|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We also detected two novel mutations (Val67Met and Leu19Arg) in children with syndromic forms of diabetes like Berardinelli Seip syndrome [1-acyl-sn-glycerol-3-phosphate acyltransferase beta (AGPAT2)] and Fanconi Bickel syndrome [solute carrier family 2A2 (SLC2A2)].
|
22831748 |
2013 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
In both families, genetic mapping and sequence analysis of candidate genes led to the identification of two novel homozygous mutations (IVS4-2A>G and R124S, respectively) in GLUT2, the gene mutated in Fanconi-Bickel syndrome, a rare disease usually characterized by renal tubulopathy, impaired glucose homeostasis, and hepatomegaly.
|
22865906 |
2012 |
|
Fanconi-Bickel Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights.
|
25165176 |
2014 |
|
Fanconi-Bickel Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
GLUT2 dysfunction is associated with several pathologies, including Fanconi-Bickel syndrome, a glycogen storage disease, characterized by growth retardation and renal dysfunction.
|
29218530 |
2018 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our goal was to functionally characterize rare SLC2A2 variants found in FBS and metabolic disease-associated variants to understand the impact of these variants on GLUT2 activity and expression and establish genotype-phenotype correlations.
|
30950137 |
2019 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In both families, genetic mapping and sequence analysis of candidate genes led to the identification of two novel homozygous mutations (IVS4-2A>G and R124S, respectively) in GLUT2, the gene mutated in Fanconi-Bickel syndrome, a rare disease usually characterized by renal tubulopathy, impaired glucose homeostasis, and hepatomegaly.
|
22865906 |
2012 |
|
Fanconi-Bickel Syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
In a high percentage (74%) of FBS patients, the mutation is homozygous, so we conclude that the prevalence of SLC2A2 mutations is relatively low in most populations.
|
11810292 |
2002 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The Fanconi-Bickel syndrome is caused by homozygosity or compound heterozygosity for mutations of the facilitated glucose transporter 2 gene (GLUT2).
|
16288895 |
2005 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.
|
15243984 |
2004 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These results support the correlation between GLUT2 gene mutation and FBS syndrome.
|
10697967 |
2000 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A rare mutation in GLUT-2 gene suggestive of Fanconi Bickel Syndrome.
|
27771652 |
2016 |
|
Fanconi-Bickel Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Several mutations in a gene encoding a glucose transporter, GLUT2, have recently been reported in patients with FBS.
|
11044475 |
2000 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.
|
22214819 |
2012 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Rather, they provide further evidence that Fanconi-Bickel syndrome is caused by GLUT2 mutations.
|
10987651 |
1999 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sequence analysis showed that the patient was homozygous for a known null mutation in GLUT2, confirming the clinical diagnosis of FBS.
|
17539904 |
2007 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome.
|
12700970 |
2003 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Fanconi-Bickel syndrome.
|
21327337 |
2012 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In a high percentage (74%) of FBS patients, the mutation is homozygous, so we conclude that the prevalence of SLC2A2 mutations is relatively low in most populations.
|
11810292 |
2002 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Fanconi-Bickel syndrome - mutation in SLC2A2 gene.
|
24912437 |
2014 |
|
Fanconi-Bickel Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in SGLT1 are associated with glucose-galactose malabsorption, SGLT2 with familial renal glucosuria (FRG), and GLUT2 with Fanconi-Bickel syndrome.
|
19965550 |
2010 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering.
|
22350464 |
2012 |
|
Fanconi-Bickel Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
In a high percentage (74%) of FBS patients, the mutation is homozygous, so we conclude that the prevalence of SLC2A2 mutations is relatively low in most populations.
|
11810292 |
2002 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Direct sequencing of genomic DNA confirmed a diagnosis of Fanconi-Bickel syndrome, revealing a G-to-A substitution at position -1 of the splicing acceptor site in intron 1 of the GLUT2 gene in a homozygous pattern (c.16-1G>A or IVS1-1G>A).
|
21625891 |
2011 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Several mutations in a gene encoding a glucose transporter, GLUT2, have recently been reported in patients with FBS.
|
11044475 |
2000 |