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 21 - 22 of 22 in total
Gene ID Gene Symbol Description Source
79158 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
84572 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma
Displaying all 2 entries
Gene ID Gene Symbol Description Source
18010 Neu1 neuraminidase 1
214505 Gnptg N-acetylglucosamine-1-phosphotransferase, gamma subunit
The Human Phenotype Ontology
Displaying entries 1 - 10 of 94 in total
HPO ID HPO Term
HP:0000023 Inguinal hernia
HP:0000077 Abnormality of the kidney
HP:0000179 Thick lower lip vermilion
HP:0000212 Gingival overgrowth
HP:0000238 Hydrocephalus
HP:0000256 Macrocephaly
HP:0000280 Coarse facial features
HP:0000348 High forehead
HP:0000365 Hearing impairment
HP:0000369 Low-set ears
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