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 / Organisms
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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4758 | NEU1 | neuraminidase 1 | |
| 55283 | MCOLN3 | mucolipin TRP cation channel 3 | |
| 57192 | MCOLN1 | mucolipin TRP cation channel 1 | |
| 79158 | GNPTAB | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | |
| 84572 | GNPTG | N-acetylglucosamine-1-phosphate transferase subunit gamma |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta | |
| Q99519 | Sialidase-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000179 | Thick lower lip vermilion |
| HP:0000280 | Coarse facial features |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000431 | Wide nasal bridge |
| HP:0000488 | Retinopathy |
| HP:0000505 | Visual impairment |
| HP:0000518 | Cataract |
| HP:0000529 | Progressive visual loss |
| HP:0000639 | Nystagmus |
| HP:0000762 | Decreased nerve conduction velocity |
