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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 12/06/2006
Symbol APRT
Location 16q24.3
Name urolithiasis
Corresponding gene APRT
Main clinical features
  • characteried by 2.5 dihydroxyadenine precipitation and stone formation may be asymptomatic or heading to renal failure, controlled with allopurinol, exceptional case(s) in compound heterozygotes
  • Genetic determination autosomal dominant
    Function/system disorder kidney and urinary tract
    Type disease
    Gene product
    Name adenine phosphoribosyltransferase