Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
mucopolysaccharidosis type IVB
Summary
- Synonym
-
- MPS IVB
- MPS4B
- Morquio disease type B
- Morquio syndrome B
- beta-D-galactosidase deficiency
- mucopolysaccharidosis type IVB (Morquio)
- Definition
- A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3.
- Super Class
- autosomal recessive disease mucopolysaccharidosis IV
External Links
- Disease Ontology
- DOID:0111392
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60502 | Protein O-GlcNAcase | |
| P10619 | Lysosomal protective protein | |
| P16278 | Beta-galactosidase | |
| P34059 | N-acetylgalactosamine-6-sulfatase | |
| P35475 | Alpha-L-iduronidase | |
| Q99519 | Sialidase-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002857 | Genu valgum |
| HP:0003016 | Metaphyseal widening |
| HP:0003049 | Ulnar deviation of the wrist |
| HP:0003053 | Epiphyseal deformities of tubular bones |
| HP:0003090 | Hypoplasia of the capital femoral epiphysis |
| HP:0003277 | Constricted iliac wing |
| HP:0003300 | Ovoid vertebral bodies |
| HP:0003307 | Hyperlordosis |
| HP:0003308 | Cervical subluxation |
| HP:0003311 | Hypoplasia of the odontoid process |
