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Glycan Structure Repository
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Repository for lectin-assisted multimodality data
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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:0002086 | Abnormality of the respiratory system |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002240 | Hepatomegaly |
| HP:0002505 | Loss of ambulation |
| HP:0003271 | Visceromegaly |
| HP:0004554 | Generalized hypertrichosis |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0009891 | Underdeveloped supraorbital ridges |
| HP:0010808 | Protruding tongue |
| HP:0010864 | Intellectual disability, severe |
