Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
cystinuria
Summary
- Definition
- An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.
- Super Class
- amino acid metabolic disorder bladder disease kidney disease ureteral disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q07837 | Amino acid transporter heavy chain SLC3A1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q91WV7 | Amino acid transporter heavy chain SLC3A1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000083 | Renal insufficiency |
| HP:0003297 | Hyperlysinuria |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003131 | Cystinuria |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0003268 | Argininuria |
| HP:0000010 | Recurrent urinary tract infections |
| HP:0003532 | Ornithinuria |
| HP:0000787 | Nephrolithiasis |
