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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
External Links
Disease Ontology
DOID:9266
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 63 in total
Gene ID Gene Symbol Description Source
28 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
34 ACADM acyl-CoA dehydrogenase medium chain
178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
189 AGXT alanine--glyoxylate aminotransferase
226 ALDOA aldolase, fructose-bisphosphate A
231 AKR1B1 aldo-keto reductase family 1 member B
353 APRT adenine phosphoribosyltransferase
1962 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
2027 ENO3 enolase 3
2203 FBP1 fructose-bisphosphatase 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 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
Related Glycoprotein
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
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: August 19, 2024