Glycosuria, Renal
|
0.800 |
Biomarker
|
disease |
BEFREE |
Sodium-glucose cotransporter-2 (SGLT2) inhibitors are a novel class of drugs that lower glucose by inducing renal glycosuria.
|
30684076 |
2020 |
Glycosuria, Renal
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SLC5A2 gene are recently found to be responsible for the inherited renal glucosuria, while undifferentiated connective tissue disease (UCTD) was not considered pathogenic for renal glucosuria.
|
30558067 |
2018 |
Glycosuria, Renal
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
SLC5A2 and HNF1A mutations partially explain renal glycosuria in patients with T2DM.
|
28324025 |
2017 |
Glycosuria, Renal
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we present data on a large pedigree with renal glycosuria due to two mutations (c.300-303+2del and p.A343V) in the SLC5A2 gene.
|
26735923 |
2016 |
Glycosuria, Renal
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic analysis revealed a separate, undescribed heterozygous mutation (c.265G>A; p.A89T) in the sodium/glucose cotransporter 2-encoding gene SGLT2 (also known as SLC5A2) in the family that segregated with the renal glucosuria phenotype.
|
26376857 |
2016 |
Glycosuria, Renal
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel SLC5A2 variants contribute to renal glucosuria in Chinese families: abnormal expression and dysfunction of variant SLC5A2.
|
25339128 |
2015 |
Glycosuria, Renal
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Clinical and genetic analysis in a patient with primary renal glucosuria: Identification of a novel mutation in the SLC5A2 gene.
|
24255686 |
2013 |
Glycosuria, Renal
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
The probands were either heterozygous or compound heterozygous for SGLT2 mutations, and had glucosuria quantified at 6-27 g/day.
|
21165652 |
2011 |
Glycosuria, Renal
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.
|
18622023 |
2008 |
Glycosuria, Renal
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria.
|
15610225 |
2005 |
Glycosuria, Renal
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
These findings confirm that mutations in the SLC5A2 gene are responsible for recessive renal glucosuria.
|
14614622 |
2004 |
Glycosuria, Renal
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These findings confirm that mutations in the SLC5A2 gene are responsible for recessive renal glucosuria.
|
14614622 |
2004 |
Glycosuria, Renal
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Renal glucosuria due to SGLT2 mutations.
|
15110322 |
2004 |
Glycosuria, Renal
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
These findings confirm that mutations in the SLC5A2 gene are responsible for recessive renal glucosuria.
|
14614622 |
2004 |
Glycosuria, Renal
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of the SGLT2 gene in patients with renal glucosuria.
|
14569097 |
2003 |
Glycosuria, Renal
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Fourteen individuals (including the original patient with 'renal glucosuria type 0') were homozygous or compound heterozygous for an SGLT2 mutation resulting in glucosuria in the range of 14.6 to 202 g/1.73 m(2)/d (81 - 1120 mmol/1.73 m(2)/d).
|
14569097 |
2003 |
Glycosuria, Renal
|
0.800 |
Biomarker
|
disease |
BEFREE |
The Na(+)/glucose cotransporter gene SGLT2 (= SLC5A2) was analyzed in a Turkish patient with congenital isolated renal glucosuria.
|
12436245 |
2002 |
Glycosuria, Renal
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Glycosuria, Renal
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Humans with mutations in the SGLT2 gene show familial renal glucosuria.
|
31081587 |
2019 |
Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The present study provides a starting point for further investigation of the molecular pathogenesis of the SLC5A2 gene mutation in patients with FRG.
|
30942416 |
2019 |
Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
SLC5A2 gene mutations are responsible for most FRG cases.
|
30593819 |
2019 |
Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report the identification of a mutation in the solute carrier family 5 member 2 (SLC5A2) gene, which encodes sodium-glucose cotransporter 2, in a family with familial renal glucosuria.
|
31584752 |
2019 |
Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We also summarized the reported SLC5A2 mutations in the Chinese patients with FRG.
|
28365451 |
2017 |
Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Influence of Familial Renal Glycosuria Due to Mutations in the SLC5A2 Gene on Changes in Glucose Tolerance over Time.
|
26735923 |
2016 |