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mucopolysaccharidosis IVA
Summary
- Synonym
-
- GALNS deficiency
- MPS IVA
- MPS4A
- Morquio A disease
- Morquio syndrome A
- Definition
- A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3.
- Super Class
- autosomal recessive disease mucopolysaccharidosis IV
External Links
- Disease Ontology
- DOID:0111391
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16278 | Beta-galactosidase | |
| P34059 | N-acetylgalactosamine-6-sulfatase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003621 | Juvenile onset |
| HP:0006532 | Recurrent pneumonia |
| HP:0007759 | Opacification of the corneal stroma |
| HP:0008430 | Anterior beaking of lumbar vertebrae |
| HP:0008454 | Lumbar kyphosis |
| HP:0012069 | Keratan sulfate excretion in urine |
| HP:0012070 | Chondroitin sulfate excretion in urine |
