Statements (56)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Oncology
|
| gptkbp:affects |
primarily males
|
| gptkbp:associated_with |
skin lesions
respiratory issues cognitive impairment gait abnormalities skeletal deformities |
| gptkbp:breeding_range |
Xq28
|
| gptkbp:caused_by |
deficiency of iduronate-2-sulfatase
|
| gptkbp:clinical_trial |
progressive nature
variable expressivity ongoing studies for new treatments heterogeneous presentation |
| gptkbp:diagnosis |
genetic testing
enzyme assay depends on severity |
| gptkbp:first_described_by |
Dr. Charles Hunter
|
| gptkbp:genetic_studies |
point mutations
deletions insertions recommended for families |
| https://www.w3.org/2000/01/rdf-schema#label |
Hunter syndrome
|
| gptkbp:inherits_from |
X-linked recessive
|
| gptkbp:is_involved_in |
National MPS Society
Hunter Syndrome Foundation |
| gptkbp:is_tested_for |
urinary glycosaminoglycans
iduronate-2-sulfatase activity |
| gptkbp:known_as |
Mucopolysaccharidosis type II
|
| gptkbp:lifespan |
varies widely
|
| gptkbp:premiered_on |
early childhood
|
| gptkbp:prevalence |
1 in 100,000 males
|
| gptkbp:research |
early intervention improves outcomes
clinical trials are ongoing for new therapies long-term care is essential newborn screening may help in early diagnosis psychosocial support is important |
| gptkbp:research_focus |
gptkb:gene_therapy
symptom management strategies new enzyme replacement therapies |
| gptkbp:symptoms |
hearing loss
behavioral issues enlarged liver enlarged spleen cardiovascular problems joint stiffness coarse facial features developmental delay |
| gptkbp:treatment |
gptkb:Biology
improve quality of life symptomatic treatment manage symptoms enhance functional abilities support family needs extend lifespan |
| gptkbp:bfsParent |
gptkb:Elaprase
|
| gptkbp:bfsLayer |
6
|