Disease: Sitosterolemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342907
Disease: Sitosterolemia
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
CUI: C0342907
Disease: Sitosterolemia
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
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE Mutations in two tandem ABC genes, ABCG5 and ABCG8, encoding sterolin-1 and -2, respectively, are now known to be mutant in sitosterolemia. 11264985 2001
CUI: C0342907
Disease: Sitosterolemia
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
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease CLINVAR
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease UNIPROT This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia. 11668628 2001
CUI: C0342907
Disease: Sitosterolemia
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
CUI: C0342907
Disease: Sitosterolemia
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
CUI: C0342907
Disease: Sitosterolemia
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
CUI: C0342907
Disease: Sitosterolemia
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
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE Literature review found another 30 pediatric cases with sitosterolemia due to ABCG5 gene mutation. 30985648 2019
CUI: C0342907
Disease: Sitosterolemia
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
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE We describe a novel nonsense mutation in exon 10 of the ABCG5 gene in a 10-year-old girl showing clinical and biochemical features of sitosterolaemia. 17976197 2007
CUI: C0342907
Disease: Sitosterolemia
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
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE Two genes, ABCG5 and ABCG8, comprise the STSL and mutations in either cause sitosterolemia. 16507104 2006
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE All showed mutations in the ABCG5 and ABCG8 previously linked to phytosterolaemia. 16029460 2005
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE We present the first case of sitosterolemia caused by double heterozygous mutations in adenosine triphosphate-binding cassette subfamily G members 5 and 8 (ABCG5 and ABCG8) genes. 30007774 2019
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease UNIPROT We now report that a new member of the ABC transporter family, ABCG5, is mutant in nine unrelated sitosterolemia patients. 11138003 2001
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia. 11668628 2001
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease UNIPROT We conclude that the majority of the molecular defects in G5 and G8 that cause sitosterolemia impair transport of the sterol transporter to the cell surface. 15054092 2004
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE The mutations in ABCG5 and ABCG8 genes, encoding sterolin-1 and -2, respectively, are responsible for phytosterolemia. 19111681 2009
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE We report clinical, biochemical, and molecular genetic observations and treatment outcomes for five Chinese children from four separate families presenting with sitosterolemia in whom we identified two new (Y329X, G269R) and three known (R446X, N437K, R389H) mutations in the ABCG5 gene. 20521169 2010
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE The gene(s) causing sitosterolaemia was mapped to the STSL locus on human chromosome 2p21, and mutations in either of the two genes that comprise this locus, ABCG5 or ABCG8, cause this disease. 18441155 2008
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE Objectives To report two novel ABCG5 variants causing STSL in a Spanish patient, and review the clinical and mutational landscape of STSL. 28696550 2017
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE We identified seven different mutations in two adjacent, oppositely oriented genes that encode new members of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family (six mutations in ABCG8 and one in ABCG5) in nine patients with sitosterolemia. 11099417 2000