|
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 |
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 |
BEFREE |
Four out of five patients with SLC2A2 mutations presented with isolated diabetes and later developed features of FBS.
|
22660720 |
2012 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The affected calves exhibit stunted growth, resembling the phenotypic appearance of Fanconi-Bickel syndrome in humans (OMIM 227810), which is also caused by mutations in SLC2A2.
|
25927203 |
2015 |
|
Fanconi-Bickel Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Four out of five patients with SLC2A2 mutations presented with isolated diabetes and later developed features of FBS.
|
22660720 |
2012 |
|
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 |
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 |
Fanconi-Bickel syndrome is a rare autosomal recessive disorder due to mutations in the facilitative glucose transporter 2 ( GLUT2 or SLC2A2) gene resulting in excessive glycogen storage predominantly in the liver and kidney.
|
28382841 |
2019 |
|
Fanconi-Bickel Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic variability in patients with fanconi-bickel syndrome with identical mutations.
|
24718840 |
2015 |
|
Fanconi-Bickel Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Fanconi-Bickel Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation.
|
27487919 |
2016 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In humans, inactivating mutations in GLUT2 cause Fanconi-Bickel syndrome, which is characterised by hepatomegaly and kidney disease; defects in insulin secretion are rare in adult patients, but GLUT2 mutations cause transient neonatal diabetes.
|
25421524 |
2015 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
[SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome].
|
25919556 |
2015 |
|
Fanconi-Bickel Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia.
|
22060631 |
2012 |
|
Fanconi-Bickel Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
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 |
Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family.
|
25523092 |
2015 |
|
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 |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Fanconi-Bickel Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant.
|
31473689 |
2019 |
|
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 |
GENOMICS_ENGLAND |
|
|
|
|
Fanconi-Bickel Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes encoding the pancreatic K<sub>ATP</sub> channels can also lead to different types of diabetes (including neonatal diabetes mellitus (NDM) and Maturity Onset Diabetes of the Young, MODY), and defects in the solute carrier family 2 member 2 (<i>SLC2A2</i>) leads to diabetes mellitus as part of the Fanconi-Bickel syndrome.
|
31137773 |
2019 |