Sitosterolemia 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Sitosterolemia 1

MalaCards integrated aliases for Sitosterolemia 1:

Name: Sitosterolemia 1 ⁵⁷ ⁷³ ²⁸ ⁵

Phytosterolemia ⁵⁷ ⁷³ ⁵

Stsl1 ⁵⁷ ⁷³

Shellfish Sterolemia ⁷³

Stsl ⁵⁷

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Endocrine diseases Gastrointestinal diseases

See all MalaCards categories (disease lists)

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Summaries for Sitosterolemia 1

OMIM®: ⁵⁷ Sitosterolemia, also known as phytosterolemia, is an autosomal recessive metabolic condition characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol. Patients with this disorder have very high levels of plant sterols in the plasma and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease (summary by Berge et al., 2000). (210250) (Updated 08-Dec-2022)

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

UniProtKB/Swiss-Prot: ⁷³ A form of sitosterolemia, an autosomal recessive metabolic disorder characterized by unregulated intestinal absorption of cholesterol, phytosterols and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease.

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Related Diseases for Sitosterolemia 1

Diseases in the Sitosterolemia family:

Sitosterolemia 1

Sitosterolemia 2

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

(show all 41)

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

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

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Symptoms & Phenotypes for Sitosterolemia 1

Human phenotypes related to Sitosterolemia 1:

³⁰ (show all 23)

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Abdomen Spleen:
splenomegaly

Hematology:
reticulocytosis
chronic hemolytic anemia
stomatocytosis
giant platelets
impaired platelet aggregation
more

Head And Neck Eyes:
xanthelasma
arcus corneae

Abdomen:
abdominal pain (1 patient)

Muscle Soft Tissue:
tendinous and tuberous xanthoma

Skeletal Limbs:
arthritis
arthralgia

Cardiovascular Vascular:
atherosclerosis
coronary atherosclerosis
subclavian steal syndrome
carotid bruit

Laboratory Abnormalities:
hyperapobetalipoproteinemia
elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia)
elevated plasma campesterol
elevated plasma stigmasterol
microsomal hmg-coa reductase decreased
more

Abdomen Liver:
cholesterol biosynthesis severely depressed

Clinical features from OMIM®:

210250 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Sitosterolemia 1

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

(show all 6)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Ezetimibe

Approved

Phase 3

163222-33-1

150311

2

Antimetabolites

Phase 3

3

Hypolipidemic Agents

Phase 3

4

Anticholesteremic Agents

Phase 3

5

Lipid Regulating Agents

Phase 3

6

Phytosterol

Phase 1

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	A Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of MK0653 When Added to Current Regimen in Patients With Homozygous Sitosterolemia - 1 Year Open-Label Extension	Completed	NCT00092807	Phase 3	MK0653, ezetimibe;Comparator: placebo
2	Assessment of Cholesterol Metabolism in Heterozygous Phytosterolemia	Completed	NCT01102647	Phase 1

Search NIH Clinical Center for Sitosterolemia 1

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Genetic Tests for Sitosterolemia 1

Genetic tests related to Sitosterolemia 1:

#	Genetic test	Affiliating Genes
1	Sitosterolemia 1 ²⁸	ABCG8

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Anatomical Context for Sitosterolemia 1

Organs/tissues related to Sitosterolemia 1:

MalaCards : Liver, Spinal Cord, Thyroid, Heart

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Publications for Sitosterolemia 1

Articles related to Sitosterolemia 1:

(show top 50) (show all 170)

#	Title	Authors	PMID	Year
1	Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia. ⁶² ⁵⁷ ⁵	Beaty TH...Sniderman A	3706300	1986
2	Sitosterolemia: a new mutation in a Mediterranean patient. ⁵⁷ ⁵	Melenotte C...Weiller PJ	25110228	2014
3	A population-based study of autosomal-recessive disease-causing mutations in a founder population. ⁵⁷ ⁵	Chong JX...Ober C	22981120	2012
4	Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots. ⁵⁷ ⁵	Solca C...Patel SB	15996216	2005
5	Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. ⁵⁷ ⁵	Rees DC...Stewart GW	16029460	2005
6	Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. ⁵⁷ ⁵	Berge KE...Hobbs HH	11099417	2000
7	Hyperapobetalipoproteinaemia in two families with xanthomas and phytosterolaemia. ⁵⁷ ⁵	Kwiterovich PO...Sniderman AD	6110091	1981
8	Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. ⁵⁷ ⁵	Bhattacharyya AK...Connor WE	4360855	1974
9	Compound heterozygous mutations in ABCG5 or ABCG8 causing Chinese familial Sitosterolemia. ⁶² ⁵	Sun W...Chen M	32166861	2020
10	[Clinical features of 20 patients with phytosterolemia causing hematologic abnormalities]. ⁶² ⁵	Cao LJ...Wang ZY	31060161	2019
11	Premature atherosclerosis is not systematic in phytosterolemic patients: severe hypercholesterolemia as a confounding factor in five subjects. ⁶² ⁵	Hansel B...Bruckert E	24657386	2014
12	Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. ⁶² ⁵	Wang Z...Ruan C	24166850	2014
13	[Clinical and gene study of three pedigrees of phytosterolemia associated with macrothrombocytopenia and hemolysis]. ⁶² ⁵	Wang GF...Ruan CG	21729603	2011
14	Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases. ⁶² ⁵	Togo M...Tsukamoto K	19111681	2009
15	Images in clinical medicine. Phytosterolemia and xanthomatosis. ⁶² ⁵⁷	Stalenhoef AF	12840092	2003
16	Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia. ⁶² ⁵	Heimerl S...Schmitz G	12124998	2002
17	Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. ⁶² ⁵	Lu K...Patel SB	11452359	2001
18	Genetic basis of sitosterolemia. ⁶² ⁵	Lee MH...Patel SB	11264985	2001
19	Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. ⁶² ⁵	Lee MH...Patel SB	11138003	2001
20	The presence of 5 alpha-sitostanol in the serum of a patient with phytosterolemia, and its biosynthesis from plant steroids in rats with bile fistula. ⁶² ⁵⁷	Skrede B...Skrede S	4041477	1985
21	Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program. ⁵	Tada MT...Pereira AC	35549507	2022
22	ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia. ⁵	Reeskamp LF...Grefhorst A	32088153	2020
23	Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene. ⁵⁷	Tada H...Kawashiri MA	31901240	2020
24	Rare and Deleterious Mutations in ABCG5/ABCG8 Genes Contribute to Mimicking and Worsening of Familial Hypercholesterolemia Phenotype. ⁵	Tada H...Kawashiri MA	31327807	2019
25	Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review. ⁵	Huang D...Zou CC	30985648	2019
26	First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes. ⁵	Tada H...Kawashiri MA	30007774	2018
27	[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia]. ⁵	Fang D...Gu XF	29886606	2018
28	Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study. ⁵	Pek SLT...Tavintharan S	29353225	2018
29	Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form. ⁵	Bardawil T...Kurban M	28739549	2017
30	Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene. ⁵	Yagasaki H...Sugita K	28771437	2017
31	Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia. ⁵	Buonuomo PS...Calandra S	28521186	2017
32	A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe. ⁵	Ono S...Ouchi K	28203044	2017
33	Against all odds: blended phenotypes of three single-gene defects. ⁵	Li Y...Lausch E	26813946	2016
34	20-year-old amish woman with abdominal pain, retroperitoneal mass, and hyperlipidemia. ⁵	Ruiz XD...Liang KP	25073796	2015
35	Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding. ⁵	Tada H...Yamagishi M	25665839	2015
36	Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. ⁵	Park JH...Yoo EG	24423340	2014
37	The ABCG8 G574R variant, serum plant sterol levels, and cardiovascular disease risk in the Old Order Amish. ⁵	Horenstein RB...Steinle NI	23241408	2013
38	Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. ⁵	Rios J...Cohen JC	20719861	2010
39	Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism. ⁵	Tsubakio-Yamamoto K...Yamashita S	20543520	2010
40	Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children. ⁵	Niu DM...Ho LT	20521169	2010
41	Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. ⁵	Miller DT...Ledbetter DH	20466091	2010
42	Cholesterol homeostasis by the intestine: lessons from Niemann-Pick C1 Like 1 [NPC1L1). ⁵⁷	Davis HR...Altmann SW	18585981	2008
43	Mediterranean macrothrombocytopenia and phytosterolaemia/sitosterolaemia. ⁵⁷	Stewart GW...Makris M	18245645	2008
44	Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene. ⁵	Mannucci L...Cortese C	17976197	2007
45	Similar serum plant sterol responses of human subjects heterozygous for a mutation causing sitosterolemia and controls to diets enriched in plant sterols or stanols. ⁵	Kratz M...Rust S	17228349	2007
46	Mediterranean stomatocytosis/macrothrombocytopenia: update from Adelaide, Australia. ⁵⁷	Stewart GW...Pegel K	16445847	2006
47	Splicing in action: assessing disease causing sequence changes. ⁵	Baralle D...Baralle M	16199547	2005
48	Phenotypic heterogeneity of sitosterolemia. ⁵	Wang J...Hegele RA	15375183	2004
49	Disruption of cholesterol homeostasis by plant sterols. ⁵⁷	Yang C...Hobbs HH	15372105	2004
50	Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking. ⁵	Graf GA...Hobbs HH	15054092	2004

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Genes for Sitosterolemia 1

Genes related to Sitosterolemia 1 (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ABCG8	ATP Binding Cassette Subfamily G Member 8	Protein Coding	1332.47	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	3706300 4360855 6110091 (more) 11099417 11264985 11452359 12124998 15996216 16029460 22981120 24657386 25110228 30007774 31327807 32088153 35549507 15054092 23241408 25073796 28739549
2	ABCG5	ATP Binding Cassette Subfamily G Member 5	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	11138003 15375183 17228349 (more) 17976197 19111681 20466091 20521169 20543520 20719861 21729603 24166850 24423340 25665839 26813946 28203044 28521186 28771437 29353225 29886606 30985648 31060161 32166861 16199547
3	DYNC2LI1	Dynein Cytoplasmic 2 Light Intermediate Chain 1	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	11138003 15375183 17228349 (more) 17976197 19111681 20521169 20543520 20719861 21729603 24166850 24423340 25665839 26813946 28203044 28521186 28771437 29353225 29886606 30985648 31060161 32166861 16199547

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Variations for Sitosterolemia 1

ClinVar genetic disease variations for Sitosterolemia 1:

⁵ (show top 50) (show all 297)

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

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

⁷³

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

Sources

Expression for Sitosterolemia 1

Search GEO for disease gene expression data for Sitosterolemia 1.

Sources

Pathways for Sitosterolemia 1

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

#	Super pathways	Score	Top Affiliating Genes
1	Angiopoietin-like protein 8 regulatory pathway ⁷⁴ Show member pathways Insulin signaling ⁷⁴ Liver X receptor pathway ⁷⁴	11.91	ABCG8 ABCG5
2	Disorders of transmembrane transporters ⁶⁶ Show member pathways SLC transporter disorders ⁶⁶	11.84	ABCG8 ABCG5
3	NR1H2 and NR1H3-mediated signaling ⁶⁶ Show member pathways NR1H2 and NR1H3 regulate gene expression linked to gluconeogenesis ⁶⁶ NR1H2 and NR1H3 regulate gene expression linked to lipogenesis ⁶⁶ NR1H2 and NR1H3 regulate gene expression linked to triglyceride lipolysis in adipose ⁶⁶ NR1H2 and NR1H3 regulate gene expression to control bile acid homeostasis ⁶⁶ NR1H2 and NR1H3 regulate gene expression to limit cholesterol uptake ⁶⁶ NR1H3 and NR1H2 regulate gene expression linked to cholesterol transport and efflux ⁶⁶	11.44	ABCG8 ABCG5
4	Statin inhibition of cholesterol production ⁷⁴ Show member pathways Familial hyperlipidemia type 3 ⁷⁴ Lipid particles composition ⁷⁴ Statin Pathway, Pharmacodynamics ⁶⁰	11.2	ABCG8 ABCG5
5	Vitamin A and carotenoid metabolism ⁷⁴	10.88	ABCG8 ABCG5
6	Cholestasis ⁷⁴	10.41	ABCG8 ABCG5
7	Bile acids synthesis and enterohepatic circulation ⁷⁴	10.03	ABCG8 ABCG5
8	Defective ABCG8 causes GBD4 and sitosterolemia ⁶⁶ Show member pathways Defective ABCG5 causes sitosterolemia ⁶⁶	9.23	ABCG8 ABCG5

Sources

GO Terms for Sitosterolemia 1

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

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

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

(show all 14)

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

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

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

Sources

Sources for Sitosterolemia 1

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

STSL1 MCID: STS010 MIFTS: 48	Sitosterolemia 1 (STSL1) Categories: Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Sitosterolemia 1 (STSL1)

Aliases & Classifications for Sitosterolemia 1

MalaCards integrated aliases for Sitosterolemia 1:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Sitosterolemia 1

Related Diseases for Sitosterolemia 1

Diseases in the Sitosterolemia family:

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

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

Symptoms & Phenotypes for Sitosterolemia 1

Human phenotypes related to Sitosterolemia 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Sitosterolemia 1

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

Interventional clinical trials:

Genetic Tests for Sitosterolemia 1

Genetic tests related to Sitosterolemia 1:

Anatomical Context for Sitosterolemia 1

Organs/tissues related to Sitosterolemia 1:

Publications for Sitosterolemia 1

Articles related to Sitosterolemia 1:

Genes for Sitosterolemia 1

Genes related to Sitosterolemia 1 (3 elite genes):

Variations for Sitosterolemia 1

ClinVar genetic disease variations for Sitosterolemia 1:

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

Expression for Sitosterolemia 1

Pathways for Sitosterolemia 1

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

GO Terms for Sitosterolemia 1

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

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

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

Sources for Sitosterolemia 1