OMIA:002855 : Hypoxanthine guanine phosphoribosyltransferase deficiency

Categories: Renal / urinary system phene

Possible human homologues (MIM numbers): 300322 (trait) , 308000 (gene)

Cross-species summary: Variants in the HPRT gene result in a defective purine metabolism; in humans called Lesch-Nyhan syndrome.

Species in which this phene is found:
rabbit (Oryctolagus cuniculus)

Edit History


  • Created by Imke Tammen2 on 21 May 2024
  • Changed by Imke Tammen2 on 21 May 2024