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
• NCI:C121564
• OMIM:614723
• SNOMEDCT_US_2023_03_01:11852004
• UMLS_CUI:C0268120
• UMLS_CUI:C3665382

Ontology

Human Disease   ( DOID:0060350 )