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 11 - 20 of 22 in total
Gene ID Gene Symbol Description Source
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1
3423 IDS iduronate 2-sulfatase
3425 IDUA alpha-L-iduronidase
3482 IGF2R insulin like growth factor 2 receptor
4758 NEU1 neuraminidase 1
5333 PLCD1 phospholipase C delta 1
5335 PLCG1 phospholipase C gamma 1
5476 CTSA cathepsin A
10724 OGA O-GlcNAcase
51172 NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
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 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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024