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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
- OMIM
- GARD
Related Genes
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000768 | Pectus carinatum |
| HP:0000884 | Prominent sternum |
| HP:0000904 | Flaring of rib cage |
| HP:0000926 | Platyspondyly |
| HP:0000939 | Osteoporosis |
| HP:0000943 | Dysostosis multiplex |
| HP:0001223 | Pointed proximal second through fifth metacarpals |
| HP:0001249 | Intellectual disability |
| HP:0001270 | Motor delay |
| HP:0001382 | Joint hypermobility |
