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
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 31 - 40 of 94 in total
HPO ID HPO Term
HP:0001251 Ataxia
HP:0001252 Hypotonia
HP:0001257 Spasticity
HP:0001263 Global developmental delay
HP:0001270 Motor delay
HP:0001288 Gait disturbance
HP:0001310 Dysmetria
HP:0001324 Muscle weakness
HP:0001336 Myoclonus
HP:0001337 Tremor
Displaying 1 entry
Gene ID Gene Symbol Description
4758 NEU1 neuraminidase 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