APRT, adenine phosphoribosyltransferase, 353

N. diseases: 384; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Adenine phosphoribosyltransferase deficiency
1.000 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Adenine phosphoribosyltransferase deficiency
1.000 Biomarker disease GENOMICS_ENGLAND Adenine phosphoribosyltransferase deficiency in children. 22212387 2012
Adenine phosphoribosyltransferase deficiency
1.000 GermlineCausalMutation disease ORPHANET Adenine phosphoribosyltransferase deficiency. 22700886 2012
Adenine phosphoribosyltransferase deficiency
1.000 AlteredExpression disease BEFREE The diagnostic tools available-including stone analysis, crystalluria, and APRT activity measurement-make the diagnosis easy to confirm when APRT deficiency is suspected. 22700886 2012
Adenine phosphoribosyltransferase deficiency
1.000 GeneticVariation disease UNIPROT A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene. 21635362 2011
Adenine phosphoribosyltransferase deficiency
1.000 Biomarker disease BEFREE We performed genetic screening for APRT*Q0 and APRT*J in two families and diagnosed three cases of APRT*Q0 /APRT*J compound heterozygote-type APRT deficiency. 20101413 2010
Adenine phosphoribosyltransferase deficiency
1.000 GeneticVariation disease BEFREE Results of the first patient harbouring the homozygous 254 bp deletion-8 bp insertion of the APRT gene strongly indicated that definitive diagnosis of APRT deficiency (often under or misdiagnosed) would require a combined clinical, biochemical and molecular biological evaluation. 17126311 2007
Adenine phosphoribosyltransferase deficiency
1.000 GeneticVariation disease BEFREE We investigated the APRT gene from three patients with APRT deficiency and two novel mutations, G133D and V84M, were determined. 15571218 2004
Adenine phosphoribosyltransferase deficiency
1.000 GeneticVariation disease UNIPROT We investigated the APRT gene from three patients with APRT deficiency and two novel mutations, G133D and V84M, were determined. 15571218 2004
Adenine phosphoribosyltransferase deficiency
1.000 CausalMutation disease CLINVAR 2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT. 11243733 2001
Adenine phosphoribosyltransferase deficiency
1.000 GeneticVariation disease UNIPROT 2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT. 11243733 2001
Adenine phosphoribosyltransferase deficiency
1.000 Biomarker disease MGD Sequential analysis of kidney stone formation in the Aprt knockout mouse. 11532086 2001
Adenine phosphoribosyltransferase deficiency
1.000 Biomarker disease MGD Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency. 9689017 1998
Adenine phosphoribosyltransferase deficiency
1.000 Biomarker disease BEFREE Patients 1 and 2 were compound heterozygotes for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0), and APRT activities were 4.5% and 4.0% of normal, respectively. 9255672 1997
Adenine phosphoribosyltransferase deficiency
1.000 Biomarker disease MGD We have generated an APRT-deficient mouse line by gene targeting, with a phenotype that closely resembled the symptoms of APRT deficiency in man. 8864750 1996
Adenine phosphoribosyltransferase deficiency
1.000 Biomarker disease MGD Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. 8643571 1996
Adenine phosphoribosyltransferase deficiency
1.000 Biomarker disease BEFREE We have previously shown that APRT deficiency in an APRT heterozygous human cell line, MR12-1, was predominantly caused by the loss of the remaining wild-type allele. 9067427 1996
Adenine phosphoribosyltransferase deficiency
1.000 GeneticVariation disease UNIPROT Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. 7915931 1994
Adenine phosphoribosyltransferase deficiency
1.000 GeneticVariation disease BEFREE A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan. 8455250 1993
Adenine phosphoribosyltransferase deficiency
1.000 GeneticVariation disease UNIPROT Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. 1353080 1992
Adenine phosphoribosyltransferase deficiency
1.000 Biomarker disease GENOMICS_ENGLAND Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. 1353080 1992
Adenine phosphoribosyltransferase deficiency
1.000 CausalMutation disease CLINVAR Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. 1353080 1992
Adenine phosphoribosyltransferase deficiency
1.000 GeneticVariation disease UNIPROT Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient. 1746557 1991
Adenine phosphoribosyltransferase deficiency
1.000 GeneticVariation disease BEFREE Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis. 2227934 1990
Adenine phosphoribosyltransferase deficiency
1.000 Biomarker disease BEFREE These data indicate that the wide distribution of the unique mutant gene, APRT*J, that was created many years ago in a Japanese ancestor, explains at least in part the large number of 2,8-dihydroxyadenine lithiasis and adenine phosphoribosyltransferase deficiency families among the Japanese. 3193517 1988