|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Sitosterolemia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Phytosterolaemia (sitosterolaemia) is a rare autosomal recessive condition caused by mutations on the ABCG5 and ABCG8 gut transporter proteins.
|
17785700 |
2007 |
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sitosterolemia is a rare, autosomal recessive inherited sterol storage disease associated with high tissue and serum plant sterol concentrations, caused by mutations in the adenosine triphosphate-bind-ing cassette (ABC) transporter ABCG5 or ABCG8 genes.
|
20543520 |
2010 |
|
Sitosterolemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Sitosterolemia induced in Abcg5- and Abcg8-deficient mice fed a high plant sterol diet resulted in accumulation of free sterols in platelet plasma membranes, leading to hyperactivatable platelets characterized by constitutive binding of fibrinogen to its αIIbβ3 integrin receptor, internalization of the αIIbβ3 complex, generation of platelet-derived microparticles, and changes in the quantity and subcellular localization of filamin.
|
23926302 |
2013 |
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A female subject with each mutation was symptomatic with coronary atherosclerosis: a 5-year-old ABCG8 S107X homozygote and a 75-year-old ABCG5 exon 3 I/D homozygote; these represent the extreme ends of the spectrum of vascular involvement in sitosterolemia.
|
15375183 |
2004 |
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis.
|
24623560 |
2014 |
|
Sitosterolemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Against all odds: blended phenotypes of three single-gene defects.
|
26813946 |
2016 |
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
All showed mutations in the ABCG5 and ABCG8 previously linked to phytosterolaemia.
|
16029460 |
2005 |
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although not sufficient evidence exists to regard this sequence variation as a mutation, this previously unreleased sequence variation occurred in a "hot spot" area for sitosterolemia of the ABCG5 gene (exon 9) and the similar increased plasma plant sterol concentrations of the heterozygous mother contribute to the notion, that this very likely presents an inactivating mutation.
|
21664501 |
2011 |
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Based on the third variant, a stop variant in ABCG5 (p.(Arg446*)), we established a diagnosis of sitosterolemia, confirmed by elevated blood plant sterol levels and successfully initiated targeted lipid-lowering treatment.
|
26813946 |
2016 |
|
Sitosterolemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.
|
17976197 |
2007 |
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene.
|
28771437 |
2017 |
|
Sitosterolemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Cholestyramine is essential in the treatment of sitosterolemia (ABCG5/8 deficiency).
|
20034695 |
2010 |
|
Sitosterolemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children.
|
20521169 |
2010 |
|
Sitosterolemia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Congenital macrothrombocytopenia is a heterogeneous disorder in India.
|
27291889 |
2016 |
|
Sitosterolemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.
|
20719861 |
2010 |
|
Sitosterolemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases.
|
19111681 |
2009 |
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In addition, we also describe a novel missense mutation in exon 11 of the ABCG5 gene, which enriches the genetic mutation spectrum of sitosterolemia.
|
30782472 |
2020 |
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we here report the first case of a Mexican family with sitosterolemia carrying two new ABCG5 gene mutations.
|
26892138 |
2016 |
|
Sitosterolemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
In this regard, ABC transporters, such as ABCA1, ABCG5 and ABCG8, were initially found to be responsible for genetically-inherited syndromes like Tangier diseases and sitosterolemia.
|
28383515 |
2017 |
|
Sitosterolemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding.
|
25665839 |
2015 |
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, mutation of ABCG5 and or ABCG8 genes in man causes sitosterolemia, a rare genetic disease characterized by massive absorption of plant sterols and premature arteriosclerosis.
|
12911117 |
2003 |
|
Sitosterolemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Knockout mice deficient in Abcg5 or Abcg8 recapitulate many of the phenotypic features of sitosterolemia.
|
23180829 |
2013 |
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Literature review found another 30 pediatric cases with sitosterolemia due to ABCG5 gene mutation.
|
30985648 |
2019 |