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
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

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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