|
Renal hypouricemia
|
|
0.750 |
GeneticVariation
|
BEFREE |
Among several reported nonsynonymous URAT1 variants, R90H (rs121907896) and W258X (rs121907892) are frequent causative mutations for renal hypouricemia.
|
26821810 |
2016 |
|
Renal hypouricemia
|
|
0.750 |
CausalMutation
|
CLINVAR |
We describe a 13-year-old boy with renal hypouricemia type 1 (serum uric acid, 0.9 mg/dL) with a homozygous W258X mutation in the SLC22A12 gene, presenting with EIAKI and PRES.
|
23525542 |
2013 |
|
Renal hypouricemia
|
|
0.750 |
GeneticVariation
|
BEFREE |
A case of exercise-induced acute renal failure with G774A mutation in SCL22A12 causing renal hypouricemia.
|
21935282 |
2011 |
|
Renal hypouricemia
|
|
0.750 |
CausalMutation
|
CLINVAR |
Serum uric acid distribution according to SLC22A12 W258X genotype in a cross-sectional study of a general Japanese population.
|
21366895 |
2011 |
|
Renal hypouricemia
|
|
0.750 |
GeneticVariation
|
BEFREE |
We also identified a common nonsense mutation, W258X, responsible for renal hypouricemia.
|
20714133 |
2010 |
|
Renal hypouricemia
|
|
0.750 |
CausalMutation
|
CLINVAR |
Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects.
|
19019168 |
2008 |
|
Renal hypouricemia
|
|
0.750 |
CausalMutation
|
CLINVAR |
The G774A mutation in the SLC22A12 gene encoding URAT1 predominates in Japanese renal hypouricemia.
|
18492088 |
2008 |
|
Renal hypouricemia
|
|
0.750 |
GeneticVariation
|
BEFREE |
The G774A mutation in the SLC22A12 gene encoding URAT1 predominates in Japanese renal hypouricemia.
|
18492088 |
2008 |
|
Renal hypouricemia
|
|
0.750 |
CausalMutation
|
CLINVAR |
Analysis of mutations in the urate transporter 1 (URAT1) gene of Japanese patients with hypouricemia in northern Japan and review of the literature.
|
16703794 |
2006 |
|
Renal hypouricemia
|
|
0.750 |
CausalMutation
|
CLINVAR |
W258X was found to be the predominant SLC22A12 mutation in Korean renal hypouricemia patients, as has been reported in Japan.
|
15912381 |
2005 |
|
Renal hypouricemia
|
|
0.750 |
GeneticVariation
|
BEFREE |
The present study demonstrates that homozygous W258X mutation is the predominant genetic cause of idiopathic renal hypouricemia in Japanese patients.
|
15054642 |
2004 |
|
Renal hypouricemia
|
|
0.750 |
CausalMutation
|
CLINVAR |
The present study demonstrates that homozygous W258X mutation is the predominant genetic cause of idiopathic renal hypouricemia in Japanese patients.
|
15054642 |
2004 |
|
Renal hypouricemia
|
|
0.750 |
CausalMutation
|
CLINVAR |
Two male siblings with hereditary renal hypouricemia and exercise-induced ARF.
|
14655203 |
2003 |
|
Renal hypouricemia
|
|
0.750 |
CausalMutation
|
CLINVAR |
Molecular identification of a renal urate anion exchanger that regulates blood urate levels.
|
12024214 |
2002 |
|
Uric acid measurement (procedure)
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.
|
29124443 |
2018 |
|
Hypouricemia
|
|
0.040 |
GeneticVariation
|
BEFREE |
Screening of just two ethnic-specific variants (p.Trp258* and p.Arg90His) identified 87.7% (71/81) of Korean patients with monogenic hypouricemia.
|
31591475 |
2019 |
|
Hypouricemia
|
|
0.040 |
GeneticVariation
|
BEFREE |
Hypouricemia is a disorder that serum urate level is less than 2.0 mg/dl, and relatively common in the Japanese population, where the main genetic cause of hypouricemia is W258X and R90H mutations in human urate trasnsporter 1(SLC22A12).
|
23148994 |
2013 |
|
Hypouricemia
|
|
0.040 |
GeneticVariation
|
BEFREE |
The W258X and/or R90H mutations in the SLC22A12 gene are one of the major factors responsible for hypouricaemia, and one-third of the hypouricaemic subjects had one or both of the mutant alleles.
|
19019168 |
2008 |
|
Hypouricemia
|
|
0.040 |
GeneticVariation
|
BEFREE |
These data are consistent with a recent finding that this G774A mutation was also predominant in Koreans with hypouricemia and indicate that the mutation originated on the Asian continent.
|
18492088 |
2008 |
|
Pre-renal acute kidney injury
|
|
0.030 |
GeneticVariation
|
BEFREE |
We here described a 25-yr-old man showing idiopathic renal hypouricemia with G774A mutation in SCL22A12 who presented exercise-induced acute renal failure.
|
21935282 |
2011 |
|
Kidney Failure, Acute
|
|
0.030 |
GeneticVariation
|
BEFREE |
We here described a 25-yr-old man showing idiopathic renal hypouricemia with G774A mutation in SCL22A12 who presented exercise-induced acute renal failure.
|
21935282 |
2011 |
|
Pre-renal acute kidney injury
|
|
0.030 |
GeneticVariation
|
BEFREE |
The patient had compound heterozygous mutations in the hURAT1 gene (R90H and W258X), but showed no clinical manifestations such as urolithiasis or exercise-induced acute renal failure.
|
17362586 |
2007 |
|
Kidney Failure, Acute
|
|
0.030 |
GeneticVariation
|
BEFREE |
The patient had compound heterozygous mutations in the hURAT1 gene (R90H and W258X), but showed no clinical manifestations such as urolithiasis or exercise-induced acute renal failure.
|
17362586 |
2007 |
|
Pre-renal acute kidney injury
|
|
0.030 |
GeneticVariation
|
BEFREE |
She had compound heterozygous mutations in this gene (W258X and IVS2+1G>A), nevertheless, she showed no clinical manifestations such as urolithiasis and exercise-induced acute renal failure.
|
16724660 |
2006 |
|
Kidney Failure, Acute
|
|
0.030 |
GeneticVariation
|
BEFREE |
She had compound heterozygous mutations in this gene (W258X and IVS2+1G>A), nevertheless, she showed no clinical manifestations such as urolithiasis and exercise-induced acute renal failure.
|
16724660 |
2006 |