Human genes for adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency [DOID:0060350]
A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24.
Synonyms: adenine phosphoribosyltransferase deficiency, adenine phosphoribosyltransferase deficiencies, DOID:0060350, 2,8-dihydroxyadenine urolithiasis, APRT deficiency ...