Hyperuricemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Patients with deficient hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity present hyperuricemia and/or hyperuricosuria, with a variable degree of neurological manifestations.
|
29879316 |
2018 |
Hyperuricemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity causes Lesch Nyhan disease (LND), characterized by hyperuricemia, severe action dystonia, choreoathetosis, ballismus, cognitive and attention deficit and self-injurious behavior.
|
28782500 |
2017 |
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
X-linked hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency in an inherited disorder of purine metabolism is usually associated with the clinical manifestations of hyperuricemia.
|
25476133 |
2015 |
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutation of hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome, which is characterized by hyperuricemia, severe motor disability, and self-injurious behavior, or HPRT-related gout with hyperuricemia.
|
24940672 |
2014 |
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In all, we identified 13 novel mutations in Saudi Arabian HPRT-related hyperuricemia patients manifesting different levels of uric acid.
|
25136576 |
2014 |
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
CTD_human |
These results lead to the intriguing possibility that association between ALDH16A1 and HPRT1 may be required for optimal HPRT activity with disruption of this interaction possibly contributing to the hyperuricemia seen in ALDH16A1*2 carriers.
|
23348497 |
2013 |
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It is helpful for diagnosis of LND that sequencing analysis of HPRT1 gene is performed in male infant and juvenile with hyperuricaemia and neurologic dysfunction in Chinese.
|
24001192 |
2013 |
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Lesch-Nyhan disease is caused by deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) and is characterized by hyperuricemia, motor and cognitive disability, and self-injurious behavior.
|
23622405 |
2013 |
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
These results lead to the intriguing possibility that association between ALDH16A1 and HPRT1 may be required for optimal HPRT activity with disruption of this interaction possibly contributing to the hyperuricemia seen in ALDH16A1*2 carriers.
|
23348497 |
2013 |
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Alleles of the TCTA repeat in the 3rd intron of the HPRT gene were found to be associated with primary hyperuricemia; consequently, these alleles may be considered risk factors for primary hyperuricemia.
|
22194167 |
2011 |
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The defect causes three overlapping clinical syndromes: Lesch-Nyhan disease (LND; OMIM 300322), HPRT-related hyperuricaemia with neurologic dysfunction (HRND) and hyperuricaemia alone (HRH; OMIM 300322).
|
19016344 |
2008 |
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is an inborn error of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its partial phenotypes, HPRT-related hyperuricemia with neurologic dysfunction (HRND) and hyperuricemia alone.
|
17454734 |
2007 |
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two missense mutations (T124P and D185G) were detected in patients with HRH (HPRT-related hyperuricemia).
|
17027311 |
2007 |
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is an inborn error of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its partial phenotypes, HPRT-related hyperuricemia with neurologic dysfunction (HRND) and hyperuricemia alone.
|
17454734 |
2007 |
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
A new mutation in the HPRT gene has been determined in one patient with complete deficiency of erythrocyte activity, with hyperuricemia and gout but without Lesch-Nyhan disease.
|
16216473 |
2006 |
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A new mutation in the HPRT gene has been determined in one patient with complete deficiency of erythrocyte activity, with hyperuricemia and gout but without Lesch-Nyhan disease.
|
16216473 |
2006 |
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A patient with hyperuricaemia and gouty arthritis due to a new variant of hypoxanthine-guanine phosphoribosyltransferase is described.
|
15334740 |
2004 |
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding hypoxanthine-guanine phosphoribosyltransferase (HPRT) cause Lesch-Nyhan disease, which is characterized by hyperuricemia, severe motor disability, and self-injurious behavior.
|
15571220 |
2004 |
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Up to 25-30% of HPRT deficient patients, indicated as neurological variants or HPRT-related hyperuricemia with neurological dysfunction (HRND), may develop neurological manifestation, from mild to severe; the most serious ones manifesting in the devastating Lesch-Nyhan syndrome, characterized by choreoathetosis or self-mutilation.
|
12508781 |
2003 |
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HPRT gene cause a spectrum of diseases that ranges from hyperuricemia alone to hyperuricemia with profound neurological and behavioral dysfunction.
|
11336982 |
2001 |
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In humans, mutations in the gene encoding the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) are associated with a spectrum of disease that ranges from hyperuricemia alone to hyperuricemia with profound neurological and behavioral dysfunction.
|
11018746 |
2000 |
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We found that the HPRT(Tsou) gene variant is partially responsible for the hyperuricemia in an aboriginal population in Taiwan known for a high incidence of gout.
|
10451080 |
1999 |
Hyperuricemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Partial deficiency of this enzyme can result in the overproduction of uric acid leading to a severe form of gout, whilst a virtual absence of HPRT activity causes the Lesch-Nyhan syndrome which is characterised by hyperuricaemia, mental retardation, choreoathetosis and compulsive self-mutilation.
|
1487231 |
1992 |
Hyperuricemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Erythrocyte assays for hypoxanthine guanine phosphoribosyltransferase (HGPRT) activity performed on two male half-siblings with hyperuricemia, produced results consistent with classic Lesch-Nyhan syndrome.
|
3508703 |
1989 |
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase(HGPRT) is associated with a varying clinical picture which may include hyperuricaemia, neurological abnormalities and bizarre self-mutilating behaviour.
|
6796771 |
1981 |