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mucolipidosis III alpha/beta
Summary
- Synonym
-
- mucolipidosis III
- pseudo-Hurler polydystrophy
- Definition
- A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase.
- Super Class
- autosomal recessive disease mucolipidosis
External Links
- Disease Ontology
- DOID:0080071
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2720 | GLB1 | galactosidase beta 1 | |
| 10724 | OGA | O-GlcNAcase | |
| 51172 | NAGPA | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | |
| 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 |
|---|---|---|
| O60502 | Protein O-GlcNAcase | |
| P16278 | Beta-galactosidase | |
| Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta | |
| Q9UJJ9 | N-acetylglucosamine-1-phosphotransferase subunit gamma | |
| Q9UK23 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001609 | Hoarse voice |
| HP:0010471 | Oligosacchariduria |
| HP:0000470 | Short neck |
| HP:0002751 | Kyphoscoliosis |
| HP:0000293 | Full cheeks |
| HP:0001667 | Right ventricular hypertrophy |
| HP:0005280 | Depressed nasal bridge |
| HP:0001371 | Flexion contracture |
| HP:0000280 | Coarse facial features |
| HP:0002505 | Loss of ambulation |
