Search Ontology:
Human Disease

adenine phosphoribosyltransferase deficiency

Term ID
DOID:0060350
Synonyms
  • 2,8-dihydroxyadenine urolithiasis
  • APRT deficiency
Definition
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. (5)
References
  • GARD:10666
  • GARD:546
  • MESH:C538228
  • MIM:614723
  • NCI:C121564
  • SNOMEDCT_US_2023_03_01:11852004
  • UMLS_CUI:C0268120
  • UMLS_CUI:C3665382
(all 8)
Ontology
Human Disease   ( DOID:0060350 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.