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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 353 | APRT | adenine phosphoribosyltransferase | |
| 811 | CALR | calreticulin | |
| 1798 | DPAGT1 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | |
| 2990 | GUSB | glucuronidase beta | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 3482 | IGF2R | insulin like growth factor 2 receptor | |
| 5333 | PLCD1 | phospholipase C delta 1 | |
| 5335 | PLCG1 | phospholipase C gamma 1 | |
| 10724 | OGA | O-GlcNAcase | |
| 51172 | NAGPA | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
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:0001638 | Cardiomyopathy |
| HP:0001646 | Abnormal aortic valve morphology |
| HP:0001653 | Mitral regurgitation |
| HP:0001655 | Patent foramen ovale |
| HP:0001659 | Aortic regurgitation |
| HP:0001712 | Left ventricular hypertrophy |
| HP:0001744 | Splenomegaly |
| HP:0001762 | Talipes equinovarus |
| HP:0001824 | Weight loss |
| HP:0002091 | Restrictive ventilatory defect |
