glycoproteinosis

Summary
Synonym
  • Mucolipidosis type I
  • sialidosis
Definition
A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).
Super Class
mucolipidosis
External Links
Disease Ontology
DOID:3343
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 22 in total
Gene ID Gene Symbol Description Source
353 APRT adenine phosphoribosyltransferase
811 CALR calreticulin
1118 CHIT1 chitinase 1
1589 CYP21A2 cytochrome P450 family 21 subfamily A member 2
1717 DHCR7 7-dehydrocholesterol reductase
1798 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
2519 FUCA2 alpha-L-fucosidase 2
2720 GLB1 galactosidase beta 1
2990 GUSB glucuronidase beta
3073 HEXA hexosaminidase subunit alpha
Displaying all 2 entries
Gene ID Gene Symbol Description Source
18010 Neu1 neuraminidase 1
214505 Gnptg N-acetylglucosamine-1-phosphotransferase, gamma subunit
Related Glycoprotein
Displaying entry 21 - 21 of 21 in total
UniProt ID Protein Name Source
Q9UK23 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
The Human Phenotype Ontology
Displaying entries 91 - 94 of 94 in total
HPO ID HPO Term
HP:0010655 Epiphyseal stippling
HP:0001922 Vacuolated lymphocytes
HP:0000282 Facial edema
HP:0001638 Cardiomyopathy
Displaying 1 entry
Gene ID Gene Symbol Description
4758 NEU1 neuraminidase 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 v4.0.0

Last updated: August 19, 2024