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This section gives an overview of the disease, and where available shows the following:
More information can be found in the help pages.
✖Disease ID: | 641 | |
Name: | Mucopolysaccharidosis type IVA | |
Associated with: | 1 target |
Database Links |
Disease Ontology:
DOID:12804 OMIM: 253000 Orphanet: ORPHA582 |
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖galactosamine (N-acetyl)-6-sulfatase | |
Role: | Autosomal recessive transmission of GALNS inactivating mutations causes an inability to degrade keratan sulfate, resulting in progressive skeletal deformities during childhood. |
Drugs: | Elosulfase alfa |
Therapeutic use: | Elosufase alfa is a recombinant enzyme replacement therapy. |
References: | 1-2 |
Click ligand name to view ligand summary page
Click the arrow in the final column to expand comments
More information can be found in the help pages.
✖No ligand related data available for Mucopolysaccharidosis type IVA
1. Glössl J, Kresse H. (1982) Impaired degradation of keratan sulphate by Morquio A fibroblasts. Biochem J, 203 (1): 335-8. [PMID:6213226]
2. Yutaka T, Okada S, Kato T, Inui K, Yabuuhi H. (1982) Galactose 6-sulfate sulfatase activity in Morquio syndrome. Clin Chim Acta, 122 (2): 169-80. [PMID:6809361]