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Adenine phosphoribosyltransferase deficiency

^ http://www.orpha.net/ORDO/Orphanet_976


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.

Synonyms: APRT deficiency, 2,8-dihydroxyadenine urolithiasis

Term info

database cross reference
  • ICD-10:E79.8 (Attributed)
  • UMLS:C0268120 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:E79.8 (NTBT (narrower term maps to a broader term))
  • OMIM:614723 (E (exact mapping (the terms and the concepts are equivalent)))
  • UMLS:C3665382 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

OMIM:614723, UMLS:C0268120, ICD-10:E79.8, UMLS:C3665382

notation

ORPHA:976