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mucolipidosis II alpha/beta
Summary
- Synonym
-
- I-cell disease
- inclusion-cell disease
- mucolipidosis II
- Definition
- A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene.
- Super Class
- mucolipidosis
External Links
- Disease Ontology
- DOID:0080070
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UJJ9 | N-acetylglucosamine-1-phosphotransferase subunit gamma | |
| Q9UK23 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003311 | Hypoplasia of the odontoid process |
| HP:0003333 | Increased serum beta-hexosaminidase |
| HP:0003414 | Atlantoaxial dislocation |
| HP:0003423 | Thoracolumbar kyphoscoliosis |
| HP:0003538 | Increased iduronate sulfatase level |
| HP:0003593 | Infantile onset |
| HP:0003819 | Death in childhood |
| HP:0004562 | Beaking of vertebral bodies T12-L3 |
| HP:0004626 | Lumbar scoliosis |
| HP:0006362 | Varus deformity of humeral neck |
