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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 |
|---|---|---|
| Q9UJJ9 | N-acetylglucosamine-1-phosphotransferase subunit gamma | |
| Q9UK23 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001270 | Motor delay |
| HP:0001363 | Craniosynostosis |
| HP:0001376 | Limitation of joint mobility |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001537 | Umbilical hernia |
| HP:0001538 | Protuberant abdomen |
| HP:0001540 | Diastasis recti |
| HP:0001562 | Oligohydramnios |
| HP:0001609 | Hoarse voice |
| HP:0001633 | Abnormal mitral valve morphology |
