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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 353 | APRT | adenine phosphoribosyltransferase | |
| 411 | ARSB | arylsulfatase B | |
| 2588 | GALNS | galactosamine (N-acetyl)-6-sulfatase | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 3423 | IDS | iduronate 2-sulfatase | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
| 6482 | ST3GAL1 | ST3 beta-galactoside alpha-2,3-sialyltransferase 1 | |
| 6483 | ST3GAL2 | ST3 beta-galactoside alpha-2,3-sialyltransferase 2 | |
| 6484 | ST3GAL4 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NBK3 | Formylglycine-generating enzyme |
- 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 |
