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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
- MGI genotype (from TogoID)
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:0008936 | Axial hypotonia |
| HP:0010307 | Stridor |
| HP:0010444 | Pulmonary insufficiency |
| HP:0011314 | Abnormal long bone morphology |
| HP:0011359 | Dry hair |
| HP:0011364 | White hair |
| HP:0011471 | Gastrostomy tube feeding in infancy |
| HP:0012368 | Flat face |
| HP:0012389 | Appendicular hypotonia |
| HP:0030680 | Abnormal cardiovascular system morphology |
