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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:0001650 | Aortic valve stenosis |
| HP:0001653 | Mitral regurgitation |
| HP:0001776 | Bilateral talipes equinovarus |
| HP:0002091 | Restrictive ventilatory defect |
| HP:0002240 | Hepatomegaly |
| HP:0002318 | Cervical myelopathy |
| HP:0002650 | Scoliosis |
| HP:0002673 | Coxa valga |
| HP:0002788 | Recurrent upper respiratory tract infections |
| HP:0002808 | Kyphosis |
