cystinuria type A
MONDO:0019745Mondo
Findings
No curated finding names cystinuria type A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC3A1HGNC:11025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of