Lesch-Nyhan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Complete hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency causes the Lesch-Nyhan syndrome, an X-linked, purine metabolism disorder manifested by hyperuricemia, hyperuricaciduria, and neurologic dysfunction.
|
2018042 |
1991 |
Lesch-Nyhan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We have determined the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT; HPRT1) deficiency in eight Lesch-Nyhan patients and in five partially HPRT deficient patients with mild to severe neurologic symptoms.
|
10737990 |
2000 |
Lesch-Nyhan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Missense mutations in hypoxanthine phosphoribosyl transferase 1 (HPRT1) are associated with deficiencies such as Lesch-Nyhan disease and chronic gout, which have manifestations such as arthritis, neurodegeneration, and cognitive disorders.
|
30831305 |
2019 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the case of a family with 4 affected males and several female obligate carriers.In 1989, Fujimori et al. reported on a patient diagnosed with LNS who had an HPRT variant thereafter codenamed HPRTYale.
|
27420966 |
2016 |
Lesch-Nyhan Syndrome
|
1.000 |
Biomarker
|
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 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Lesch-Nyhan disease (LND) is a rare X-linked recessive genetic disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme.
|
16826447 |
2006 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Lesch-Nyhan disease (LND) is a rare inherited disorder caused by mutations in the gene encoding hypoxanthine-guanine phosphoribosyltransferase (HPRT).
|
19259384 |
2009 |
Lesch-Nyhan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Most notably, our data show that the expression of the exchange protein activated by cAMP (EPAC) is blunted in HPRT-deficient human neuron-like cell lines and fibroblast cells from LNS patients, and is altered in the cortex, striatum and midbrain of HPRT knockout mouse.
|
23804752 |
2013 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the current review, we highlight the role of miRNAs in Lesch-Nyhan disease (LND), a rare neurogenetic syndrome caused by mutations in the purine metabolic gene encoding the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme.
|
26296934 |
2015 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Lesch-Nyhan syndrome in an Indian family with novel mutation in the HPRT1 gene.
|
22183764 |
2012 |
Lesch-Nyhan Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Patients with HPRT deficiency present low or undetectable HPRT activity in hemolysates, with increased adenine phosphoribosyltransferase (APRT) activity.
|
28782500 |
2017 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Lesch-Nyhan syndrome is an X-linked recessive disorder caused by molecular defects within the HPRT gene.
|
8232348 |
1993 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Lesch-Nyhan disease (LND) is an X-linked genetic disorder caused by mutations of the hypoxanthine guanine phosphoribosyltransferase (HPRT) purine biosynthesis gene and characterized by aberrant purine metabolism, deficient basal ganglia dopamine levels, dystonia, and severe neurobehavioral manifestations, including compulsive self-injurious behavior.
|
22331909 |
2012 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report on a case of Lesch-Nyhan syndrome with a 33-kb deletion involving exon 1 of HPRT1.
|
22132985 |
2011 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A healthy female with a brother suffering from Lesch-Nyhan syndrome was assigned a carrier status on the basis of haplotype analysis employing flanking and intragenic polymorphic markers of the HPRT gene.
|
15386453 |
2004 |
Lesch-Nyhan Syndrome
|
1.000 |
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 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular description of three macro-deletions and an Alu-Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease.
|
11336982 |
2001 |
Lesch-Nyhan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Because aberrant expression of miR181a is not as apparent in HPRT-deficient LND fibroblasts, the relevance of the SH-SY5Y neuroblastoma cells to human disease remains to be proven.
|
22042773 |
2012 |
Lesch-Nyhan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
A 6-year-old boy was determined to have partial hypoxanthine phosphoribosyl transferase (HPRT) enzyme deficiency without the phenotypic features of Lesch-Nyhan syndrome.
|
11891689 |
2002 |
Lesch-Nyhan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Neurological manifestations in Lesch-Nyhan disease (LND) are attributed to the effect of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency on the nervous system development.
|
25940910 |
2015 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutation of hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome or HPRT-related gout.
|
20544509 |
2010 |
Lesch-Nyhan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Adenosine transport in HPRT deficient lymphocytes from Lesch-Nyhan disease patients.
|
15571229 |
2004 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutations in the human HPRT1 gene result in three different phenotypes: Lesch-Nyhan syndrome (LNS or LND), LND variants, and HPRT-related hyperuricemia (HRH).
|
15146465 |
2004 |
Lesch-Nyhan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Hypoxanthine-guanine phosphoribosyltransferase is virtually inactive in erythrocytes from patients with the classical Lesch-Nyhan syndrome.
|
4322125 |
1971 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The HPRTMidland mutation affects a different domain of HPRT than the HPRTFlint mutation located at 167 nt away.
|
3265398 |
1988 |