Statements (61)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:clam_chowder
|
| gptkbp:advocacy |
raise awareness
provide resources for families support research funding |
| gptkbp:caused_by |
deficiency of iduronate-2-sulfatase
|
| gptkbp:clinical_trial |
ongoing studies
phase 1 trials phase 2 trials phase 3 trials progressive nature variable expressivity heterogeneous presentation |
| gptkbp:condition |
vision problems
respiratory issues cognitive impairment |
| gptkbp:diagnosis |
genetic testing
enzyme assay depends on early diagnosis depends on severity of symptoms depends on treatment access |
| gptkbp:disorder_type |
lysosomal storage disorder
|
| gptkbp:educational_resources |
available for patients and families
available for healthcare providers aim to improve understanding of the disorder |
| gptkbp:first_described_by |
1960s
|
| gptkbp:genetic_studies |
recommended for families
|
| gptkbp:historical_significance |
first identified in 1917
|
| https://www.w3.org/2000/01/rdf-schema#label |
Mucopolysaccharidosis II
|
| gptkbp:inherits_from |
X-linked recessive
|
| gptkbp:is_affected_by |
both males and females
|
| gptkbp:is_involved_in |
available for patients
|
| gptkbp:is_tested_for |
urinary glycosaminoglycans
blood iduronate-2-sulfatase levels |
| gptkbp:known_as |
gptkb:Hunter_syndrome
|
| gptkbp:lifespan |
varies by severity
|
| gptkbp:pathway |
accumulation of glycosaminoglycans
|
| gptkbp:prevalence |
1 in 100,000 live births
|
| gptkbp:promoter |
IDS gene
|
| gptkbp:provides_guidance_on |
developed for management
emphasize early intervention recommend multidisciplinary care |
| gptkbp:public_awareness |
promote understanding of the disorder
|
| gptkbp:registration |
exists for tracking cases
facilitates clinical trials helps in research efforts |
| gptkbp:research_focus |
gptkb:gene_therapy
new enzyme replacement therapies |
| gptkbp:research_institutes |
collaborating on treatment options
dedicated to rare diseases |
| gptkbp:symptoms |
hearing loss
heart disease joint stiffness skeletal abnormalities coarse facial features |
| gptkbp:treatment |
gptkb:Biology
symptomatic treatment investigating chaperone therapy investigating small molecule therapies investigating substrate reduction therapy |
| gptkbp:bfsParent |
gptkb:Elaprase
|
| gptkbp:bfsLayer |
6
|