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
- 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 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002808 | Kyphosis |
| HP:0003115 | Abnormal EKG |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003271 | Visceromegaly |
| HP:0003312 | Abnormal form of the vertebral bodies |
| HP:0003355 | Aminoaciduria |
| HP:0003461 | Increased urinary O-linked sialopeptides |
| HP:0004322 | Short stature |
| HP:0004554 | Generalized hypertrichosis |
| HP:0007750 | Hypoplasia of the fovea |
