OBO ID: DOID:0060350
Term Name: adenine phosphoribosyltransferase deficiency Search Ontology:
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
  • NCI:C121564
  • OMIM:614723
  • SNOMEDCT_US_2022_03_01:11852004
  • UMLS_CUI:C0268120
  • UMLS_CUI:C3665382
Ontology: Human Disease   (DOID:0060350)
OTHER adenine phosphoribosyltransferase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
APRT Adenine phosphoribosyltransferase deficiency 614723
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None