|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.
|
28045594 |
2017 |
|
Gout, HPRT-Related
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Gout, HPRT-Related
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Partial HPRT Deficiency with a Novel Mutation of the HPRT Gene in Combination with Four Previously Reported Variants Associated with Hyperuricemia.
|
26073243 |
2015 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
|
24940672 |
2014 |
|
Gout, HPRT-Related
|
0.800 |
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 |
|
Gout, HPRT-Related
|
0.800 |
Biomarker
|
disease |
CTD_human |
ALDH16A1 is a novel non-catalytic enzyme that may be involved in the etiology of gout via protein-protein interactions with HPRT1.
|
23348497 |
2013 |
|
Gout, HPRT-Related
|
0.800 |
Biomarker
|
disease |
BEFREE |
Inherited mutation of a purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT), gives rise to Lesch-Nyhan Syndrome (LNS) or HPRT-related gout.
|
21780909 |
2011 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation.
|
22132984 |
2011 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In four hyperuricemic patients with mild neurological abnormality, no mutations responsible for partial HPRT deficiency were identified in HPRT1.
|
20544509 |
2010 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
|
20544509 |
2010 |
|
Gout, HPRT-Related
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
In the present study we present four patients with partial HPRT deficiency and one patient with Lesch-Nyhan syndrome who showed a normal HPRT coding sequence and markedly decreased HPRT mRNA expression.
|
18316217 |
2008 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutation of hypoxanthine guanine phosphoribosyltransferase, (HPRT) gives rise to Lesch-Nyhan syndrome or HPRT-related gout.
|
18600506 |
2008 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.
|
17027311 |
2007 |
|
Gout, HPRT-Related
|
0.800 |
Biomarker
|
disease |
BEFREE |
After performing purine metabolic studies, it was determined that the two siblings suffered from partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (Kelley-Seegmiller syndrome).
|
16245252 |
2005 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe an 18-year follow-up of a 5-year old boy with partial HPRT deficiency and report a novel mutation in his HPRT gene.
|
15965771 |
2005 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
|
15571223 |
2004 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutation of hypoxanthine guanine phosphoribosyltransferase, (HPRT) gives rise to Lesch-Nyhan syndrome or HPRT-related gout.
|
15571223 |
2004 |
|
Gout, HPRT-Related
|
0.800 |
Biomarker
|
disease |
BEFREE |
In some HPRT-deficient patients the enzyme defect appeared to be "partial" and the neurologic symptoms mild to severe (Kelley-Seegmiller syndrome).
|
11307586 |
2001 |
|
Gout, HPRT-Related
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations.
|
10657589 |
2000 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations.
|
10657589 |
2000 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.
|
11018746 |
2000 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Carrier testing was performed in 35 women belonging to 16 unrelated Spanish families with at least one subject affected by the Lesch-Nyhan syndrome (11 families, 14 patients) or the Kelley-Seegmiller syndrome (five families, six patients) by means of HPRT and adenine phosphoribosyltransferase activities in hair follicles and/or molecular studies.
|
9824441 |
1998 |
|
Gout, HPRT-Related
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
|
9288634 |
1997 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities.
|
7987318 |
1994 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although these 'evolutionary conserved' amino acids account for only 32% of the amino acids in the human hprt protein, they are involved in 76% of the missense mutations at the hprt locus in human T-lymphocytes, 67% in Lesch-Nyhan patients (with severe hprt-deficiency), but only 43% in gout patients (with partial hprt deficiency).
|
1306134 |
1992 |