Disease: Lesch-Nyhan Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
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
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
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
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
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
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		1.000 GeneticVariation disease UNIPROT Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. 2347587 1990
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
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
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		1.000 GeneticVariation disease BEFREE Lesch-Nyhan syndrome in an Indian family with novel mutation in the HPRT1 gene. 22183764 2012
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		1.000 GeneticVariation disease UNIPROT The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations. 9452051 1998
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
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
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
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
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
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
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
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
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
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
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
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
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		1.000 GeneticVariation disease UNIPROT Sequencing analysis of the amplified DNA from three different patients with HPRT deficiency implied three unique molecular abnormalities: 1) one single-base substitution at codon 54 (from ATG to CTG) resulting in the replacement of methionine with leucine in an LN patient, 2) two single-base substitutions at codon 179 (from GTT to GGT) and at codon 180 (from GGA to AGA) resulting in the replacement of valine with glycine and glycine with arginine in a gouty patient, and 3) 51 nucleotide deletion between nucleotides 747 and 797 resulting in the formation of shorter sized HPRT mRNA and putative two amino-acid deleted HPRT protein in another gouty patient. 2572141 1989
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
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
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
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
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		1.000 GeneticVariation disease LHGDN In contrast with the most severe phenotype of classical Lesch-Nyhan disease (LND), the least severe phenotype is characterized by hyperuricemia without any neurological or behavioral abnormality, and designated HPRT-related hyperuricemia (HRH). 18409516 2008
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
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
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		1.000 GeneticVariation disease BEFREE Mutation analysis revealed a deletion of exon 2 and 3 of the HPRT gene confirming the diagnosis of Lesch-Nyhan Disease (LND). 27185581 2016
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		1.000 GeneticVariation disease LHGDN Lesch-Nyhan disease in a female with a clinically normal monozygotic twin. 15862283 2005
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		1.000 GeneticVariation disease BEFREE Mutations in the X chromosome hypoxanthine-guanine phosphoribosyl transferase (HPRT) gene are responsible for Lesch-Nyhan syndrome and related diseases in humans. 15140374 2004
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		1.000 GeneticVariation disease BEFREE The patient was diagnosed with Lesch-Nyhan disease and showed a new mutation, a deletion of two bases in exon 3 of the HPRT gene (c.269-270delAT). 17416296 2007
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		1.000 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
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		1.000 GeneticVariation disease UNIPROT Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures. 2358296 1990
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		1.000 GeneticVariation disease BEFREE We report here a newly identified HPRT mutation in a Japanese patient with Lesch-Nyhan syndrome. 1282899 1992