DISEASES

Disease-gene associations mined from literature

Human genes for adenine phosphoribosyltransferase deficiency

Adenine phosphoribosyltransferase deficiency [DOID:0060350]

An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern.

Synonyms:  adenine phosphoribosyltransferase deficiency,  DOID:0060350,  2,8-dihydroxyadenine urolithiasis,  APRT deficiency,  28dihydroxyadenine urolithiasis