sialuria

Summary
Definition
A lysosomal storage disease characterized by increased sialic acid in the urine.
Super Class
lysosomal storage disease
External Links
Disease Ontology
DOID:3659
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 10 entries
Gene ID Gene Symbol Description Source
1048 CEACAM5 CEA cell adhesion molecule 5
1118 CHIT1 chitinase 1
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5973 RENBP renin binding protein
10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
26503 SLC17A5 solute carrier family 17 member 5
27306 HPGDS hematopoietic prostaglandin D synthase
Displaying 1 entry
Gene ID Gene Symbol Description Source
50798 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
114711 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 69 in total
HPO ID HPO Term
HP:0001433 Hepatosplenomegaly
HP:0008151 Prolonged prothrombin time
HP:0000629 Periorbital fullness
HP:0002487 Hyperkinetic movements
HP:0000316 Hypertelorism
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0001256 Intellectual disability, mild
HP:0012103 Abnormality of the mitochondrion
HP:0001999 Abnormal facial shape
HP:0000280 Coarse facial features
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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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