deficiency of N-acetylgalactosamine-6-sulfate sulfatase
GPTKB entity
Properties (40)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
sulfatase deficiency
|
| gptkbp:associated_with |
scoliosis
GAGs in urine cardiac complications |
| gptkbp:can_be |
genetic testing
corneal clouding |
| gptkbp:causedBy |
Mucopolysaccharidosis type VI
|
| gptkbp:demographics |
rare disorder
|
| gptkbp:descendant |
autosomal recessive manner
|
| gptkbp:diseaseResistance |
childhood
enzyme assay |
| gptkbp:geneticDiversity |
the_ARSB_gene
|
| https://www.w3.org/2000/01/rdf-schema#label |
deficiency of N-acetylgalactosamine-6-sulfate sulfatase
|
| gptkbp:impact |
quality of life
sulfate metabolism |
| gptkbp:includes |
symptomatic management
enzyme replacement therapy |
| gptkbp:introduced |
1970s
|
| gptkbp:involved |
ARSB
|
| gptkbp:is_a |
Mucopolysaccharidosis
|
| gptkbp:is_characterized_by |
dysostosis multiplex
accumulation of glycosaminoglycans |
| gptkbp:is_governed_by |
supportive care
|
| gptkbp:is_linked_to |
neurological symptoms
cognitive impairment |
| gptkbp:is_part_of |
metabolic disorders
lysosomal storage disorders |
| gptkbp:leads |
hearing loss
respiratory issues progressive disability |
| gptkbp:previousName |
MPS VI
|
| gptkbp:requires |
physical therapy
|
| gptkbp:resultedIn |
short stature
joint deformities |
| gptkbp:symptoms |
joint stiffness
skeletal abnormalities heart valve abnormalities |
| gptkbp:was_a_result_of |
sulfatase enzyme deficiency
|
| gptkbp:works_with |
facial features changes
|
| gptkbp:worksWith |
gene therapy (experimental)
|