OMIA 000256 : Cystinuria, type I - A
Category: Renal / urinary system phene
Links to MONDO diseases: No links.
Cross-species summary: The name of this entry has been changed from type A to follow the new expanded classification system for cystinuria suggested by Brons et al. (2013): "type I cystinuria when the disease shows autosomal recessive inheritance, type II when it shows autosomal dominant inheritance, and type III for sex-limited inheritance. . . . Involvement of the SLC3A1 gene is indicated by adding A, and similarly B indicates mutations in SLC7A9".
- Created by Frank Nicholas on 03 May 2005
- Changed by Frank Nicholas on 15 Sep 2012
- Changed by Frank Nicholas on 06 Sep 2013
- Changed by Frank Nicholas on 04 Aug 2016
- Changed by Imke Tammen2 on 13 Sep 2021