogenicity 546173 rs957176669 2:44099114-44099114 2:43871975-43871975
14 ABCG8 NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr)SNV Conflicting interpretations of pathogenicity 281519 rs140690030 2:44102441-44102441 2:43875302-43875302
15 ABCG8 NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser)SNV Conflicting interpretations of pathogenicity 198901 rs144200355 2:44099435-44099435 2:43872296-43872296
16 ABCG8 NM_022437.3(ABCG8):c.1170G>A (p.Thr390=)SNV Conflicting interpretations of pathogenicity 336076 rs139902223 2:44099404-44099404 2:43872265-43872265
17 ABCG8 NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg)SNV Conflicting interpretations of pathogenicity 336075 rs554680915 2:44099267-44099267 2:43872128-43872128
18 ABCG8 NM_022437.3(ABCG8):c.1061G>A (p.Arg354His)SNV Uncertain significance 336074 rs142346631 2:44099211-44099211 2:43872072-43872072
19 ABCG5 NM_022436.3(ABCG5):c.803T>A (p.Phe268Tyr)SNV Uncertain significance 336047 rs770103215 2:44052129-44052129 2:43824990-43824990
20 ABCG8 NM_022437.3(ABCG8):c.94A>G (p.Ser32Gly)SNV Uncertain significance 336063 rs148370122 2:44071676-44071676 2:43844537-43844537
21 ABCG8 NM_022437.3(ABCG8):c.36G>A (p.Pro12=)SNV Uncertain significance 336061 rs368998235 2:44066228-44066228 2:43839089-43839089
22 ABCG5 NM_022436.3(ABCG5):c.570G>A (p.Leu190=)SNV Uncertain significance 336052 rs886056030 2:44055186-44055186 2:43828047-43828047
23 ABCG5 NM_022436.3(ABCG5):c.610G>A (p.Ala204Thr)SNV Uncertain significance 336051 rs765266332 2:44055146-44055146 2:43828007-43828007
24 ABCG5 NM_022436.3(ABCG5):c.775-10G>TSNV Uncertain significance 336049 rs114549158 2:44052167-44052167 2:43825028-43825028
25 ABCG5 NM_022436.3(ABCG5):c.39G>T (p.Met13Ile)SNV Uncertain significance 336056 rs572875739 2:44065780-44065780 2:43838641-43838641
26 ABCG5 NM_022436.3(ABCG5):c.266G>C (p.Gly89Ala)SNV Uncertain significance 336054 rs886056031 2:44059222-44059222 2:43832083-43832083
27 ABCG5 NM_022436.3(ABCG5):c.715G>A (p.Ala239Thr)SNV Uncertain significance 336050 rs886056029 2:44053580-44053580 2:43826441-43826441
28 ABCG5 NM_022436.3(ABCG5):c.1258G>A (p.Val420Ile)SNV Uncertain significance 336040 rs747481748 2:44051118-44051118 2:43823979-43823979
29 ABCG5 NM_022436.3(ABCG5):c.*621C>TSNV Uncertain significance 336025 rs144987434 2:44039634-44039634 2:43812495-43812495
30 ABCG8 NM_022437.3(ABCG8):c.*523_*531deldeletion Uncertain significance 336096 rs886056039 2:44105575-44105583 2:43878436-43878444
31 ABCG8 NM_022437.3(ABCG8):c.*141T>GSNV Uncertain significance 336094 rs886056037 2:44105193-44105193 2:43878054-43878054
32 ABCG8 NM_022437.3(ABCG8):c.1489-15G>ASNV Uncertain significance 336082 rs886056035 2:44102270-44102270 2:43875131-43875131
33 ABCG8 NM_022437.3(ABCG8):c.1210del (p.Arg404fs)deletion Uncertain significance 336078 rs886056034 2:44099444-44099444 2:43872305-43872305
34 ABCG8 NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys)SNV Uncertain significance 282034 rs150890296 2:44101570-44101570 2:43874431-43874431
35 ABCG5 NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala)SNV Uncertain significance 283529 rs56204478 2:44065739-44065739 2:43838600-43838600
36 ABCG8 NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln)SNV Uncertain significance 4970 rs137852990 2:44079831-44079831 2:43852692-43852692
37 ABCG8 NM_022437.3(ABCG8):c.1941C>G (p.Val647=)SNV Uncertain significance 289084 rs147991100 2:44104971-44104971 2:43877832-43877832
38 ABCG8 NM_022437.3(ABCG8):c.1106A>T (p.Asp369Val)SNV Uncertain significance 290382 rs148185316 2:44099256-44099256 2:43872117-43872117
39 ABCG5 NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)SNV Uncertain significance 290953 rs144973796 2:44041634-44041634 2:43814495-43814495
40 ABCG8 NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys)SNV Uncertain significance 291264 rs34754243 2:44079755-44079755 2:43852616-43852616
41 ABCG8 NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr)SNV Uncertain significance 288467 rs113005049 2:44104954-44104954 2:43877815-43877815
42 ABCG5 NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met)SNV Uncertain significance 336042 rs149418765 2:44051213-44051213 2:43824074-43824074
43 ABCG5 NM_022436.3(ABCG5):c.1082C>G (p.Ser361Cys)SNV Uncertain significance 336044 rs776365033 2:44051394-44051394 2:43824255-43824255
44 ABCG5 NM_022436.3(ABCG5):c.900C>G (p.Phe300Leu)SNV Uncertain significance 336046 rs748009304 2:44052032-44052032 2:43824893-43824893
45 ABCG5 NM_022436.3(ABCG5):c.281C>G (p.Thr94Arg)SNV Uncertain significance 336053 rs558993616 2:44059207-44059207 2:43832068-43832068
46 ABCG5 NM_022436.3(ABCG5):c.*285G>CSNV Uncertain significance 336033 rs114868704 2:44039970-44039970 2:43812831-43812831
47 ABCG5 NM_022436.3(ABCG5):c.1850C>G (p.Thr617Arg)SNV Uncertain significance 336035 rs528636525 2:44040361-44040361 2:43813222-43813222
48 ABCG5 NM_022436.3(ABCG5):c.*592G>ASNV Uncertain significance 336026 rs151005348 2:44039663-44039663 2:43812524-43812524
49 ABCG5 NM_022436.3(ABCG5):c.*511C>ASNV Uncertain significance 336028 rs547604287 2:44039744-44039744 2:43812605-43812605
50 ABCG5 NM_022436.3(ABCG5):c.392A>G (p.Tyr131Cys)SNV Uncertain significance 594497 2:44059096-44059096 2:43831957-43831957

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

73 (show all 16)
# 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
7 ABCG8 p.Arg184His VAR_012252 rs766212636
8 ABCG8 p.Pro231Thr VAR_012253 rs137852993
9 ABCG8 p.Arg263Gln VAR_012256 rs137852990
10 ABCG8 p.Arg405His VAR_012258 rs117730980
11 ABCG8 p.Leu501Pro VAR_012259 rs123398940
12 ABCG8 p.Arg543Ser VAR_012260 rs201690654
13 ABCG8 p.Leu572Pro VAR_012262 rs769576789
14 ABCG8 p.Gly574Glu VAR_012263 rs132597938
15 ABCG8 p.Gly574Arg VAR_012264 rs137852988
16 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 9.16 ABCG8 ABCG5
2 receptor complex GO:0043235 8.96 ABCG8 ABCG5
3 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 11)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.49 ABCG8 ABCG5
2 response to drug GO:0042493 9.48 ABCG8 ABCG5
3 lipid transport GO:0006869 9.46 ABCG8 ABCG5
4 cholesterol homeostasis GO:0042632 9.43 ABCG8 ABCG5
5 response to nutrient GO:0007584 9.4 ABCG8 ABCG5
6 excretion GO:0007588 9.37 ABCG8 ABCG5
7 cholesterol efflux GO:0033344 9.32 ABCG8 ABCG5
8 intestinal cholesterol absorption GO:0030299 9.26 ABCG8 ABCG5
9 sterol transport GO:0015918 9.16 ABCG8 ABCG5
10 negative regulation of intestinal cholesterol absorption GO:0045796 8.96 ABCG8 ABCG5
11 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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