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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 |
|---|---|---|---|
| 3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
| 3423 | IDS | iduronate 2-sulfatase | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 3482 | IGF2R | insulin like growth factor 2 receptor | |
| 4758 | NEU1 | neuraminidase 1 | |
| 5333 | PLCD1 | phospholipase C delta 1 | |
| 5335 | PLCG1 | phospholipase C gamma 1 | |
| 5476 | CTSA | cathepsin A | |
| 10724 | OGA | O-GlcNAcase | |
| 51172 | NAGPA | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UK23 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
- 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 |
