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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001635 | Congestive heart failure |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0001640 | Cardiomegaly |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002196 | Myelopathy |
| HP:0002240 | Hepatomegaly |
| HP:0002299 | Brittle hair |
| HP:0002421 | Poor head control |
| HP:0002673 | Coxa valga |
| HP:0002684 | Thickened calvaria |
