Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta | |
| Q99519 | Sialidase-1 | |
| Q9GZU1 | Mucolipin-1 | |
| Q9UJJ9 | N-acetylglucosamine-1-phosphotransferase subunit gamma |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O35657 | Sialidase-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000768 | Pectus carinatum |
| HP:0000943 | Dysostosis multiplex |
| HP:0000962 | Hyperkeratosis |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001288 | Gait disturbance |
| HP:0001324 | Muscle weakness |
| HP:0001336 | Myoclonus |
