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
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
Standards Ontologies Notations
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
Disease Ontology
DOID:9266
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6519 SLC3A1 solute carrier family 3 member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
20532 Slc3a1 solute carrier family 3, member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
29484 Slc3a1 solute carrier family 3 member 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
35824 Mal-A1 Maltase A1
35825 Mal-A2 Maltase A2
35826 Mal-A3 Maltase A3
Displaying all 2 entries
Gene ID Gene Symbol Description Source
175125 atgp-2 Aamy domain-containing protein;Glycosyl hydrolase family 13 catalytic domain-containing protein
178504 atgp-1 Aamy domain-containing protein;alpha-glucosidase
Displaying all 7 entries
Gene ID Gene Symbol Description Source
852602 MAL32 alpha-glucosidase MAL32
853204 IMA1 oligo-1,6-glucosidase IMA1
853209 MAL12 alpha-glucosidase MAL12
853214 IMA5 oligo-1,6-glucosidase IMA5
853235 IMA4 oligo-1,6-glucosidase IMA4
854008 IMA2 oligo-1,6-glucosidase IMA2
854635 IMA3 oligo-1,6-glucosidase IMA3
The Human Phenotype Ontology
Displaying all 9 entries
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
Displaying 1 entry
Gene ID Gene Symbol Description
6519 SLC3A1 solute carrier family 3 member 1
About Release Notes Help Feedback

Click here to visit the beta site.

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International

GlyCosmos Portal v4.1.0

Last updated: December 9, 2024