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STSL1
MCID: STS010
MIFTS: 44

Sitosterolemia 1 (STSL1)

Categories: Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Sitosterolemia 1

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MalaCards integrated aliases for Sitosterolemia 1:

Name: Sitosterolemia 1 56 73 29 6
Phytosterolemia 56 73
Stsl1 56 73
Shellfish Sterolemia 73
Stsl 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
sitosterolemia 1:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Gastrointestinal diseases Muscle diseases Endocrine diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Sitosterolemia 1

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UniProtKB/Swiss-Prot : 73 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 Phytosterol have been mentioned in the context of this disorder. Affiliated tissues include liver and spinal cord, and related phenotypes are splenomegaly and arthritis

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)

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Related Diseases for Sitosterolemia 1

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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 39)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial, 1 30.1 ABCG8 ABCG5
2 sitosterolemia 29.5 DYNC2LI1 ABCG8 ABCG5
3 familial hypercholesterolemia 29.5 ABCG8 ABCG5
4 sitosterolemia 2 29.2 DYNC2LI1 ABCG8 ABCG5
5 xanthomatosis 10.5
6 splenomegaly 10.4
7 hemolytic anemia 10.3
8 liver disease 10.3
9 thrombocytopenia 10.3
10 lipid metabolism disorder 10.2
11 cytokine deficiency 10.2
12 autosomal recessive disease 10.2
13 polyploidy 10.1
14 lipid storage disease 10.1
15 evans' syndrome 10.1
16 hepatoblastoma 10.1
17 liver cirrhosis 10.1
18 thrombocytopenia due to platelet alloimmunization 10.1
19 cholestasis 10.1
20 neutropenia 10.1
21 primary biliary cirrhosis 10.1
22 deficiency anemia 10.1
23 leukemia, acute lymphoblastic 3 10.1
24 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.1
25 cerebrotendinous xanthomatosis 10.1
26 atrial standstill 1 10.1
27 short-rib thoracic dysplasia 15 with polydactyly 9.7 DYNC2LI1 ABCG5
28 arcus corneae 9.6 ABCG8 ABCG5
29 homozygous familial hypercholesterolemia 9.6 ABCG8 ABCG5
30 cholestasis, progressive familial intrahepatic, 3 9.6 ABCG8 ABCG5
31 hypolipoproteinemia 9.6 ABCG8 ABCG5
32 aortic atherosclerosis 9.6 ABCG8 ABCG5
33 progressive familial intrahepatic cholestasis 9.5 ABCG8 ABCG5
34 cholelithiasis 9.5 ABCG8 ABCG5
35 tangier disease 9.5 ABCG8 ABCG5
36 short-rib thoracic dysplasia 1 with or without polydactyly 9.5 DYNC2LI1 ABCG5
37 cholestasis, benign recurrent intrahepatic, 1 9.4 ABCG8 ABCG5
38 gallbladder disease 9.3 ABCG8 ABCG5
39 leber plus disease 9.2 ABCG8 ABCG5

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



Diseases related to Sitosterolemia 1
Sources

Symptoms & Phenotypes for Sitosterolemia 1

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Human phenotypes related to Sitosterolemia 1:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 arthritis 31 HP:0001369
3 arthralgia 31 HP:0002829
4 abdominal pain 31 HP:0002027
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

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Abdomen:
abdominal pain

Cardiovascular Vascular:
atherosclerosis
coronary atherosclerosis

Abdomen Liver:
cholesterol biosynthesis severely depressed

Skeletal Limbs:
arthritis
joint arthralgia

Hematology:
reticulocytosis
stomatocytosis
chronic hemolytic anemia
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
Sources

Drugs & Therapeutics for Sitosterolemia 1

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ezetimibe Approved Phase 3 163222-33-1 150311
2 Phytosterol
3 Hypolipidemic Agents
4 Anticholesteremic Agents
5 Lipid Regulating Agents
6 Antimetabolites
7 Colesevelam Hydrochloride
8 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 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

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Genetic Tests for Sitosterolemia 1

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Genetic tests related to Sitosterolemia 1:

# Genetic test Affiliating Genes
1 Sitosterolemia 1 29
Sources

Anatomical Context for Sitosterolemia 1

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MalaCards organs/tissues related to Sitosterolemia 1:

40
Liver, Spinal Cord
Sources

Publications for Sitosterolemia 1

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Articles related to Sitosterolemia 1:

(show all 29)
# Title Authors PMID Year
1
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 56 6
22981120 2012
2
Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots. 6 56
15996216 2005
3
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. 56 6
16029460 2005
4
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 56 6
11099417 2000
5
Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia. 56 6
3706300 1986
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
Sitosterolemia 6
23556150 2013
9
Mediterranean macrothrombocytopenia and phytosterolaemia/sitosterolaemia. 56
18245645 2008
10
Mediterranean stomatocytosis/macrothrombocytopenia: update from Adelaide, Australia. 56
16445847 2006
11
Disruption of cholesterol homeostasis by plant sterols. 56
15372105 2004
12
Images in clinical medicine. Phytosterolemia and xanthomatosis. 56
12840092 2003
13
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
14
High-resolution physical and transcript map of human chromosome 2p21 containing the sitosterolaemia locus. 56
11378825 2001
15
Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities. 56
11378826 2001
16
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. 56
11222377 2001
17
Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. 56
9727073 1998
18
Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome. 56
8884563 1996
19
Spinal cord compression with paraplegia in xanthomatosis due to normocholesterolemic sitosterolemia. 56
2241122 1990
20
A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis. 56
2394840 1990
21
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
4041477 1985
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
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. 61
11668628 2001
Sources

Variations for Sitosterolemia 1

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ClinVar genetic disease variations for Sitosterolemia 1:

6 (show top 50) (show all 169) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 2:44078945-44078945 2:43851806-43851806
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 ABCG8 NM_022437.3(ABCG8):c.320C>G (p.Ser107Ter)SNV Pathogenic 39520 rs137854891 2:44073448-44073448 2:43846309-43846309
7 ABCG8 NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)SNV Pathogenic/Likely pathogenic 4968 rs137852988 2:44102516-44102516 2:43875377-43875377
8 ABCG8 NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter)SNV Likely pathogenic 4969 rs137852989 2:44105004-44105004 2:43877865-43877865
9 ABCG8 NM_022437.3(ABCG8):c.55G>C (p.Asp19His)SNV risk factor 4975 rs11887534 2:44066247-44066247 2:43839108-43839108
10 ABCG8 NM_022437.3(ABCG8):c.1386C>T (p.Asn462=)SNV Conflicting interpretations of pathogenicity 715758 2:44101100-44101100 2:43873961-43873961
11 ABCG5 NM_022436.3(ABCG5):c.1251G>A (p.Gln417=)SNV Conflicting interpretations of pathogenicity 497594 rs146801512 2:44051125-44051125 2:43823986-43823986
12 ABCG8 NM_022437.3(ABCG8):c.576C>T (p.Ile192=)SNV Conflicting interpretations of pathogenicity 497595 rs148058949 2:44079507-44079507 2:43852368-43852368
13 ABCG8 NM_022437.3(ABCG8):c.1285A>G (p.Met429Val)SNV Conflicting interpretations of pathogenicity 499929 rs147194762 2:44100999-44100999 2:43873860-43873860
14 ABCG5 NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val)SNV Conflicting interpretations of pathogenicity 502765 rs140899003 2:44047136-44047136 2:43819997-43819997
15 ABCG5 NM_022436.3(ABCG5):c.1806C>T (p.Phe602=)SNV Conflicting interpretations of pathogenicity 593731 rs150716811 2:44040405-44040405 2:43813266-43813266
16 ABCG8 NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=)SNV Conflicting interpretations of pathogenicity 595310 rs147582834 2:44104782-44104782 2:43877643-43877643
17 ABCG8 NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr)SNV Conflicting interpretations of pathogenicity 281519 rs140690030 2:44102441-44102441 2:43875302-43875302
18 ABCG5 NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala)SNV Conflicting interpretations of pathogenicity 283529 rs56204478 2:44065739-44065739 2:43838600-43838600
19 ABCG5 NM_022436.3(ABCG5):c.696C>T (p.Val232=)SNV Conflicting interpretations of pathogenicity 283812 rs72796720 2:44053599-44053599 2:43826460-43826460
20 ABCG5 NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)SNV Conflicting interpretations of pathogenicity 284636 rs141828689 2:44055163-44055163 2:43828024-43828024
21 ABCG8 NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser)SNV Conflicting interpretations of pathogenicity 198901 rs144200355 2:44099435-44099435 2:43872296-43872296
22 ABCG8 NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met)SNV Conflicting interpretations of pathogenicity 287003 rs140778634 2:44099244-44099244 2:43872105-43872105
23 ABCG8 NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr)SNV Conflicting interpretations of pathogenicity 288467 rs113005049 2:44104954-44104954 2:43877815-43877815
24 ABCG5 NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)SNV Conflicting interpretations of pathogenicity 290953 rs144973796 2:44041634-44041634 2:43814495-43814495
25 ABCG8 NM_022437.3(ABCG8):c.1941C>G (p.Val647=)SNV Conflicting interpretations of pathogenicity 289084 rs147991100 2:44104971-44104971 2:43877832-43877832
26 ABCG5 NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly)SNV Conflicting interpretations of pathogenicity 289815 rs145164937 2:44059195-44059195 2:43832056-43832056
27 ABCG8 NM_022437.3(ABCG8):c.1785C>T (p.Phe595=)SNV Conflicting interpretations of pathogenicity 336091 rs139677898 2:44104728-44104728 2:43877589-43877589
28 ABCG8 NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg)SNV Conflicting interpretations of pathogenicity 336075 rs554680915 2:44099267-44099267 2:43872128-43872128
29 ABCG8 NM_022437.3(ABCG8):c.1170G>A (p.Thr390=)SNV Conflicting interpretations of pathogenicity 336076 rs139902223 2:44099404-44099404 2:43872265-43872265
30 ABCG5 NM_022436.3(ABCG5):c.1365C>T (p.Asp455=)SNV Conflicting interpretations of pathogenicity 336039 rs141016088 2:44050034-44050034 2:43822895-43822895
31 ABCG5 NM_022436.3(ABCG5):c.1180C>T (p.Leu394=)SNV Uncertain significance 336041 rs771802286 2:44051196-44051196 2:43824057-43824057
32 ABCG5 NM_022436.3(ABCG5):c.1155A>G (p.Ala385=)SNV Uncertain significance 336043 rs886056028 2:44051221-44051221 2:43824082-43824082
33 ABCG5 NM_022436.3(ABCG5):c.182G>A (p.Arg61Gln)SNV Uncertain significance 336055 rs149599171 2:44065056-44065056 2:43837917-43837917
34 ABCG8 NM_022437.3(ABCG8):c.1203G>A (p.Thr401=)SNV Uncertain significance 336077 rs886056033 2:44099437-44099437 2:43872298-43872298
35 ABCG5 NM_022436.3(ABCG5):c.1569C>T (p.Ile523=)SNV Uncertain significance 336037 rs376969021 2:44047134-44047134 2:43819995-43819995
36 ABCG5 NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile)SNV Uncertain significance 336038 rs143402711 2:44049988-44049988 2:43822849-43822849
37 ABCG8 NM_022437.3(ABCG8):c.-53C>GSNV Uncertain significance 336059 rs886056032 2:44066140-44066140 2:43839001-43839001
38 ABCG8 NM_022437.3(ABCG8):c.220C>G (p.Pro74Ala)SNV Uncertain significance 336065 rs373610655 2:44073348-44073348 2:43846209-43846209
39 ABCG8 NM_022437.3(ABCG8):c.275G>A (p.Ser92Asn)SNV Uncertain significance 336067 rs372921526 2:44073403-44073403 2:43846264-43846264
40 ABCG8 NM_022437.3(ABCG8):c.642G>A (p.Ser214=)SNV Uncertain significance 336071 rs202198142 2:44079573-44079573 2:43852434-43852434
41 ABCG8 NM_022437.3(ABCG8):c.1568C>T (p.Pro523Leu)SNV Uncertain significance 336084 rs558635043 2:44102364-44102364 2:43875225-43875225
42 ABCG8 NM_022437.3(ABCG8):c.1675G>T (p.Ala559Ser)SNV Uncertain significance 336086 rs886056036 2:44102471-44102471 2:43875332-43875332
43 ABCG8 NM_022437.3(ABCG8):c.1061G>A (p.Arg354His)SNV Uncertain significance 336074 rs142346631 2:44099211-44099211 2:43872072-43872072
44 ABCG8 NM_022437.3(ABCG8):c.1489-15G>ASNV Uncertain significance 336082 rs886056035 2:44102270-44102270 2:43875131-43875131
45 ABCG8 NM_022437.3(ABCG8):c.*141T>GSNV Uncertain significance 336094 rs886056037 2:44105193-44105193 2:43878054-43878054
46 ABCG5 NM_022436.3(ABCG5):c.*592G>ASNV Uncertain significance 336026 rs151005348 2:44039663-44039663 2:43812524-43812524
47 ABCG5 NM_022436.3(ABCG5):c.*511C>ASNV Uncertain significance 336028 rs547604287 2:44039744-44039744 2:43812605-43812605
48 ABCG5 NM_022436.3(ABCG5):c.610G>A (p.Ala204Thr)SNV Uncertain significance 336051 rs765266332 2:44055146-44055146 2:43828007-43828007
49 ABCG5 NM_022436.3(ABCG5):c.570G>A (p.Leu190=)SNV Uncertain significance 336052 rs886056030 2:44055186-44055186 2:43828047-43828047
50 ABCG8 NM_022437.3(ABCG8):c.36G>A (p.Pro12=)SNV Uncertain significance 336061 rs368998235 2:44066228-44066228 2:43839089-43839089

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 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

Sources

Expression for Sitosterolemia 1

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Search GEO for disease gene expression data for Sitosterolemia 1.
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Pathways for Sitosterolemia 1

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Pathways related to Sitosterolemia 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Lipoprotein metabolism 65
Show member pathways
 11.9 ABCG8 ABCG5
2
Angiopoietin Like Protein 8 Regulatory Pathway 1
Show member pathways
 11.8 ABCG8 ABCG5
3
Statin Pathway 1
Show member pathways
 11.33 ABCG8 ABCG5
4
Bile secretion 36
11.11 ABCG8 ABCG5
5
Fat digestion and absorption 36
Show member pathways
 10.62 ABCG8 ABCG5
6
Vitamin A and Carotenoid Metabolism 1
10.27 ABCG8 ABCG5
Sources

GO Terms for Sitosterolemia 1

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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 11)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.49 ABCG8 ABCG5
2 lipid transport GO:0006869 9.48 ABCG8 ABCG5
3 cholesterol homeostasis GO:0042632 9.46 ABCG8 ABCG5
4 response to nutrient GO:0007584 9.43 ABCG8 ABCG5
5 intermembrane lipid transfer GO:0120009 9.4 ABCG8 ABCG5
6 excretion GO:0007588 9.37 ABCG8 ABCG5
7 cholesterol efflux GO:0033344 9.32 ABCG8 ABCG5
8 sterol transport GO:0015918 9.26 ABCG8 ABCG5
9 intestinal cholesterol absorption GO:0030299 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

Sources for Sitosterolemia 1

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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