cystinuria
MONDO:0009067Mondo
Findings
No curated finding names cystinuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.
Definition from the Mondo Disease Ontology (MONDO:0009067), read 2026-09-29. CC BY 4.0.
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of amino acid metabolismHPOHP:0004337
- Very frequent (80% to 99% of cases)
- CystinuriaHPOHP:0003131
- Very frequent (80% to 99% of cases)
- HematuriaHPOHP:0000790
- Very frequent (80% to 99% of cases)
- Kidney stoneHPOHP:0000787
- Very frequent (80% to 99% of cases)
- Abnormal urinary odorHPOHP:0012088
- Frequent (30% to 79% of cases)
- Cystine crystalluriaHPOHP:0033067
- Frequent (30% to 79% of cases)
- Flank painHPOHP:0030157
- Frequent (30% to 79% of cases)
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
- HyperuricemiaHPOHP:0002149
- Frequent (30% to 79% of cases)
- HypocitraturiaHPOHP:0012405
- Frequent (30% to 79% of cases)
- Nausea and vomitingHPOHP:0002017
- Frequent (30% to 79% of cases)
- Renal insufficiencyHPOHP:0000083
- Frequent (30% to 79% of cases)
Show the remaining 3
- Echogenic fetal colonHPOHP:6000916
- Occasional (5% to 29% of cases)
- HypercalciuriaHPOHP:0002150
- Occasional (5% to 29% of cases)
- HyperuricosuriaHPOHP:0003149
- Occasional (5% to 29% of cases)
Genes
2 genes
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
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- SLC7A9HGNC:11067
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- Narrower terms (2)
Other names
2 names
Resolves to: cystinuria
- Also called
- cystinuria (disease)cystinuria-lysinuria syndrome