You are using an outdated browser. Please upgrade your browser to improve your experience.

adenine phosphoribosyltransferase deficiency

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.
Uniprot Description An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0013869:  adenine phosphoribosyltransferase deficiency
GARD:0000546: 
GARD:0010666: 
MESH:C538228: 
NCIT:C121564: 
Orphanet:976: 
SCTID:124274002: 
UMLS:C0268120: