|
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 |
BEFREE |
Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene.
|
22145468 |
2011 |
|
Fanconi-Bickel Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene.
|
22145468 |
2011 |
|
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 |
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 |
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 |
BEFREE |
No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome.
|
12700970 |
2003 |
|
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 |
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 |
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 |
Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia.
|
12029458 |
2002 |
|
Fanconi-Bickel Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
However, complete GLUT2 deficiency in humans leads to hepato-renal glycogenosis (Fanconi-Bickel syndrome), and heterozygous GLUT2 mutations apparently behave in a recessive manner.
|
11485019 |
2001 |
|
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 |
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 |
UNIPROT |
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 |
Rather, they provide further evidence that Fanconi-Bickel syndrome is caused by GLUT2 mutations.
|
10987651 |
1999 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The transient course, and results of a molecular analysis of the glucose transporter 2 (Glut2) gene seem to rule out Fanconi-Bickel syndrome.
|
10526252 |
1999 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Rather, they provide further evidence that Fanconi-Bickel syndrome is caused by GLUT2 mutations.
|
10987651 |
1999 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism recently demonstrated to be caused by mutations in Glut2, the gene for the glucose transporter protein 2 expressed in liver, pancreas, intestine and kidney.
|
9809815 |
1998 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Because all detected mutations (delta T446-449, C1251T and C1405T) predict truncated translation products that cannot be expected to have functional monosaccharide transport activity, GLUT2 mutations are probably the cause of FBS.
|
9354798 |
1997 |
|
Fanconi-Bickel Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Because all detected mutations (delta T446-449, C1251T and C1405T) predict truncated translation products that cannot be expected to have functional monosaccharide transport activity, GLUT2 mutations are probably the cause of FBS.
|
9354798 |
1997 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Fanconi-Bickel Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Fanconi-Bickel Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|