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STSL1
MCID: STS010
MIFTS: 46

Sitosterolemia 1 (STSL1)

Categories: Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Metabolic 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 57 73 29 6
Phytosterolemia 57 73 6
Stsl1 57 73
Shellfish Sterolemia 73
Stsl 57

Characteristics:

OMIM®:

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


HPO:

31
sitosterolemia 1:
Inheritance autosomal recessive inheritance


Classifications:

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


Sources

Summaries for Sitosterolemia 1

About this section
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 05-Mar-2021)

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 Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include liver and spinal cord, and related phenotypes are splenomegaly and arthritis

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.

Sources

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 42)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial, 1 29.6 ABCG8 ABCG5
2 sitosterolemia 29.5 DYNC2LI1 ABCG8 ABCG5
3 familial hypercholesterolemia 29.2 ABCG8 ABCG5
4 sitosterolemia 2 29.1 DYNC2LI1 ABCG8 ABCG5
5 xanthomatosis 10.3
6 splenomegaly 10.1
7 thrombocytopenia 10.1
8 hemolytic anemia 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 hyperlipoproteinemia, type iv 9.7 ABCG8 ABCG5
32 cholestasis, progressive familial intrahepatic, 3 9.7 ABCG8 ABCG5
33 hypolipoproteinemia 9.7 ABCG8 ABCG5
34 cholestasis, progressive familial intrahepatic, 2 9.7 ABCG8 ABCG5
35 aortic atherosclerosis 9.7 ABCG8 ABCG5
36 cholestasis, progressive familial intrahepatic, 1 9.7 ABCG8 ABCG5
37 cholelithiasis 9.7 ABCG8 ABCG5
38 progressive familial intrahepatic cholestasis 9.7 ABCG8 ABCG5
39 homozygous familial hypercholesterolemia 9.7 ABCG8 ABCG5
40 tangier disease 9.6 ABCG8 ABCG5
41 cholestasis, benign recurrent intrahepatic, 1 9.6 ABCG8 ABCG5
42 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
Sources

Symptoms & Phenotypes for Sitosterolemia 1

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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 05-Mar-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 05-Mar-2021)

Sources

Drugs & Therapeutics for Sitosterolemia 1

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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 Antimetabolites Phase 3
3 Hypolipidemic Agents Phase 3
4 Lipid Regulating Agents 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 Analgesics
13 Anesthetics
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

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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 ABCG8
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 32)
# 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
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 57 6
11099417 2000
5
Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia. 6 57
3706300 1986
6
Hyperapobetalipoproteinaemia in two families with xanthomas and phytosterolaemia. 57 6
6110091 1981
7
Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. 6 57
4360855 1974
8
Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene. 57
31901240 2020
9
Cholesterol homeostasis by the intestine: lessons from Niemann-Pick C1 Like 1 [NPC1L1). 57
18585981 2008
10
Mediterranean macrothrombocytopenia and phytosterolaemia/sitosterolaemia. 57
18245645 2008
11
Mediterranean stomatocytosis/macrothrombocytopenia: update from Adelaide, Australia. 57
16445847 2006
12
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. 57
16029460 2005
13
Disruption of cholesterol homeostasis by plant sterols. 57
15372105 2004
14
Images in clinical medicine. Phytosterolemia and xanthomatosis. 57
12840092 2003
15
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
16
High-resolution physical and transcript map of human chromosome 2p21 containing the sitosterolaemia locus. 57
11378825 2001
17
Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities. 57
11378826 2001
18
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. 57
11222377 2001
19
Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. 57
9727073 1998
20
Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome. 57
8884563 1996
21
A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis. 57
2394840 1990
22
Spinal cord compression with paraplegia in xanthomatosis due to normocholesterolemic sitosterolemia. 57
2241122 1990
23
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
24
Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis. 57
3989379 1985
25
Platelet count and mean platelet volume in an Algerian population indicating a low prevalence of Mediterranean macrothrombocytopenia. 57
6510936 1984
26
A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia. 57
7258222 1981
27
Phytosterolaemia, xanthomatosis and premature atherosclerotic arterial disease: a case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis. 57
6768564 1980
28
Platelet formation in Mediterranean macrothrombocytosis. 57
704332 1978
29
Beta-sitosterolemia and xanthomatosis. 57
1246333 1976
30
Mediterranean macrothrombocytopenia. 57
1095094 1975
31
Stomatocytes, haemolytic anaemia and abdominal pain in Mediterranean migrants. Some examples of a new syndrome? 57
5374042 1969
32
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 230)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCG8 NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) SNV Pathogenic 4969 rs137852989 2:44105004-44105004 2:43877865-43877865
2 ABCG8 NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) SNV Pathogenic 4970 rs137852990 2:44079831-44079831 2:43852692-43852692
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 ABCG8 NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) SNV Pathogenic 4967 rs137852987 2:44099233-44099233 2:43872094-43872094
9 ABCG8 NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter) SNV Pathogenic 4972 rs137852991 2:44100948-44100948 2:43873809-43873809
10 ABCG8 NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) SNV Pathogenic 4968 rs137852988 2:44102516-44102516 2:43875377-43875377
11 ABCG8 NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) SNV Pathogenic 4967 rs137852987 2:44099233-44099233 2:43872094-43872094
12 ABCG5 NM_022436.3(ABCG5):c.1166G>A (p.Arg389His) SNV Pathogenic 4980 rs119480069 2:44051210-44051210 2:43824071-43824071
13 ABCG8 NM_022437.3(ABCG8):c.904C>T (p.Gln302Ter) SNV Pathogenic 972743 2:44079947-44079947 2:43852808-43852808
14 ABCG8 NM_022437.3(ABCG8):c.547del (p.Gln183fs) Deletion Pathogenic 4971 rs387906323 2:44078945-44078945 2:43851806-43851806
15 ABCG5 NM_022436.3(ABCG5):c.978del (p.Glu326fs) Deletion Pathogenic/Likely pathogenic 222478 rs869025350 2:44051498-44051498 2:43824359-43824359
16 ABCG8 NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) SNV Likely pathogenic 4968 rs137852988 2:44102516-44102516 2:43875377-43875377
17 ABCG8 NM_022437.3(ABCG8):c.965-1G>A SNV Likely pathogenic 517640 rs957176669 2:44099114-44099114 2:43871975-43871975
18 ABCG5 NM_022436.3(ABCG5):c.635-153_1588del Deletion Likely pathogenic 943877 2:44047115-44053813 2:43819976-43826674
19 ABCG5 NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) SNV Conflicting interpretations of pathogenicity 284636 rs141828689 2:44055163-44055163 2:43828024-43828024
20 ABCG5 NM_022436.3(ABCG5):c.1121G>C (p.Arg374Thr) SNV Uncertain significance 944271 2:44051255-44051255 2:43824116-43824116
21 ABCG5 NM_022436.3(ABCG5):c.1620G>A (p.Ala540=) SNV Uncertain significance 950594 2:44047083-44047083 2:43819944-43819944
22 ABCG5 NM_022436.3(ABCG5):c.1285G>A (p.Ala429Thr) SNV Uncertain significance 962525 2:44051091-44051091 2:43823952-43823952
23 ABCG5 NM_022436.3(ABCG5):c.392A>G (p.Tyr131Cys) SNV Uncertain significance 594497 rs569748582 2:44059096-44059096 2:43831957-43831957
24 ABCG5 NM_022436.3(ABCG5):c.1196T>G (p.Phe399Cys) SNV Uncertain significance 894968 2:44051180-44051180 2:43824041-43824041
25 ABCG5 NM_022436.3(ABCG5):c.1118+13C>G SNV Uncertain significance 894969 2:44051345-44051345 2:43824206-43824206
26 ABCG8 NM_022437.3(ABCG8):c.1353C>T (p.Leu451=) SNV Uncertain significance 594738 rs373560827 2:44101067-44101067 2:43873928-43873928
27 ABCG5 NM_022436.3(ABCG5):c.1376A>G (p.Gln459Arg) SNV Uncertain significance 899096 2:44050023-44050023 2:43822884-43822884
28 ABCG5 NM_022436.3(ABCG5):c.281C>T (p.Thr94Met) SNV Uncertain significance 899151 2:44059207-44059207 2:43832068-43832068
29 ABCG5 NM_022436.3(ABCG5):c.235G>A (p.Gly79Arg) SNV Uncertain significance 598521 rs142125966 2:44065003-44065003 2:43837864-43837864
30 ABCG5 NM_022436.3(ABCG5):c.207C>G (p.Leu69=) SNV Uncertain significance 899152 2:44065031-44065031 2:43837892-43837892
31 ABCG5 NM_022436.3(ABCG5):c.151G>A (p.Val51Met) SNV Uncertain significance 899153 2:44065087-44065087 2:43837948-43837948
32 ABCG8 NM_022437.3(ABCG8):c.76A>G (p.Arg26Gly) SNV Uncertain significance 498839 rs138925418 2:44071658-44071658 2:43844519-43844519
33 ABCG8 NM_022437.3(ABCG8):c.168G>A (p.Val56=) SNV Uncertain significance 899217 2:44073296-44073296 2:43846157-43846157
34 ABCG8 NM_022437.3(ABCG8):c.855G>A (p.Leu285=) SNV Uncertain significance 899270 2:44079898-44079898 2:43852759-43852759
35 ABCG8 NM_022437.3(ABCG8):c.870C>T (p.Thr290=) SNV Uncertain significance 288699 rs117221284 2:44079913-44079913 2:43852774-43852774
36 ABCG8 NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met) SNV Uncertain significance 287003 rs140778634 2:44099244-44099244 2:43872105-43872105
37 ABCG8 NM_022437.3(ABCG8):c.1743C>A (p.Ser581Arg) SNV Uncertain significance 899331 2:44102539-44102539 2:43875400-43875400
38 ABCG8 NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=) SNV Uncertain significance 595310 rs147582834 2:44104782-44104782 2:43877643-43877643
39 ABCG8 NM_022437.3(ABCG8):c.1858C>T (p.Leu620Phe) SNV Uncertain significance 899332 2:44104801-44104801 2:43877662-43877662
40 ABCG5 NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met) SNV Uncertain significance 336042 rs149418765 2:44051213-44051213 2:43824074-43824074
41 ABCG5 NM_022436.3(ABCG5):c.139G>C (p.Val47Leu) SNV Uncertain significance 895029 2:44065680-44065680 2:43838541-43838541
42 ABCG5 NM_022436.3(ABCG5):c.78G>T (p.Glu26Asp) SNV Uncertain significance 895030 2:44065741-44065741 2:43838602-43838602
43 ABCG5 NM_022436.3(ABCG5):c.69C>T (p.Ser23=) SNV Uncertain significance 895031 2:44065750-44065750 2:43838611-43838611
44 ABCG5 NM_022436.3(ABCG5):c.23C>A (p.Thr8Asn) SNV Uncertain significance 895032 2:44065796-44065796 2:43838657-43838657
45 ABCG8 NM_022437.3(ABCG8):c.175G>T (p.Ala59Ser) SNV Uncertain significance 895098 2:44073303-44073303 2:43846164-43846164
46 ABCG8 NM_022437.3(ABCG8):c.285G>C (p.Val95=) SNV Uncertain significance 895099 2:44073413-44073413 2:43846274-43846274
47 ABCG8 NM_022437.3(ABCG8):c.331A>C (p.Arg111=) SNV Uncertain significance 285423 rs752358589 2:44078731-44078731 2:43851592-43851592
48 ABCG8 NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) SNV Uncertain significance 198901 rs144200355 2:44099435-44099435 2:43872296-43872296
49 ABCG8 NM_022437.3(ABCG8):c.1202C>T (p.Thr401Met) SNV Uncertain significance 895179 2:44099436-44099436 2:43872297-43872297
50 ABCG8 NM_022437.3(ABCG8):c.1206G>C (p.Leu402=) SNV Uncertain significance 895180 2:44099440-44099440 2:43872301-43872301

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 15)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.55 ABCG5 ABCG8
2 lipid transport GO:0006869 9.54 ABCG5 ABCG8
3 cholesterol homeostasis GO:0042632 9.52 ABCG5 ABCG8
4 response to nutrient GO:0007584 9.51 ABCG5 ABCG8
5 response to nutrient levels GO:0031667 9.49 ABCG5 ABCG8
6 intermembrane lipid transfer GO:0120009 9.48 ABCG5 ABCG8
7 triglyceride homeostasis GO:0070328 9.46 ABCG5 ABCG8
8 excretion GO:0007588 9.43 ABCG5 ABCG8
9 cholesterol efflux GO:0033344 9.4 ABCG5 ABCG8
10 response to muscle activity GO:0014850 9.37 ABCG5 ABCG8
11 sterol transport GO:0015918 9.32 ABCG5 ABCG8
12 bile acid signaling pathway GO:0038183 9.26 ABCG5 ABCG8
13 intestinal cholesterol absorption GO:0030299 9.16 ABCG5 ABCG8
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

Sources for Sitosterolemia 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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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