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Standards Ontologies Notations
Guidelines
MIRAGE
sialuria

Summary
Definition
A lysosomal storage disease characterized by increased sialic acid in the urine.
Super Class
lysosomal storage disease
Disease Ontology
DOID:3659
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
26503 SLC17A5 solute carrier family 17 member 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
235504 Slc17a5 solute carrier family 17 (anion/sugar transporter), member 5
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9NRA2 Sialin
Displaying 1 entry
UniProt ID Protein Name Source
Q8BN82 Sialin
The Human Phenotype Ontology
Displaying entries 61 - 69 of 69 in total
HPO ID HPO Term
HP:0002684 Thickened calvaria
HP:0001260 Dysarthria
HP:0000007 Autosomal recessive inheritance
HP:0000639 Nystagmus
HP:0001251 Ataxia
HP:0002540 Inability to walk
HP:0001257 Spasticity
HP:0001249 Intellectual disability
HP:0001510 Growth delay
Displaying all 2 entries
Gene ID Gene Symbol Description
10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
26503 SLC17A5 solute carrier family 17 member 5
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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

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Last updated: December 8, 2025