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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NBK3 | Formylglycine-generating enzyme |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001654 | Abnormal heart valve morphology |
| HP:0002091 | Restrictive ventilatory defect |
| HP:0002240 | Hepatomegaly |
| HP:0002318 | Cervical myelopathy |
| HP:0002515 | Waddling gait |
| HP:0002650 | Scoliosis |
| HP:0002673 | Coxa valga |
| HP:0002788 | Recurrent upper respiratory tract infections |
| HP:0002808 | Kyphosis |
| HP:0002857 | Genu valgum |
