mucopolysaccharidosis IV
Information
- Disease name
- mucopolysaccharidosis IV
- Disease ID
- DOID:12804
- Description
- "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain." [url:http\://en.wikipedia.org/wiki/Morquio_syndrome]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01752296 | Completed | Psychological Concomitants of Morquio Syndrome (The MAP Study) | July 2012 | October 2013 | |
| NCT06036693 | Recruiting | MPS (RaDiCo Cohort) (RaDiCo-MPS) | December 20, 2017 | December 20, 2024 | |
| NCT01675674 | Terminated | Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics | September 2011 | March 2014 | |
| NCT02153255 | Withdrawn | Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa | July 2016 | July 2016 |
- Disase Synonym (Disease Ontology)
- chondroosteodystrophy
- Disase Synonym (Disease Ontology)
- Osteochondrodystrophy
- Exact Synonym (Disease Ontology)
- deficiency of chondroitinsulphatase
- Exact Synonym (Disease Ontology)
- deficiency of N-acetylgalactosamine-6-sulphatase
- Exact Synonym (Disease Ontology)
- galactosamine-6-sulfatase deficiency
- Exact Synonym (Disease Ontology)
- Mucopolysaccharidosis, MPS-IV
- Disase is a (Disease Ontology)
- DOID:12798
- Cross Reference ID (Disease Ontology)
- ICD10CM:E76.219
- Cross Reference ID (Disease Ontology)
- MESH:D009085
- Cross Reference ID (Disease Ontology)
- NCI:C61263
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:378007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0026707
- MeSH unique ID (MeSH (Medical Subject Headings))
- D009085