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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
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q61340 | Basic domain/leucine zipper transcription factor (Fragment) |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q5RGJ8 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004887 | Respiratory failure requiring assisted ventilation |
| HP:0005280 | Depressed nasal bridge |
| HP:0005487 | Prominent metopic ridge |
| HP:0006203 | Decreased movement range in interphalangeal joints |
| HP:0006248 | Limited wrist movement |
| HP:0006380 | Knee flexion contracture |
| HP:0006467 | Limited shoulder movement |
| HP:0006596 | Restricted chest movement |
| HP:0007421 | Telangiectases of the cheeks |
| HP:0008897 | Postnatal growth retardation |
